Publications by authors named "Greizy Lopez"

6 Publications

  • Page 1 of 1

Genetic association with intravitreal ranibizumab response for neovascular age-related macular degeneration in Hispanic population.

Taiwan J Ophthalmol 2019 Oct-Dec;9(4):243-248. Epub 2019 Dec 13.

Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.

Background/purpose: Age-related macular degeneration (AMD) is the leading cause of visual impairment in patients over 55 years. Currently, the most common therapies for neovascular AMD (nAMD) are intravitreal antiangiogenics. Studies suggest that genetic factors influence on antiangiogenics therapy outcomes. The purpose of this work was to establish the association between complement factor H (CFH) (Y402H), age-related maculopathy susceptibility 2 (ARMS2) (A69S), and high-temperature requirement factor A1 (HTRA1) (rs11200638) polymorphisms and the response to treatment with ranibizumab in patients with nAMD.

Methods: A cross-sectional study with 61 eyes with nAMD treated with ranibizumab was performed. Association between polymorphisms from CFH, ARMS2, and HTRA1 with the response to treatment was established.

Results: The mean age of patients was 76.6 (51-91) years. Only 37.7% of patients had a functional response and 26.2% had an anatomic response. TT polymorphism Y402H from CFH gene was associated with an increased likelihood of functional response to treatment. Otherwise, there was not a statistically significant association between anatomic and functional response to gene polymorphisms rs11200638 from HTRA1 and rs10490924 from ARMS 2.

Conclusions: This study suggests that the response to intravitreal antiangiogenic therapy with ranibizumab was not associated to main polymorphisms from genes HTRA1 and ARMS2. However, it was found that the response to treatment differed according to CFH genotype, suggesting that further investigations are needed to establish if patients with the CC and TC genotype may need to be monitored more closely for disease recurrence than the TT genotype.
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http://dx.doi.org/10.4103/tjo.tjo_72_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947742PMC
December 2019

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

JAMA Cardiol 2020 02;5(2):217-229

Familial Hypercholesterolemia Foundation, Pasadena, California.

Importance: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH.

Observations: In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created.

Conclusions And Relevance: By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.
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http://dx.doi.org/10.1001/jamacardio.2019.5173DOI Listing
February 2020

Detection of hearing loss in newborns: Definition of a screening strategy in Bogotá, Colombia.

Int J Pediatr Otorhinolaryngol 2019 Jul 26;122:76-81. Epub 2019 Mar 26.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Carrera 7 # 40-62, Colombia.

Objective: To describe the results from the hearing screening protocol adopted in a Hospital in Colombia emphasizing the importance of performing screening on an outpatient basis, when the newborn is more than 24 h old.

Methods: A prospective study at Hospital Universitario San Ignacio in Bogota, Colombia was carried out, from May 1st, 2016 to Nov 30, 2017, the study sample included 2.088 newborns examined using transient otoacoustic emissions.

Results: We obtained written consent from the parents of 1.523 newborns and 24 individuals (1.6%) failed the first stage of the screening, nine cases unilateral and 15 bilateral. A total of nine neonates (0,6%) failed the second screening test, six cases unilateral and three bilateral. Four (0,3%) did not return to the second test. Our false altered screening rate was 0.7%.

Conclusions: In a developing country with limited human and economic resources, in which newborn early discharge is the norm, a newborn hearing screening program linked to infants' check-ups, that uses otoacoustic emissions after 48 h of life, seems a feasible option compare to the standard US protocol aiming to conduct hearing screening prior to discharge.
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http://dx.doi.org/10.1016/j.ijporl.2019.03.016DOI Listing
July 2019

Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.

Atherosclerosis 2018 10;277:434-439

Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia; Fundación Derecho a la Desventaja, FUNDALDE, Bogotá, Colombia. Electronic address:

Background And Aims: Familial hypercholesterolemia (FH) is characterized by elevated serum cholesterol levels due to high low-density lipoprotein (LDL) cholesterol levels. FH is an autosomal dominant genetic disorder and one of the most common dominant hereditary diseases in the world. However, the frequency of mutations in Colombia is unknown. The purpose of this preliminary study was to identify mutations in the LDL receptor (LDLR) gene in a Colombian population with FH.

Methods: The study included 24 families with clinical diagnosis of sure/probable FH. The 18 exons of the LDLR were sequenced by Sanger method.

Results: Among 18 variants identified, 3 were known pathogenic mutations and were identified in nine individuals in five unrelated families. Five affected individuals were heterozygous for one mutation each. They were the p.W4X in two, the p.D139G in two and the p.G396D in one. Two affected individuals were homozygous for p.G396D. The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation.

Conclusions: In total, 18 variants were identified, of which 14 correspond to known nonpathogenic variants. Three pathogenic variants were identified in the LDLR. No pathological mutations were identified in the LDLR in 79% of the study population.
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http://dx.doi.org/10.1016/j.atherosclerosis.2018.08.052DOI Listing
October 2018

[Phenotypic and molecular characterization of a Colombian family with phenylketonuria].

Biomedica 2016 Sep 1;36(3):390-396. Epub 2016 Sep 1.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia.

Introduction: Phenylketonuria is a metabolic disorder characterized by severe neurological involvement and behavioral disorder, whose early diagnosis enables an effective treatment to avoid disease sequelae, thus changing the prognosis. Objective: To characterize a family with phenylketonuria in Colombia at clinical, biochemical and molecular levels. Materials and methods: The population consisted of seven individuals of a consanguineous family with four children with suggestive symptoms of phenylketonuria. After signing an informed consent, blood and urine samples were taken for colorimetric tests and high performance liquid and thin layer chromatographies. DNA extraction and sequencing of the 13 exons of the PAH gene were performed in all subjects. We designed primers for each exon with the Primer 3 software using automatic sequencing equipment Abiprism 3100 Avant. Sequences were analyzed using the SeqScape, v2.0, software. Results: We described the clinical and molecular characteristics of a Colombian family with phenylketonuria and confirmed the presence of the mutation c.398_401delATCA. We established a genotype-phenotype correlation, highlighting the interesting clinical variability found among the affected patients despite having the same mutation in all of them. Conclusions: Early recognition of this disease is very important to prevent its neurological and psychological sequelae, given that patients reach old age without diagnosis or proper management.
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http://dx.doi.org/10.7705/biomedica.v36i3.2639DOI Listing
September 2016

[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].

Biomedica 2011 Mar;31(1):82-90

Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, D.C, Colombia.

Introduction: Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have mutations in the USH2A gene.

Objective: The aim of the study was to establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II.

Materials And Methods: Twenty-six Colombian individuals with Usher syndrome type II were included. SSCP analysis for 20 exons of the short isoform was performed and abnormal patterns were sequenced. Sequencing of exon 13 of the USH2A gene was performed for all the individuals because the most frequent mutation is located in this exon.

Results: The most frequent mutation was c.2299delG, identified in the 27% (n=8) of the sample. The second mutation, p.R334W, showed a frequency of 15%. A new variant identified in the 5’UTR region, g.129G>T, was present in 1 individual (4%). Four polymorphisms were identified; one of them is a new deletion in exon 20, first reported in this study.

Conclusions: Mutations in the usherin short isoform were identified in 38% of a sample of 26 USH2 cases. Molecular diagnosis was established in 7 of the 26.
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http://dx.doi.org/10.1590/S0120-41572011000100010DOI Listing
March 2011