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1.
J AAPOS ; 27(6): 341.e1-341.e6, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37926390

RESUMEN

PURPOSE: To compare outcomes of bilateral lateral rectus recession (BLRc) paired with either bilateral inferior oblique myectomy (BIOm) or bilateral inferior oblique recession (BIOc) to correct V-pattern exotropia. METHODS: The medical records of children (≤18 years) who underwent BLRc with BIOm or BIOc (10 mm) for V-pattern intermittent exotropia between December 2020 and May 2022 and who had at least 6 months' postoperative follow-up were reviewed. Outcomes included horizontal alignment, bilateral inferior oblique action, stereopsis, postoperative exotropia control score, and additional strabismus surgeries. Analysis was stratified by preoperative V pattern into subgroups of 10Δ-14Δ and ≥15Δ. RESULTS: Fifty patients underwent BLRc with BIOm (n = 26) or BIOc (n = 24), with no difference in age, sex, or follow-up length. Preoperatively, there were no differences in stereopsis, horizontal or vertical deviations in primary position, strabismus control, or inferior oblique overaction (IOOA). The BIOc group had greater preoperative V pattern than the BIOm group (18.1 ± 6.8 D vs 14.3 ± 7.0 D, resp. [P = 0.03]). There was no difference in BLRc surgical dose. At final follow-up (mean, 448 ± 189 days), both groups showed a postoperative decrease in horizontal deviation, amount of V pattern, and IOOA. For patients with ≥15Δ V pattern, BIOm decreased V pattern amount at distance (P = 0.02) and IOOA (P = 0.0035) more than BIOc, and BIOm patients had better control of residual strabismus at distance (P = 0.03) compared with the BIOc group overall, as well as for both V pattern subgroups. Two patients with BIOm and one with BIOc underwent additional strabismus surgery. CONCLUSIONS: BIOm or BIOc in combination with BLRc decreased the angle of exotropia and improved control. However, BIOm, especially with large V patterns, had a greater effect on decreasing the V pattern and IOOA and showed better control of residual strabismus.


Asunto(s)
Exotropía , Trastornos de la Motilidad Ocular , Enfermedades Orbitales , Estrabismo , Niño , Humanos , Exotropía/cirugía , Movimientos Oculares , Procedimientos Quirúrgicos Oftalmológicos , Visión Binocular , Estudios Retrospectivos , Músculos Oculomotores/cirugía , Trastornos de la Motilidad Ocular/cirugía , Estrabismo/cirugía , Enfermedades Orbitales/cirugía , Resultado del Tratamiento
2.
Semin Ophthalmol ; 37(5): 631-636, 2022 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-35345981

RESUMEN

OBJECTIVE: To compare the outcomes including complications, in a large cohort of eyes with pseudoexfoliation syndrome that underwent Femtosecond Laser-Assisted Cataract Surgery (FLACS) versus conventional phacoemulsification. DESIGN: Retrospective cohort study. PARTICIPANTS: A total of 513 eyes from 366 patients with pseudoexfoliation syndrome that underwent cataract surgery between April 1, 2014, and December 31, 2018. METHODS: Charts were reviewed for preoperative examination findings, intraoperative complications, and post-operative outcomes. Best-corrected visual acuity (BCVA) was measured by logMAR and compared between groups at one month and the final follow-up visit. RESULTS: Of 513 eyes, 71 (13.8%) underwent FLACS, and 442 (86.2%) eyes underwent conventional cataract surgery. Between the two groups, there was no difference in the incidence of vitreous prolapse, capsular tear, pupillary expansion device usage, capsular tension support device usage, or postoperative cystoid macular edema (p > .05 for all). At the final visit, there was no significant difference in BCVA between FLACS and conventional phacoemulsification groups (mean logMAR 0.26 vs. 0.25, p = .87). CONCLUSIONS: When comparing FLACS and conventional phacoemulsification in eyes with pseudoexfoliation syndrome, no difference was seen in the incidence of complications. BCVA was comparable between the two groups. Zonular weakness significantly increased the risk of complications in both groups.


Asunto(s)
Extracción de Catarata , Catarata , Síndrome de Exfoliación , Terapia por Láser , Facoemulsificación , Catarata/complicaciones , Catarata/epidemiología , Síndrome de Exfoliación/complicaciones , Síndrome de Exfoliación/cirugía , Humanos , Rayos Láser , Estudios Retrospectivos , Agudeza Visual
3.
Methods Mol Biol ; 2018: 1-41, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31228150

RESUMEN

The laboratory rat, Rattus norvegicus, has been used in biomedical research for more than 150 years, and in many cases remains the model of choice for studies of physiology, behavior, and complex human disease. This book provides detailed information on a number of methodologies that can be used in rat. This chapter gives an introduction to rat as a species and as a biomedical model, providing historical information, a brief introduction to the current state of rat research, and a perspective on the future of rat as a model for human disease.


Asunto(s)
Investigación Biomédica/historia , Modelos Animales , Animales , Conducta Animal , Investigación Biomédica/métodos , Bases de Datos Factuales , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Ratas
4.
Methods Mol Biol ; 2018: 43-70, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31228151

RESUMEN

The first and only published version of the rat reference genome sequence was RGSC3.1, accomplished by the Rat Genome Sequencing Project Consortium. Here we present the history of the community effort in the correction of sequence errors and filling missing gaps in the process of refining and providing researchers with a high-quality rat reference sequence. The genome assembly improvements, addition of different evidence resources over time, such as RNA-Seq data, and software development methodologies had a positive impact on the gene model annotations. Over the years we observed a great increase in the numbers of genes, protein coding sequences, predicted transcripts and transcript features. Before the sequencing of the rat genome was possible, first biochemical and next genomic markers like RAPD, AFLP, RFLP, and SSLP were fundamental in research studies involving cross-breeding between different rat strains, in finding the level of polymorphism, linkage mapping, and phylogeny. Linkage maps provide information on recombination rates, give insight into intra- and interspecies gene rearrangements, and help to identify Mendelian loci and Quantitative Trait Loci (QTL). In the 1990s many reports were published on the construction of rat linkage maps that incorporated increasing numbers of markers and facilitated the localization of disease loci. Current genetic monitoring and linkage mapping relies on single nucleotide polymorphisms (SNPs). The Rat Genome Database collects information on genetic variation from the worldwide community of rat researchers and provides tools for searching and retrieving these data. As of today we show details about almost 605 million variants coming from many studies in our Variant Visualizer tool.


Asunto(s)
Bases de Datos Genéticas , Modelos Animales , Polimorfismo de Nucleótido Simple , Secuenciación Completa del Genoma/veterinaria , Animales , Cruzamiento , Mapeo Cromosómico/veterinaria , Anotación de Secuencia Molecular , Filogenia , Sitios de Carácter Cuantitativo , Ratas , Análisis de Secuencia de ARN/veterinaria
5.
Methods Mol Biol ; 2018: 71-96, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31228152

RESUMEN

Resources for rat researchers are extensive, including strain repositories and databases all around the world. The Rat Genome Database (RGD) serves as the primary rat data repository, providing both manual and computationally collected data from other databases.


Asunto(s)
Bases de Datos Factuales , Genoma , Modelos Animales , Animales , Investigación Biomédica , Anotación de Secuencia Molecular , Fenotipo , Sitios de Carácter Cuantitativo , Ratas
6.
Database (Oxford) ; 20192019 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-30753478

RESUMEN

Rats have been used as research models in biomedical research for over 150 years. These disease models arise from naturally occurring mutations, selective breeding and, more recently, genome manipulation. Through the innovation of genome-editing technologies, genome-modified rats provide precision models of disease by disrupting or complementing targeted genes. To facilitate the use of these data produced from rat disease models, the Rat Genome Database (RGD) organizes rat strains and annotates these strains with disease and qualitative phenotype terms as well as quantitative phenotype measurements. From the curated quantitative data, the expected phenotype profile ranges were established through a meta-analysis pipeline using inbred rat strains in control conditions. The disease and qualitative phenotype annotations are propagated to their associated genes and alleles if applicable. Currently, RGD has curated nearly 1300 rat strains with disease/phenotype annotations and about 11% of them have known allele associations. All of the annotations (disease and phenotype) are integrated and displayed on the strain, gene and allele report pages. Finding disease and phenotype models at RGD can be done by searching for terms in the ontology browser, browsing the disease or phenotype ontology branches or entering keywords in the general search. Use cases are provided to show different targeted searches of rat strains at RGD.


Asunto(s)
Curaduría de Datos , Minería de Datos , Bases de Datos Genéticas , Enfermedad/genética , Genoma , Animales , Sistema Enzimático del Citocromo P-450/genética , Modelos Animales de Enfermedad , Anotación de Secuencia Molecular , Fenotipo , Ratas
7.
Int J Mol Sci ; 19(1)2018 Jan 13.
Artículo en Inglés | MEDLINE | ID: mdl-29342845

RESUMEN

Blindness in glaucoma is the result of death of Retinal Ganglion Cells (RGCs) and their axons. RGC death is generally preceded by a stage of reversible dysfunction and structural remodeling. Current treatments aimed at reducing intraocular pressure (IOP) are ineffective or incompletely effective in management of the disease. IOP-independent neuroprotection or neuroprotection as adjuvant to IOP lowering in glaucoma remains a challenge as effective agents without side effects have not been identified yet. We show in DBA/2J mice with spontaneous IOP elevation and glaucoma that the lifespan of functional RGCs can be extended by preconditioning RGCs with retrobulbar lidocaine in one eye at four months of age that temporary blocks RGC axonal transport. The contralateral, PBS-injected eye served as control. Lidocaine-induced impairment of axonal transport to superior colliculi was assessed by intravitreal injection of cholera toxin B. Long-term (nine months) effect of lidocaine were assessed on RGC electrical responsiveness (PERG), IOP, expression of relevant protein (BDNF, TrkB, PSD95, GFAP, Synaptophysin, and GAPDH) and RGC density. While lidocaine treatment did not alter the age-related increase of IOP, TrkB expression was elevated, GFAP expression was decreased, RGC survival was improved by 35%, and PERG function was preserved. Results suggest that the lifespan of functional RGCs in mouse glaucoma can be extended by preconditioning RGCs in early stages of the disease using a minimally invasive treatment with retrobulbar lidocaine, a common ophthalmologic procedure. Lidocaine is inexpensive, safe and is approved by Food and Drug Administration (FDA) to be administered intravenously.


Asunto(s)
Anestésicos/farmacología , Glaucoma/prevención & control , Neuroprotección/efectos de los fármacos , Animales , Transporte Axonal/efectos de los fármacos , Electrorretinografía , Glaucoma/patología , Glaucoma/fisiopatología , Presión Intraocular , Lidocaína/farmacología , Ratones Endogámicos DBA , Células Ganglionares de la Retina/efectos de los fármacos , Células Ganglionares de la Retina/patología , Factores de Tiempo
8.
Int J Gynecol Pathol ; 35(6): 561-565, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27015438

RESUMEN

Microcystic stromal tumor (MST) is a rare tumor of presumed sex-cord stromal differentiation. We present a case of MST arising within a patient with constitutional 5q deletion syndrome, whose deletion encompassed the APC gene. Genomic analysis of the MST revealed a point mutation in the remaining APC allele, predicted to result in abnormal splicing of Exon 7. Subsequent clinical investigation revealed multiple gastrointestinal polyps qualifying for a diagnosis of familial adenomatous polyposis. This case emphasizes the importance of an aberrant Wnt/ß-catenin pathway in the development of MST and adds credence to the inclusion of MST as a rare phenotype of familial adenomatous polyposis. In a search for additional genetic aberrations which may contribute to the development of this rare tumor, genomic analysis revealed a frameshift mutation in FANCD2, a protein which plays a key role in DNA repair. This protein is expressed in human ovarian stromal cells and FANCD2-knockout mice are known to develop sex cord-stromal tumors, factors which further support a possible role of aberrant FANCD2 in the development of MST.


Asunto(s)
Poliposis Adenomatosa del Colon/complicaciones , Anemia Macrocítica/complicaciones , Proteína del Grupo de Complementación D2 de la Anemia de Fanconi/genética , Neoplasias Ováricas/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/genética , Poliposis Adenomatosa del Colon/genética , Anemia Macrocítica/genética , Deleción Cromosómica , Cromosomas Humanos Par 5/genética , Femenino , Mutación del Sistema de Lectura , Genes APC , Humanos , Análisis de Secuencia por Matrices de Oligonucleótidos , Neoplasias Ováricas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Adulto Joven
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