Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 79
Filtrar
1.
Retina ; 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39024646

RESUMO

PURPOSE: We describe three different approaches for lens management in cases of metallic IOFBs involving the posterior segment. METHODS: All consecutive posterior segment metallic IOFB cases from 2012 to 2023 at a single institution were included in this retrospective case series. Surgical outcomes and surgical videos are presented. RESULTS: A total of 25 metallic IOFB cases were included. In 9 cases, there was no significant lens involvement, therefore not requiring lens extraction at the time of IOFB removal. In 8 cases with traumatic cataract, lens extraction sparing the anterior lens capsule was performed with IOFB removal. In 8 cases, both lens extraction and lens capsule removal were required at the time of IOFB removal. CONCLUSION: We demonstrate our algorithm to capsular management in patients who present with IOFB with good visual outcomes in follow-up.

2.
Int J Mol Sci ; 25(2)2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38279252

RESUMO

This retrospective study examines the clinical characteristics and underlying genetic variants that exist in a Leber congenital amaurosis (LCA) patient cohort evaluated at the inherited retinal disease (IRD) clinic at the University of Minnesota (UMN)/M Health System. Our LCA cohort consisted of 33 non-syndromic patients and one patient with Joubert syndrome. We report their relevant history, clinical findings, and genetic testing results. We monitored disease presentation utilizing ocular coherence tomography (OCT) and fundus autofluorescence (FAF). Electroretinogram testing (ERG) was performed in patients when clinically indicated. Next-generation sequencing (NGS) and genetic counseling was offered to all evaluated patients. Advanced photoreceptor loss was noted in 85.7% of the subjects. All patients who underwent FAF had findings of either a ring of macular hypo/hyper AF or peripheral hypo-AF. All patients had abnormal ERG findings. A diagnostic genetic test result was identified in 74.2% of the patients via NGS single-gene testing or panel testing. Two patients in our cohort qualified for Luxturna® and both received treatment at the time of this study. These data will help IRD specialists to understand the genetic variants and clinical presentations that characterize our patient population in the Midwest region of the United States.


Assuntos
Amaurose Congênita de Leber , Humanos , Amaurose Congênita de Leber/genética , Amaurose Congênita de Leber/terapia , Estudos Retrospectivos , Mutação , Retina/patologia , Terapia Genética , Linhagem
3.
Am J Emerg Med ; 65: 219.e5-219.e7, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36604236

RESUMO

BACKGROUND: Acute Descending Necrotizing Mediastinitis is a rare but serious illness that carries a high mortality rate. It is not commonly part of the Emergency Physician's differential diagnoses for the chief complaint of chest pain when there has been no recent instrumentation to the area. Because the disease is so uncommon, there is a relative paucity of reports of the illness. CASE REPORT: We report the case of a 58-year-old male with a past medical history of HIV and history of intravenous drug use (IVDU) who presented to the Emergency Department with anterior chest pain for several days in addition to 3 days of fever and chills. The patient's presentation raised concern for intrathoracic infection and the diagnosis of Descending Necrotizing Mediastinitis complicated by internal jugular thrombosis was confirmed by contrast enhanced computed tomography and sonography.


Assuntos
Bacteriemia , Mediastinite , Staphylococcus aureus Resistente à Meticilina , Infecções Estafilocócicas , Masculino , Humanos , Pessoa de Meia-Idade , Mediastinite/diagnóstico , Infecções Estafilocócicas/complicações , Bacteriemia/complicações , Dor no Peito , Doença Aguda , Necrose , Drenagem
4.
Int J Mol Sci ; 24(13)2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-37446072

RESUMO

This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at the University of Minnesota (UMN)/M Health System who had genetic testing via next generation sequencing. A database was curated to record history and examination, genetic findings, and ocular imaging. Causative pathogenic and likely pathogenic variants were recorded. Disease status was further characterized by ocular coherence tomography (OCT) and fundus autofluorescence (AF). Our study cohort included a total of 199 patients evaluated between 1 May 2015-5 August 2022. The cohort included 151 patients with non-syndromic RP and 48 with syndromic RP. Presenting symptoms included nyctalopia (85.4%) photosensitivity/hemeralopia (60.5%), and decreased color vision (55.8%). On average, 38.9% had visual acuity of worse than 20/80. Ellipsoid zone band width on OCT scan of less than 1500 µm was noted in 73.6%. Ninety-nine percent had fundus autofluorescence (AF) findings of a hypo- or hyper-fluorescent ring within the macula and/or peripheral hypo-AF. Of the 127 subjects who underwent genetic testing, a diagnostic pathogenic and/or likely pathogenic variant was identified in 67 (52.8%) patients-33.3% of syndromic RP and 66.6% of non-syndromic RP patients had a diagnostic gene variant identified. It was found that 23.6% of the cohort had negative genetic testing results or only variants of uncertain significance identified, which were deemed as non-diagnostic. We concluded that patients with RP often present with advanced disease. In our population, next generation sequencing panels identified a genotype consistent with the exam in just over half the patients. Additional work will be needed to identify the underlying genetic etiology for the remainder.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Retinose Pigmentar , Humanos , Estudos Retrospectivos , Retinose Pigmentar/diagnóstico por imagem , Retinose Pigmentar/genética , Retina/diagnóstico por imagem , Retina/patologia , Tomografia de Coerência Óptica , Imagem Multimodal , Mutação
5.
Am J Emerg Med ; 46: 445-448, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33143961

RESUMO

BACKGROUND AND OBJECTIVES: Recently, investigators reported that there remain substantial disparities in the proportion of women within emergency medicine (EM) who have achieved promotion to higher academic rankings, received grant funding, and attained departmental leadership positions. In 2007, women were first authors on 24% of EM-based peer-reviewed articles. Currently, 28% of the academic EM physician workforce is comprised of women. The goal of this study was to identify whether the proportion of female first authors of original research published in three U.S.-based EM journals increased in 2018 as compared to 2008. METHODS: This was a retrospective review of published original research articles during 2008 and 2018 in the journals Academic Emergency Medicine (AEM), American Journal of Emergency Medicine (AJEM), and Annals of Emergency Medicine (Annals). Review articles, opinion pieces, consensus statements, practice recommendations based on current guidelines, and case reports were excluded from analysis. Investigators conducted a review of each article to identify the gender of the study's first and last authors. A study author blinded to the previous author's data abstraction reviewed a sample of 25 articles to assess for inter-rater reliability (kappa). Categorical data are presented as frequency of occurrence and analyzed by chi-square. RESULTS: Overall for the study journals, there were 368 original research articles published in 2008 vs. 580 in 2018. There were no significant differences noted for the proportion of female first author publications during 2008 vs 2018 overall (28% vs 30%; p = 0.38), within AJEM (29% vs 28%; p = 0.85), and observed at Annals (25% vs 24%; p = 0.82) respectively. However, there was a significant increase in the number of first author publications by females between the two periods within AEM (28% vs 45%; p < 0.01). There were no significant differences noted for the proportion of female last author publications during 2008 vs. 2018 overall (21% vs 22%; p = 0.70) and within each respective journal: AEM 22%% vs 26% (p = 0.51), AJEM 22% vs 19% (p = 0.55), and Annals 19% vs 22% (p = 0.20). Inter-rater reliability for author gender within the sample articles was excellent (0.83). CONCLUSION: While female physicians make up a disproportionate 28% of the academic workforce, we found that they were proportionally represented as first authors within several of the most prominent U.S.-based EM journals. Female resident physicians remain underrepresented as first authors and women remain underrepresented as last authors in the same journals.


Assuntos
Autoria , Medicina de Emergência/tendências , Publicações Periódicas como Assunto , Médicas/tendências , Humanos , Estudos Retrospectivos
6.
Mol Vis ; 24: 767-777, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30820138

RESUMO

Purpose: The aim of this study was to create an algorithm to automate, accelerate, and standardize the process of avascular area segmentation in images from a rat oxygen-induced retinopathy (OIR) model. Methods: Within 6 h of birth, full-term pups born to Sprague Dawley rat dams that had undergone partial bilateral uterine artery ligation at embryonic day 19.5 were placed into a controlled oxygen environment (Oxycycler, BioSpherix, Parish, NY) at 50% oxygen for 48 h, followed by cycling between 10% and 50% oxygen every 24 h until day 15. The pups were then moved into room air until day 18.5. Ten lectin-stained retinal flat mounts were imaged in montage fashion at 10x magnification. Three masked human reviewers measured two parameters, total retinal area and peripheral avascular area, for each image using the ImageJ freehand selection tool. The outputs of each read were measured as number of pixels. The gold standard value for each image was the mean of the three human reads. Interrater agreement for the measurement of total retinal area, avascular area, and percent avascular area was calculated using type A intraclass correlation coefficients (ICCs) with a two-way random effects model. Automated avascular area identification (A3ID) is a method written in ImageJ Macro that is intended for use in the Fiji (Fiji is Just ImageJ) image processing platform. The input for A3ID is a rat retinal image, and the output is the avascular area (in pixels). A3ID utilizes a random forest classifier with a connected-components algorithm and post-processing filters for size and shape. A separate algorithm calculates the total retinal area. We compared the output of both algorithms to gold standard measurements by calculating ICCs, performing linear regression, and determining the Dice coefficients for both algorithms. We also constructed a Bland-Altman plot for A3ID output. Results: The ICC for percent peripheral avascular/total area between human readers was 0.995 (CI: 0.974-0.999), with p<0.001. The ICC between A3ID and the gold standard was calculated for three image parameters-avascular area: 0.974 (CI: 0.899-0.993), with p<0.001; total retinal area: 0.465 (CI: 0.0-0.851), with p=0.001; and the percent peripheral avascular/total area: 0.94 (CI: 0.326-0.989), with p<0.001. In the linear regression analysis, the slope for prediction of the gold standard percent peripheral avascular/total area from A3ID was 0.98, with R2=0.975. A3ID and the total retinal area algorithm achieve an average Dice coefficient of 0.891 and 0.952, respectively. The Bland-Altman analysis revealed a trend for computer underestimation of the peripheral avascular area in images with low peripheral avascular area and overestimation of peripheral avascular area in images with large peripheral avascular areas. Conclusions: A3ID reliably predicts peripheral avascular area based on rat OIR retinal images. When the peripheral avascular area is particularly high or low, hand segmentation of images may be superior.


Assuntos
Modelos Animais de Doenças , Processamento de Imagem Assistida por Computador/métodos , Isquemia/diagnóstico , Oxigênio/toxicidade , Vasos Retinianos/patologia , Retinopatia da Prematuridade/diagnóstico , Algoritmos , Animais , Animais Recém-Nascidos , Feminino , Isquemia/induzido quimicamente , Isquemia/fisiopatologia , Masculino , Ratos , Ratos Sprague-Dawley , Retinopatia da Prematuridade/induzido quimicamente , Retinopatia da Prematuridade/fisiopatologia
7.
Ophthalmology ; 125(4): 559-568, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29096998

RESUMO

PURPOSE: Age-related macular degeneration (AMD), a multifactorial disease with variable phenotypic presentation, was associated with 52 single nucleotide polymorphisms (SNPs) at 34 loci in a genome-wide association study (GWAS). These genetic variants could modulate different biological pathways involved in AMD, contributing to phenotypic variability. To better understand the effects of these SNPs, we performed a deep phenotype association study (DeePAS) in the Age-Related Eye Disease Study 2 (AREDS2), followed by replication using AREDS participants, to identify genotype associations with AMD and non-AMD ocular and systemic phenotypes. DESIGN: Cohort study. PARTICIPANTS: AREDS and AREDS2 participants. METHODS: AREDS2 participants (discovery cohort) had detailed phenotyping for AMD; other eye conditions; cardiovascular, neurologic, gastrointestinal, and endocrine disease; cognitive function; serum nutrient levels; and others (total of 139 AMD and non-AMD phenotypes). Genotypes of the 52 GWAS SNPs were obtained. The DeePAS was performed by correlating the 52 SNPs to all phenotypes using logistic and linear regression models. Associations that reached Bonferroni-corrected statistical significance were replicated in AREDS. MAIN OUTCOME MEASURES: Genotype-phenotype associations. RESULTS: A total of 1776 AREDS2 participants had 5 years follow-up; 1435 AREDS participants had 10 years. The DeePAS revealed a significant association of the rs3750846 SNP at the ARMS2/HTRA1 locus with subretinal/sub-retinal pigment epithelial (RPE) hemorrhage related to neovascular AMD (odds ratio 1.55 [95% confidence interval 1.31-1.84], P = 2.67 × 10-7). This novel association remained significant after conditioning on participants with neovascular AMD (P = 2.42 × 10-4). Carriers of rs3750846 had poorer visual acuity during follow-up (P = 6.82 × 10-7) and were more likely to have a first-degree relative with AMD (P = 5.38 × 10-6). Two SNPs at the CFH locus, rs10922109 and rs570618, were associated with the drusen area in the Early Treatment Diabetic Retinopathy Study Report (ETDRS) grid (P = 2.29 × 10-11 and P = 3.20 × 10-9, respectively) and the center subfield (P = 1.24 × 10-9 and P = 6.68 × 10-8, respectively). SNP rs570618 was additionally associated with the presence of calcified drusen (P = 5.38 × 10-6). Except for positive family history of AMD with rs3750846, all genotype-phenotype associations were significantly replicated in AREDS. No pleiotropic associations were identified. CONCLUSIONS: The association of the SNP at the ARMS2/HTRA1 locus with subretinal/sub-RPE hemorrhage and poorer visual acuity and of SNPs at the CFH locus with drusen area may provide new insights in pathophysiological pathways underlying different stages of AMD.


Assuntos
Serina Peptidase 1 de Requerimento de Alta Temperatura A/genética , Degeneração Macular/genética , Polimorfismo de Nucleotídeo Único , Proteínas/genética , Idoso , Estudos de Coortes , Fator H do Complemento/genética , Método Duplo-Cego , Combinação de Medicamentos , Ácidos Graxos Ômega-3/uso terapêutico , Feminino , Seguimentos , Estudos de Associação Genética , Estudo de Associação Genômica Ampla , Humanos , Luteína/uso terapêutico , Degeneração Macular/diagnóstico , Degeneração Macular/tratamento farmacológico , Masculino , Drusas Retinianas/diagnóstico , Drusas Retinianas/tratamento farmacológico , Drusas Retinianas/genética , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/tratamento farmacológico , Hemorragia Retiniana/genética , Epitélio Pigmentado da Retina/patologia , Acuidade Visual/fisiologia , Zeaxantinas/uso terapêutico
9.
J Occup Environ Hyg ; 15(6): 510-517, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29580177

RESUMO

It is difficult to measure transient airborne exposure peaks by means of integrated sampling for organic chemical vapors, even with very short-duration sampling. Selection of an appropriate time to measure an exposure peak through integrated sampling is problematic, and short-duration time-weighted average (TWA) values obtained with integrated sampling are not likely to accurately determine actual peak concentrations attained when concentrations fluctuate rapidly. Laboratory analysis for integrated exposure samples is preferred from a certainty standpoint over results derived in the field from a sensor, as a sensor user typically must overcome specificity issues and a number of potential interfering factors to obtain similarly reliable data. However, sensors are currently needed to measure intra-exposure period concentration variations (i.e., exposure peaks). In this article, the digitized signal from a photoionization detector (PID) sensor triggered collection of whole-air samples when toluene or trichloroethylene vapors attained pre-determined levels in a laboratory atmosphere generation system. Analysis by gas chromatography-mass spectrometry of whole-air samples (with both 37 and 80% relative humidity) collected using the triggering mechanism with rapidly increasing vapor concentrations showed good agreement with the triggering set point values. Whole-air samples (80% relative humidity) in canisters demonstrated acceptable 17-day storage recoveries, and acceptable precision and bias were obtained. The ability to determine exceedance of a ceiling or peak exposure standard by laboratory analysis of an instantaneously collected sample, and to simultaneously provide a calibration point to verify the correct operation of a sensor was demonstrated. This latter detail may increase the confidence in reliability of sensor data obtained across an entire exposure period.


Assuntos
Poluentes Ocupacionais do Ar/análise , Cromatografia Gasosa/instrumentação , Monitoramento Ambiental/instrumentação , Monitoramento Ambiental/métodos , Cromatografia Gasosa-Espectrometria de Massas/métodos , Umidade , Reprodutibilidade dos Testes , Tolueno/análise , Tricloroetileno/análise
10.
PLoS Comput Biol ; 12(11): e1005017, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27902695

RESUMO

The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature. In this paper we propose a high-performance machine learning approach to automate the extraction of disease-gene-variant triplets from biomedical literature. Our approach is unique because we identify the genes and protein products associated with each mutation from not just the local text content, but from a global context as well (from the Internet and from all literature in PubMed). Our approach also incorporates protein sequence validation and disease association using a novel text-mining-based machine learning approach. We extract disease-gene-variant triplets from all abstracts in PubMed related to a set of ten important diseases (breast cancer, prostate cancer, pancreatic cancer, lung cancer, acute myeloid leukemia, Alzheimer's disease, hemochromatosis, age-related macular degeneration (AMD), diabetes mellitus, and cystic fibrosis). We then evaluate our approach in two ways: (1) a direct comparison with the state of the art using benchmark datasets; (2) a validation study comparing the results of our approach with entries in a popular human-curated database (UniProt) for each of the previously mentioned diseases. In the benchmark comparison, our full approach achieves a 28% improvement in F1-measure (from 0.62 to 0.79) over the state-of-the-art results. For the validation study with UniProt Knowledgebase (KB), we present a thorough analysis of the results and errors. Across all diseases, our approach returned 272 triplets (disease-gene-variant) that overlapped with entries in UniProt and 5,384 triplets without overlap in UniProt. Analysis of the overlapping triplets and of a stratified sample of the non-overlapping triplets revealed accuracies of 93% and 80% for the respective categories (cumulative accuracy, 77%). We conclude that our process represents an important and broadly applicable improvement to the state of the art for curation of disease-gene-variant relationships.


Assuntos
Mineração de Dados/métodos , Bases de Dados Genéticas , Predisposição Genética para Doença/genética , Genoma Humano/genética , Publicações Periódicas como Assunto , Medicina de Precisão/métodos , Sistemas de Gerenciamento de Base de Dados , Predisposição Genética para Doença/epidemiologia , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Processamento de Linguagem Natural
11.
J Occup Environ Hyg ; 14(5): 343-348, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27792470

RESUMO

Gas chromatography/mass spectrometry (GC/MS) operated in selected ion monitoring mode was used to enhance the sensitivity of OSHA Methods 1013/1016 for measuring diacetyl and 2,3-pentanedione in air samples. The original methods use flame ionization detection which cannot achieve the required sensitivity to quantify samples at or below the NIOSH recommended exposure limits (REL: 5 ppb for diacetyl and 9.3 ppb for 2,3-pentanedione) when sampling for both diacetyl and 2,3-pentanedione. OSHA Method 1012 was developed to measure diacetyl at lower levels but requires an electron capture detector, and a sample preparation time of 36 hours. Using GC/MS allows detection of these two alpha-diketones at lower levels than OSHA Method 1012 for diacetyl and OSHA Method 1016 for 2,3-pentanedione. Acetoin and 2,3-hexanedione may also be measured using this technique. Method quantification limits were 1.1 ppb for diacetyl (22% of the REL), 1.1 ppb for 2,3-pentanedione (12% of the REL), 1.1 ppb for 2,3-hexanedione, and 2.1 ppb for acetoin. Average extraction efficiencies above the limit of quantitation were 100% for diacetyl, 92% for 2,3-pentanedione, 89% for 2,3-hexanedione, and 87% for acetoin. Mass spectrometry with OSHA Methods 1013/1016 could be used by analytical laboratories to provide more sensitive and accurate measures of exposure to diacetyl and 2,3-pentanedione.


Assuntos
Diacetil/análise , Monitoramento Ambiental/métodos , Exposição Ocupacional/análise , Pentanonas/análise , Diacetil/química , Cromatografia Gasosa-Espectrometria de Massas/métodos , National Institute for Occupational Safety and Health, U.S. , Pentanonas/química , Estados Unidos , United States Occupational Safety and Health Administration
13.
Adv Exp Med Biol ; 939: 139-166, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27807747

RESUMO

The key question of precision medicine is whether it is possible to find clinically actionable granularity in diagnosing disease and classifying patient risk. The advent of next-generation sequencing and the widespread adoption of electronic health records (EHRs) have provided clinicians and researchers a wealth of data and made possible the precise characterization of individual patient genotypes and phenotypes. Unstructured text-found in biomedical publications and clinical notes-is an important component of genotype and phenotype knowledge. Publications in the biomedical literature provide essential information for interpreting genetic data. Likewise, clinical notes contain the richest source of phenotype information in EHRs. Text mining can render these texts computationally accessible and support information extraction and hypothesis generation. This chapter reviews the mechanics of text mining in precision medicine and discusses several specific use cases, including database curation for personalized cancer medicine, patient outcome prediction from EHR-derived cohorts, and pharmacogenomic research. Taken as a whole, these use cases demonstrate how text mining enables effective utilization of existing knowledge sources and thus promotes increased value for patients and healthcare systems. Text mining is an indispensable tool for translating genotype-phenotype data into effective clinical care that will undoubtedly play an important role in the eventual realization of precision medicine.


Assuntos
Mineração de Dados/estatística & dados numéricos , Registros Eletrônicos de Saúde/estatística & dados numéricos , Neoplasias/terapia , Farmacogenética/tendências , Medicina de Precisão , Bases de Dados Factuais , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Terapia de Alvo Molecular , Neoplasias/genética , Neoplasias/patologia , Publicações Periódicas como Assunto , Fenótipo
14.
Mol Genet Genomics ; 290(1): 127-40, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25159111

RESUMO

The transposons of Drosophila melanogaster are regulated by small RNAs that interact with the Piwi family of proteins. These piRNAs are generated from transposons inserted in special loci such as the telomere-associated sequences at the left end of the X chromosome. Drosophila's P transposons can also be regulated by a polypeptide encoded by the KP element, a 1.15-kb-long member of the P family. Using piRNA-generating telomeric P elements (TPs) and repressor-producing transgenic KP elements, we demonstrate a functional connection between these two modes of regulation. By themselves, the TPs partially repress gonadal dysgenesis, a trait caused by rampant P-element activity in the germ line. This repression is manifested as a strictly maternal effect arising from the cytoplasmic transmission of P-specific piRNAs from mother to offspring. The repression is enhanced by genetic interactions between the TPs and other, non-telomeric P elements-a phenomenon attributable to ping-pong amplification of maternal piRNAs. KP elements, like other kinds of non-telomeric P elements, enhance regulation anchored in the TPs. However, with some TPs, the enhanced regulation is manifested as a strictly zygotic effect of the KP element. This effect is seen when the TP has few sequences in common with the KP element, a condition not conducive to ping-pong amplification of piRNAs; it can be attributed to the action of the KP repressor polypeptide. Because the effect is seen only when a TP was present in the mother's genotype, maternally generated P-element piRNAs could facilitate regulation by the KP repressor polypeptide.


Assuntos
Elementos de DNA Transponíveis/genética , Drosophila/genética , Disgenesia Gonadal/genética , Hibridização Genética , Peptídeos/metabolismo , RNA Interferente Pequeno/metabolismo , Animais , Animais Geneticamente Modificados , Cruzamentos Genéticos , Feminino , Padrões de Herança/genética , Masculino , Telômero/metabolismo , Transgenes
15.
Front Ophthalmol (Lausanne) ; 4: 1357373, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38984106

RESUMO

Background: The path of rehabilitation of an eye after open globe injury (OGI) may require multiple additional secondary surgeries after the initial repair. Although much has been studied regarding the outcomes of secondary surgeries after open globe repair, it can be challenging to understand the possible implications of the surgical rehabilitative process. This retrospective study considers the benefits of the required additional secondary surgeries for a consecutive series of OGI patients. Methods: OGI patients who had at least one additional surgery after the initial open globe repair (OGR) were studied retrospectively. Additional inclusion criteria included: follow up of at least 12 months since the initial injury and at least 3 months since their most recent surgery, and no additional planned interventions. Preoperative visual acuity was compared to final visual acuity. Additionally, the odds of achieving ambulatory vision (≥20/800) and reading vision (≥20/40) were calculated after each indicated consecutive surgery. Results: A cohort of 74 eyes from 73 patients met our inclusion criteria. These patients underwent a mean of two additional surgeries. The mean logMAR VA improved from 2.3 (HM) at presentation to 1.4 (20/150), or a 9-line Snellen equivalent improvement. Upon reaching their final visit status, 50% of patients had achieved ambulatory vision and 30% of patients had achieved reading vision. The odds of achieving ambulatory vision after completion of all the rehabilitative surgical process compared to the vision prior to the secondary rehabilitative surgery were higher (OR: 19.1, 95% CI: 7.9 - 30.4, p = 0.0008) as were the odds of achieving reading vision (OR: 4.6, 95% CI: 0.2 - 9.0, p = 0.04). With subsequent second, third, and fourth additional surgeries, the odds of achieving either ambulatory or reading vision at the final visit compared to their preoperative visual acuities were not significant (p > 0.05) but the visual acuity continued to trend toward visual improvement. Conclusion: Approximately 50% of individuals who required additional surgery at UMN achieved ambulatory vision and 30% achieved reading vision. The odds of visual improvement through the surgical rehabilitative process were very high, with the greatest gains generally achieved after the first surgery.

16.
Retin Cases Brief Rep ; 18(1): 120-123, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36240079

RESUMO

BACKGROUND/PURPOSE: To describe the clinical, optical coherence tomography (OCT), fundus autofluorescence and ultrasound findings of a patient with a choroidal nevus actively exuding vitelliform material in the setting of autosomal dominant Best dystrophy (BD). METHODS: The patient's clinical course was followed over time with ophthalmic examinations and multimodal imaging. RESULTS: A 71-year-old male patient with BD was referred for evaluation of a choroidal nevus in the right eye. Dilated fundoscopic examination showed a small pigmented choroidal nevus in the temporal periphery. Over a 3-year period, the nevus developed progressive deposition of vitelliform material along its inferior border. Meanwhile, OCT and fundus photography showed only slight growth. Ultrasound showed no change in height; basal measurements were confounded by the increased vitelliform deposits. Genetic testing confirmed a heterozygous mutation in the BEST1 gene and electrophysiology was consistent with BD. CONCLUSIONS: Dysfunction of the retinal pigment epithelium associated with BD may cause novel presentations of other conditions such as choroidal nevi. The implication for malignant transformation of a choroidal nevus associated with vitelliform deposit accumulation in this context is unknown.


Assuntos
Neoplasias da Coroide , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Distrofia Macular Viteliforme , Masculino , Humanos , Idoso , Distrofia Macular Viteliforme/complicações , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética , Epitélio Pigmentado da Retina/patologia , Neoplasias da Coroide/diagnóstico , Neoplasias da Coroide/patologia , Nevo Pigmentado/patologia , Tomografia de Coerência Óptica/métodos , Neoplasias Cutâneas/patologia , Bestrofinas
17.
Mol Genet Genomics ; 288(10): 535-47, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23925475

RESUMO

Transposable P elements are regulated in the germ line by piRNAs, which are small RNAs that associate with the Piwi class of proteins. This regulation, called the P cytotype, is enhanced by genetic interactions between P elements that are primary sources of these RNAs and other P elements. The enhanced regulation is thought to reflect amplification of the primary piRNAs by cleavage of mRNAs derived from the other P elements through a mechanism called the ping-pong cycle. We tested the transposase-encoding P element known as ∆2-3 for its ability to enhance cytotype regulation anchored in P elements inserted at the telomere of the left arm of the X chromosome (TP elements). The ∆2-3 P element lacks the intron between exons 2 and 3 in the structurally complete P element (CP). Unlike the CP element, it does not markedly enhance cytotype regulation anchored in TP elements, nor does it transmit transposase activity through the egg cytoplasm. However, mRNAs from both the CP and ∆2-3 elements are maternally deposited in embryos. These observations suggest that maternally transmitted CP mRNA enhances cytotype regulation by participating in the ping-pong cycle and that it encodes the P transposase in the embryonic germ line, whereas maternally transmitted ∆2-3 mRNA does not, possibly because it is not efficiently directed into the primordial embryonic germ line. Strong transposon regulation may, therefore, require ping-pong cycling with maternally inherited mRNAs in the embryo.


Assuntos
Proteínas Argonautas/metabolismo , Elementos de DNA Transponíveis/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/enzimologia , Regulação da Expressão Gênica/fisiologia , Células Germinativas/fisiologia , RNA Interferente Pequeno/metabolismo , Transposases/metabolismo , Animais , Primers do DNA/genética , Elementos de DNA Transponíveis/fisiologia , Feminino , Disgenesia Gonadal/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transposases/genética , Cromossomo X/metabolismo
18.
J Vis ; 13(5)2013 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-23620533

RESUMO

Unlike frozen snapshots of facial expressions that we often see in photographs, natural facial expressions are dynamic events that unfold in a particular fashion over time. But how important are the temporal properties of expressions for our ability to reliably extract information about a person's emotional state? We addressed this question experimentally by gauging human performance in recognizing facial expressions with varying temporal properties relative to that of a statistically optimal ("ideal") observer. We found that people recognized emotions just as efficiently when viewing them as naturally evolving dynamic events, temporally reversed events, temporally randomized events, or single images frozen in time. Our results suggest that the dynamic properties of human facial movements may play a surprisingly small role in people's ability to infer the emotional states of others from their facial expressions.


Assuntos
Expressão Facial , Reconhecimento Psicológico , Percepção Visual/fisiologia , Adulto , Análise de Variância , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Limiar Sensorial
19.
Disaster Med Public Health Prep ; 17: e539, 2023 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-37921225

RESUMO

Following Afghanistan's fall in August 2021, many refugees were settled in the United States as part of Operation Allies Welcome. They were flown from Kabul to the Middle East and Europe before continuing to the U.S. By late September Philadelphia was the sole destination. From there refugees were transported to Safe Haven military bases around the country. Philadelphia International Airport became the site of a months-long operation involving city, state, federal, and private agencies engaged in processing, medical screening, and COVID-testing of arriving refugees. The Philadelphia Fire Department played an integral role. Minor medical conditions were treated onsite. Higher acuity patients were transported to nearby hospitals. The goal was to maintain flow of refugees to their next destination while addressing acute medical issues. Between August 28, 2021, and March 1, 2022, the airport processed 29,713 refugees. Philadelphia's experience may serve as a guide for planning future such refugee operations.


Assuntos
Refugiados , Humanos , Estados Unidos , Aeroportos , Europa (Continente) , Oriente Médio , Philadelphia
20.
Artigo em Inglês | MEDLINE | ID: mdl-37603453

RESUMO

PURPOSE: To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. METHODS: Clinical course was detailed and followed over time with examinations and multimodal imaging. PATIENT AND RESULTS: A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium (RPE) changes with RPE drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane (CNVM) was present in the left eye. Multimodal imaging with OCT, FAF, FA and ICG correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis. DISCUSSION AND CONCLUSIONS: HS is associated with RPE degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur due to the development of CNVMs. We recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA