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"A. Eng"
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Complete RPE and outer retinal atrophy in patients receiving anti-VEGF treatment for neovascular age-related macular degeneration
Neovascular age-related macular degeneration (nAMD) is a leading cause of blindness with several intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents available for its management such as aflibercept, bevacizumab, and ranibizumab. However, direct comparisons between these three agents among the same patient population are limited.
To assess the rate and growth of complete retinal pigment epithelium and outer retinal atrophy (cRORA) in eyes with nAMD treated with aflibercept, bevacizumab, and/or ranibizumab.
Retrospective cohort study of patients with treatment-naïve neovascular AMD seen at an academic hospital between October 2006 and February 2019. Study eyes were treated with intravitreal injections of aflibercept, bevacizumab, and/or ranibizumab and followed for two years.
cRORA prevalence, location, size, and growth rate. Eyes were imaged with Cirrus spectral domain optical coherence tomography (SD-OCT). Presence and size of cRORA were calculated using the FDA-approved Advanced RPE Analysis software. Linear regression models were used to correlate cRORA progression with baseline demographic and ocular characteristics, anti-VEGF drug, and number of injections. Unpaired t-tests, ANOVA, and linear regression models were computed with SAS 9.4.
197 eyes from 158 patients (mean age 78.9, 62.9% women) received an average of 13 anti-VEGF injections over 24 months. 22% developed new cRORA. Mean cRORA area increased from 1.71 mm2 to 2.93 mm2. At 24 months, eyes with 11+ injections had significantly less cRORA area (11+ injections, 4.02 mm2; ≤ 10 injections, 2.46 mm2; p = 0.01) and growth rate (11+ injections, 0.41 mm2/year; ≤ 10 injections, 1.05 mm2/year; p = 0.02). Choice of anti-VEGF drug yielded no significant difference in cRORA progression.
Treating nAMD with aflibercept, bevacizumab or ranibizumab demonstrated comparable cRORA development at 24 months. Number of injections inversely correlated with cRORA area and growth. These results warrant further investigation in the pathophysiology of cRORA in anti-VEGF treated eyes.
Journal Article
The association between cigarette smoking, cancer screening, and cancer stage: a prospective study of the women’s health initiative observational cohort
ObjectiveTo assess the dose-dependent relationship between smoking history and cancer screening rates or staging of cancer diagnoses.DesignProspective, population-based cohort study.SettingQuestionnaire responses from the Women’s Health Initiative (WHI) Observational Study.Participants89 058 postmenopausal women.Outcome measuresLogistic regression models were used to assess the odds of obtaining breast, cervical, and colorectal cancer screening as stratified by smoking status. The odds of late-stage cancer diagnoses among patients with adequate vs inadequate screening as stratified by smoking status were also calculated.ResultsOf the 89 058 women who participated, 52.8% were never smokers, 40.8% were former smokers, and 6.37% were current smokers. Over an average of 8.8 years of follow-up, current smokers had lower odds of obtaining breast (OR 0.55; 95% CI 0.51 to 0.59), cervical (OR 0.53; 95% CI 0.47 to 0.59), and colorectal cancer (OR 0.71; 95% CI 0.66 to 0.76) screening compared with never smokers. Former smokers were more likely than never smokers to receive regular screening services. Failure to adhere to screening guidelines resulted in diagnoses at higher cancer stages among current smokers for breast cancer (OR 2.78; 95% CI 1.64 to 4.70) and colorectal cancer (OR 2.26; 95% CI 1.01 to 5.05).ConclusionsActive smoking is strongly associated with decreased use of cancer screening services and more advanced cancer stage at the time of diagnosis. Clinicians should emphasise the promotion of both smoking cessation and cancer screening for this high-risk group.
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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had intragenic deletions of NRXN1. Seventeen of these deletions involved exons of NRXN1, whereas seven deleted intronic sequences only. The patients with exonic deletions manifested developmental delay/intellectual disability (93%), infantile hypotonia (59%) and ASDs (56%). Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. The more C-terminal deletions, including those affecting the β isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1.
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Phenotypic manifestations of copy number variation in chromosome 16p13.11
The widespread clinical utilization of array comparative genome hybridization, has led to the unraveling of many new copy number variations (CNVs). Although some of these CNVs are clearly pathogenic, the phenotypic consequences of others, such as those in 16p13.11 remain unclear. Whereas deletions of 16p13.11 have been associated with multiple congenital anomalies, the relevance of duplications of the region is still being debated. We report detailed clinical and molecular characterization of 10 patients with duplication and 4 patients with deletion of 16p13.11. We found that patients with duplication of the region have varied clinical features including behavioral abnormalities, cognitive impairment, congenital heart defects and skeletal manifestations, such as hypermobility, craniosynostosis and polydactyly. These features were incompletely penetrant. Patients with deletion of the region presented with microcephaly, developmental delay and behavioral abnormalities as previously described. The CNVs were of varying sizes and were likely mediated by non-allelic homologous recombination between low copy repeats. Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance.
Journal Article
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces low, insufficient levels of functional SMN protein due to alternative splicing that truncates the transcript. The decreased levels of SMN protein lead to progressive neuromuscular degeneration and high rates of mortality. Through chemical screening and optimization, we identified orally available small molecules that shift the balance of SMN2 splicing toward the production of full-length SMN2 messenger RNA with high selectivity. Administration of these compounds to Δ7 mice, a model of severe SMA, led to an increase in SMN protein levels, improvement of motor function, and protection of the neuromuscular circuit. These compounds also extended the life span of the mice. Selective SMN2 splicing modifiers may have therapeutic potential for patients with SMA.
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“Why Don’t You Love Me?” Post/colonial Camp and the Imeldific Fetish in Here Lies Love
Produced by David Byrne, frontman of the rock band Talking Heads, in collaboration with Fatboy Slim, an English DJ, it began as a concept album that centered on the relationship between Marcos and her domestic caretaker from childhood, Estrella Cumpas, and was later adapted into an immersive musical, which opened at The Public Theater (New York) in April 2013 and followed \"the rise and fall of Imelda Marcos\" through music reminiscent of the 1970s–80s disco scene.5 Featuring a predominantly Asian/American cast, the musical was heralded as a victory for diversity in theater. \"8 She questions the prevalence by which Americans interpret Filipino cultural performances as being intentionally ironic, explaining: \"The view of the ironies of third world existence comes with a long history of delighting in the contradictions that colonials/traditional peoples represent when they bear the trappings of an alien modernity. [...]the musical risks subordinating the histories and political consequences of the Marcoses' regime to the aesthetic pleasures of reveling in the spectacle of the Imeldific, even as the shoes remain in the closet. [...]the musical's empathy with Imelda Marcos as an unwitting ironic subject fallen from power betrays its attempts to avoid fetishizing the Imeldific.
Journal Article
'Give it up, Kwang': Disavowing Asian Labor and Queer/Trans of Color Critique in Hedwig and the Angry Inch
This essay is premised on the contention that neither \"Hedwig\" nor \"The Angry Inch\" would be possible without Asian labor. While Hedwig's queer labor makes possible the celebrity of Tommy Gnosis, her transformation depends on the disavowal of labor enacted by racial Others. Grappling with the constitutive role of Asian labor in Hedwig and the Angry Inch (2014) shifts analyses about the relationship between sexuality and labor that the musical stages. Given its association of transness with suffering and Hedwig's quest for artistic recognition through her performance, the musical's symbolic deployments of castration risk embedding transness within a developmental narrative of injury that must be overcome. Rather than evaluate the production as being either complicit with or resistant to normative ideals, the essay posits that its disavowals productively rehearse and undermine the operations of sexual normativity. Hedwig uses camp humor to provide a glimpse into the potential complicities and co-optations of queerness/transness, while showing how such dynamics remain uninterrogated. Acknowledging precisely to deny Asian labor through a mode of indifference, Hedwig sublimates the materiality of their racial labor toward her fabulous style. By emphasizing contemporary transnational circuits of capital and war, the Broadway revival of Hedwig invites us to read indifference otherwise—as a refusal to dismiss the racialized conditions that are symptomatic and productive of queerness/transness. Reassessing the debates surrounding Hedwig through camp allows us to mine the political and critical possibilities for queer/trans of color critique, one that productively elucidates the ambivalences of gender and sexuality as their deployments varyingly problematize and fortify projects of violence.
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