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Introduction The primary receptor for SARS-CoV-2 infection, angiotensin-converting enzyme-2 (ACE-2), is expressed in the gastrointestinal tract and liver parenchyma. The involvement of the gastrointestinal tract with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection has remained unclear. The following study retrospectively reviews gastrointestinal symptoms and liver function tests at the time of hospital admission to identify patient outcomes including prolonged hospital stay, the requirement for intensive care, and all-cause in-hospital 30-day mortality. Methods A retrospective review of patient charts at the Woodhull Medical and Mental Health Center (WMC) was conducted at the time of hospital admission, using a pre-determined selection criterion. All adult patients, both inpatient and outpatient, were included from March 2020 till May 2020. A 95% confidence interval was used to estimate the odds ratio (OR) for patient outcomes. Results Of the 520 patients, gastrointestinal symptoms including nausea (OR = 0.375, p = 0.015), and nausea and vomiting in combination (OR = 0.400, p = 0.016) had an inverse protective relationship with all-cause in-hospital 30-day mortality among COVID-19 patients. Gastrointestinal symptoms including diarrhea (OR = 1.008, p < 0.001), and nausea and vomiting (OR = 1.291, p = 0.043) had a mild impact on the length of hospital stay. Conclusion Elevated liver transaminases including alanine transaminase (ALT) and aspartate transaminase (AST) at the time of hospital admission can predict critical care requirement and all-cause 30-day hospital mortality in patients with COVID-19 infection. Presence of gastrointestinal symptoms is associated with worsened outcomes.
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PURPOSE: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. DESIGN: Comparative cohort study. PARTICIPANTS: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. MAIN OUTCOME MEASURES: Phenotypic characteristics were assessed on color fundus photographs, short-wavelength autofluorescence (488-nm), and near-infrared autofluorescence (NIR-AF, 787-nm) images. Subfoveal thickness measurements were obtained from enhanced-depth imaging OCT. Generalized retinal function was determined with full-field electroretinogram (ffERG) testing, and lipofuscin accumulation was assessed by quantitative autofluorescence (qAF). RESULTS: All patients exhibited advanced disease features, including pigment migration in the macula and retinal vessel attenuation at an early age, and reported a symptomatic onset, on average, at 7.4 years (average for ABCA4 disease is 21.9 years, P < 0.0001). Deterioration of the macula was observed to begin with an intense, homogeneous signal on short-wavelength autofluorescence, which corresponds to an attenuated NIR-AF signal and progresses to a patchy, coalescing pattern of chorioretinal atrophy within the subsequent decade. Measurement of choroidal thickness revealed a more rapid thinning of choriocapillaris with age of Sattler's layer compared with the rate in most other patients with ABCA4 disease (P < 0.001). Levels of qAF in the macula before atrophy were above both the 95% confidence intervals for healthy individuals and patients with Stargardt disease (STGD1) (>1000 qAF units). Severe attenuation of cone responses and notable decreases in rod responses were detected by ffERG. Sequencing of the ABCA4 gene revealed exclusively deleterious, null mutations, including stop codons; frameshift deletions; variants in canonical splice sites, which completely abolish splicing; and known deleterious missense alleles. CONCLUSIONS: The ROC phenotype is a unique classification of ABCA4 disease, which is caused by deleterious null biallelic ABCA4 mutations and is characterized by the rapid deterioration of retinal pigment epithelium and photoreceptor layers in the macula and significant choroidal thinning within the first 2 decades of life.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , ADN/genética , Degeneración Macular/congénito , Mutación , Epitelio Pigmentado de la Retina/diagnóstico por imagen , Transportadoras de Casetes de Unión a ATP/metabolismo , Adolescente , Adulto , Niño , Análisis Mutacional de ADN , Progresión de la Enfermedad , Electrorretinografía , Femenino , Angiografía con Fluoresceína/métodos , Fondo de Ojo , Humanos , Degeneración Macular/diagnóstico , Degeneración Macular/genética , Degeneración Macular/metabolismo , Masculino , Fenotipo , Segmento Externo de la Célula en Bastón/patología , Enfermedad de Stargardt , Tomografía de Coherencia Óptica , Adulto JovenRESUMEN
PURPOSE: To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease. METHODS: Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease. Full-field electroretinogram (ffERG), medical history, and genotype data (in silico predictions) were further analyzed from the selected cohort. RESULTS: Eight of 296 patients (2.7%) were found to exhibit small crystalline deposits that were detectable on certain imaging modalities, such as color, infrared reflectance and red-free images, but not autofluorescence. The deposits were most prevalent in the superior region of the macula, and spectral domain optical coherence tomography revealed their presence in the subretinal space. All patients presented with these findings at a notably advanced disease stage with abnormal ffERG and a high proportion of highly deleterious ABCA4 alleles. CONCLUSION: Hyperreflective subretinal deposits may be a manifestation of advanced ABCA4 disease, particularly in regions susceptible to disease-related changes, such as lipofuscin accumulation.