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Digoxin is a Na-K ATPase inhibitor commonly used to treat heart failure and atrial fibrillation. It is only approved for oral or intravenous (IV) use. There is no approved indication for intrathecal administration. Only four previously reported cases of intrathecal digoxin administration in pregnant patients are in the literature. We present a patient who had an unfortunate case of erroneous intrathecal Digoxin administration following an elective Cesarean section. Post-delivery, the patient's mental status deteriorated. She became unresponsive and remained comatose for 11 days. Brain magnetic resonance imaging (MRI) showed diffuse, patchy hyperintensities involving bilateral frontotemporal lobes and basal ganglia. A spine MRI showed extensive cervical and thoracic cord edema. At discharge, the patient was paraplegic with no sensation or motor response below the level of T10. At the 90-day follow-up, she had intact mental status and minimal improvement in motor strength and sensation below T10 and was reportedly breastfeeding. This is an unfortunate case of severe neurological deficits resulting from a grave medical error, which continues to be a prevalent issue in the United States healthcare system.
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The leaf-specific Catharanthus roseus alkaloid, vindoline, is the major bottleneck precursor in the production of scarce and costly anticancer bisindoles (vincristine and vinblastine). The final steps of its biosynthesis and storage occur in the laticifers. Earlier, we have shown that vindoline content is directly related to laticifer number. Pectin remodeling enzymes, like pectin methylesterase (PME), are known to be involved in laticifer development. A search in the croFGD yielded a leaf-abundant CrPME isoform that co-expressed with a few vindoline biosynthetic genes. Full-length cloning, tissue-specific expression profiling, and in silico analysis of CrPME were carried out. It was found to possess all the specific characteristics of a typical plant PME. Transient silencing (through VIGS) and overexpression of CrPME in C. roseus indicated a direct relationship between its expression and vindoline content. Comparative analysis of transcript abundance and enzyme activity in three familial C. roseus genotypes differing significantly in their vindoline content and laticifer count (CIM-Sushil > Dhawal > Nirmal) also corroborated the positive relationship of CrPME expression with vindoline content. This study highlights the possible role of CrPME, a cell wall remodeling enzyme, in modulating laticifer-associated secondary metabolism.
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Catharanthus , Vinblastina , Vinblastina/análogos & derivados , Vinblastina/metabolismo , Catharanthus/genética , Catharanthus/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismoRESUMEN
OBJECTIVE: To determine the association between pre-operative central subfield thickness (CST) and post-radiotherapy visual acuity (VA), cystoid macular edema (CME), and intravitreal anti-vascular endothelial growth factor (VEGF) requirement. DESIGN: Single-center retrospective study. PARTICIPANTS: Patients with plaque-irradiated extramacular choroidal melanoma treated between 11/11/2011 and 4/30/2021. Pre-operative CST difference between the affected and unaffected eye was used. Kaplan-Meier analysis and hazard ratios were calculated. RESULTS: Of 85 patients, pre-operative CST was greater in the melanoma-affected eye (vs. fellow eye) by mean of 20.4 µm (median 14.0, range - 60.0-182.0). Greater CST at presentation (vs. fellow eye) was associated with larger tumor diameter (p = 0.02), greater tumor thickness (p < 0.001), and more frequent tumor-related Bruch's membrane rupture (p = 0.006). On univariate analysis of outcome data, greater CST at presentation (vs. fellow eye) was associated with higher 5-year risk (1.09 [1.02-1.17], p = 0.02) of VA 20/200 or worse and increased (1.10 [1.01-1.20], p = 0.03) likelihood for anti-VEGF injections after plaque irradiation. There was no significant association with CME. The association between CST and VA outcome remained significant on multivariate analysis accounting for impact of tumor thickness and radiation dose to optic disc, while tumor distance to fovea was the only significant factor on multivariate analysis for anti-VEGF injections. CONCLUSION: Greater CST at presentation (vs. fellow eye) was associated with worse VA outcome following plaque radiotherapy for choroidal melanoma. Large-sized tumors may contribute to a higher intraocular VEGF burden, potentially leading to greater preoperative CST, which correlates with poor VA outcome post-plaque radiotherapy.
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Neoplasias de la Coroides , Edema Macular , Melanoma , Neoplasias de la Úvea , Humanos , Estudios Retrospectivos , Factor A de Crecimiento Endotelial Vascular , Melanoma/diagnóstico , Melanoma/radioterapia , Edema Macular/tratamiento farmacológico , Neoplasias de la Coroides/diagnóstico , Neoplasias de la Coroides/radioterapia , Agudeza Visual , Inyecciones Intravítreas , Inhibidores de la Angiogénesis , Tomografía de Coherencia ÓpticaRESUMEN
BACKGROUND: Nicardipine is commonly used in the management of hypertensive crises, except those involving cardiac contractility defects despite its ability to reduce afterload and pulmonary congestion. Consequently, there is limited literature evaluating nicardipine's role for this indication. The purpose of this study was to evaluate the efficacy and safety of nicardipine in adults with reduced ejection fractions presenting with acute heart failure with hypertension (AHF-H). METHODS: This was a retrospective study conducted at an academic Level 1 trauma center with an annual Emergency Department (ED) volume surpassing 100,000. The purpose of this study was to determine the efficacy and safety of nicardipine in adults with reduced ejection fractions presenting to the ED with AHF-H. Efficacy was determined by achievement of the physician prescribed blood pressure target range. The primary safety endpoints included the number of individuals who experienced bradycardia (< 60 beats per minute, bpm) or hypotension (systolic blood pressure, SBP, < 90 mmHg) while receiving nicardipine and for up to 15 min after its discontinuation. Patients were included if they were ≥ 18 years of age, received a continuous intravenous nicardipine infusion within six hours of presenting to the ED, and had an ejection fraction ≤ 40% per an echocardiogram obtained within three months of the study visit. Pregnant and incarcerated patients were excluded. RESULTS: Of the 500 patient charts reviewed, 38 met inclusion criteria. The median (interquartile, IQR) ejection fraction and brain natriuretic peptide (BNP) were 35% (25-40) and 731 pg/nL (418-3277), respectively. The median baseline heart rate and SBP were 90 bpm and 193 mmHg, respectively. The median physician specified SBP goal was 160 mmHg and all patients met this endpoint in a median time of 18 min. One (2.6%) patient in the total population developed both hypotension and bradycardia. This patient had an ejection fraction of 20%, was intubated, and received nicardipine in addition to esmolol for an aortic dissection without experiencing an adverse event until 30 min after dexmedetomidine was initiated. CONCLUSION: In this non-interventional study evaluating the use of nicardipine in patients with reduced ejection fractions presenting to the ED with AHF-H, nicardipine was found to be safe and effective. To our knowledge this is the largest study to date evaluating nicardipine in this patient population and positively contributes to the existing literature.
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Insuficiencia Cardíaca , Hipertensión , Hipotensión , Humanos , Adulto , Lactante , Nicardipino/uso terapéutico , Antihipertensivos/efectos adversos , Bradicardia/inducido químicamente , Estudios Retrospectivos , Volumen Sistólico , Hipertensión/complicaciones , Hipertensión/tratamiento farmacológico , Hipertensión/inducido químicamente , Presión Sanguínea , Hipotensión/tratamiento farmacológico , Insuficiencia Cardíaca/tratamiento farmacológicoRESUMEN
PURPOSE: The purpose of this study was to report a case of spontaneous formation and resolution of a lamellar macular hole in a patient with diabetic macular edema treated with steroid implants. METHODS: This study is a case report. RESULTS: A 53-year-old man presented with blurry vision and was found to have diabetic macular edema that remained refractory to treatment despite multiple short-term intravitreal steroid implants. He was eventually treated with an intravitreal fluocinolone acetonide implant and was subsequently noted to have developed a lamellar macular hole that then resolved spontaneously without any additional therapy. CONCLUSION: There can be spontaneous formation and resolution of lamellar holes in the treatment of diabetic macular edema because of reorganization of the inner retinal layers, without significant impact on visual acuity. To the best of our knowledge, this finding has not been previously reported.
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Diabetes Mellitus , Retinopatía Diabética , Edema Macular , Perforaciones de la Retina , Masculino , Humanos , Persona de Mediana Edad , Retinopatía Diabética/complicaciones , Retinopatía Diabética/tratamiento farmacológico , Edema Macular/tratamiento farmacológico , Edema Macular/etiología , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/tratamiento farmacológico , Perforaciones de la Retina/etiología , Retina , Fluocinolona AcetonidaRESUMEN
OBJECTIVE: Surgical repair of complex tractional retinal detachments (TRDs) can be challenging due to the difficulty in delineating the fibroglial membranes from the underlying retinal surface. We describe the visual and retinal reattachment rate with the intraoperative use of trypan blue (TB) to visualize proliferative fibrous membranes in patients with TRDs. DESIGN: Retrospective study. PARTICIPANTS: Seventeen patients who underwent a pars plana vitrectomy for surgical TRD repair with TB use between January 1, 2005, and December 31, 2020. METHODS: Patient charts were retrospectively evaluated for surgical details, preoperative and postoperative logMAR best-corrected visual acuity (BCVA) and status of retinal attachment om days 30 and 90 and at the most recent follow-up visit. RESULTS: In the cohort of 17 patients, TRDs were found to be secondary to proliferative diabetic retinopathy, complications from endophthalmitis, open globe injury, and neovascularization secondary to a retinal vein occlusion. Mean ± SD preoperative BCVA was 1.7 ± 1.7 logMAR (Snellen, 20/1000), whereas postoperative BCVA at the most recent follow-up visit was 1.4 ± 1.2 logMAR (Snellen, 20/500). The use of TB was successful in delineating the proliferative preretinal membranes in 100% of patients, with no residual staining of posterior segment tissues or adverse reactions related to the dye noted at postoperative visits. Eighty-eight percent (15 of 17) and 76% of retinas (13 of 17) were attached at postoperative month 3 and 6 visits, respectively. CONCLUSION: TB can be a useful adjunct tool to visualize and allow for a thorough removal of tractional fibrous proliferative epiretinal membranes in patients with complex TRDs, possibly yielding better surgical and long-term reattachment outcomes.
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Background: Iron overload cardiomyopathy (IOC) is a major co-morbidity of genetic hemochromatosis and secondary iron overload with limited therapeutic options. We aim to investigate mechanisms of rescue action of amlodipine in the murine model of iron overload, characterize changes in human cardiac tissue due to IOC, and compare them to the changes in the animal model of IOC. Methods and results: As an animal model, we used male hemojuvelin knockout (HJVKO) mice, which lacked hemojuvelin (a co-receptor protein for hepcidin expression). The mice were fed a high-iron diet from 4 weeks to 1 year of age. As a rescue, iron-fed mice received the Ca2+ channel blocker, amlodipine, from 9 to 12 months. Iron overload resulted in systolic and diastolic dysfunctions and changes in the cardiac tissue similar to the changes in the explanted human heart with IOC. An IOC patient (ß-thalassemia) with left-ventricular ejection fraction (LVEF) 25% underwent heart transplantation. The murine model and the explanted heart showed intra-myocyte iron deposition, fibrosis, hypertrophy, oxidative stress, remodeling of Ca2+ cycling proteins, and metabolic kinases typical of heart failure. Single-myocyte contractility and Ca2+ release were diminished in the murine model. The amlodipine-treated group exhibited normalization of cellular function and reversed fibrosis, hypertrophy, oxidative stress, and metabolic remodeling. We also report a clinical case of primary hemochromatosis successfully treated with amlodipine. Conclusions: The aged HJVKO murine model on the iron-rich diet reproduced many features of the human case of IOC. The use of amlodipine in the murine model and clinical case reversed IOC remodeling, demonstrating that amlodipine is effective adjuvant therapy for IOC.
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The prognosis and treatment outcomes of heart failure (HF) patients rely heavily on disease etiology, yet the majority of underlying signaling mechanisms are complex and not fully elucidated. Phosphorylation is a major point of protein regulation with rapid and profound effects on the function and activity of protein networks. Currently, there is a lack of comprehensive proteomic and phosphoproteomic studies examining cardiac tissue from HF patients with either dilated dilated cardiomyopathy (DCM) or ischemic cardiomyopathy (ICM). Here, we used a combined proteomic and phosphoproteomic approach to identify and quantify more than 5,000 total proteins with greater than 13,000 corresponding phosphorylation sites across explanted left ventricle (LV) tissue samples, including HF patients with DCM vs. nonfailing controls (NFC), and left ventricular infarct vs. noninfarct, and periinfarct vs. noninfarct regions of HF patients with ICM. Each pair-wise comparison revealed unique global proteomic and phosphoproteomic profiles with both shared and etiology-specific perturbations. With this approach, we identified a DCM-associated hyperphosphorylation cluster in the cardiomyocyte intercalated disc (ICD) protein, αT-catenin (CTNNA3). We demonstrate using both ex vivo isolated cardiomyocytes and in vivo using an AAV9-mediated overexpression mouse model, that CTNNA3 phosphorylation at these residues plays a key role in maintaining protein localization at the cardiomyocyte ICD to regulate conductance and cell-cell adhesion. Collectively, this integrative proteomic/phosphoproteomic approach identifies region- and etiology-associated signaling pathways in human HF and describes a role for CTNNA3 phosphorylation in the pathophysiology of DCM.
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Cardiomiopatía Dilatada , Insuficiencia Cardíaca , Animales , Ratones , Humanos , Cardiomiopatía Dilatada/metabolismo , Ventrículos Cardíacos/metabolismo , Fosforilación , Proteómica , Miocardio/metabolismo , Insuficiencia Cardíaca/metabolismo , alfa Catenina/metabolismoRESUMEN
Cerebral air embolism (CAE) is a rare entity and is more often secondary to iatrogenic causes. We present a rare case of CAE post esophagogastroduodenoscopy (EGD) with a shower of emboli resulting in diffuse cortical infarction. An 80-year-old man with gastroesophageal reflux disease underwent an elective EGD for esophageal dilatation. During the procedure, there was significant arterial and venous bleeding which subsided with treatment. After the procedure, the patient became comatose with the decerebrate extensor posturing to painful stimulation. Computed tomography without contrast revealed multiple foci of CAE. Diffusion-weighted magnetic resonance images performed at the same time showed numerous areas of acute ischemic lesions affecting primarily the Gray Matter, demonstrating both cortical micro air emboli and bi-hemispheric, global hypoperfusion leading to cortical ribboning pattern. There have been less than 22 cases of CAE after EGD in the literature, most of which were middle cerebral arterial territory infarctions. Our clinical images represent one of the extremely rare cases showing a shower of emboli and global hypoperfusion-induced gray matter infarction due to CAE-causing brain herniation.
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PURPOSE: Foveal herniation occurs when neuroretinal tissue protrudes through and above the level of an epiretinal membrane. This study describes the visual symptoms and spectral domain optical coherence tomography findings associated with foveal herniation and evaluates the postoperative visual, anatomical, and surgical outcomes. METHODS: A multicenter retrospective review of patients diagnosed with epiretinal membrane identified 59 patients with preoperative foveal herniation on spectral domain optical coherence tomography. Data regarding visual symptoms, preoperative and postoperative best-corrected visual acuity (BCVA), central retinal thickness, macular volume, and size of foveal herniation were collected, and statistical analysis was performed. RESULTS: A total of 58 of the 59 patients with foveal herniation underwent surgical epiretinal membrane peeling, with foveal contour restored in 53.5% of patients after surgery. Average BCVA improved from 20/80 to 20/40 Snellen equivalent at most-recent postoperative visit (P < 0.0001). The average central retinal thickness decreased from 632 µm to 432 µm (P < 0.0001) and the average macular volume decreased from 11.3 mm3 to 9.5 mm3 (P < 0.0001) at 3 months postoperatively. Preoperatively, greater herniation height was associated with worse BCVA (P = 0.008), greater central retinal thickness (P = 0.01), retinoschisis, cystoid macular edema, foveolar detachment, ellipsoid zone abnormality, and external limiting membrane abnormalities (P < 0.05). Postoperatively, there was a decrease in retinoschisis, cystoid macular edema, foveolar detachment, ellipsoid zone, and external limiting membrane abnormality (P < 0.05) on spectral domain optical coherence tomography. CONCLUSION: Patients with larger foveal herniation height had greater preoperative central retinal thickness, worse preoperative and postoperative BCVA, and more intraretinal abnormalities on spectral domain optical coherence tomography. Surgical epiretinal membrane peeling in patients with foveal herniation resulted in a significant improvement in patients' BCVA and microstructural abnormalities.
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Membrana Epirretinal , Edema Macular , Retinosquisis , Humanos , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/cirugía , Edema Macular/diagnóstico , Edema Macular/etiología , Edema Macular/cirugía , Retinosquisis/cirugía , Vitrectomía/métodos , Tomografía de Coherencia Óptica/métodos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
PURPOSE: The purpose of this study is to compare the use of metformin in patients with both exudative and non-exudative age-related macular degeneration (AMD) versus control populations. DESIGN: Retrospective review of three age- and sex-matched cohorts from 1/1/2004 to 12/31/2013: patients with exudative AMD, a cohort of dry AMD patients, and a cohort of patients without AMD. The primary endpoint was the incidence of metformin use in all of the cohorts. RESULTS: There were 1512 patients, with 504 in each of the three cohorts. There was no difference in the prevalence of diabetes between cohorts. Compared to patients with dry AMD, patients with no AMD had increased likelihood of metformin use (p = 0.0168, OR 1.66 (1.09-2.51). There was no difference in the likelihood of metformin use between exudative AMD patients and non-AMD controls. CONCLUSIONS: There appears to be an increased incidence of metformin use in patients without AMD compared to patients with dry AMD. Metformin's current role in the treatment of anti-aging diseases makes it a plausible target for use in the treatment of AMD, particularly dry AMD.
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Oftalmopatías , Atrofia Geográfica , Degeneración Macular , Humanos , Incidencia , Minnesota/epidemiología , Degeneración Macular/tratamiento farmacológico , Degeneración Macular/epidemiología , Estudios RetrospectivosRESUMEN
Aims: This study aims to explore the prevalence of mobile phone use among young children aged 6 months to 4 years. We studied the usage patterns, optimal age for use, and the attitudes of parents toward their child's mobile phone use. Methods: We conducted a cross-sectional study in a pediatric OPD of a tertiary teaching hospital for a period of 2-months. Ethics committee approval and informed consent was taken before conducting the research. A predesigned and validated questionnaire was used to collect data. We calculated a sample size of 90 children at a 95% confidence level. Chi-square test and Fischer's exact test were used as a test of significance at 5% level of significance. Results: We observed that 73.34% of children were using mobile phones and mobile phone usage increased with age. Children used mobile phones for educational purposes (43.9%), and for less than an hour a day (57.6%). In the 3-4 year age group, 19% used mobile phones for 3 hours or more. While 93.3% of parents felt they shouldn't give their child a phone, 71.4% children of these parents still used one. Conclusions: Our study highlights a high prevalence of mobile phone use among young children aged 6 months to 4 years. Although parents aimed to limit their child's phone usage, the reality was different. We recommend that guidelines on mobile phone use be followed in India.
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PURPOSE: To examine the risk, prevalence, and progression of glaucoma development in age-related macular degeneration (AMD) eyes receiving intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections compared to controls. DESIGN: Retrospective clinical cohort study. METHODS: Retrospective review of eyes receiving intravitreal anti-VEGF injections from January 1, 2004, to December 31, 2013, for exudative AMD. Age- and sex-matched control groups of eyes included eyes with nonexudative AMD (NEAMD) and no AMD. Eyes with a diagnosis of glaucoma or glaucoma suspect were reviewed for injection details, type and date of glaucoma diagnosis, glaucoma treatments, standard automated perimetry (SAP), and spectral domain optical coherence tomography (SD-OCT). Qualitative progression was determined by indication of glaucoma progression in provider notes. Quantitative progression was assessed based on change in mean deviation (MD) on SAP, retinal nerve fiber layer thickness on SD-OCT, and intraocular pressure (IOP). RESULTS: There were 707 eyes of 504 patients treated with anti-VEGF injections and 1008 eyes in the NEAMD and no-AMD cohorts. There was no difference in glaucoma or suspect prevalence at initial presentation between eyes treated with injections and NEAMD (6.9% vs 9.7%, P = .22) or no-AMD controls (vs 8.5%, P = .55). There was no difference in cumulative 5-year probability of new glaucoma diagnosis after anti-VEGF injections compared to NEAMD (1.9% vs 1.0%, P = .69) or no-AMD controls (vs 1.6%, P = .88). There was no difference in qualitative progression of glaucoma in the injection cohort vs NEAMD (P = .19) or no-AMD controls (P = .61). The rate of MD change in injection eyes was similar to NEAMD eyes (P = .74) but greater than no-AMD eyes (P = .02). Eyes receiving injections required more topical glaucoma medications compared with NEAMD (P = .03) and more glaucoma laser treatments compared with no-AMD controls (P = .009). Eyes receiving injections did not require more frequent incisional glaucoma surgery compared with NEAMD (21.0% vs 15.0%, P = .95) or no-AMD controls (vs 10.0%, P = .10). CONCLUSION: Eyes treated with intravitreal anti-VEGF injections for exudative AMD did not have increased risk of developing glaucoma compared with controls. Of those with a glaucoma diagnosis, exudative AMD eyes receiving injections required a greater number of topical glaucoma medications compared with NEAMD eyes and had a greater rate of MD loss than no-AMD controls.
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Glaucoma , Degeneración Macular , Degeneración Macular Húmeda , Humanos , Factores de Crecimiento Endotelial , Estudios Retrospectivos , Prevalencia , Estudios de Cohortes , Inhibidores de la Angiogénesis/uso terapéutico , Factor A de Crecimiento Endotelial Vascular , Inyecciones Intravítreas , Glaucoma/diagnóstico , Tomografía de Coherencia Óptica/métodos , Degeneración Macular/tratamiento farmacológico , Degeneración Macular Húmeda/diagnóstico , Degeneración Macular Húmeda/tratamiento farmacológico , Degeneración Macular Húmeda/epidemiología , Ranibizumab/uso terapéuticoRESUMEN
To understand the altered developmental changes and associated gene expression in inter-genomic combinations, a study was planned in two diverse yet closely related species of Ocimum, targeting their hybrid F1 and amphidiploids. The existing developmental variations between F1 and amphidiploids was analyzed through phenotypical and anatomical assessments. The absence of 8330 transcripts of F1 in amphidiploids and the exclusive presence of two transcripts related to WNK lysine-deficient protein kinase and geranylgeranyl transferase type-2 subunit beta 1-like proteins in amphidiploids provided a set of genes to compare the suppressed and activated functions between F1 and amphidiploids. The estimation of eugenol and methyleugenol, flavonoid, lignin and chlorophyll content was correlated with the average FPKM and differential gene expression values and further validated through qRT-PCR. Differentially expressed genes of stomatal patterning and development explained the higher density of stomata in F1 and the larger size of stomata in amphidiploids. Gene expression study of several transcription factors putatively involved in the growth and developmental processes of plants clearly amalgamates the transcriptome data linking the phenotypic differences in F1 and amphidiploids. This investigation describes the influence of interspecific hybridization on genes and transcription factors leading to developmental changes and alleviation of intergenomic instability in amphidiploids.
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PURPOSE: To report outcomes of patients presenting to the emergency department (ED) with new-onset visual flashes and/or floaters following implementation of a formalized triage protocol allowing eligible patients to be discharged for prompt outpatient ophthalmic examination. DESIGN: Retrospective consecutive case series. METHODS: Patient characteristics, protocol eligibility, and clinical outcomes were recorded for adult patients triaged within a formal "flashes and floaters" protocol at a single academic ED. RESULTS: A total of 457 patients presented for 471 unique ED encounters with a chief complaint of visual flashes and/or floaters between October 2014 and May 2018. In all, 61% of patient encounters (287/471) met protocol criteria for prompt outpatient ophthalmic examination, of whom 94% (269/287) were examined within 48 hours. Final diagnoses of protocol-eligible patients were posterior vitreous detachment only (73%, 197/269), retinal break(s) (10%, 26/269), migraine (5%, 14/269), and no cause or new cause found (10%, 27/269). No protocol-eligible patients had retinal detachment or diagnoses requiring emergent diagnostic or therapeutic care (0%, 95% CI = 0%-1.1%). Final diagnoses following 175 encounters not meeting criteria for deferred examination included posterior vitreous detachment only (25%, 43/175), retinal break(s) (19%, 33/175), macula-involving retinal detachment (13%, 22/175), macula-sparing retinal detachment (11%, 19/175), retinal arterial occlusion (2%, 3/175), and stroke (0.6%, 1/175). The Cohen kappa for agreement on protocol eligibility between the ED physician and ophthalmologist was 0.85. CONCLUSIONS: A formalized ED "flashes and floaters" triage protocol may help identify patients for whom prompt outpatient ophthalmic examination may be more safely considered.
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Desprendimiento de Retina , Enfermedades de la Retina , Perforaciones de la Retina , Desprendimiento del Vítreo , Adulto , Servicio de Urgencia en Hospital , Humanos , Desprendimiento de Retina/diagnóstico , Enfermedades de la Retina/complicaciones , Perforaciones de la Retina/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , Triaje , Trastornos de la Visión/complicaciones , Desprendimiento del Vítreo/diagnósticoRESUMEN
Left ventricular assist device (LVAD) use in patients with dilated cardiomyopathy (DCM) can lead to a differential response in the LV and right ventricle (RV), and RV failure remains the most common complication post-LVAD insertion. We assessed transcriptomic signatures in end-stage DCM, and evaluated changes in gene expression (mRNA) and regulation (microRNA/miRNA) following LVAD. LV and RV free-wall tissues were collected from end-stage DCM hearts with (n = 8) and without LVAD (n = 8). Non-failing control tissues were collected from donated hearts (n = 6). Gene expression (for mRNAs/miRNAs) was determined using microarrays. Our results demonstrate that immune response, oxygen homeostasis, and cellular physiological processes were the most enriched pathways among differentially expressed genes in both ventricles of end-stage DCM hearts. LV genes involved in circadian rhythm, muscle contraction, cellular hypertrophy, and extracellular matrix (ECM) remodelling were differentially expressed. In the RV, genes related to the apelin signalling pathway were affected. Following LVAD use, immune response genes improved in both ventricles; oxygen homeostasis and ECM remodelling genes improved in the LV and, four miRNAs normalized. We conclude that LVAD reduced the expression and induced additional transcriptomic changes of various mRNAs and miRNAs as an integral component of the reverse ventricular remodelling in a chamber-specific manner.
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Cardiomiopatía Dilatada/metabolismo , Corazón Auxiliar/efectos adversos , Transcriptoma , Adulto , Cardiomiopatía Dilatada/patología , Cardiomiopatía Dilatada/terapia , Femenino , Ventrículos Cardíacos/metabolismo , Humanos , Masculino , Persona de Mediana EdadRESUMEN
PURPOSE: New-onset persistent diplopia has become a common complication after glaucoma drainage device (GDD) placement. Understanding the orbital anatomy of such patients may provide information regarding risk of diplopia, GDD selection, and post-operative management. The purpose of this study was to examine the orbital anatomic differences in diplopic and non-diplopic patients after GDD implantation using high-resolution MRI. METHODS: Seven eyes (N = 4 with diplopia and N = 3 without diplopia after GDD placement) of seven patients that had undergone placement of Baerveldt 250 (B250), Baerveldt 350 (B350), or Ahmed FP7 (FP7) GDD were prospectively enrolled at a single institution. All patients underwent a 3.0T orbital MRI with 3D volumetric T1 and T2 weighted sequence. Images were analyzed for orbital volume, axial length, orbital distances, presence of superior rectus-lateral rectus (SR-LR) band, position of GDD, and SR-LR angles. RESULTS: Patients with diplopia had smaller mean ± SD orbital axial (911.5 ± 111.8 mm3 vs 931.7 ± 79.7 mm3) and coronal volumes (1162.5 ± 145.5 mm3 vs 1180 ± 34.6 mm3) compared to non-diplopic patients. Average orbital rim distances were larger for the diplopic group. The SR-LR displacement angle for diplopic patients was larger (101.6° ± 8.1 vs 94.7° ± 17.6) while the SR-LR quadrantic angle (86.6° ± 4.2 vs 89.1° ± 4.3) was smaller. SR-LR band was present and intact in all patients. GDD malpositioning was not evident in any patient. CONCLUSION: The decreased orbital axial and coronal volumes as well as increased orbital rim distances in diplopic patients suggests the need for further studies to understand the role of orbital anatomy in occurrence of diplopia. Dynamic MRI imaging may be helpful in identifying differences in extraocular muscle function that reveal an etiology of diplopia in patients with GDD implantation.
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Implantes de Drenaje de Glaucoma , Glaucoma , Diplopía/etiología , Humanos , Presión Intraocular , Imagen por Resonancia Magnética , Músculos Oculomotores/diagnóstico por imagen , Músculos Oculomotores/cirugía , Estudios RetrospectivosRESUMEN
PURPOSE: To report a case of pigmented paravenous retinochoroidal atrophy in a patient that was found to have an autosomal dominant pathogenic variant of the hexokinase 1 ( HK1 ) gene. METHODS: A case report. RESULTS: A 41-year-old White woman with a distant family history of retinitis pigmentosa presented with a 5-year history of bilateral blurry and decreased vision that led to eventual loss of ability to drive. Color funduscopic photographs revealed retinochoroidal atrophy, hyper-reflective spots within the retina, and a paravenous distribution of pigment bilaterally. Given the patient's familial ocular history and workup, she was diagnosed with inherited retinal degeneration with phenotype suggestive of pigmented paravenous retinochoroidal atrophy. Genetic testing revealed a single rare variant, c.2551 G>A in the HK1 gene. DISCUSSION: This case describes a pathogenic variant in HK1 , a gene that has been associated with RP, but has not been previously reported in association with the pigmented paravenous retinochoroidal atrophy phenotype. This expands the phenotypes associated with HK1 pathogenic variant, p.Glu851Lys, and the genetic association of pigmented paravenous retinochoroidal atrophy to include HK1 . Although pigmented paravenous retinochoroidal atrophy has been previously reported to be associated with CRB1 gene, no previous relationship to the HK1 gene has been described.
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Degeneración Retiniana , Vena Retiniana , Femenino , Humanos , Degeneración Retiniana/diagnóstico , Degeneración Retiniana/genética , Degeneración Retiniana/patología , Coroides/patología , Hexoquinasa/genética , Angiografía con Fluoresceína , Vena Retiniana/patología , Atrofia/patología , Proteínas del Ojo , Proteínas de la Membrana , Proteínas del Tejido NerviosoRESUMEN
ABSTRACT: Esthesioneuroblastoma is a rare neoplasm originating from the olfactory neuroepithelium at the cribriform plate. The superior nasal cavity is primarily affected. Morbidity and mortality are related to locally destructive growth as well as metastatic potential. Orbital involvement is associated with decreased survival. The authors describe a case of advanced esthesioneuroblastoma with bilateral orbital involvement, presenting with a rare constellation of orbital hypertelorism and Foster-Kennedy Syndrome.