A case of leukemic retinopathy mimicking common ischemic retinopathies.
Ontology highlight
ABSTRACT:
SUBMITTER: Awuah A
PROVIDER: S-EPMC4736509 | biostudies-other | 2016 Feb
REPOSITORIES: biostudies-other
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| S-EPMC5418970 | biostudies-literature
Project description:PurposeTo describe the multimodal imaging and treatment of a 37-year-old male presenting with bilateral ischemic retinopathy induced by methamphetamine abuse.ObservationsA 37-year-old male presented with progressively deteriorating vision and was found to have branch retinal artery occlusion and central retinal vein occlusion in both eyes along with secondary vitreous hemorrhage in the left eye following seven years of intermittent intranasal methamphetamine abuse. Fundus fluorescein angiography and optical coherence tomography angiography revealed large areas of non-perfusion in the peripheral retina along with peripapillary neovascularization. Systemic evaluation revealed ischemic foci scattered in the deep brain on magnetic resonance angiography scanning. Based on the retinal findings, the patient was diagnosed with methamphetamine-induced ischemic retinopathy. He received panretinal photocoagulation, which improved the vision in the right eye and vitreous hemorrhage in the left eye. The vision in the left eye remained stable.Conclusions and importanceThis case highlights that intranasal methamphetamine abuse is associated with bilateral simultaneous central retinal vein occlusion and branch retinal artery occlusion. To our knowledge, extensive bilateral ischemic retinopathy has not been documented previously with newer modalities. In addition, PRP may be considered for the treatment of ischemic retinopathy induced by methamphetamine abuse.
| S-EPMC6551529 | biostudies-literature
Project description:BACKGROUND:The imaging findings of hypoglycemic encephalopathy can be considerably similar to those of ischemic infarction or toxic leukoencephalopathy. We demonstrated unusual magnetic resonance (MR) imaging features of hypoglycemic encephalopathy which can be confused with other pathology both on imaging and acute clinical presentation. The diffusion-weighted imaging (DWI) and apparent diffusion coefficients (ADC) map findings in our case further supports the hypothesis of hypoglycemia-induced "excitotoxic injury" of glial cells and myelin sheath that might protect neuron axons from intracellular edema and irreversible damage. CASE PRESENTATION:A 72-year-old woman presented with poor appetite and was initially drowsy at home; the symptoms progressed to loss of consciousness accompanied by mild incontinence. The initial glucose level was 44 mg/dL, but no nausea, vomiting, fever, or cold sweating was reported. Physical examination after intravenous glucose supplementation revealed the absence of focal neurological signs, facial palsy, and tongue or eye deviations. The images obtained 24 h after symptoms onset revealed symmetrical hyperintensities on DWI (b-value: 1000) associated with hypointensities on ADC map along the corticospinal tract, from the levels of the cerebral peduncle and the posterior limbs of the internal capsule to the level of the corona radiata, which may mimic the imaging findings of acute ischemic infarction or amyotrophic lateral sclerosis. The patient received sliding-scale insulin therapy and rehabilitation, and she recovered consciousness without motor function deficits after 1 month. Moreover, repeat DWI and ADC map showed the complete disappearance of the lesions. CONCLUSIONS:In the phenomenon of excitotoxic injury, axons could be protected from intracellular edema and irreversible damage, which may explain the reversible clinical symptoms and imaging abnormality after controlling for blood glucose because of the preserved motor axon. The diagnosis of acute symptomatic hypoglycemic encephalopathy through clinical and imaging features can be challenging. It is crucial to differentiate it from ischemic encephalopathy since the management and clinical outcome are different.
| S-EPMC6344988 | biostudies-literature
Project description:Proliferative diabetic retinopathy (PDR) is the most severe form of diabetic retinopathy and, along with diabetic macular edema, is responsible for the majority of blindness in adults below the age of 65. Therapeutic strategies for PDR are ineffective at curtailing disease progression in all cases; however a deeper understanding of the ocular metabolic landscape in PDR through metabolomic analysis may offer new therapeutic targets. Here, global and targeted mass spectrometry-based metabolomics were used to investigate metabolism. Initial analyses on vitreous humor from patients with PDR (n = 9) and non-diabetic controls (n = 11) revealed an increase of arginine and acylcarnitine metabolism in PDR. The oxygen-induced-retinopathy (OIR) mouse model, which exhibits comparable pathological manifestations to human PDR, revealed similar increases of arginine and other metabolites in the urea cycle, as well as downregulation of purine metabolism. We validated our findings by targeted multiple reaction monitoring and through the analysis of a second set of patient samples [PDR (n = 11) and non-diabetic controls (n = 20)]. These results confirmed a predominant and consistent increase in proline in both the OIR mouse model and vitreous samples from patients with PDR, suggesting that over activity in the arginine-to-proline pathway could be used as a therapeutic target in diabetic retinopathy.
| S-EPMC4651979 | biostudies-literature
Project description:Small molecular weight GTPases are master regulators of eukaryotic signalling, making them prime targets for bacterial virulence factors. Here, we review the recent advances made in understanding how bacterial type III secreted effector proteins directly activate GTPase signalling cascades. Specifically we focus on the SopE/WxxxE family of effectors that functionally mimic guanine nucleotide exchange factors (GEFs): the endogenous activators of Rho-family GTPases. Recent structural and biochemical studies have provided keen insight into both the signalling potency and substrate specificity of bacterial GEFs. Additionally, these bacterial GEFs display fascinating cell biological properties that provide insight into both host cell physiology and infectious disease strategies.
| S-EPMC3332549 | biostudies-literature
Project description:AimsIschemic retinal diseases such as retinopathy of prematurity are major causes of blindness due to damage to the retinal microvasculature. Despite this clinical situation, retinopathy of prematurity is mechanistically poorly understood. Therefore, effective preventative therapies are not available. However, hypoxic-induced increases in reactive oxygen species (ROS) have been suggested to be involved with NADPH oxidases (NOX), the only known dedicated enzymatic source of ROS. Our major aim was to determine the contribution of NOX isoforms (1, 2, and 4) to a rodent model of retinopathy of prematurity.ResultsUsing a genetic approach, we determined that only mice with a deletion of NOX1, but not NOX2 or NOX4, were protected from retinal neovascularization and vaso-obliteration, adhesion of leukocytes, microglial accumulation, and the increased generation of proangiogenic and proinflammatory factors and ROS. We complemented these studies by showing that the specific NOX inhibitor, GKT137831, reduced vasculopathy and ROS levels in retina. The source of NOX isoforms was evaluated in retinal vascular cells and neuro-glial elements. Microglia, the immune cells of the retina, expressed NOX1, 2, and 4 and responded to hypoxia with increased ROS formation, which was reduced by GKT137831.InnovationOur studies are the first to identify the NOX1 isoform as having an important role in the pathogenesis of retinopathy of prematurity.ConclusionsOur findings suggest that strategies targeting NOX1 have the potential to be effective treatments for a range of ischemic retinopathies.
| S-EPMC4026404 | biostudies-literature
Project description:ObjectiveTo describe functional and structural features of presumed cancer-associated retinopathy (CAR) mimicking sudden acquired retinal degeneration syndrome (SARDS) in dogs and describe treatment outcomes.AnimalsSubjects were 17 dogs from 8 eight US states and Canada diagnosed with SARDS or immune-mediated retinitis (IMR) by 12 ophthalmologists. Nine eyes from seven deceased patients were used for microarray (MA), histology, or immunohistochemical (IHC) analysis.ProceduresDogs underwent complete ophthalmic examination, including retinal photography, optical coherence tomography (OCT), chromatic pupil light reflex testing (cPLR), and electroretinography (ERG), in addition to complete systemic examination. Histology, microarray, and IHC analysis were performed in CAR retinas to evaluate histological and molecular changes in retinal tissue.ResultsNone of the patients evaluated satisfied previously established criteria for diagnosis of SARDS (flat ERG+ no red - good blue PLR), and all were diagnosed with IMR. All patients were diagnosed with a cancer: meningioma (24%), sarcoma (18%), pituitary tumor (12%), and squamous cell carcinoma (12%), other (34%). Median survival time was 6 months from diagnosis (range 1-36 months). Most frequent systemic abnormalities were as follows: proteinuria (78%); elevated liver enzymes (47%); and metabolic changes (PU/PD, polyphagia - 24%). Immunosuppressive therapy resulted in the reversal of blindness in 44% of treated patients, with 61% of all treated patients recovering and/or maintaining vision. Median time for preservation of vision was 5 months (range 1-35 months).ConclusionsObserved changes are highly suggestive of immune-mediated damage in IMR-CAR eyes. A relatively high percentage of patients with CAR responded positively to immunosuppressive therapy.
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Project description:Pericytes are mural cells that surround capillaries and control angiogenesis and capillary barrier function. During sprouting angiogenesis, endothelial cell-derived platelet-derived growth factor-B (PDGF-B) regulates pericyte proliferation and migration via the platelet-derived growth factor receptor-? (PDGFR?). PDGF-B overexpression has been associated with proliferative retinopathy, but the underlying mechanisms remain poorly understood. Here we show that abnormal, ?-SMA-expressing pericytes cover angiogenic sprouts and pathological neovascular tufts (NVTs) in a mouse model of oxygen-induced retinopathy. Genetic lineage tracing demonstrates that pericytes acquire ?-SMA expression during NVT formation. Pericyte depletion through inducible endothelial-specific knockout of Pdgf-b decreases NVT formation and impairs revascularization. Inactivation of the NCK1 and NCK2 adaptor proteins inhibits pericyte migration by preventing PDGF-B-induced phosphorylation of PDGFR? at Y1009 and PAK activation. Loss of Nck1 and Nck2 in mural cells prevents NVT formation and vascular leakage and promotes revascularization, suggesting PDGFR?-Y1009/NCK signaling as a potential target for the treatment of retinopathies.
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Project description:BACKGROUND:Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contractures are often the main presenting features of the disease and may be mistaken for juvenile scleroderma. CASE PRESENTATION:We report a case of a 13?year-old female presenting with widespread skin thickening and joint contractures from infancy. She was diagnosed with diffuse cutaneous systemic sclerosis, and treatment with corticosteroids and subcutaneous methotrexate recommended. There was however disease progression prompting genetic testing. This identified a rare heterozygous pathogenic variant c.1499?T?>?C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. Securing a molecular diagnosis in this case allowed the cessation of immunosuppression, thus reducing the burden of unnecessary and potentially harmful treatment, and allowing genetic counselling. CONCLUSION:Myhre Syndrome is a rare genetic mimic of scleroderma that should be considered alongside several other monogenic diseases presenting with pathological fibrosis from early in life. We highlight this case to provide an overview of these genetic mimics of scleroderma, and highlight the molecular pathways that can lead to pathological fibrosis. This may provide clues to the pathogenesis of sporadic juvenile scleroderma, and could suggest novel therapeutic targets.
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Project description:Dropped gallstones is a rare complication after a cholecystectomy. Computed tomography is the modality of choice for diagnosis. Dropped gallstones can be a fortuitous discovery in an asymptomatic patient but it is usually revealed when a complication occurs, most commonly through an abscess. Our case presents a dropped gallstone found during a routine check-up in a patient with a history of small bowel cancer. We will discuss differential diagnosis with others calcified peritoneal nodular patterns, particularly peritoneal carcinomatosis. We will recall the multimodality imaging findings of dropped gallstone and, based on literature, we will review the different sources of calcified peritoneal nodular pattern. The treatment of gallstone drop consequences depends on the clinical aspect.
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