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The American Journal of Cardiology Apr 2021Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature...
Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. The relation between SVAS and the risk of premature death in patients with HoFH has not been fully investigated. The present study analysis included 97 HoFH patients with mean age of 14.7 (years) from the Genetic and Imaging of Familial Hypercholesterolemia in Han Nationality Study. During the median (±SD) follow-up 4.0 (±4.0) years, 40 (41.2%) participants had SVAS and 17 (17.5%) participants experienced death. The proportion of premature death in the non-SVAS and SVAS group was 7.0% and 32.5%, respectively. Compared with the non-SVAS group, SVAS group cumulative survival was lower in the HoFH (log-rank test, p <0.001). This result was further confirmed in the multivariable Cox regression models. After adjusting for age, sex, low density lipoprotein cholesterol (LDL_C)-year-score, lipid-lowering drugs, cardiovascular disease, and carotid artery plaque, SVAS was an independent risk factor of premature death in HoFH on the multivariate analysis (hazard ratio 4.45; 95% confidence interval, 1.10 to 18.12; p = 0.037). In conclusion, a significantly increased risk of premature death was observed in HoFH patients with SVAS. Our study emphasized the importance of careful and aggressive management in these patients when appropriate.
Topics: Adolescent; Adult; Aortic Stenosis, Supravalvular; Apolipoprotein B-100; Arcus Senilis; Carotid Stenosis; Case-Control Studies; Cause of Death; Child; Child, Preschool; Echocardiography; Female; Follow-Up Studies; Homozygote; Humans; Hyperlipoproteinemia Type II; Hypolipidemic Agents; Infant; Male; Mortality, Premature; Multivariate Analysis; Proportional Hazards Models; Proprotein Convertase 9; Receptors, LDL; Risk; Risk Factors; Xanthomatosis; Young Adult
PubMed: 33454344
DOI: 10.1016/j.amjcard.2020.12.080 -
Journal of Biomedical Physics &... Aug 2020Arcus Senilis (AS) appears as a white, grey or blue ring or arc in front of the periphery of the iris, and is a symptom of abnormally high cholesterol in patients under...
BACKGROUND
Arcus Senilis (AS) appears as a white, grey or blue ring or arc in front of the periphery of the iris, and is a symptom of abnormally high cholesterol in patients under 50 years old.
OBJECTIVE
This work proposes a deep learning approach to automatic recognition of AS in eye images.
MATERIAL AND METHODS
In this analytical study, a dataset of 191 eye images (130 normal, 61 with AS) was employed where ¾ of the data were used for training the proposed model and ¼ of the data were used for test, using a 4-fold cross-validation. Due to the limited amount of training data, transfer learning was conducted with AlexNet as the pretrained network.
RESULTS
The proposed model achieved an accuracy of 100% in classifying the eye images into normal and AS categories.
CONCLUSION
The excellent performance of the proposed model despite limited training set, demonstrate the efficacy of deep transfer learning in AS recognition in eye images. The proposed approach is preferred to previous methods for AS recognition, as it eliminates cumbersome segmentation and feature engineering processes.
PubMed: 32802798
DOI: 10.31661/jbpe.v0i0.2003-1080 -
QJM : Monthly Journal of the... Aug 2021
Topics: Arcus Senilis; Cornea; Dyslipidemias; Humans
PubMed: 32770245
DOI: 10.1093/qjmed/hcaa236 -
Indian Journal of Ophthalmology Oct 2019
Topics: Aged; Arcus Senilis; Cataract; Cataract Extraction; Cornea; Humans; Male; Visual Acuity
PubMed: 31546532
DOI: 10.4103/ijo.IJO_402_19 -
Australian Journal of General Practice Sep 2019
Topics: Anticholesteremic Agents; Arcus Senilis; Cholesterol; Cholesterol, LDL; Coronary Disease; Diet; General Practice; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Life Style; Medical History Taking; Phenotype; Risk Reduction Behavior; Xanthomatosis
PubMed: 31476827
DOI: 10.31128/AJGP-04-19-4910 -
Ocular Oncology and Pathology Nov 2018Xanthelasma is an unreliable indicator of systemic hyperlipidemia. A review in search of unusual histopathologic features of cellular composition that might correlate...
BACKGROUND/AIMS
Xanthelasma is an unreliable indicator of systemic hyperlipidemia. A review in search of unusual histopathologic features of cellular composition that might correlate with systemic hyperlipidemia was conducted.
METHODS
An observational case series of 3 cases was performed. Slides were stained and analyzed with hematoxylin and eosin, Masson trichrome, and periodic acid-Schiff as well as for iron. Three lesions displayed an atypical morphologic finding and were subjected to immunohistochemical analysis for CD3, CD20, CD68, CD163, S100, and adipophilin.
RESULTS
The three lesions comprised in this study had classical xanthoma cells with densely packed fine vacuoles. The xanthoma cells were CD68, CD163, and adipophilin positive and S100 negative. In case 1, extracellular, nonpolarizing cholesterol crystalloids displayed totally negative staining for all biomarkers. In cases 2 and 3, the cholesterol granulomas were surrounded and permeated by CD68- or CD163-positive epithelioid and giant cells and by CD3-positive T lymphocytes. The 3 cases each harbored squamous cysts.
CONCLUSION
In case 1, the uninflamed extracellular cholesterol crystalloids were associated with severely dysregulated systemic hyperlipidemia. In cases 2 and 3, the cholesterol granulomas were interpreted as a local manifestation of a cyst that might have partially ruptured and did not portend serious hyperlipidemia.
PubMed: 30574485
DOI: 10.1159/000486532 -
Journal Francais D'ophtalmologie Dec 2018The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation...
INTRODUCTION
The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation unidentified until now.
CASE REPORT
We present a series of 3 cases, all first-degree relatives with no suggestion of consanguinity, of different ages (30, 40 and 59 years) and two distinct generations (mother and children). Slit lamp examination revealed the same lesions in our three patients: an early-onset corneal arcus senilis, central corneal deposits, and a gray stromal haze in the two oldest subjects. The older the patient, the more numerous and dense were these lesions. The various anterior segment OCTs showed an increase in the number of hyperreflective opacities in the anterior stroma and, in the older subject, the appearance of many posterior shadows. Monitoring of pachymetry by Pentacam showed progressive age-related thickening. All three patients had dyslipidemia treated with statins or diet alone. In our case we proposed treatment only to subject A because of the significant impact on her visual acuity.
DISCUSSION
Numerous clinical, para-clinical and genetic descriptions of this disease are found in the literature. Schnyder dystrophy is rare but not unheard of and may be discovered fortuitously or in the setting of decreased visual acuity. Genetic analysis of our family revealed a mutation of the UBIAD1 gene not described in the literature. UBIAD1 encodes the protein domain-containing UbiA prenyltransferase 1 which converts vitamin K1 into K2 and is involved in the cholesterol synthesis pathway. In the case of a mutation, it is no longer functional, leading to the accumulation of cholesterol crystals. Given the clinical context and the presence of this variant of the reference sequence in all relatives, its pathogenesis is strongly suspected in our family. The originality of our article is to present the progression of the same pathology in 3 patients with the same mutation at different ages and degrees of severity. This notion of progressive worsening and the need to treat late in the majority of cases are found in literature.
CONCLUSION
The discovery of a new variant within the UBAID1 gene suggests its pathogenesis in view of the clinical features available to us. The dystrophy is initially asymptomatic before the high number of deposits becomes disabling.
Topics: Adult; Corneal Dystrophies, Hereditary; DNA Mutational Analysis; Dimethylallyltranstransferase; Family; Female; France; Humans; Male; Middle Aged; Mutation, Missense; Pedigree
PubMed: 30446344
DOI: 10.1016/j.jfo.2018.03.010 -
Journal of AAPOS : the Official... Dec 2018A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial...
A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial hypercholesterolemia (FH). Genetic analysis detected biallelic pathogenic sequence variants c.1069G>A and c.2034C>A in the LDLR gene. There is significant cardiovascular morbidity and mortality associated with FH, hence early diagnosis and treatment is imperative.
Topics: Adult; Arcus Senilis; Child, Preschool; Cholesterol, LDL; Cornea; Female; Follow-Up Studies; Genetic Testing; Homozygote; Humans; Hyperlipoproteinemia Type II; Male; Phenotype
PubMed: 30179711
DOI: 10.1016/j.jaapos.2018.03.017 -
Anatolian Journal of Cardiology Sep 2018
Topics: Adult; Arcus Senilis; Atherosclerosis; Constriction, Pathologic; Coronary Angiography; Coronary Vessels; Humans; Hypercholesterolemia; Male; Xanthomatosis; Young Adult
PubMed: 30152805
DOI: 10.14744/AnatolJCardiol.2018.46504 -
BMJ Case Reports Jun 2018A 25-year-old male patient presented with complaints of blurred vision in both eyes since 2 years. The patient was a known case of nephrotic syndrome with dyslipidaemia...
A 25-year-old male patient presented with complaints of blurred vision in both eyes since 2 years. The patient was a known case of nephrotic syndrome with dyslipidaemia for which he was on diuretics and lipid-lowering agents for 3 years. On examination, his visual acuity was 6/9 in both eyes with cloudy cornea and arcus juvenilis. Fundus examination was within normal limits. On systemic work-up, his lipid profile was deranged with increased serum total cholesterol, very low density lipoprotein, low density lipoprotein and triglyceride. The serum high density lipoprotein was decreased. Renal function test revealed elevated serum creatinine with significant proteinuria. Renal biopsy was suggestive of dense deposit disease on immunofluorescence and transmission electron microscopy. Ocular manifestation of dense deposit disease is characterised by retinal drusen, pigmentary atrophy, choroidal neovascular membrane and atypical serous retinopathy. To the best of our knowledge, anterior segment changes in dense deposit disease has not been reported. This is the first case reporting cloudy cornea with arcus juvenilis in a case of dense deposit disease.
Topics: Adult; Arcus Senilis; Cornea; Glomerulonephritis, Membranoproliferative; Humans; Male; Vision Disorders
PubMed: 29950499
DOI: 10.1136/bcr-2018-224545