corneal opacity/offita

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Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome.

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Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea,

Clinical evaluation of corneal diseases associated with floppy eyelid syndrome.

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We examined 18 cases of floppy eyelid syndrome, first reported in the Orient, in patients ranging in age from 11 to 55 years (mean 24 years); 16 were men and two were women. In contrast to previous reports in which almost all patients were obese men, only three of our patients were mildly obese. The

[Co-occurrence of Carpenter syndrome and double outlet right ventricle].

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Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may

GeneReviews®

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Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease

Adverse Effect Profile of Topical Ocular Administration of Fingolimod for Treatment of Dry Eye Disease.

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Fingolimod is a promising prodrug in attenuating multiple sclerosis and prolonging survival of organ allograft, with many other protective effects. Its mechanism of action is related to the internalization of sphingosine 1-phosphate receptors (S1PRs). Our previous study indicated that fingolimod

Short-term influence of cataract surgery on circadian biological rhythm and related health outcomes (CLOCK-IOL trial): study protocol for a randomized controlled trial.

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BACKGROUND Light information is the most important cue of circadian rhythm which synchronizes biological rhythm with external environment. Circadian misalignment of biological rhythm and external environment is associated with increased risk of depression, insomnia, obesity, diabetes, cardiovascular

Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease.

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BACKGROUND The concentration of HDL cholesterol is inversely correlated with the risk of coronary heart disease (CHD). Some rare mutations in the apolipoprotein (apo) A-I gene are associated with low levels of HDL cholesterol. Their association with cardiovascular risk is controversial. RESULTS We

Ocular malformation in a newborn secondary to maternal hypovitaminosis A.

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We report a case of microphthalmia, inferior adherent leukoma, and optic nerve hypoplasia in an infant whose mother underwent biliopancreatic diversion surgery for obesity 7 years before his birth. The pregnancy was complicated by severe, maternal hypovitaminosis A despite oral supplementation. The

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Herbal & Natural Medicine

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