Search results for "Genetic Structures"
showing 10 items of 2107 documents
Ocular Phenotype of Relaxin Gene Knockout (Rln-/-) Mice
2020
Purpose: To test if relaxin deficiency affects ocular structure and function we investigated expression of relaxin (Rln) and RXFP receptors (Rxfp1, Rxfp2), and compared ocular phenotypes in relaxin gene knockout (Rln-/- ) and wild type (Rln+/+ ) mice. Materials and Methods: Rln, Rxfp1 and Rxfp2 mRNA expression was detected in ocular tissues of Rln+/+ mice using RT-PCR. The eyes of 11 Rln-/- and 5 Rln+/+ male mice were investigated. Corneal and retinal thickness was assessed using optical coherence tomography. Intraocular pressure was measured using a rebound tonometer. Retinal, choroidal and sclera morphology and thickness were evaluated histologically. Eyes were collected and fixed for imm…
The Lipofuscin Content of Nerve Cells of the Inferior Olivary Nucleus in Alzheimer's Disease
1994
Lipofuscin, the age pigment, is of interest in Alzheimer's disease because of its property to accumulate in neurons and because of the hypothesis that Alzheimer's dementia is a kind of premature ageing. The amount of intraneuronal lipofuscin in the inferior olivary nucleus of 20 brains from patients with histologically confirmed Alzheimer's disease according to the CERAD protocol and of 20 controls has been measured microfluorometrically. Patients and controls were matched for age. The amount of lipofuscin in the neurons of the inferior olivary nucleus did not differ significantly between the cases of Alzheimer's disease and the controls. The result is discussed taking the findings of previ…
Amyloidosis and Ocular Involvement: an Overview.
2019
Purpose: To describe the ophthalmic manifestations of amyloidosis and the corresponding therapeutic measures.Methods: The 178 patients included in the study had different types of amyloidosis, diagnosed at a single internal medicine institution (Bari, Italy). To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland).Results: Overall, ocular morbidity was detected in 41 of the 178 patients w…
New insights into autoantibody profiles from immune privileged sites in the eye: a glaucoma study.
2011
Glaucoma is a chronic neurodegenerative disease and one of the leading causes of blindness. Autoantibody based immune processes are assumed to be involved in its pathogenesis. However, it is still unclear to what extent autoantibody patterns found in the eye (aqueous humor) are congruent to systemic autoantibodies (blood). Consistency would underline the specificity of known serum antibody markers for glaucoma. In this study we used antigen microarrays to analyze autoantibody reactivities in sera and corresponding aqueous humor samples of primary open-angle glaucoma patients (N=37) and non-glaucomatous controls (N=31). Compared to control subjects several divergent immunoreactivities were i…
Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis.
1988
A 9-year-old boy who had died of infantile neuronal ceroid-lipofuscinosis had experienced retina-derived visual failure. Ophthalmologically and morphologically, his retina was severely atrophic and scarred by a dense fibrillary gliosis while photoreceptor cells had completely disappeared, cells of the bipolar layer had decreased in number and had become atrophic beyond cytologic recognition. Retinal pigment epithelial cells had undergone either atrophy or proliferation. Disease-specific granular lipopigments had accumulated in perikarya and processes of remaining cells and were infrequently associated with melanin within huge melanolipofuscin bodies and RPE cells of sessile and migrating na…
GE-25-like immunoreactivity in the rat eye.
2012
Abstract This study aimed to investigate the presence and distribution of the chromogranin A-derived peptide GE-25 in the rat eye. The molecular form detected by the GE-25 antiserum was evaluated in the rat trigeminal ganglion, retina and remaining tissues of the rat eye by means of Western blots and the distribution pattern of GE-25-like immunoreactivity was studied in the rat eye and rat trigeminal ganglion by immunofluorescence. One single band of approximately 70 kDa was stained in the trigeminal ganglion and retina which represents the uncleaved intact chromogranin A indicating that the proteolytic processing of chromogranin A to GE-25 is limited in these tissues. Sparse GE-25-like imm…
Branch Retinal Vein Occlusion Followed by Central Retinal Artery Occlusion in Churg-Strauss Syndrome: Unusual Ocular Manifestations in Allergic Granu…
2009
Purpose To describe a rare branch retinal vein occlusion (BRVO) followed by central retinal artery occlusion (CRAO) in a patient with Churg-Strauss syndrome (CSS). Methods A 55-year-old man with a not yet diagnosed CSS developed a BRVO in the left eye and 1 year later a CRAO with painless and acute vision loss in the same eye. Medical history included bronchial asthma, history of allergy, eosinophilic pneumonia, bilateral pleuric and pericardial effusion, hypereosinophilia, and purpuric vasculitis. Results CRAO in the left eye was diagnosed by retinal whitening and a cherry red spot with coexisting old BRVO evidenced by previous laser photocoagulation. Corticosteroids and cyclophosphamide t…
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
2014
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…
Comparison of myopic progression in Finnish and Singaporean children
2020
Purpose To compare 3-year myopic progression between Finnish and Singaporean children. Methods Myopic progression was compared between 9-year-old (mean age 9.7 ± 0.4 years, n = 92) and 11-year-old (mean age 11.7 ± 0.4 years, n = 144) Finnish (Finnish RCT) children and Singaporean children matched by age and refraction (SCORMMatched, n = 403) and 7- to 8-year-old Singaporean children matched only by refraction (SCORM Young, n = 186). Spherical equivalent (SE) was between −0.50 and −3.00 D. Refraction with cycloplegia was controlled annually for 3 years. Information on parental myopia, mother’s education, time spent on near-work and outdoor time was gathered by parental questionnaire. Results…
Finnish pupils' perceptions of health education as a school subject.
2014
Only a few countries have introduced health education (HE) as a stand-alone school subject. In Finland every pupil in basic education grades 7–9 takes three obligatory courses in HE. This study investigated Finnish pupils’ perceptions of the teaching and learning of HE. It also explored how school- and family-related background variables are associated with these perceptions. Nationally representative data were obtained from a 2010 school-based study on Health Behaviour in School-aged Children (HBSC). A total of 4262 pupils from 7th and 9th grades (13 and 15 years old) responded anonymously to the questionnaire. Logistic regression analysis was performed to identify the associations betwee…