Search results for "Atrophy"
showing 10 items of 385 documents
Design and Baseline Characteristics of the HELP Study: An Extended and Long-Term Observation of Pathological Myopia in Caucasians.
2017
<b><i>Purpose:</i></b> To assess the natural disease progression of high myopia in Caucasians considered at risk for the development of myopic choroidal neovascularization (mCNV). <b><i>Methods:</i></b> Subjects were recruited in 25 clinical sites between June 2014 and June 2016. Main inclusion criteria included axial length of ≥26 mm, best-corrected visual acuity ≥0.05 decimal equivalent and presence of at least one out of five predefined morphological disease risk criteria. These were (1) subfoveal choroidal thinning &#x3c; 50 µm, (2) enhanced choroidal curvature length &#x3e; 6,300 µm, (3) lacquer cracks, (4) patchy atrophy &#x3…
Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
2013
Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left…
Morphologic diagnosis in neuronal ceroid lipofuscinosis.
1997
Morphologic pathology in NCL is marked by two processes, the interaction of which has not yet been completely clarified: 1) degeneration of nerve cells, foremost in the cerebral cortex, resulting in considerable cerebral atrophy in early childhood forms, likely responsible for clinical and neuroradiological findings; 2) widespread accumulation of autofluorescent lysosomal lipopigments of varying ultrastructure, the demonstration of which is still largely responsible for diagnostic recognition of an individual patient's NCL. Numerous tissues and organs are available for biopsy, among them brain (historical), rectum (still favoured by some), skeletal muscle and peripheral nerves (largely by c…
Fixed Mydriatic Pupil Associated with an Intraocular Pressure Rise as a Complication of the Implant of a Phakic Refractive Lens (PRL)
2013
We describe a case report of a patient that was implanted with a posterior chamber phakic intraocular lens (Phakic Refractive Lens, PRL) for the correction of moderate myopia and who developed postoperatively a fixed mydriasis compatible with an Urrets-Zavalia Syndrome (UZS). Specifically, a sudden acute increase of IOP in the left eye was observed in the immediate postoperative period. After IOP stabilization, the refractive result was good, but a fixed and mydriatic pupil appeared. This condition led the patient to experience visual discomfort, halos, and glare associated with high levels of higher-order aberrations in spite of the good visual result. A tinted-contact lens was fitted in o…
Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations.
2019
Mitochondria are key players in cell death through the activation of the intrinsic apoptosis pathway. BNIP3 and BNIP3L/Nix are outer mitochondrial membrane bifunctional proteins which because of containing both BH3 and LIR domains play a role in cellular response to stress by regulation of apoptosis and selective autophagy. Leber’s Hereditary Optic Neuropathy (LHON) is the most common mitochondrial disease in adults, characterized by painless loss of vision caused by atrophy of the optic nerve. The disease in over 90% of cases is caused by one of three mutations in the mitochondrial genome: 11778G>A, 3460G>A or 14484T>C. The pathogenic processes leading to optic nerve degeneration …
Autoimmune enteropathy and colitis in an adult patient
2003
The presence of circulating autoantibodies to gut enterocytes has been very rarely described in adults and is considered a possible cause of refractory sprue. Our aims was to describe the case of an adult patient with serum anti-enterocyte autoantibodies associated with a clinical picture characterized by involvement of both the small intestine and colon. A female, age 50, had suffered from diarrhea with mucus and blood, abdominal pain, thinness, anemia, and leukopenia since the age of 20. She also suffered from HCV infection and had mild chronic hepatitis. Family history was positive for autoimmunity. Symptoms were reported to worsen after eating gluten-containing foods, but anti-transglut…
Simulating Images Seen by Patients with Inhomogeneous Sensitivity Losses
2012
PURPOSE We aim to simulate how colored images are perceived by subjects with local achromatic and chromatic contrast sensitivity losses in the visual field (VF). METHODS The spatiochromatic corresponding pair algorithm, introduced in a previous article (J Opt Soc Am (A) 2004;21:176-186), has been implemented with a linear model of the visual system. Spatial information is processed separately by the chromatic and achromatic mechanisms by means of a multiscale model, with sensors selective to frequency, orientation, and spatial position, whose mechanism-dependent relative weights change with the spatial location of the image. These weights have been obtained from perimetric data from a patie…
Activities of some antioxidative and hexose monophosphate shunt enzymes of skeletal muscle in neuromuscular diseases.
1986
The activities of some antioxidative and hexose monophosphate shunt enzymes, as well as of 2 hydrolases were studied in skeletal muscle biopsy specimens taken from 39 patients with neuromuscular diseases and from 15 controls. The activity of Se-dependent glutathione peroxidase was higher in patients with congenital myotonia, whereas in the other diagnostic groups this enzyme activity was the same as in the controls. The Se-independent and total glutathione peroxidase activity of patients in the various diagnostic groups did not differ from the controls. Moreover, no difference were observed in catalase activity between the patient groups and the controls. The activities of the rate limiting…
Force fluctuations during the Maximum Isometric Voluntary Contraction of the quadriceps femoris in haemophilic patients
2007
In the general population, the degenerative processes in joints are directly related to adult age, and osteoarthrosis represents the most frequent musculoskeletal alteration. In the haemophilic patient, the degenerative processes in the joint begin at very early ages, and are directly related to musculoskeletal bleeding episodes, which are occasionally subclinical and constitute haemophilic arthropathy. In the haemophilic patient, arthropathy constitutes the most frequent, severe and disabling pathology, and its assessment includes muscular force-related parameters. We have studied the value of Maximum Isometric Voluntary Contraction in the quadriceps femoris of 46 subjects, 28 haemophiliac…
Activation-Induced Rigidity in Neurologically and Cognitively Healthy Individuals Aged 18-90 Years: A Cross-Sectional Study.
2021
Background: Rigidity is a key clinical feature of Parkinson’s disease (PD), but in a very early phase of the disease it may be absent and can be enhanced through active movements of the arm contralateral to the one being tested. Objective: To evaluate in a large cohort of neurologically and cognitively healthy (NCH) subjects aged 18–90 years if activation-induced rigidity (AR) is present in all age classes, and if there are biological differences between subjects showing AR (AR+) and not showing AR (AR-). Methods: 2,228 NCH subjects categorized as young adult (18–44 years), adult (45–64 years), elderly (65–74 years), and old/oldest-old (75–90 years) were included in the analysis, and underw…