Search results for "IGM"
showing 10 items of 1928 documents
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
2011
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…
Clinical Management of Cutaneous Adverse Events in Patients on Chemotherapy: A National Consensus Statement by the Spanish Academy of Dermatology and…
2019
Although the arrival of new chemotherapy drugs and combinations has brought progress in terms of cancer patient survival, they entail many adverse effects that can compromise treatment, and hence prognosis, of the disease. Cytostatic agents can cause dermatological toxicity, among other side effects. The most familiar adverse effect of chemotherapy is alopecia. Although not serious, this changes the outward appearance of cancer patients. Other adverse effects include hypersensitivity and photosensitivity reactions, hand-foot syndrome, epidermal necrolysis, recall reactions, scleroderma-like reactions, Raynaud's phenomenon, eccrine squamous syringometaplasia, neutrophilic eccrine hidradeniti…
Heritability of corneal refraction and corneal astigmatism: a population-based twin study among 66- to 79-year-old female twins.
2012
. Purpose: To examine the heritability of corneal refraction power (CR) and corneal astigmatism (AST) in older women. Methods: Corneal refraction and AST were measured by IOL master in 52 monozygotic (MZ) and 47 dizygotic (DZ) female twin pairs aged 66–79 years. The relative contribution of genetic and environmental factors to individual differences in CR was estimated by applying an independent pathway model to the twin data and AST by intraclass correlations (ICC). Results: For the right eye, mean CR was 44.58 dioptres (D) (standard deviation (SD) ±1.28) When comparing CR of the right and left eye between MZ and DZ, no significant difference was found. Mean AST was 0.77 D (SD ±0.44) wi…
Latanoprost-induced iris darkening: a morphometric study of human peripheral iridectomies.
2003
Abstract Purpose. This microscopic study was undertaken to compare the melanocytes of peripheral iridectomy specimens from two eyes that had latanoprost-induced iris darkening (LIID) with iridectomies taken from the fellow untreated eyes. Methods. The two patients in this study were the ones who underwent LIID in the latanoprost treated eye from a series of 17 patients requiring bilateral trabeculectomy. The first trabeculectomy procedure provided a control peripheral iridectomy for each patient, whereas the second eye was treated with once daily 50 μg ml−1 latanoprost drops for 6 months. The four peripheral iridectomy specimens from the two LIID patients were subjected to quantitative morp…
Implantation of a custom intraocular lens with a 30-diopter torus for the correction of high astigmatism after penetrating keratoplasty.
2003
Abstract We present a 62-year-old woman who had implantation of an intraocular lens (IOL) with a torus of 30.0 diopters (D) in an eye after penetrating keratoplasty. The patient presented with cataract and a best corrected visual acuity of 20/400. Penetrating keratoplasty was performed in 1975 because of decompensated keratoconus. With a clear but inferiorly decentered corneal graft, visual acuity was limited because of keratoplasty-related high corneal astigmatism of 22.5@156 that could not be successfully treated with spectacles or contact lenses. A custom toric IOL with –30.0 D of cylindrical power was implanted in the capsular bag via a sclerocorneal tunnel incision. Additionally, a sph…
Do nutritional supplements have a role in age macular degeneration prevention?
2013
Purpose. To review the proposed pathogenic mechanisms of age macular degeneration (AMD), as well as the role of antioxidants (AOX) and omega-3 fatty acids (ω-3) supplements in AMD prevention.Materials and Methods. Current knowledge on the cellular/molecular mechanisms of AMD and the epidemiologic/experimental studies on the effects of AOX andω-3 were addressed all together with the scientific evidence and the personal opinion of professionals involved in the Retina Group of the OFTARED (Spain).Results. High dietary intakes ofω-3 and macular pigments lutein/zeaxanthin are associated with lower risk of prevalence and incidence in AMD. The Age-Related Eye Disease study (AREDS) showed a benefic…
Induction of c-fos gene expression by the selective sigma receptor ligand EMD 57445 in rat brain.
1996
Based on animal studies it has been reasoned that ligands to sigma binding sites might be effective in the treatment of schizophrenic disorders and may also be used to investigate this largely elusive disorder on a molecular level. Expression patterns of c-fos in rat brain were studied following treatment with single doses of the sigma ligand EMD 57445 (0.3, 1, 3, 30 mg/kg s.c.). Specific c-fos gene expression was detected at all concentrations tested in various cortical areas. The signals observed were dose-dependent with the highest intensities in the piriform cortex. Strong signals were also detected in hippocampal areas CA 1,2,3 and the gyrus dentatus, as well as in the medial habenula …
Evaluation of Skin Melanoma in Spectral Range 450-950 nm Using Principal Component Analysis
2013
Diagnostic potential of principal component analysis (PCA) of multi-spectral imaging data in the wavelength range 450-950 nm for distant skin melanoma recognition is discussed. Processing of the measured clinical data by means of PCA resulted in clear separation between malignant melanomas and pigmented nevi.
Hyperpigmentation of hard palate induced by chloroquine therapy
2017
The antimalarials are one of the most commonly prescribed drugs for conditions such as lupus erythematosus and rheumatoid arthritis, and the side effects, though infrequent, are well known. The antimalarial agent chloroquine diphosphate usually causes pigmentary changes in the oral mucosa characterized by a bluish-grey to black discolorations mainly in the hard palate. Considering only the hard palate hyperpigmentation caused by chloroquine, to the best of our knowledge, only 13 cases have been reported in the English language literature. We described an additional case of palate hyperpigmentation related to the chronic use of chloroquine diphosphate in a 60-year-old Mexican woman. Although…
Pharmacological Characterization of Loss of Function Mutations of the Human Melanocortin 1 Receptor That Are Associated with Red Hair
2004
Variation in skin color is the major host risk factor for melanoma and other forms of skin cancer. Individuals with red hair show an increased ratio of phaeomelanin to eumelanin in both hair and skin. This ratio is regulated by the melanocortin (MC) 1 receptor. There are several common point mutations in the human MC1 receptor that are overrepresented in North European red-heads, and in individuals with pale skin. In order to determine the functional significance of these mutations, we expressed the Asp84Glu, Val92Met, Arg163Gln, and Asp294His variants of the human MC1 receptors in eukaryotic cells and determined their ability to bind alpha-melanocyte stimulating hormone (MSH) peptides and …