Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-eight newborn Beagle puppies from eight litters of a specific pathogen-free colony maintained in isolation were inoculated with canine herpesvirus. Pups were killed between one and 30 days after inoculation. Histopathologic studies were carried out on the eyes and other tissues in conjunction with fluorescent antibody and viral isolation studies. Evidence of ocular inflammation manifested by panuveitis with the presence of intranuclear inclusion bodies was usually seen by the fourth day after infection. Eyes with severe inflammation showed peripheral anterior synechiae, cataract, and keratitis. The presence of the virus was confirmed by viral isolation from ocular tissues and fluorescent antibody studies. Developmental anomalies included retinal dysplasia with fold and tube formation of the neural retina, retardation of retinal maturation, and areas of necrosis and reorganization were seen. The retinal pigment epithelium showed initially patchy depigmentation and vacuolization and, subsequently, folding hypertrophy and duplication as well as areas of widespread atrophy and patchy loss. In some animals ectopic retina was found within cystic spaces of the optic nerve. These experiments confirm the ability of canine herpes infection in neonatal pups to produce severe ocular inflammation with subsequent retinal dysplasia and associated ocular anomalies.
 ...
PMID:Canine herpes-induced retinal dysplasia and associated ocular anomalies. 17 83

In 34 patients with hypertelorism aged on the average 12.6 years, 24 underwent intracranial surgery (combined intra- and extracranial approach), 2 (moderate) U-osteotomy (subcranial approach), and 8 (mild) canthoplasties. Improved results were obtained in the patients with various types of hypertelorism. The complications were reviewed. Of the 24 patients undergone intracranial surgery, one died, 4 had cerebrospinal fluid leakage, and 4 had keratitis. No seizure, cerebral edema, meningitis, blindness, and ptosis were observed in these patients. Average blood loss was 72% of blood volume. Average duration of surgery was 7.5 hours. The causes of hypertelorism such as craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma were also discussed. Satisfactory appearance was seen in most of the patients.
 ...
PMID:[Surgical correction of 34 patients with hypertelorism]. 147 4

Measles encephalitis was produced in 41 hamsters by intracerebral injection of the hamster-neuroadapted Mantooth HBS viral strain. Group I (n = 10) included 2-day old (newborn) hamsters, each inoculated with 0.02 ml of 1:20 diluted virus. This group was sacrificed 4 days postinoculation (DPI). Group II (n = 31) included 25-day old hamsters, each inoculated with 0.03 ml of 1:10 diluted virus. This group was sacrificed 6, 13, 17, and 31 DPI. Clinical and histological evidence of measles encephalitis was present in all infected hamsters. Retinal lesions varied with the age of the animals at the time of inoculation. Retinal folds were observed in the 2-day old group and represented one form of retinal dysplasia. In the 25-day old group, however, earliest retinal involvement was in the form of hemorrhages, followed by focal retinitis in animals sacrificed 6-17 DPI. Measles keratitis was noted only in animals sacrificed 6 DPI. In 25-day old hamsters, measles keratitis and retinal hemorrhages represented the acute manifestations, whereas retinitis occurred later. However, ocular involvement did not correlate with the degree of severity of measles encephalitis.
 ...
PMID:Eye pathology associated with measles encephalitis in hamsters. 187 85

We report on a male patient with exophthalmos of unclear etiology, basilar impression, syringohydromyelia and type II Arnold-Chiari malformation. Two diseases involving the orbital region were to be considered in differential diagnostic terms: endocrine orbitopathy and osseous orbit dysplasia. The typical physical appearance associated with basilar impression as well as suppurative keratitis in Lagophthalmos was striking. Tetraspasticity with pareses, bulbar symptoms, proximally pronounced muscular atrophy as well as a left hemihypesthesia was shown neurologically. Although the orbit CT was normal, sonography revealed thickened ocular muscles. There was euthyroidism in diffuse goiter with negative thyroid autoantibody findings. Because of lack of definitive detection of muscular swelling, tumor, or vascular anomaly in the various images, orbital dysplasia in the context of a malformation syndrome affecting several organs is suggested as the cause of the exophthalmos.
 ...
PMID:Exophthalmos and basilar impression. A contribution to differential diagnosis of endocrine orbitopathy. 325 Nov 72

Prolonged topical trifluridine treatment of herpes simplex keratitis in three elderly patients produced slightly raised dysplastic corneal epithelial lesions. The involved epithelium had a ground-glass appearance and exhibited opaque cells, edema, and spindle-shaped surface cells. Histopathology demonstrated severe cellular atypism, loss of cell polarity, dyskeratosis, parakeratosis, and a few mitotic figures. The pathological change was apparently intraepithelial. After scraping, the edema and opaque cells in the regenerated epithelium gradually disappeared in 3-4 months on cessation of trifluridine therapy. In one patient recurrence of dendritic keratitis, 5 weeks after scraping, was treated by topical bromovinyldeoxyuridine eye drops. Since severe epithelial dysplasia may represent a precancerous condition, prolonged use of trifluridine should be avoided.
 ...
PMID:Corneal epithelial dysplasia after trifluridine use. 640 11

Corneal epithelial dysplasia and carcinoma in situ have not been emphasized as distinct clinical conditions in the literature. Seven cases are presented with their clinicopathological correlation. Six of the patients presented primarily with corneal signs and symptoms consisting of notable visual blurring or foreign body sensations, or both. Biomicroscopic examination revealed a geographic, diffuse, greyish-white haze involving the corneal epithelium, often with; subtle thickening and irregularity of the involved areas and overlying superficial punctate keratitis. Histologic examination showed all degree of corneal epithelial dysplasia up to carcinoma in situ. The diagnosis, course and management of these conditions is discussed.
 ...
PMID:Corneal epithelial dysplasia and carcinoma in situ. 734 59

Forty patients with hypertelorism seen in the past 16 years were reviewed retrospectively. Combined intra- and extracranial surgical approach was used for 37 severe and moderate cases and subcranial approach (U-osteotomy) for 3 moderate cases. Gratifying results were obtained in patients with different types of hypertelorism by a multidisciplinary team. Complications were also reviewed. Of the 37 cases of intra- and extracranial corrections, 1 died, 4 had cerebrospinal fluid leakage and 4 had keratitis. No seizure, cerebral edema, meningitis, blindness, and ptosis occurred in this series. The average age was 13 years and two months. Operating time averaged 6 hours and 50 minutes. Hypertelorism was mostly attributable to craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma. Satisfactory esthetic appearance was achieved in most of the cases.
 ...
PMID:Surgical correction of hypertelorism. Report of 40 cases. 840 75

Odonto-onycho-dermal dysplasia is an ectodermal dysplasia (ED) described once previously in two families who exhibited atrophic malar patches, sparse hair, conical teeth, dystrophic nails and hyperkeratosis of the palms and soles. We describe a boy who developed a blistering malar rash soon after birth. When examined at 11 months, and then at 27 months of age, he had persistent atrophic malar plaques that reddened with heat. He also showed nail dystrophy, sparse hair, lingual concavity of the incisors, a bifid maxillary incisor, a five-cusped molar, and hyperhidrosis of the palms and soles. In addition he had chronic tearing, photophobia, blepharitis, and a mild keratitis. After reviewing EDs with atrophic or scar-like skin changes, we believe this child most resembles the patients with odonto-onycho-dermal dysplasia, although his eye findings are unique.
 ...
PMID:Odonto-onycho-dermal dysplasia. 855 39

Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in the paired domain: the R26G mutation, previously reported in a case of Peters' anomaly, and an unreported I87R mutation, which we identified in a patient with aniridia. While both the R26 and the I87 positions are conserved in the paired boxes of all known PAX genes, X-ray crystallography has shown that only R26 makes contact with DNA. We showed that the R26G mutant failed to bind a subset of paired domain binding sites but, surprisingly, bound other sites and successfully transactivated promoters containing those sites. In contrast, the I87R mutant had lost the ability to bind DNA at all tested sites and failed to transactivate promoters. Our data support the haploid-insufficiency hypothesis of aniridia, and the hypothesis that R26G is a hypomorphic allele.
 ...
PMID:Functional analysis of paired box missense mutations in the PAX6 gene. 914 40

PAX6 is a transcription factor with two DNA-binding domains (paired box and homeobox) and a proline-serine-threonine (PST)-rich transactivation domain. PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans. Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia. It is believed that the mutated allele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency. However, several truncation mutations have been found to occur in the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DNA-binding domains but have lost most of the transactivation domain. It is not clear whether such mutants really behave as loss-of-function mutants as predicted by haploinsufficiency. Contrary to this theory, our data showed that these mutants are dominant-negative in transient transfection assays when they are coexpressed with wild-type PAX6. We found that the dominant-negative effects result from the enhanced DNA binding ability of these mutants. Kinetic studies of binding and dissociation revealed that various truncation mutants have 3-5-fold higher affinity to various DNA-binding sites when compared with the wild-type PAX6. These results provide a new insight into the role of mutant PAX6 in causing aniridia.
 ...
PMID:Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. 970 83


1 2 Next >>