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

Acute corneal ulceration in malnourished children is the commonest cause of childhood blindness in Northern Nigeria and usually develops after measles. Other severe diseases in malnourished children rarely precipitate corneal ulceration. A survey in a school for blind children showed that 69% of the children were blind from corneal disease, and a survey of children with corneal scars showed that at least 42% were caused by ulceration after measles. The clinical appearance of the active ulcers was very varied. The serum retinol-binding protein and prealbumin levels in children with corneal ulcers following measles were below normal, but a group of malnourished children without eye complaints following measles were found to have even lower levels. Thus a specific deficiency of vitamin A does not appear to be the primary cause of these ulcers, though it may be a contributory one. A specific measles keratitis and secondary herpes simplex infectious may be local factors contributing to this ulceration, and there is nearly always a background of protein calorie malnutrition. Racial factors may also be of some significance.
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PMID:Corneal ulceration following measles in Nigerian children. 50 86

An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.
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PMID:Ichthyosis, deafness, and Hirschsprung's disease. 270 59

The present paper reviews the health problems of rural agricultural workers in Malaysia. As is common with most developing countries, the agricultural sector forms the pillar of the national economy in Malaysia, the major products being rubber, palm oil, rice and timber. Most of the agricultural workers, who form the largest occupational group in the country, live in the rural areas under poor socioeconomic and environmental conditions. Their general health problems include large families, substandard housing, overcrowding, lack of piped water supply and sanitary excreta disposal, malnutrition and prevalent diseases such as cholera, typhoid, dysentery and parasitic infections. The specific occupational health problems include infectious diseases, agricultural accidents, pesticide poisonings, physical hazards, keratitis nummularis and snake-bites. The organization of agricultural health services in developing countries is also discussed.
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PMID:Health problems of agricultural workers in Malaysia. 661 77

Eye diseases in 1028 children below 15 years of age, seen at the Eye clinic of the University College Hospital, Ibadan, Nigeria were studied. Refractive error, vernal conjunctivitis, measles keratitis associated with malnutrition and those referrable to injuries were leading causes of eye problems amongst children. Diseases of ocular adnexa (excluding orbital cellulitis) squints, glaucoma, uveitis and trachoma were rare.
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PMID:Childhood eye diseases in Ibadan. 760 46

Deficiency of the hepatic cytosolic enzyme tyrosine aminotransferase (TAT) causes marked hypertyrosinaemia leading to painful palmoplantar hyperkeratoses, pseudodendritic keratitis and variable mental retardation (oculocutaneous tyrosinaemia type II or Richner-Hanhart syndrome). Parents may therefore seek prenatal diagnosis, but this is not possible by biochemical assays as tyrosine does not accumulate in amniotic fluid and TAT is not expressed in chorionic villi or amniocytes. Molecular analysis is therefore the only possible approach for prenatal diagnosis and carrier detection. To this end, we sought TAT gene mutations in 9 tyrosinaemia II patients from three consanguineous Palestinian kindreds. In two kindreds (7 patients), the only potential abnormality identified after sequencing all 12 exons and exon-intron boundaries was homozygosity for a silent, single-nucleotide transversion c.1224G > T (p.T408T) at the last base of exon 11. This was predicted to disrupt the 5' donor splice site of exon 11 and result in missplicing. However, as TAT is expressed exclusively in liver, patient mRNA could not be obtained for splicing analysis. A minigene approach was therefore used to assess the effect of c.1224G > T on exon 11 splicing. Transfection experiments with wild-type and c.1224G > T mutant minigene constructs demonstrated that c.1224G > T results in complete exon 11 skipping, illustrating the utility of this approach for confirming a putative splicing defect when cDNA is unavailable. Homozygosity for a c.1249C > T (R417X) exon 12 nonsense mutation (previously reported in a French patient) was identified in both patients from the third kindred, enabling successful prenatal diagnosis of an unaffected fetus using chorionic villous tissue.
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PMID:TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 1691 29

Bilateral keratitis usually occurs in predisposed individuals such as contact lens wearers, those suffering from malnutrition and immunodeficiency or patients undergoing bilateral refractive corneal surgery. We report a 30-year-old man without any obvious predisposing factors who presented with complaints of pain and decreased vision in both eyes. Examination revealed corneal ulcers in both eyes, which on microbiological culture grew Pseudomonas aeruginosa. The patient underwent a therapeutic keratoplasty in the right eye while the left eye was managed medically. Bilateral Pseudomonas keratitis can develop in the absence of any obvious predisposing factors.
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PMID:Bilateral Pseudomonas keratitis without predisposing factors. 1718 91

Epidemic keratoconjunctivitis (EKC), caused by human adenovirus (HAdV), is one of the most common ocular infections and results in corneal inflammation and subepithelial infiltrates. Adenoviral keratitis causes significant morbidity to the patients, and is characterized by infiltration of leukocytes in the corneal stroma, and expression of chemokines. The exact role of these chemokines in adenoviral infection has not been studied due to lack of animal models. Here, we have characterized the role of chemokine CXCL1/KC and receptor CXCR2 in adenoviral keratitis using a novel mouse model. Analysis of chemokine expression, leukocyte infiltration, and development of keratitis was performed by ELISA, flow cytometry, and histopathology, respectively. Deficiency of CXCL1 and CXCR2 resulted in delayed infiltration of neutrophils, but not inflammatory monocytes in HAdV-37 corneal infection. CXCL1(-/-) mice showed decreased expression of CXCL2/MIP-2, but not CCL2/MCP-1. CXCR2(-/-) mice showed increased expression of CXCL1 and CXCL2, but not CCL2. Both CXCL1(-/-) and CXCR2(-/-) mice demonstrated keratitis similar to wild-type mice. In conclusion, both CXCL1 and CXCR2 play an important role in chemokine expression and neutrophil infiltration following adenoviral corneal infection, but have a redundant role in the development of keratitis.
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PMID:Chemokine CXCL1/KC and its receptor CXCR2 are responsible for neutrophil chemotaxis in adenoviral keratitis. 1964 7

Malignant syphilis is now considered a rare disease, more commonly affecting individuals with poor health, malnutrition or HIV infection. We present a 34-year-old man with HIV infection who developed multiple atypical cutaneous ulcerations, leonine facies, a scleral nodule and keratitis with visual loss. The diagnosis of malignant syphilis was delayed due to the insidious presentation, but was confirmed via immunohistochemical (IHC) staining with anti-Treponema antibodies of a skin biopsy. Significant clinical improvement was observed following a 15-day course of penicillin and tigecycline therapy. In advanced HIV disease, cutaneous manifestations are often difficult to identify and present a challenge for the clinician. Clinical manifestations of secondary syphilis vary greatly, earning the epigram of 'the great imitator'. It is important to recognize atypical presentations of syphilis, especially among HIV-infected individuals. Unlike historical cases of malignant syphilis, Treponema pallidum was found in the tissue section using IHC staining methods. We emphasize the importance of lues maligna in the differential diagnosis of HIV-infected patients with diffuse ulceronodular lesions as well as the usefulness of histological investigations and IHC studies.
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PMID:Malignant syphilis with ocular involvement in an HIV-infected patient. 2157 84

Tufting enteropathy (TE), previously known as intestinal epithelial dysplasia, is a rare congenital enteropathy characterized by refractory diarrhea in the neonatal period. It presents clinical and histological heterogeneity and may be associated with birth defects and punctuate keratitis. The causative gene(s) have not yet been identfied making prenatal diagnosis unavailable. Although there are milder phenotypes most require parenteral nutrition for prolonged periods with the risk of complications. TE becomes an indication for intestinal transplantation. We report the case of a 4-month-old male, born full term with a normal weight. The parents consulted because of severe malnutrition and chronic watery diarrhea. Duodenal and rectal biopsy was negative. Because of poor tolerance gastroclysis was changed to parenteral nutrition. The infant had several catheter-related infections and died at 13 months from catheter-associated complications. Histopathological autopsy was performed. The material was fixed in paraffin and studied with routine techniques. PAS and immunohistochemistry for CD10 were performed. We observed villous atrophy with intestinal epithelial dysplasia and disorganization on the surface of epithelial cells resembling tufts in jejunal and ileal tissue. The objective of this study was to present a rare case of neonatal enteropathy, especially TE, describe the methodology used to study the biopsy, and discuss the differential diagnoses. TE is a rare neonatal enteropathy that is difficult to diagnose and manage. Children in whom TE is suspected should be referred to specialized pediatric centers, with the option of intestinal transplantation.
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PMID:[Tufting enteropathy: a case report, histopathological methodology, and differential diagnoses]. 2607 17

Deficiency of the cysteine protease inhibitor cystatin M/E (Cst6) in mice leads to disturbed epidermal cornification, impaired barrier function, and neonatal lethality. We report the rescue of the lethal skin phenotype of ichq (Cst6-deficient; Cst6-/-) mice by transgenic, epidermis-specific, reexpression of Cst6 under control of the human involucrin (INV) promoter. Rescued Tg(INV-Cst6)Cst6ichq/ichq mice survive the neonatal phase, but display severe eye pathology and alopecia after 4 mo. We observed keratitis and squamous metaplasia of the corneal epithelium, comparable to Cst6-/-Ctsl+/- mice, as we have reported in other studies. We found the INV promoter to be active in the hair follicle infundibulum; however, we did not observe Cst6 protein expression in the lower regions of the hair follicle in Tg(INV-Cst6)Cst6ichq/ichq mice. This result suggests that unrestricted activity of proteases is involved in disturbance of hair follicle biology, eventually leading to baldness. Using quenched activity-based probes, we identified mouse cathepsin B (CtsB), which is expressed in the lower regions of the hair follicle, as an additional target of mouse Cst6. These data suggest that Cst6 is necessary to control CtsB activity in hair follicle morphogenesis and highlight Cst6-controlled proteolytic pathways as targets for preventing hair loss.-Oortveld, M. A. W., van Vlijmen-Willems, I. M. J. J., Kersten, F. F. J., Cheng, T., Verdoes, M., van Erp, P. E. J., Verbeek, S., Reinheckel, T., Hendriks, W. J. A. J., Schalkwijk, J., Zeeuwen, P. L. J. M. Cathepsin B as a potential cystatin M/E target in the mouse hair follicle.
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PMID:Cathepsin B as a potential cystatin M/E target in the mouse hair follicle. 2859 34


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