1/21. Polymorphonuclear elastase in patients with homozygous type I plasminogen deficiency and ligneous conjunctivitis.Laboratory studies were performed on six female patients (ranging in age from 1 to 31 years) with ligneous conjunctivitis, which we regard as a systemic condition consisting of ligneous conjunctivitis and other pseudomembranous lesions. plasminogen levels were severely reduced in all six patients; five patients were homozygous, and one patient was double heterozygous for type I plasminogen deficiency. Of family members tested, 11 of 12 parents and two of six siblings tested were diagnosed as heterozygous. No thrombotic episodes had occurred in any of the patients. Polymorphonuclear (PMN) elastase protein levels were markedly elevated in all, significantly more so in the homozygous patients (range 88 to 335 ng/mL; normal range, 20 /-10 ng/mL) than in the heterozygous patient (58 ng/mL). Of 11 parents examined, only 1 mother had normal PMN elastase (27 ng/mL, with plasminogen antigen 60% and plasminogen functional activity 86%), whereas values were moderately elevated (range 42 to 110 ng/mL) in the other 10 parents examined. After plasminogen substitution, PMN elastase levels consistently decreased but did not reach normal values. We interpret our findings as indicating that non-plasmin-induced fibrinolytic processes, possibly mediated via elastase, may be intensified in patients with plasminogen deficiency.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/21. Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 --> Glu/Arg513 --> His, Lys19 --> Glu/Arg216 --> His, and Lys19 --> Glu/Leu128 --> Pro, respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister, who both presented with a severe course of the disease, exhibited plasminogen antigen and functional activity levels below the detection limit (<0.4 mg/dL and <5%, respectively). These subjects were compound-heterozygotes for a deletion mutation (del Lys212) and a splice site mutation in intron Q (Ex17 1del-g) in the plasminogen gene. These findings show that certain compound-heterozygous mutations in the plasminogen gene may be associated with ligneous conjunctivitis. Our findings also suggest that the severity of clinical symptoms of ligneous conjunctivitis and its associated complications may depend on the amount of plasminogen functional residual activity.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
3/21. Radiculomyelitis following acute haemorrhagic conjunctivitis.The clinical manifestations and natural history of radiculomyelitis following a newly reported disease--acute haemorrhagic conjunctivitis (AHC)--have been studied in 33 patients in taiwan, and the following observations made: All the patients in this series were adults at ages ranging from 21 to 55 years; the salient initial neurological manifestations were radicular pains and acute flaccid paralysis which developed from five to thirty-seven days after the onset of AHC. In some patients, signs and symptoms indicating involvement of the meninges, cranial nerves and the white matter of the cord were observed; motor paralysis was the most striking feature during the whole clinical course; it consisted of flaccid asymmetrical weakness in one or more limbs, usually being more severe in the lower limbs than in the upper, and often more proximal than distal. Atrophy in the severely affected muscles usually became apparent in the second or third week of the weakness; the prognosis regarding the return of function in the affected muscles was dependent on the severity of the involvement. Permanent incapacitation due to paralysis and muscular atrophy in the affected proximal muscles of lower limbs was the main sequel in severe cases. The pattern and prognosis of flaccid motor paralysis were reminiscent of acute poliomyelitis in which the anterior horn cells of the spinal cord are mainly involved. Pleocytosis ranging from 11 to 270 per mm3 was noted in the majority of the patients when the cerebrospinal fluid was examined within the first three weeks from the onset of neurological symptoms; the total protein level was raised invariably from the second week onwards in all specimens, and remained so throughout the subsequent course as long as the seventh week or later. Tissue culture neutralization tests were performed on the sera from 9 patients; significant rises in the antibody titres (greater than or equal to 1:16) to AHC virus antigens were found in 8 cases, and in 2 of them a fourfold rise in the paired sera was noted. The differentiation of this syndrome from poliomyelitis and from guillain-barre syndrome, the relative freedom of children from neurological complications of AHC and the aetiological relationship of AHC virus to the syndrome have been discussed. It is concluded that this unusual neurological syndrome is caused by the neurovirulent properties of the AHC virus.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/21. Linear IgA bullous disease limited to the eye: a diagnostic dilemma: response to intravenous immunoglobulin therapy.PURPOSE: To report on a diagnostic dilemma and treatment challenge in a patient with chronic cicatrizing conjunctivitis without involvement of skin and other mucous membranes persisting for 6 years and not responding to topical and systemic steroids. DESIGN: Interventional case report. methods: We performed direct immunofluorescence of the conjunctiva with fluorescein-conjugated rabbit antihuman antibodies against immunoglobulin a, G, and M, complement 3 component, and fibrinogen. To investigate the presence of circulating antibodies in patient's serum, indirect immunofluorescence using normal human conjunctiva, normal human skin, and monkey esophagus as substrate was done. In addition, we did immunoblot analysis using normal human epidermis as substrate to determine the molecular weight of an antigen. The patient was treated with intravenous immunoglobulin (IVIg). The correlation between the titer of circulating antibodies and the activity of conjunctival inflammation at various intervals during the course of IVIg therapy was demonstrated by immunoblot assay with serial dilutions of the patient's serum. The highest dilution at which the binding was visible was considered the titer. RESULTS: Direct immunofluorescence of the conjunctiva and indirect immunofluorescence with both salt split skin and conjunctiva as substrate disclosed linear deposition of immunoglobulin a (IgA) at the epithelial basement membrane. Immunoblot analysis demonstrated the presence of IgA circulating antibodies in patient's serum directed against a 97kDa protein in human epidermis. A continuous decrease in the titer of these antibodies correlating to improvement of clinical symptoms was observed during IVIg therapy. CONCLUSIONS: Use of a nonconventional diagnostic tool (immunoblot analysis), in addition to conventional immunohistologic studies, might be helpful in establishing the diagnosis of patients with chronic cicatrizing conjunctivitis. On the basis of results of these laboratory tests and clinical presentation, we believe that this patient has linear IgA bullous disease limited to the eye. IVIg therapy decreased the titer of circulating antibodies and induced a remission in this patient.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/21. Ligneous conjunctivitis in a girl with severe type I plasminogen deficiency.BACKGROUND: Ligneous conjunctivitis is a rare form of chronic recurrent pseudomembranous disease and may be associated with systemic membranous pathological changes. Recently ligneous conjunctivitis has been linked to severe type I plasminogen deficiency. We report on a patient with plasminogen deficiency and severe bilateral ligneous conjunctivitis. A new treatment approach and its outcome in this patient are described. CASE REPORT: We present the case of a 9-month-old Turkish girl with massive swelling of the eyelids and hard white pseudomembranes on both lids. The conjunctival smear was positive for streptococcus pneumoniae. The clinical diagnosis was: ligneous conjunctivitis with superinfection. Histological investigation showed fibrin as major component of the pseudomembranes. The coagulation analyses revealed decreased plasminogen activity (<5%; normal 80-120%) and decreased plasminogen antigen (<0.4 mg/dl; normal 6-25 mg/dl). The failure of surgical therapy led to the attempt at treatment with intravenous lys-plasminogen. A significant improvement of the ocular symptoms occurred; stabilization with no recurrent pseudomembranes could be achieved for 6 months after treatment. DISCUSSION: The initial amelioration of symptoms in our patient after systemic replacement therapy confirms the etiological importance of plasminogen deficiency in the development of ligneous conjunctivitis. Curative treatment of ligneous conjunctivitis is still not available. However, intravenous application of plasminogen offers new possibilities in therapy, although long-term treatment seems necessary.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
6/21. Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis.Severe type I plasminogen deficiency has been recently linked to ligneous conjunctivitis, a rare and uncommon form of chronic conjunctivitis. In this study, eight unrelated ligneous conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19-->Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134-->Lys) and a nonsense mutation (Cys133--> Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565ins-G). In two unrelated subjects with ligneous conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19-->Glu mutation is the most prevalent mutation in the plasminogen gene of patients with ligneous conjunctivitis.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/21. Effective treatment of ligneous conjunctivitis with topical plasminogen.PURPOSE: The etiology of ligneous conjunctivitis is now known to be due to an underlying type 1 plasminogen deficiency. We hereby report the clinical features of three cases and their response to topically administered plasminogen. DESIGN: Observational case series. methods: Two Caucasian females aged 5 years and an 18-month male of north African descent presented with a membranous conjunctivitis, which recurred after surgical excision. Case 1 presented before the association with plasminogen deficiency was known with a bilateral chronic membranous mucopurulent conjunctivitis from the age of 14 months associated with bronchiolitis and gingival hyperplasia. A diagnosis of ligneous conjunctivitis was entertained and a number of drops were instituted. At the age of 4 years plasminogen levels were ordered. Case 2 presented at the age of 4 years with a unilateral chronic membranous conjunctivitis. plasminogen levels were requested as soon as a diagnosis of ligneous conjunctivitis was suspected. Case 3 was born with congenital hydrocephalus. conjunctivitis was treated with antibiotics from the age of 1 month. He presented to the eye clinic at the age of 5 months when a clinical diagnosis of ligneous conjunctivitis was entertained and treated with a number of medications. plasminogen levels were available at 9 months of age. RESULTS: The two female patients returned plasminogen levels of 0.25 U/ml and 0.3 U/ml, well below the normal level of 0.7-1.0 U/ml. Functional plasminogen levels in the male infant were not recordable with plasminogen antigen levels of 0.125 U/ml (normal range, 0.52-1.82). All cases have responded well to excision of the membranes and institution of topical plasminogen drops. There has been no recurrence with more than 12 months' follow-up. CONCLUSIONS: With the knowledge of the etiology of ligneous conjunctivitis, efforts are underway to identify the best method of delivery of plasminogen. Topical plasminogen concentrate from fresh frozen plasma holds promise as the definitive treatment for this chronic membranous conjunctivitis- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
8/21. Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency.Ligneous conjunctivitis is a rare and unusual form of chronic pseudomembranous conjunctivitis which usually starts in early infancy. plasminogen deficiency has recently been associated with ligneous conjunctivitis. The disease may be associated with pseudomembranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract and also with congenital hydrocephalus. In this report, a 1-month-old Turkish boy who had pseudomembranous conjunctivitis, occlusive hydrocephalus, and hydrocele is presented. After surgery for ventriculo-peritoneal shunt establishment, he developed inspiratory stridor, respiratory distress, and pulmonary atelectasis. Tracheal pseudomembranes were also demonstrated by bronchoscopy. plasminogen antigen level and plasminogen activity were very low. Genomic dna from the patient was screened for mutations in the plasminogen gene and a homozygous L650fsX652 mutation (deletion of 2081C) was detected. Both of his parents were heterozygous for this mutation. He died due to respiratory failure during follow-up. CONCLUSION: Ligneous conjunctivitis related to type I plasminogen deficiency is relatively common in the Turkish population, however, mutations are heterogeneous and a common founder is unlikely.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
9/21. Juvenile Reiter's syndrome: a case report.Reiter's syndrome (RS) is uncommon in children, and the classic triad manifestations of RS usually do not occur simultaneously in children. It is often clinically confused with other childhood illnesses. We report a case of RS in a 7-year-old boy with a family history of ankylosing spondylitis. He had developed intermittent arthralgia of the right knee for about 6 months and occasional bilateral eye pain for several months prior to admission. In the 5 days before admission, he developed multiple oral ulcers, weight loss from 25 to 22 kg and fever. physical examination showed injected bilateral conjunctivae and the right knee joint with swelling, local warmth, and tenderness over the patellar ligament. Laboratory results revealed positive histocompatibility antigen-B27 (HLA-B27), negative rheumatoid factor (RF) and antinuclear antibody (ANA) and normal urinalysis. RS was diagnosed based on the findings of both arthritis and conjunctivitis. The arthritis was treated with acetaminophen and naproxen. In conclusion, juvenile RS should be considered in children with arthritis and conjunctivitis, positive HLA-B27, negative RF and ANA and a family history of related diseases.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
10/21. Swiss chard hypersensitivity: clinical and immunologic study.Allergy to vegetables and fruits seems to be more prevalent in atopics, especially in birch pollen-sensitized individuals. We report a case of a grass pollen-sensitized woman, in whom the inhalation of vapor from boiling Swiss chard precipitated rhinoconjunctivitis and asthma. Type I hypersensitivity to Swiss chard was demonstrated by means of immediate skin test reactivity, specific IgE determination by RAST, basophil degranulation, histamine release test, and an immediate bronchial provocation test response to Swiss chard extract. The controls did not react to any of these tests. RAST inhibition assays suggest the presence of some cross-reactivity among Swiss chard and grass pollen antigens, as well as cross-reactivity between vegetables and weed pollens of the chenopod family.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
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