[Ocular toxocariasis. A case report]. / Toxocariasis ocular. A propósito de un caso.

CASE REPORT: We present the case of a seven-year-old male with ocular toxocariasis. The fundus of the eye showed a vitritis, as a result of which the retina could not be seen. Following treatment with systemic corticosteroids the condition evolved favorably. However, due to a papillary and peripheral granuloma that raised the macula, a vitrectomy was performed which stabilized the process. DISCUSSION: Ocular toxocariasis is not common in developed countries. The diagnosis is based on funduscopic aspects, serology and IgG positivity of the vitreous. In relation to treatment, as the use of anthelminthics therapy is controversial, the use of corticosteroids and vitrectomy is recommended.

Study of a functional polymorphism in the p53 gene in systemic lupus erythematosus: lack of replication in a Spanish population.

The aim of this study was to assess the possible association between the p53 suppressor gene codon 72 polymorphism and systemic lupus erythematosus (SLE). Our study population consisted of 513 SLE patients and 567 healthy controls. All the individuals were of Spanish Caucasian origin. Genotyping of the p53 codon 72 polymorphism was performed by allele-specific PCR. No statistically significant differences were observed between SLE patients and healthy controls when p53 codon 72 genotype and allele frequencies were compared. In addition, no evidence for association with clinical subfeatures of SLE was found. In conclusion, the p53 codon 72 polymorphism associated with SLE in a Korean population does not appear to play a major role in the susceptibility or severity of SLE in the Spanish population.

Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus.

BACKGROUND: Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases. OBJECTIVE: To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that common genetic bases are shared by autoimmune disorders. METHODS: 597 SLE patients and 987 healthy controls of white Spanish origin were studied. Two additional cohorts of 228 SLE patients from Sweden and 122 SLE patients from Colombia were included. A case-control association study was carried out with six single nucleotide polymorphisms (SNP) spanning the SLC22A4 gene, one SNP in RUNX1 gene, and one additional SNP in SUM04 gene. RESULTS: No significant differences were observed between SLE patients and healthy controls when comparing the distribution of the genotypes or alleles of any of the SLC22A4, RUNX1, or SUMO4 polymorphisms tested. Significant differences were found in the distribution of the SUMO4 genotypes and alleles among SLE patients with and without nephritis, but after multiple testing correction, the significance of the association was lost. The association of SUMO4 with nephritis could not be verified in two independent SLE cohorts from Sweden and Colombia. CONCLUSIONS: These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.

Autoantibodies to DEK oncoprotein in systemic lupus erythematosus (SLE).

Autoantibodies against the transcriptional DEK protein have been considered characteristic of the pauciarticular onset subtype of juvenile rheumatoid arthritis (JRA) associated with iridocyclitis in young girls. In this study we investigated the presence of anti-DEK autoantibodies in the sera of 288 patients with SLE using a recombinant DEK protein as autoantigenic target. Thirty sera (10.4%) were positive against DEK protein by immunoblotting. Patients with anti-DEK autoantibodies show a lower frequency of cutaneous manifestation, exhibit more frequently certain markers of a chronic inflammatory status like anaemia and positivity for C-reactive protein, as well as a higher frequency of anti-double-stranded DNA autoantibodies. In contrast to JRA patients positive for anti-DEK autoantibodies, no association with erosive arthritis nor iridocyclitis were found in SLE. In conclusion, our results show that 10.4% of SLE patients from our area show antibodies against DEK protein, although this feature did not clearly establish a clinical subset of the disease.

Antimyeloperoxidase antibodies in individuals with occupational exposure to silica.

OBJECTIVE: To determine the prevalence of autoantibodies to myeloperoxidase (MPO) in a series of patients exposed to silica. METHODS: The study included 52 patients with occupational exposure to silica (mean exposure time seven years) and a control group comprising seven patients with progressive systemic sclerosis (PSS), six patients with systemic lupus erythematosus (SLE), and 15 healthy individuals. Antibodies to MPO were detected using commercial enzyme linked immunosorbent assay (ELISA) plates coated with MPO. Indirect immunoflurescence studies for antineutrophil cytoplasmic antibodies were performed using ethanol and formol fixed neutrophils. Clinical and biological data of individuals exposed to silica were recorded (published previously). RESULTS: Antibodies to MPO were detected in 14 individuals exposed to silica (27%). There was a statistically significant difference in anti-MPO ELISA units between the healthy subjects and patients (SLE, PSS, silica exposed individuals) (p < 0.01), but no difference between the different disease groups. CONCLUSIONS: Individuals chronically exposed to silica, whether or not they have a connective tissue disease, have levels of antibodies to MPO (as detected by ELISA) that are greater than those found in the normal population, but similar to those in patients with systemic diseases not induced by silica (SLE/PSS).

Prevalence of infection by human T-cell leukemia virus types I and II in southern Spain.

To assess the spread of human T-cell leukemia virus (HTLV) type I and II in different population groups at potential risk of infection in Spain, a total of 756 subjects were studied: 453 belonging to groups at risk for retrovirus infection, 255 with diseases potentially linked to HTLV-I/II infection and 48 immigrants from endemic areas. An HTLV-I viral-lysate enzyme immunoassay (EIA) with a recombinant transmembrane envelope protein incorporated was used to screen serum samples. Reactive specimens were confirmed by Western blot strips spiked with recombinant proteins that differentiated HTLV-I from HTLV-II. Infection was then verified by the polymerase chain reaction (PCR). Serum samples from 19 of the 756 subjects analyzed (2.5%) were reactive for HTLV by EIA. One of these was from an intravenous drug user (IVDU) in whom HTLV-II infection was confirmed by Western blot and PCR; a specimen from another IVDU showed Western blot reactivity for both retroviruses, but PCR results were negative. Lastly, Western blot confirmed the presence of HTLV in one of the immigrant subjects. Western blot did not verify HTLV infection in the remaining 16 cases, indicating a high rate of nonspecific anti-HTLV reactivity when a second-generation EIA screening test was applied. These results suggest that HTLV is present in Spain among populations at high risk for HTLV, although at a very low rate and restricted to intravenous drug users and individuals immigrating from endemic areas.

Multiple clinical and biological autoimmune manifestations in 50 workers after occupational exposure to silica.

OBJECTIVES: A self referred group of four workers from a factory producing scouring powder with a high silica content showed a surprisingly high number of features compatible with a connective tissue disease. Further subjects working at the same factory were subsequently studied to evaluate the relation between this exposure and the development of autoimmune processes. METHODS: A total of 50 subjects (44 women, six men; mean (SD) age 43.7 (5.5) years; mean duration of employment 6.1 years) underwent a prospective study including clinical history and physical examination, an immunobiological study, HLA typing, radiological and functional oesophageal and respiratory examination, ophthalmological examination, and isotopic testing of salivary glands. RESULTS: Symptoms of a systemic illness were present in 32 (64%) subjects: six with Sjögren's syndrome; five with the criteria for systemic sclerosis; three with systemic lupus erythematosus (SLE); five with an 'overlap syndrome'; and 13 with undifferentiated findings not meeting the criteria for a defined disease. Antinuclear antibodies were present in 36 (72%) subjects; four had antibodies to native DNA, including two subjects with SLE, one with systemic sclerosis associated with secondary Sjögren's syndrome, and one with overlap syndrome. Anticentromere antibodies were not detected. The frequency of HLA-DR3 was increased in the clinically affected subjects, but did not reach statistical significance. CONCLUSIONS: This descriptive study emphasises the high probability of workers occupationally exposed to silica developing a multiple spectrum of clinical and serological autoimmune manifestations.

[Primary pulmonary leiomyoma. Presentation of 3 cases]. / Leiomioma pulmonar primitivo. Presentación de tres casos.

Pulmonary leiomyoma is a benign tumor of mesodermal origin, very rare of which only three cases have been described on the Spanish scientific literature. We present our experience with three new cases and discuss the clinical and therapeutic characteristics of these neoplasms according to their topographical localization. We insist on the need of a gynecological revision when females are affected, because its possible association with uterine tumors.

[Lymphomatoid granulomatosis: clinicopathologic analysis of 7 cases]. / Granulomatosis linfomatoidea: análisis clinicopatológico de 7 casos.

The aim of the present was to study the possible clinical histological correlations in the cases of lymphomatoid granulomatosis (LG) diagnosed in the last 10 years. Clinic evolutive data were collected in 7 patients diagnosed LG. The histological samples related to the same were revised and an immunohistochemical study was carried out with the oxidase/antiperoxidase technique. Seven patients (5 females and 2 men) with a mean age of 47 years (limit 23-47) were studied. The form of presentation was alteration of the general state in 5 cases accompanied by respiratory symptoms in 4. In 2 cases lung involvement was not found. In 7 biopsies performed at the initiation of the disease, 3 presented characteristics of lymphoma. Three patients are presently alive with a mean follow up time of 31 months and 4 have died (mean survival 17 months). Immunohistochemistry demonstrated T lymphocyte predominance in most of the cases (5 out of 6). The first case of LG in a patient simultaneously infected with the HIV and HTLV-1 is presented. Lymphomatoid granulomatosis possesses a symptomatology which is very inspecific and has histological features which may be superposed to other lymphoproliferative disorders, specially those of the T strain. Given the known relation between HTLV-1 and T lymphomas the role of HTLV-1 in the genesis of LG should be studied in these patients specially in those with the HIV.