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L J Catoggio

Publications and source records attributed to L J Catoggio.

At least 19 recordsLinked to original sources

No evidence of association between genetic variants of the PDCD1 ligands and SLE.

PDCD1, an immunoreceptor involved in peripheral tolerance has previously been shown to be genetically associated with systemic lupus erythematosus (SLE). PDCD1 has two ligands whose genes are located in close proximity on chromosome 9p24. Our attention was drawn to these ligands after finding suggestive linkage to a marker (gata62f03, Z=2.27) located close to their genes in a genome scan of Icelandic families multiplex for SLE. Here, we analyse Swedish trios (N=149) for 23 single nucleotide polymorphisms (SNPs) within the genes of the PDCD1 ligands. Initially, indication of association to eight SNPs was observed, and these SNPs were therefore also analysed in Mexican trios (N=90), as well as independent sets of patients and controls from Sweden (152 patients, 448 controls) and Argentina (288 patients, 288 controls). We do not find support for genetic association to SLE. This is the first genetic study of SLE and the PDCD1 ligands and the lack of association in several cohorts implies that these genes are not major risk factors for SLE.

Antigens, CD↗

Male systemic lupus erythematosus in a Latin-American inception cohort of 1214 patients.

The objective of the study was to evaluate the influence of the male gender in the clinical presentation and outcome of systemic lupus erythematosus in a prospective inception cohort of Latin-American patients. Of the 1214 SLE patients included in the GLADEL cohort, 123 were male. Demographic characteristics as well as clinical manifestations, laboratory profile, activity and damage scores were evaluated at onset and during the course of the disease and compared with female patients. The median age at onset of the male patients was 27 and that at diagnosis 29.2 years. Delay to diagnosis was shorter in males (134 versus 185 days, P = 0.01). At onset, men more frequently showed fever (42.3 versus 27.0%, P = 0.001) and weight loss (23.6 versus 11.8%, P = 0.001). During disease course the incident of symptoms was: fever, 67.8 versus 55.6%, P = 0.012; weight loss, 47.2 versus 24.3%, P = 0.001; arterial hypertension, 37.4 versus 25.8%, P = 0.007; renal disease (persistent proteinuria and/or cellular casts), 58.5 versus 44.6%, P = 0.004); and hemolytic anemia, 19.5 versus 10.9%, P = 0.008. The laboratory results showed that: men more frequently had IgG anticardiolipin antibodies (68.2 versus 49%, P = 0.02) and low C3 (61.3 versus 48.1%, P = 0.03); 5/123 men died (4%) compared with 29/1091 women (2.7%). In conclusion, 10% of GLADEL's cohort patients were male. They showed a distinctive profile with shorter delay to diagnosis, higher incidence of fever, weight loss, arterial hypertension, renal disease, hemolytic anemia, IgG anticardiolipin antibodies and low C3. Although not statistically significant, mortality was higher in men.

Adolescent↗

Inflammatory muscle disease: therapeutic aspects.

The present treatment of the inflammatory myopathies remains unsatisfactory in several areas, perhaps due in part to our incomplete knowledge of their aetiology. These conditions have been grouped together for practical purposes and because of a similar approach to treatment. However, recent data regarding pathological findings, serological patterns and different outcomes, suggest that some of these myopathies may be distinct, and perhaps approaches to treatment should be tailored according to these findings. This chapter will attempt to update our current management, offer an analysis of recent data regarding newer treatment modalities and highlight areas lacking solid data that need to be further addressed. Although corticosteroids are still considered to be the mainstay of treatment, the earlier use of immunosuppressive therapy will be discussed, as will the use of autoantibody profiles for tailoring treatment. Newer modalities for the monitoring of therapeutic response and their current place in clinical practice will be analysed. The management of refractory cases will be addressed as will the current management of calcinosis, a problem more frequently encountered in children.

Female↗

Sjögren's in adult Still's disease?

The objective of the study was to search for clinical, ophthalmological and serological manifestations of Sjögren's syndrome in patients with adult onset Still's Disease (AOSD). Eight consecutive patients with AOSD were evaluated. In all cases a standardized questionnaire to disclose sicca symptoms as well as extraglandular manifestations commonly associated with Sjögren's syndrome(SS) was conducted. Ophthalmological and serological evaluation was undertaken in all patients. Oral involvement was investigated by minor salivary gland biopsy in 7 patients. One case presented symptomatic keratoconjunctivitis sicca and grade III Chisholm labial biopsy. A further 2 patients had grade IV (4 foci per 4 mm2) salivary gland biopsy, in the absence of xerostomia or xerophthalmia. The search for autoantibodies proved negative throughout. It was concluded that focal sialoadenitis was not uncommon in our patients with AOSD. Whether this finding corresponds to a true SS is not yet clearly determined.

Adult↗

Streptococcus pyomyositis occurring in a patient with dermatomyositis in a country with temperate climate.

We describe a man in whom pyomyositis developed in a temperate climate. Three facts make this case unique. First the pyomyositis developed in someone with underlying dermatomyositis, this being the second reported case to our knowledge. Second, the organism involved was a Streptococcus and not a Staphylococcus as in most cases described, and the course of the disease was acute and not subacute as is usually reported. Finally, contrary to most described cases, surgical drainage was not necessary, probably because of the early diagnosis. Pyomyositis should be considered a possible cause of localized pain in patients with underlying inflammatory muscle disease.

Adult↗

Clinical and serologic characteristics of patients with overlap syndrome: is mixed connective tissue disease a distinct clinical entity?

We discuss the clinical and serologic features of 27 patients with overlap syndrome followed prospectively by our group. The findings are similar to those of other reports, but we have drawn attention to the presence of peritendinous nodules in these patients and mentioned some peculiar neurologic manifestations. Rheumatoid arthritis was the most common diagnosis in our patients. The presence of high-titer antibodies against the nuclear ribonucleoprotein fraction of extractable nuclear antigen (nRNP) did not allow the identification of a particular subgroup. However, patients with this antibody tended to fulfill more criteria of more diseases than those without it. The findings lead us to conclude that antibodies to nRNP do not identify a particular subgroup within the overlap syndromes and that mixed connective tissue disease does not appear to be a distinct entity.

Female↗

Placental lesions in maternal autoimmune diseases.

We have investigated the presence and clinical implications of maternal vascular lesions and chronic villitis of unknown etiology (CVUE) in 18 placentas of 15 mothers with several autoimmune diseases (AD), including, for the first time, idiopathic thrombocytopenic purpura, autoimmune thyroid diseases, and multiple sclerosis. The group with AD had significantly more maternal vascular lesions and CVUE than the control group. We did not find lesions that could be attributed to any of the diseases in particular. The histopathologic picture was similar in these diseases, although there appears to be a spectrum in severity. Placental vascular damage with deposits of IgM, C3, and C1q was more prominent in systemic lupus erythematosus and in a patient with systemic sclerosis. In both of these diseases but not in the other conditions, these lesions were related to poor fetal outcome. Although the precise role of each of these autoimmune diseases in pregnancy and fetal outcome remains to be established, there appears to be at least one link between them represented by the presence of severe acute atherosis and heavy granular vascular deposits of IgM, C3, and C1q associated in some with poor fetal outcome. The role of CVUE remains speculative.

Adult↗

Reflex sympathetic dystrophy and early damage of carpal bones.

A 56-year-old woman presented with changes characteristic of the reflex sympathetic dystrophy syndrome (RSDS) but also frank synovitis of the left wrist, an elevated ESR and early damage of the left carpus on radiographs, suggesting septic arthritis. A dynamic scan showed changes characteristic of RSDS. A sample of synovium and bone from the wrist showed non-specific inflammation with partial destruction of cartilage by synovial pannus and involvement of subchondral bone by the inflammatory process. The search for the cause of infection was unsuccessful. Patchy osteopaenia developed 3 months after onset. At the 12 month follow-up, the course of disease was compatible with RSDS and destruction of the carpus had not progressed. Attention is drawn to the difficulty in reaching a precise diagnosis in early stages and the need to exclude infection.

Arthritis, Infectious↗

Systemic lupus erythematosus in the elderly: clinical and serological characteristics.

Thirteen patients (all women) who developed systemic lupus erythematosus (SLE) after the age of 55 are reported. They constitute 18% of 71 consecutive SLE patients followed prospectively. Presenting features were predominantly cutaneous, neuropsychiatric and pulmonary. They had more interstitial lung disease and less arthritis than the younger patients. Eleven had positive antinuclear antibodies and only 4 had antibody to DNA. Strikingly, 12 had antibody to Ro(SSA) (accompanied by anti-La(SSB) in 8) compared to 36% in the younger group. SLE should be considered in older patients. Lung involvement is prominent. Antibodies to Ro and La are frequent and are a useful aid in diagnosis.

Aged↗

Genetic susceptibility to scleroderma-like syndrome induced by vinyl chloride.

Vinyl chloride (VC) monomer can induce a scleroderma-like syndrome in a proportion of workers exposed to it during production of polyvinyl chloride. As part of a 5-year follow-up study HLA A, B, and DR antigens and anti-centromere and anti-scleroderma-70 antibodies were determined in 44 such workers. 21 of these had severe and 23 mild forms of vinyl-chloride disease. 50 patients with "classical" scleroderma and 148 healthy hospital workers acted as controls. 11 of the 21 patients classified as having severe VC disease were DR3 positive, and 8 of these had both B8 and DR3 antigens. None of the 23 patients with mild disease carried either antigen. The HLA-antigen frequencies in VC disease mirrored those found in scleroderma (raised DR5 frequency and increased linkage disequilibrium between B8 and DR3). There were, however, significant differences in the frequency of autoantibodies in the two conditions.

Autoantibodies↗

Frequency and clinical significance of anticentromere and anti Scl-70 antibodies in an English connective tissue disease population.

To determine the clinical significance of anti-centromere (ACA) and anti Scl-70 antibodies in an English population with connective tissue diseases, we examined the sera of 150 patients, including 40 with systemic sclerosis (SS), who were prospectively studied on the same clinical protocol in our connective tissue disease clinic. ACA was present in 44% of the CREST patients as opposed to only 12% of those with SS and diffuse skin involvement. Only two patients without SS had ACA. Anti Scl-70 was detected in 20% of the patients with SS and only two of those with other connective tissue diseases. We confirmed the specificity of these antibodies for SS. Either anti Scl-70 or ACA was present in half the patients with SS and their presence may represent a useful aid to diagnosis of this disease in patients presenting with Raynaud's phenomenon or an undifferentiated connective tissue disease. While less than half the CREST patients had ACA, this antibody appears to identify those patients within the CREST variant with skin involvement confined to sclerodactyly as opposed to those with acrosclerosis. These patients, however, did not differ in the degree of visceral involvement.

Adult↗

Serological markers in progressive systemic sclerosis: clinical correlations.

The relation between clinical and serological findings was studied in 75 patients with definite progressive systemic sclerosis (PSS). Antinuclear antibodies were detected by indirect immunofluorescence in 95% of the patients by means of HEp-2 cells. The centromere pattern was observed in 50% of the patients with calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, and telangiectasia (CREST) and only 7% of the group with diffuse disease. Precipitating antibodies to nuclear and cytoplasmic antigens were detected by immunodiffusion in 53% of the patients and identified as anti Scl-70 in 16 (21%). We confirmed that autoantibodies are very frequent in PSS but varied in specificity. A combination of immunodiffusion and indirect immunofluorescence was useful in detecting antibodies characteristic of PSS (i.e., anti-Scl-70 and anticentromere) in 51% of these patients. Anticentromere antibody has a high specificity for CREST and identifies patients with less severe disease (i.e., more prolonged course and less involvement of internal organs). Anti-Scl-70 was associated with a high frequency of lung involvement.

Adult↗

Baker's cysts, pseudothrombophlebitis, pseudo-pseudothrombophlebitis: where do we stand?

The diagnostic approach and therapeutic attitudes to be assumed when facing the dilemma of deep vein thrombosis versus a complicated Baker's cyst remain unclear. We examined our own approach with 16 Baker's cysts [11 presenting with a "thrombophlebitis picture" (TP)] recently diagnosed in our services, and reviewed the literature. All of our patients had an underlying joint disorder and previous knee effusions. The diagnostic approach (i.e., the request or not for venography) was related to the specialty of the physician who saw the patient first. The results of the venography led to anticoagulation treatment in 5 of the 6 patients on whom it was performed, although these patients did not otherwise differ from those with a similar clinical picture in whom no venogram was obtained. Arthrograms performed early after onset of the TP were more likely to reveal cyst rupture. The recent literature does not mention serious venous complications (in particular, pulmonary embolism) in patients in whom only the cyst was treated, without knowledge of possible coexisting venous occlusions. The need to perform venography, the importance of the localisation of the occlusions and the therapeutic consequences are discussed and a proposal is made to study these patients in a systematic way in order to better understand the inter-relationship between complicated popliteal cysts and venous alterations, and to decide the best approach to assume in the future.

Adult↗