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Biomedical subjects

Luis J Catoggio

Publications and source records attributed to Luis J Catoggio.

6 recordsLinked to original sources

Argentine population genetic structure: large variance in Amerindian contribution.

Argentine population genetic structure was examined using a set of 78 ancestry informative markers (AIMs) to assess the contributions of European, Amerindian, and African ancestry in 94 individuals members of this population. Using the Bayesian clustering algorithm STRUCTURE, the mean European contribution was 78%, the Amerindian contribution was 19.4%, and the African contribution was 2.5%. Similar results were found using weighted least mean square method: European, 80.2%; Amerindian, 18.1%; and African, 1.7%. Consistent with previous studies the current results showed very few individuals (four of 94) with greater than 10% African admixture. Notably, when individual admixture was examined, the Amerindian and European admixture showed a very large variance and individual Amerindian contribution ranged from 1.5 to 84.5% in the 94 individual Argentine subjects. These results indicate that admixture must be considered when clinical epidemiology or case control genetic analyses are studied in this population. Moreover, the current study provides a set of informative SNPs that can be used to ascertain or control for this potentially hidden stratification. In addition, the large variance in admixture proportions in individual Argentine subjects shown by this study suggests that this population is appropriate for future admixture mapping studies.

Asian People↗

Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of autoantibodies against intracellular components, the formation of immune complexes, and inflammation in various organs, typically the skin and kidney glomeruli. The etiology of the disease is not well understood but is most likely the result of the interaction between genetic and environmental factors. In order to identify susceptibility loci for SLE, we have performed genome scans with microsatellite markers covering the whole genome in families from Argentina, Italy, and Europe. The results reveal a heterogeneous disease with different susceptibility loci in different family sets. We have found significant linkage to chromosome 17p12-q11 in the Argentine set of families. The maximum LOD score was given by marker D17S1294 in combination with D17S1293, when assuming a dominant inheritance model (Z = 3.88). We also analyzed a repeat in the promoter region of the NOS2A gene, a strong candidate gene in the region, but no association was found. The locus on chromosome 17 has previously been identified in genetic studies of multiple sclerosis families. Several other interesting regions were found at 1p35, 1q31, 3q26, 5p15, 11q23 and 19q13, confirming previously identified loci for SLE or other autoimmune diseases.

Adult↗

The GLADEL multinational Latin American prospective inception cohort of 1,214 patients with systemic lupus erythematosus: ethnic and disease heterogeneity among "Hispanics".

Clinical and laboratory manifestations and outcome of systemic lupus erythematosus (SLE) may vary in different populations. A prospective multinational inception cohort should prove useful in identifying the influence of ethnicity on the clinical characteristics of SLE. We therefore analyzed clinical, laboratory, and prognostic variables in Latin American SLE patients with disease of recent onset who were entered into a prospective cohort, and compared these variables in the cohort's 3 major ethnic groups. Thirty-four centers from 9 Latin American countries participated by randomly incorporating SLE patients within 2 years of diagnosis into a standardized database. Participating centers were selected for their expertise in diagnosing and managing SLE. We were then able to evaluate prospectively socioeconomic variables, ethnicity, type of medical care, clinical and laboratory features, disease activity, damage, and mortality at each site. A coordinating center controlled the quality of the information submitted. Of the 1,214 SLE patients included in the cohort, 537 were mestizos, 507 were white, and 152 were African-Latin American (ALA). (There were also small numbers of pure Amerindian and oriental individuals.) Significant differences were found between them in socioeconomic characteristics, type of care, and level of education favoring whites. Mestizos and ALA were younger at onset. Delay to diagnosis and disease duration was shorter in ALA. Fever was more frequent in whites; discoid lesions in ALA; renal disease and lymphopenia in mestizos and ALA. Although we found differences in background variables between ethnic groups from different countries, mestizos from 2 distant countries (Argentina and Mexico) were clinically akin and showed similar differences to whites. Mortality was associated with lower education, poor medical coverage, and shorter follow-up. In an exploratory model nonwhite ethnicity was associated with renal disease and lymphopenia, damage, and cumulative American College of Rheumatology criteria. These differences in clinical, prognostic, socioeconomic, educational, and access to medical care features in Latin American lupus patients of 3 major ethnic groups from 9 different countries may have an impact on the patients' disease. "Hispanics," as they have come to be generically termed on the basis of language, actually constitute a markedly heterogeneous group of subjects.

Adolescent↗

Consultations for work related low back pain in Argentina.

OBJECTIVE: Low back pain (LBP) is a common cause of disability among people of working age. We investigated the incidence of consultation for work related LBP and of work absence, and determined the prevalence of continued work disability due to LBP in Argentina. METHODS: Our study population comprised 139,740 fulltime workers (mean age 34.4 yrs, range 17-79). An episode of work related LBP was defined as patient consulting because of acute LBP while at work or while traveling to/from work. RESULTS: In a 6 month period 360 episodes of acute LBP were reported in 69,329 worker-years of exposure to risk; thus the episode incidence rate was 5.2/1000 worker-years. This was the third most frequent work related injury. Twenty-one patients (5.8% of episodes) were lost to followup. Those with LBP were significantly older than the population at risk (p < 0.001) and were predominantly men (p < 0.001). In 244 episodes (72%) pain onset was related to heavy physical work and in 46 (13.6%) it followed trauma to the back. Surgery was performed in 9 (2.7%) cases. In total, 322 (98%) patients were absent beyond the day of the injury (median number of days of work absence, 7 days; range 0-422 days). Surgical patients lost significantly more days of work (p < 0.01). Seven patients (2%) remained off work more than 180 days: 2 were declared disabled, 3 moved to lighter jobs, and only 2 (28.5%) returned to their previous job. CONCLUSION: The incidence of consultation for work related LBP was 5.2/1000 worker-years. This was the third most frequent work related injury. Most patients had some work absenteeism. Surgery did not shorten recovery times. Only a minority of patients off work for 6 months or more were able to return to their previous job.

Absenteeism↗

[Polymyalgia rheumatica revisited].

Polymyalgia rheumatica is an inflammatory disorder that usually affects persons over the age of 50 causing proximal muscle pain and stiffness, and an elevated erythrocyte sedimentation rate. Although increasingly recognized in this age group, it remains a diagnosis of exclusion and although several diagnostic criteria have been proposed, none has been clearly accepted. While polymyalgia rheumatica is associated with giant cell arteritis, obtaining a temporal artery biopsy is not recommended in patients with polymyalgia rheumatica without symptoms of giant cell arteritis. Early diagnosis and low dose corticosteroid therapy improve patients' clinical features and functional status. Treatment usually lasts between 12 and 24 months and the majority of patients manage to discontinue treatment completely.

Administration, Oral↗