Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.

Prevalence and management of cardiovascular risk factors in Portuguese residents and Portuguese who migrated to Switzerland

Background: there is little information regarding the health status of migrants compared to subjects who remained in their country of origin. The aim was to compare Portuguese living in Porto (Portugal) with Portuguese migrants living in Lausanne (Switzerland). Design: cross-sectional studies conducted in Porto (EpiPorto, n=1150) and Lausanne (CoLaus, n=388) among Portuguese subjects aged between 35 and 65 years. Methods: body mass index, blood pressure, cholesterol and glucose levels were assessed using standardized procedures. Educational level, antihypertensive, hypocholesterolemic and antidiabetic treatments were collected using questionnaires. Results: Portuguese living in Lausanne were younger, more frequently male and had a lower education than Portuguese living in Porto. After multivariate adjustment, Portuguese living in Porto had a higher likelihood of being obese [Odds ratio and 95% confidence interval: 1.40 (1.01-1.94)] or abdominal obese [OR: 1.40 (1.02-1.93)] than Portuguese living in Lausanne. Portuguese living in Porto had a higher likelihood of being hypertensive than Portuguese living in Lausanne [OR: 1.38 (1.01-1.90)], while no differences were found regarding hypertension management and control. Portuguese living in Porto had a higher likelihood of being hypercholesterolemic [OR: 1.40 (1.06-1.85)] and were less likely to be treated [OR: 0.47 (0.27-0.83)] and controlled [OR: 0.47 (0.27-0.83)] than Portuguese living in Lausanne. Finally, no differences were found regarding smoking, prevalence and management of diabetes. Conclusion: Portuguese living in Lausanne, Switzerland, present a better cardiovascular risk profile and tend to be better managed regarding their cardiovascular risk factors than Portuguese living in Porto, Portugal.

Underdiagnosed and undertreated: obesity in the portuguese population.

Comment on: Post RE, Mainous AG 3rd, Gregorie SH, Knoll ME, Diaz VA, Saxena SK. The influence of physician acknowledgment of patients' weight status on patient perceptions of overweight and obesity in the United States. Arch Intern Med. 2011 Feb 28;171(4):316-21. PMID: 21357807.

Prevalence and management of cardiovascular risk factors in Portuguese living in Portugal and Portuguese who migrated to Switzerland.

BACKGROUND: Information regarding the health status of migrants compared to subjects who remain in the country of origin is scarce. We compared the levels and management of the main cardiovascular risk factors between Portuguese living in Porto (Portugal) and Portuguese migrants living in Lausanne (Switzerland). METHODS: Cross-sectional studies conducted in Porto (EPIPorto, 1999 to 2003, n = 1150) and Lausanne (CoLaus, 2003 to 2006, n = 388) among subjects aged 35-65 years. Educational level, medical history and time since migration were collected using structured questionnaires. Body mass index, blood pressure, cholesterol and glucose levels were measured using standardized procedures. RESULTS: Portuguese living in Lausanne were younger, more frequently male and had lower education than Portuguese living in Porto. After multivariate adjustment using Poisson regression, no differences were found between Portuguese living in Porto or in Lausanne: prevalence rate ratio (PRR) and (95% confidence interval) for Portuguese living in Lausanne relative to Portuguese living in Porto: 0.92 (0.71 - 1.18) for current smoking; 0.78 (0.59 - 1.04) for obesity; 0.81 (0.62 - 1.05) for abdominal obesity; 0.82 (0.64 - 1.06) for hypertension; 0.88 (0.75 - 1.04) for hypercholesterolemia and 0.92 (0.49 - 1.73) for diabetes. Treatment and control rates for hypercholesterolemia were higher among Portuguese living in Lausanne: PRR = 1.91 (1.15 - 3.19) and 3.98 (1.59 - 9.99) for treatment and control, respectively. Conversely, no differences were found regarding hypertension treatment and control rates: PRR = 0.98 (0.66 - 1.46) and 0.97 (0.49 - 1.91), respectively, and for treatment rates of diabetes: PRR = 1.51 (0.70 - 3.25). CONCLUSIONS: Portuguese living in Lausanne, Switzerland, present a similar cardiovascular risk profile but tend to be better managed regarding hypercholesterolemia than Portuguese living in Porto, Portugal.