Long-Term Outcome and Prognostic Factors of Juvenile Dermatomyositis: A Multinational, Multicenter Study of 490 Patients

Objective. To investigate the long-term outcome and prognostic factors of juvenile dermatomyositis (DM) through a multinational, multicenter study. Methods. Patients consisted of inception cohorts seen between 1980 and 2004 in 27 centers in Europe and Latin America. Predictor variables were sex, continent, ethnicity, onset year, onset age, onset type, onset manifestations, course type, disease duration, and active disease duration. Outcomes were muscle strength/endurance, continued disease activity, cumulative damage, muscle damage, cutaneous damage, calcinosis, lipodystrophy, physical function, and health-related quality of life (HRQOL). Results. A total of 490 patients with a mean disease duration of 7.7 years were included. At the cross-sectional visit, 41.2-52.8% of patients, depending on the instrument used, had reduced muscle strength/endurance, but less than 10% had severe impairment. Persistently active disease was recorded in 41.2-60.5% of the patients, depending on the activity measure used. Sixty-nine percent of the patients had cumulative damage. The frequency of calcinosis and lipodystrophy was 23.6% and 9.7%, respectively. A total of 40.7% of the patients had decreased functional ability, but only 6.5% had major impairment. Only a small fraction had decreased HRQOL. A chronic course, either polycyclic or continuous, consistently predicted a poorer outcome. Mortality rate was 3.1%. Conclusion. This study confirms the marked improvement in functional outcome of juvenile DM when compared with earlier literature. However, many patients had continued disease activity and cumulative damage at followup. A chronic course was the strongest predictor of poor prognosis. These findings highlight the need for treatment strategies that enable a better control of disease activity over time and the reduction of nonreversible damage.

Role of the CYP2D6, EPHX1, MPO, and NQO1 Genes in the Susceptibility to Acute Lymphoblastic Leukemia in Brazilian Children

Polymorphic variations of several genes associated with dietary effects and exposure to environmental carcinogens may influence susceptibility to leukemia development. The objective of the present study was to evaluate the effect of the polymorphisms of debrisoquine hydroxylase (CYP2D6), epoxide hydrolase (EPHX1), myeloperoxidase (MPO), and quinone-oxoreductase (NQO1), which have been implicated in xenobiotic metabolism, on the risk of childhood acute lymphoblastic leukemia (ALL). We evaluated the frequency of polymorphisms in the CYP2D6 (*3 and *4), EPHX1 (*2 and *3), MPO (*2), and NQO1 (*2) genes in 206 patients with childhood ALL and in 364 healthy individuals matched for age and gender from a Brazilian population separated by ethnicity (European ancestry and African ancestry), using the PCR-RFLP method. The CYP2D6 polymorphism variants were associated with an increased risk of ALL. The EPHX1, NQO1, and MPO variant genotypes were significantly associated with a reduced risk of childhood ALL. A significantly stronger protective effect is observed when the EPHX1, NQO1, and MPO variant genotypes are combined suggesting that, CYP2D6 polymorphisms may play a role in the susceptibility to pediatric ALL, whereas the EPHX1, NQO1, and MPO polymorphisms might have a protective function against leukemogenesis. Environ. Mal. Mulagen. 51:48-56, 2010. (C) 2009 Wiley-Liss, Inc.

Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes in a Brazilian population

Polymorphic variations of several genes associated with drugs and xenobiotic metabolism have been linked to the factors that predispose to the carcinogenesis process. As considerable interindividual and interethnic variation in metabolizing enzyme activity has been associated with polymorphic alleles, we evaluated the frequency of the polymorphisms of CYP2D6, EPHX1 and NQO1 genes in 361 Brazilian individuals separated by ethnicity (European and African ancestry), using the polymerase chain reaction-restriction fragment length (PCR-RFLP) method. The allele frequencies of the variants *3 and *4 for the gene CYP2D6 were 0.04 and 0.14 for white subjects and 0.03 and 0.10 for black individuals, respectively. For the both variants of the gene EPHX1, we found higher allele frequencies among white individuals compared with mulatto subjects (0.62 vs 0.54 and 0.18 vs 0.14, respectively); however, these differences were not statistically significant (p = 0.39 and 0.56, respectively). For the NQO1 gene we observed a higher frequency of the homozygous genotype among black individuals (7.9%) compared with white subjects (6.3%) (p = 0.003). The genotype frequencies were within the Hardy-Weinberg equilibrium. We concluded that the allele frequencies of CYP2D6, EPHX1 and NQO1 gene polymorphisms in this Brazilian population showed ethnic variability when compared with those observed in other populations.

Systemic lupus erythematosus: Association with KIR and SLC11A1 polymorphisms, ethnic predisposition and influence in clinical manifestations at onset revealed by ancestry genetic markers in an urban Brazilian population

Systemic lupus erythematosus (SLE) is an autoimmune disorder of the connective tissue with a wide and heterogeneous spectrum of manifestations, with renal and neurological involvement usually related to worse prognosis. SLE more frequently affects females of reproductive age, and a high prevalence and renal manifestation seem to be associated with non-European ethnicity. The present study aims to investigate candidate loci to SLE predisposition and evaluate the influence of ethnic ancestry in the disease risk and clinical phenotypic heterogeneity of lupus at onset. Samples represented by 111 patients and 345 controls, originated from the city of Belem, located in the Northern Region of Brazil, were investigated for polymorphisms in HLA-G, HLA-C, SLC11A1, MTHFR, CASP8 and 15 KIR genes, in addition to 89 Amerindian samples genotyped for SLC11A1. We also investigated 48 insertion/deletion ancestry markers to characterize individual African, European and Amerindian ancestry proportions in the samples. Predisposition to SLE was associated with GTGT deletion at the SLC11A1 3`UTR, presence of KIR2DS2 +/KIR2DS5 +/KIR3DS1 + profile, increased number of stimulatory KIR genes, and European and Amerindian ancestries. The ancestry analysis ruled out ethnic differences between controls and patients as the source of the observed associations. Moreover, the African ancestry was associated with renal manifestations. Lupus (2011) 20, 265-273.

HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5` nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58-5.97, p = 1.18 x 10(-09)) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36-0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

Characterisation of additional mental foramina through cone beam computed tomography

Variations in jaw bone neurovascularisation must be identified to decrease the potential risk for haemorrhages and neural disturbances during surgical procedures such as implant placement and orthognatic surgeries. The aim of this study is to characterise additional mental foramina (AMF) through cone beam computed tomography (CBCT) images, by describing their frequency, size, location and direction of their associated bony canals, as well as to assess their corresponding ipsilateral and contralateral mental foramina (MF). CBCT images from 285 patients were analysed. Prevalence of AMF was 9.4%. From 0 to 2 AMF were observed, with two bilateral cases. Two cases of unilateral absence of MF were registered. Patients presenting AMF did not differ significantly from those without AMF regarding gender, age or ethnicity. Diameters of AMF and their corresponding ipsilateral and contralateral MF were 1.9 mm (+/- 0.7 mm), 3.8 mm (+/- 0.6 mm) and 4.1 mm (+/- 0.6 mm), respectively. Ratios between diameters of AMF and corresponding ipsilateral MF ranged between 0.24 and 0.99. Location of AMF was variable, with most cases located posteriorly, posterior-inferiorly, posterior-superiorly or anterior-superiorly to their respective MF. Significant anatomical variability regarding neurovascularisation was observed among patients and CBCT examinations presented as a valuable tool for individually assessing these anatomical features.

Relating body mass index to figural stimuli: population-based normative data for Caucasians

OBJECTIVE: To establish body mass index (BMI) norms for standard figural stimuli using a large Caucasian population-based sample. In addition, we sought to determine the effectiveness of the figural stimuli to identify individuals as obese or thin. DESIGN: All Caucasian twins born in Virginia between 1915 and 1971 were identified by public birth record. In addition, 3347 individual twins responded to a letter published in the newsletter of the American Association of Retired Persons (AARP). All adult twins (aged 18 and over) from both of these sources and their family members were mailed a 16 page 'Health and Lifestyle' questionnaire. SUBJECTS: BMI and silhouette data were available on 16 728 females and 11 366 males ranging in age from 18- 100. MEASUREMENTS: Self-report information on height-weight, current body size, desired body size and a discrepancy score using standard figural stimuli. RESULTS: Gender- and age-specific norms are presented linking BMI to each of the figural stimuli. Additional norms for desired body size and discrepancy scores are also presented. Receiver operating curves (ROC) indicate that the figural stimuli are effective in classifying individuals as obese or thin. CONCLUSIONS: With the establishment of these norms, the silhouettes used in standard body image assessment can now be linked to BMI. Differences were observed between women and men in terms of desired body size and discrepancy scores, with women preferring smaller sizes. The figural stimuli are a robust technique for classifying individuals as obese or thin.

The play of identities in Cypriot-Australian family storytelling

This article adopts a microanalytic approach to examine storytelling as a co-construction by family members in a Cypriot-Australian family. Previous studies on family storytelling have focused on the various roles of family members in storytelling with a means of studying family socialization (Miller et al., 1990; Ochs & Taylor, 1992; Blum-Kulka, 1997). These studies used critical discourse analysis, socioculturel theories, performance and pragmatic approaches to storytelling. This article offers a distinctive approach to family storytelling by examining the discourse and social identities that family members display during the storytelling. The data originate in a study that involves interviews with three generations of Greek-Australian and Cypriot-Australian women regarding their relationships with each other. In this paper we investigate the contributions of the father and the daughters in the course of the mother's turn at storytelling. The first part of the analysis focuses on the husband's discourse identities as a contributor, initiator and elicitor of his wife's storytelling. During the storytelling we also observe the production and exchange of different social identities between the husband and the mother, such as the 'unwilling suitor', the 'embarrassed schoolgirl' or the 'forceful but teasing husband'. The second part describes how the daughters take part in their mother's storytelling, producing a variety of identities such as the 'impatient mother', the 'complaining', 'happy', or 'good' mothers and daughters. These investigations succinctly illustrate how narratives become a resource for members' 'display' and 'play' of identities. Copyright ©2002, John Benjamins B.V.

A decade of Taiwanese migration in Australia: Comparisons with Mainland Chinese and Hong Kong settlers

The arrival of Taiwanese migrants to Australia represents the second major wave of Chinese immigration to this nation. Many who entered Australia did so as business migrants. They were typically well educated, affluent professionals, managers, &/or entrepreneurs who were looking for new business opportunities as well as a lifestyle characterized by open space, clean air, a good education for their children, & personal & political safety. Yet, the settlement experiences of many Taiwanese migrants, despite their affluence & (business) skills, have been typified by stress & hardship, particularly in making adjustments in social, business, & economic relationships. A review of statistical data compiled from census & government reports in Australia has revealed that after a decade Down Under, the Taiwanese settler group was still characterized by high unemployment, even when compared to other Chinese migrant groups from Hong Kong & Mainland China. It is suggested that the Taiwanese migrants' persistent high nonparticipation in Australia's labor force is indicative & poignant of their highly distinctive, albeit not exclusive in the broader Chinese migrant terms, experience of migration settlement. There seems to be an increasing number of Taiwanese settlers returning to resettle in Taiwan in recent years, because of perceived better employment & business opportunities or for family & personal reasons. Recent interviews with Taiwanese settlers have also suggested that the most recent arrivals, being more aware of the obstacles in achieving work or business satisfaction during settlement, seem less likely to commit themselves to lifelong settlement in Australia. 16 Tables, 1 Figure, 37 References. Adapted from the source document.