The International LAM Registry: A Component of an Innovative Web-Based Clinician, Researcher, and Patient-Driven Rare Disease Research Platform

Background: A relative friability to capture a sufficiently large patient population in any one geographic location has traditionally limited research into rare diseases. Methods and Results: Clinicians interested in the rare disease lymphangioleiomyomatosis (LAM) have worked with the LAM Treatment Alliance, the MIT Media Lab, and Clozure Associates to cooperate in the design of a state-of-the-art data coordination platform that can be used for clinical trials and other research focused on the global LAM patient population. This platform is a component of a set of web-based resources, including a patient self-report data portal, aimed at accelerating research in rare diseases in a rigorous fashion. Conclusions: Collaboration between clinicians, researchers, advocacy groups, and patients can create essential community resource infrastructure to accelerate rare disease research. The International LAM Registry is an example of such an effort.

Frequency of LCT-13910C > T single nucleotide polymorphism associated with adult-type hypolactasia/lactase persistence among Brazilians of different ethnic groups

Background: Adult-type hypolactasia, the physiological decline of lactase some time after weaning, was previously associated with the LCT -13910C>T polymorphism worldwide except in Africa. Lactase non-persistence is the most common phenotype in humans, except in northwestern Europe with its long history of pastoralism and milking. We had previously shown association of LCT -13910C>T polymorphism with adult-type hypolactasia in Brazilians; thus, we assessed its frequency among different Brazilian ethnic groups. Methods: We investigated the ethnicity-related frequency of this polymorphism in 567 Brazilians [mean age, 42.1 +/- 16.8 years; 157 (27.7%) men]; 399 (70.4%) White, 50 (8.8%) Black, 65 (11.5%) Brown, and 53 (9.3%) Japanese-Brazilian. DNA was extracted from leukocytes; LCT -13910C>T polymorphism was analyzed by PCR-restriction fragment length polymorphism. Results: Prevalence of the CC genotype associated with hypolactasia was similar (57%) among White and Brown groups; however, prevalence was higher among Blacks (80%) and those of Japanese descent (100%). Only 2 (4%) Blacks had TT genotype, and 8 (16%) had the CT genotype. Assuming an association between CC genotype and hypolactasia, and CT and TT genotypes with lactase persistence, 356 (62.8%) individuals had hypolactasia and 211 (37.2%) had lactase persistence. The White and Brown groups had the same hypolactasia prevalence (similar to 57%); nevertheless, was 80% among Black individuals and 100% among Japanese-Brazilians (P < 0.01). Conclusion: The lactase persistence allele, LCT -13910T, was found in about 43% of both White and Brown and 20% of the Black Brazilians, but was absent among all Japanese Brazilians studied.

Wolbachia: why these bacteria are important to genome research

Intracellular bacteria of the genus Wolbachia were first discovered in mosquitoes in the 1920s. Their superficial similarity to pathogenic rickettsia initially raised interest in them as potential human pathogens. However, injection experiments with mice showed that they were non-pathogenic, and they were subsequently classified as symbionts of insects. Until the 1970s, Wolbachia was considered to infect a limited number of species of mosquitoes. It is now clear that Wolbachia is an extremely common intracellular agent of invertebrates, infecting nearly all the major groups of arthropods and other terrestrial invertebrates. Its wide host range and abundance can be attributed partly to the unusual phenotypes it exerts on the host it infects. These include the induction of parthenogenesis (the production of female offspring from unmated mothers) in certain insects, the feminization of genetic male crustaceans to functional phenotypic females, and the failure of fertilization in hosts when males and females have a different infection status (cytoplasmic incompatibility). All of these phenotypes favor maternal transmission of the intracellular Wolbachia. In the last year, Wolbachia has also been shown to be a widespread symbiont of filarial nematodes. It appears that Wolbachia is needed by the adult worm for normal fertility, indicating that Wolbachia is behaving like a classic mutualist in this case. This discovery exemplifies that the extent of the host range of Wolbachia and its associated phenotypes is still far from fully understood.

International tourists and road safety in Australia: developing a national research and management programme

Motor vehicle crashes are the leading cause of injury death for international tourists. This makes road safety an important issue for tourism authorities. Unfortunately, as it is in other areas of tourist health, the common response from the travel and tourism industry is to remain silent about this problem and to leave any mishaps in the hands of insurers. At the same time, but for different reasons, international tourists are not usually targeted for road safety initiatives by transport authorities. Given that there are considerable 'hidden' costs associated with international tourists and motor vehicle crashes, the topic should be of concern to both tourism and transport groups. This paper examines issues concerned with driving in unfamiliar surroundings for international visitors in Australia, and proposes a national research and management programme to guide policy and planning in the area. (C) 1999 Elsevier Science Ltd. All rights reserved.

Exploratory research: Citizen participation, local government and sustainable development in Australia

Exploratory research reported in this paper was undertaken in Adelaide, Australia during 1998/99. The purpose of the research is to explore local development practice as evidenced through the experiences and actions of local citizens, community based groups and local government (Neuman, 1994). Results from this first stage research suggest that sustainability initiatives in Australia might best be implemented through a collaborative approach at the local community level involving local citizens working in partnership with local government. Copyright (C) 2002 John Wiley & Sons, Ltd and ERP Environment.

Outcome research in psychodynamic psychotherapy: Psychological, social and neuropsychological factors

While many studies have demonstrated positive outcomes from psychotherapy when it is practiced in a controlled research environment with carefully selected (or excluded) patient groups and rigid manualised therapy sessions there is a paucity of research regarding effective outcomes from psychotherapy as it is practiced in actual clinical conditions. The aim of this series of studies was to investigate outcomes, using an effectiveness approach, from psychodynamic psychotherapy as it is practiced by private psychiatrists. Three studies were planned. The aim of Study 1 was to provide standardized baseline measures on the following dimensions • Personal Demographic Information (PDI), • Target Symptoms and Disorders (TSD) including a neuropsychological profile • Inter and Intra Personal (IIP) factors, and, • General Functioning and Quality of Life (GFQoL) factors. Study 2 aimed to examine changes in patient characteristics during the course of treatment. Thus, baseline assessments were repeated at sixmonthly intervals to determine if therapy had been effective for individual patients. A third study was planned to assess the extent to which the results of significant outcome predictors could be replicated in different patient samples. Twenty-nine psychiatrists consented to refer patients with 20 patients having completed pre therapy assessments and six and 18-month follow-up questionnaires. The presentation of this research will focus on the interesting research methodology utilized, patient demographic characteristics and on the patient changes occurring over time on the dimensions of Defence Style (DSQ), Quality of Life (WHOQOL- Bref) and the severity of depression (BDI). The patient sample included 10 male and 10 female patients, whose ages ranged from 19 years to 66 years (mean = 43 years). While seven of the patients did not meet SCID-IV criteria for a current DSM-IV Axis 1 disorder, six patients met criteria for a current mood disorder, three for panic disorder, one patient each for PTSD, alcohol abuse and dependence, and 2 patients met current criteria for multiple Axis 1 disorders. The research is ongoing.

The Development of Science Education Research in Brazil and Contributions from the History and Philosophy of Science

Over the last 50 years a new research area, science education research, has arisen and undergone singular development worldwide. In the specific case of Brazil, research in science education first appeared systematically 40 years ago, as a consequence of an overall renovation in the field of science education. This evolution was also related to the political events taking place in the country. We will use the theoretical work of Rene Kaes on the development of groups and institutions as a basis for our discussion of the most important aspects that have helped the area of science education research develop into an institution and kept it operating as such. The growth of this area of research can be divided into three phases: The first was related to its beginning and early configurations; the second consisted of a process of consolidation of this institution; and the third consists of more recent developments, characterised by a multiplicity of research lines and corresponding challenges to be faced. In particular, we will analyse the special contributions to this study gleaned from the field known as the history and philosophy of science.

A quantitative coronary angiography-matched comparison between a prospective randomised multicentre cutting balloon angioplasty and bare metal stent trial (REDUCE III) and the Rapamycin-Eluting Stent Evaluation At Rotterdam Cardiology Hospital (RESEARCH) study

Aims: There remains significant concern about the long-term safety of drug-eluting stents (DES). However, bare metal stents (BMS) have been used safely for over two decades. There is therefore a pressing need to explore alternative strategies for reducing restenosis with BMS. This study was designed to examine whether IVUS-guided cutting balloon angioplasty (CBA) with BMS could convey similar restenosis rates to DES. Methods and results: In the randomised REstenosis reDUction by Cutting balloon angioplasty Evaluation (REDUCE III) study, 521 patients were divided into four groups based on device and IVUS use before BMS (IVUS-CBA-BMS: 137 patients; Angio-CBA-BMS: 123; IVUS-BA-BMS: 142; and Angio-BA-BMS: 119). At follow-up, the IVUS-CBA-BMS group had a significantly lower restenosis rate (6.6%) than the other groups (p=0.016). We performed a quantitative coronary angiography (QCA) based matched comparison between an IVUS-guided CBA-BMS strategy (REDUCE III) and a DES strategy (Rapamycin-Eluting-Stent Evaluation At Rotterdam Cardiology. Hospital, the RESEARCH study). We matched the presence of diabetes, vessel size, and lesion severity by QCA. Restenosis (>50% diameter stenosis at follow-up) and target vessel revascularisation (TVR) were examined. QCA-matched comparison resulted in 120-paired lesions. While acute gain was significantly greater in IVUS-CBA-BMS than DES (1.65 +/- 0.41 mm vs. 1.28 +/- 0.57 mm, p=0.001), late loss was significantly less with DES than with IVUS-CBA-BMS (0.03 +/- 0.42 mm vs. 0.80 +/- 0.47 mm, p=0.001). However, no difference was found in restenosis rates (IVUS-CBA-BMS: 6.6% vs. DES: 5.0%, p=0.582) and TVR (6.6% and 6.6%, respectively). Conclusions: An IVUS-guided CBA-BMS strategy yielded restenosis rates similar to those achieved by DES and provided an effective alternative to the use of DES.

Participatory ergonomics: Understanding the contributions of reflection groups in a hospital food service

Aim: To identify how the methodology of Reflection Groups (RG) can contribute to approach social-psychological problems, so often observed as obstacles in PE efforts. The objective was also to verify the contributions from RG to the implementation of ergonomics recommendations, which were a starting point and organized group discussions. Method: A concrete case was used as an illustration, and studied in depth: RG with administration and production workers` representatives from the Department of Nutrition and Dietetics of a cardiologic hospital in Sao Paulo, Brazil. RG are temporary thinking groups, taking place outside the workplace and having delegative and consultive participation. They make use of Operative Groups, an adapted form of tripartite group, activity as an instrumental resource, group dynamic techniques and videotaping. In 2007, 31 meetings took place during paid working hours with 7 groups of different composition, ranging from 1.5 h to 3 h. Results: Additionally to the positive effects in communication and psychosocial environment, RG could also contribute to changes in interpersonal relationships, cooperation, personal and work behaviours. By dealing with aspects which could hinder the explicit task: fears, conflicts, and stereotyped beliefs and behaviours; resistance to change could be broken and group members could learn. RG allowed input about new risks; continuous information and feedback about ongoing ergonomics interventions so that immediate corrective action could be taken. The main form of participation was in administrative, organizational, and psychosocial problems which required a better clarification and identification of their real causes, commitment, and elaboration of strategies and negotiation of different stakeholders in their solution. Conclusion: RG takes advantage of homogeneous and heterogeneous groups, in face to face communication. The interactions in the groups are task-oriented (explicit task) but attaining groups` goals depends on a relational interaction (implicit task). Relevance to industry: Reflection groups can bring important contributions to ergonomics and industry because they favour the discussion, disclosure of problems and incorporation of solutions, enabling interventions in working organization, psychosocial environment and relationships in a collective and participatory approach, promoting health and social integration. (C) 2010 Elsevier B.V. All rights reserved.

The Aging Process of the Heart: Obesity Is the Main Risk Factor for Left Atrial Enlargement During Aging The MONICA/KORA (Monitoring of Trends and Determinations in Cardiovascular Disease/Cooperative Research in the Region of Augsburg) Study

Objectives This prospective study evaluated the association of obesity and hypertension with left atrial (LA) volume over 10 years. Background Although left atrial enlargement (LAE) is an independent risk factor for atrial fibrillation, stroke, and death, little information is available about determinants of LA size in the general population. Methods Participants (1,212 men and women, age 25 to 74 years) originated from a sex-and age-stratified random sample of German residents of the Augsburg area (MONICA S3). Left atrial volume was determined by standardized echocardiography at baseline and again after 10 years. Left atrial volume was indexed to body height (iLA). Left atrial enlargement was defined as iLA >= 35.7 and >= 33.7 ml/m in men and women, respectively. Results At baseline, the prevalence of LAE was 9.8%. Both obesity and hypertension were independent predictors of LAE, obesity (odds ratio [OR]: 2.4; p < 0.001) being numerically stronger than hypertension (OR: 2.2; p < 0.001). Adjusted mean values for iLA were significantly lower in normal-weight hypertensive patients (25.4 ml/m) than in obese normotensive individuals (27.3 ml/m; p = 0.016). The highest iLA was found in the obese hypertensive subgroup (30.0 ml/m; p < 0.001 vs. all other groups). This group also presented with the highest increase in iLA (+6.0 ml/m) and the highest incidence (31.6%) of LAE upon follow-up. Conclusions In the general population, obesity appears to be the most important risk factor for LAE. Given the increasing prevalence of obesity, early interventions, especially in young obese individuals, are essential to prevent premature onset of cardiac remodeling at the atrial level. (J Am Coll Cardiol 2009; 54: 1982-9) (C) 2009 by the American College of Cardiology Foundation

Lipopolysaccharide from Escherichia coli prevents indomethacin-induced gastric damage in rats: role of non-protein sulfhydryl groups and leukocyte adherence

To investigate the role of non-protein sulfhydryl groups (NP-SH) and leukocyte adhesion in the protective effect of lipopolysaccharide (LPS) from Escherichia coli against indomethacin-induced gastropathy. Male Wistar rats were divided into four groups: saline, LPS, saline + indomethacin and LPS + indomethacin, with six rats in each group. Rats were pretreated with LPS (300 mu g/kg, by intravenous) or saline. After 6 h, indomethacin was administered (20 mg/kg, by gavage). Three hours after treatments, rats were killed. Macroscopic gastric damage, gastric NP-SH concentration, myeloperoxidase (MPO) activity and mesenteric leukocyte adhesion (intravital microscopy) were assessed. Statistical analysis was performed using one-way analysis of variance followed by the Newman-Keuls test. Statistical significance was set at P < 0.05. LPS reduced the gastric damage, gastric MPO activity and increased gastric NP-SH concentration in indomethacin-induced gastropathy. LPS alone increased gastric NP-SH when compared to saline. Indomethacin increased leukocyte adhesion when compared to the saline, and LPS reduced indomethacin-induced leukocyte adhesion. In addition, LPS alone did not change leukocyte adhesion, when compared to the saline. LPS protective effect against indomethacin-induced gastropathy is mediated by an increase in the NP-SH and a decrease in leukocyte-endothelial adhesion.

Older adults' trait ratings of three age groups around the Pacific rim

In this paper, we assess the traits that older adultsassociate with younger, middle-aged, and older adults in fivePacific Rim nations from Western and Eastern cultural traditions(Australia, People's Republic of China (PRC), Hong Kong,Philippines, Thailand). We find cross-cultural trends whichreplicate patterns found in the US context. In most cultures,attractiveness, strength, activity, liberalism, health, andflexibility are seen to decline with increasing age. Kindnessassessments are positively associated with age across cultures. Mixed patterns are found with assessments of wisdom andgenerosity, with respondents from the PRC and Hong Kong beingnotably more negative about increasing age than otherrespondents. Implications for the aging process across culturesare discussed, and suggestions made for future research.

Disability focus groups: A strategy for including people with disability in parishes

This paper reports the findings of an exploratory qualitative study examining parish awareness of the need to include individuals with disability in genuine and meaningful ways. Based on the interviews of over thirty persons, including people with disability, parents, parish workers, volunteers and human service workers within church agencies in the Catholic Archdiocese of Brisbane, Australia, the authors devised a process for including individuals in parishes. This process, known as a Disability Focus Group, was then implemented in one parish as a pilot study. The outcomes of the pilot are discussed.

Being attuned to intergroup differences in mergers: The role of aligned leaders for low-status groups

The present research focused on responses of low-status group members to a merger with a high-status group. A study was conducted (N = 153) in which the alignment of the leader for the merged group (ingroup vs. outgroup) and leader behavior (equality, outgroup favoritism, ingroup favoritism, complementarity) were manipulated. The authors predicted that the leader, by his or her behavior, would play an important role in defining the new relationship between premerger groups. Overall, low-status ingroup leaders were evaluated more positively than high-status outgroup leaders. Ingroup leaders were evaluated more favorably and were more likely to engender a common identity in the merged group than were outgroup leaders when leaders behaved in an ingroup-favoring or complementary fashion. In contrast, evaluations of ingroup and outgroup leaders did not differ when the leader stressed equality or was outgroup favoring. The findings demonstrate the important role leaders can play in accentuating or de-emphasizing premerger status differences.