Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community.

In order to address the unmet needs and create opportunities that benefit patients with rare disease in India, a group of volunteers created a not-for-profit organization named Organization for Rare Diseases India (ORDI; www.ordindia.org). ORDI plans to represent the collective voice and advocate the needs of patients with rare diseases and other stakeholders in India. The ORDI team members come from diverse backgrounds such as genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy and public service. ORDI builds on the lessons learned from numerous similar organizations in the USA, European Union and disease-specific rare disease foundations in India. In this review, we provide a background on the landscape of rare diseases and the organizations that are active in this area globally and in India. We discuss the unique challenges in tackling rare diseases in India, and highlight the unmet needs of the key stakeholders of rare diseases. Finally, we define the vision, mission, goals and objectives of ORDI, identify the key developments in the health care context in India and welcome community feedback and comments on our approach.

A systematic review of asthma and health literacy: a cultural-ethnic perspective in Canada.

BACKGROUND: Asthma is one of the most common inflammatory lung diseases and its prevalence and incidence have increased in many developed and developing countries. Asthma places a heavy burden on healthcare expenditures and productivity, which in turn diminishes the quality of life of the individuals involved as well as their families. The goal of improving a patient's knowledge about asthma management should include the enhancement of the individual's skills with the hopeful outcome of improving how the individual manages the condition. However, when health professionals prepare a training program, they are faced with the challenging cosmopolitan reality of individuals with different ethnic backgrounds. METHODS: In order to find links between asthma and health literacy in a cultural/ethnicity perspective, we performed a systematic review of all publications on the topic of asthma, health, and literacy among cultural groups from 1980 to 2006 using the Internet and journals: Medline (Ovid), ERIC, EMBASE, PsycINFO, Google, Google Scholar, Sociological Abstracts, and Anthropology Plus. Key words included the following: "asthma," "culture," "ethnicity," "literacy," "health," "health literacy," "health beliefs," "adults," "disease management," "chronic condition," "ethnocultural groups," "minority groups," and "newcomers/immigrants." RESULTS: More than 650 articles were initially identified in our review; 65 met our inclusion criteria. From these, we examined the factors related to asthma and literacy/health literacy with a cultural lens. All of these are categorized and summarized below. We chose what we considered to be the most relevant and important articles/documents in the research literature to date. Because many of the studies were qualitative, a formal meta-analytic review was not undertaken. We found that current asthma management techniques - including patient education - are not culturally sensitive, linguistically sensitive, or relevant, which creates further difficulties for ethnocultural communities and minority groups in many Western countries. In this systematic review, several themes were identified, including: approaches to language limitation and cultural barriers; the recognition of healthcare system bias (in terms of culturally competent care); and relationship-building to facilitate participatory decision-making by both provider and patient. This review provides further understanding and considerations regarding the beliefs and perspectives of care providers and populations in relation to health and illness, literacy and health literacy, and their association with asthma among ethnocultural communities. CONCLUSIONS: There is an urgent need to better define the impact of cultural and ethnic issues in the management of asthma in Canada. Appropriately designed studies should better define the barriers in the optimal delivery of asthma care influenced by these parameters.

The prediction of adverse maternal outcomes in preeclampsia.

OBJECTIVES: (1) To evaluate whether clinical variables reflecting the multiorgan dysfunctions of preeclampsia can predict adverse maternal outcomes of preeclampsia; (2) to determine the usefulness of the mean platelet volume (MPV):platelet ratio as a novel measure of platelet consumption in predicting the severity of preeclampsia. METHOD: A retrospective chart review was conducted of cases of preeclampsia seen in 3 tertiary level units from January 2001 to December 2001. Candidate predictors of adverse maternal outcome were gestational age (GA) on admission to hospital, blood pressure, proteinuria, urine output, uric acid, creatinine, aspartate transaminase (AST), lactate dehydrogenase, bilirubin, albumin, fraction of inspired oxygen:oxygen saturation (FIO2:SaO2) ratio, platelet count, MPV, MPV:platelet ratio, fibrinogen, and seizures. The combined adverse maternal outcomes included maternal death; 1 or more of hepatic failure, hematoma, or rupture; Glasgow coma scale <13; stroke; 2 or more seizures; cortical blindness; positive inotrope support; myocardial infarction; infusion of any third antihypertensive; dialysis; renal transplantation; > or =50% FIO2 for >1 hour; intubation; or transfusion of > or =10 units of blood products. Descriptive, univariable, and multivariable analyses were performed, with significance set at P < .05. RESULTS: Of a total of 594 women with preeclampsia, 60 (10.1%) developed at least 1 element of the combined adverse outcome; 1 of these 60 women died. The most common outcomes were increased oxygen requirements, the use of a third infused antihypertensive, and transfusion >10 units. In women who developed an adverse outcome, GA and fibrinogen were lower, and total leukocyte count, creatinine, and AST were greater. Multivariable logistic regression revealed that admission GA (odds ratio [OR], 0.91), dipstick protein (OR, 1.31), and MPV:platelet ratio (OR, 391.0) independently predicted the outcome. CONCLUSIONS: Several promising markers were identified: admission GA, dipstick proteinuria, and the MPV:platelet ratio. MPV:platelet ratio also showed promise as a marker of platelet consumption. A prospective study is required to develop a clinical prediction model for preeclampsia.

Levels of antibodies against cytomegalovirus and Chlamydophila pneumoniae are increased in early onset pre-eclampsia.

OBJECTIVE: The origins of pre-eclampsia/eclampsia lie in a mismatch between feto-placental demands and utero-placental supply, a situation that also arises in normotensive intrauterine growth restriction (IUGR). Could reactivated chronic infection be both a trigger for these differential maternal responses to the same underlying pathology and a link between pre-eclampsia and its attendant lifelong risks of atherosclerosis? DESIGN: Nested case-control study. SETTING: Tertiary obstetric centre. POPULATION: Cases of pre-eclampsia, normotensive IUGR and controls. METHODS: A nested case-control study of serum from a population-based bank was performed. Seroprevalence and levels of anti-cytomegalovirus (CMV) and Chlamydophila pneumoniae immunoglobulin G (IgG) were compared (non-parametrically) between women with early onset pre-eclampsia (<34 weeks of gestation, n = 9), late onset pre-eclampsia (> or =34 + 0 weeks of gestation, n = 29), normotensive IUGR (birthweight less than third centile, n = 33) and matched normal pregnancy (n = 113, up to 2 per case). RESULTS: There was a significant difference in both anti-CMV and Chl. pneumoniae antibodies between groups (Kruskal-Wallis test, P < 0.05). Women with early onset pre-eclampsia had higher anti-CMV levels (median: 79, 95% confidence interval [95% CI] = 47, 164) than women with late onset pre-eclampsia (26 [95% CI = 22, 82], P < 0.05), normotensive IUGR (40 [95% CI = 31, 72], P < 0.05) and normal pregnancy (49 [95% CI = 45, 70], P < 0.05). Women with normotensive IUGR had significantly lower anti-Chl. pneumoniae antibodies (0.10 [95% CI = 0.08, 0.38]) than did normal pregnancy controls (0.21 [95% CI = 0.20, 0.28], P <0.05). CONCLUSIONS: The anti-CMV and anti-Chl. pneumoniae antibodies were higher in early onset pre-eclampsia than in late onset pre-eclampsia, normotensive IUGR and normal pregnancy. This may provide a pathophysiological link between pre-eclampsia and the known increased risk for subsequent atherosclerosis.