An international registry for primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course.The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic and diagnostic information, and visit forms designed to monitor the disease course.To establish a definite PCD diagnosis, we used strict diagnostic criteria, which required two to three diagnostic methods in addition to classical clinical symptoms. Preliminary analysis of lung function data demonstrated a mean annual decline of percentage predicted forced expiratory volume in 1 s of 0.59% (95% CI 0.98-0.22).Here, we present the development of an international PCD registry as a new promising tool to advance the understanding of this rare disorder, to recruit candidates for research studies and ultimately to improve PCD care.

Evaluation of Knowledge Regarding Diagnostic Strategies for Genetic Diseases in Select Residents

Genetics education for physicians has been a popular publication topic in the United States and in Europe for over 20 years. Decreasing numbers of medical genetics professionals and an increasing volume of genetic information has created a dire need for increased genetics training in medical school and in clinical practice. This study aimed to assess how well pediatrics-focused primary care physicians apply their general genetics knowledge to clinical genetic testing using scenario-based questions. We chose to specifically focus on knowledge of the diagnostic applicability of Chromosomal Microarray (CMA) technology in pediatrics because of its recent recommendation by the International Standard Cytogenomic Array (ISCA) Consortium as a first-tier genetic test for individuals with developmental disabilities and/or congenital anomalies. Proficiency in ordering baseline genetic testing was evaluated for eighty-one respondents from four pediatrics-focused residencies (categorical pediatrics, pediatric neurology, internal medicine/pediatrics, and family practice) at two large residency programs in Houston, Texas. Similar to other studies, we found an overall deficit of genetic testing knowledge, especially among family practice residents. Interestingly, residents who elected to complete a genetics rotation in medical school scored significantly better than expected, as well as better than residents who did not elect to complete a genetics rotation. We suspect that the insufficient knowledge among physicians regarding a baseline genetics work-up is leading to redundant (i.e. concurrent karyotype and CMA) and incorrect (i.e. ordering CMA to detect achondroplasia) genetic testing and is contributing to rising health care costs in the United States. Our results provide specific teaching points upon which medical schools can focus education about clinical genetic testing and suggest that increased collaboration between primary care physicians and genetics professionals could benefit patient health care overall.

Performance of HbA1c for classifying diabetes and diagnostic threshold for diabetes among the Mexican American border community

Objective. In 2009, the International Expert Committee recommended the use of HbA1c test for diagnosis of diabetes. Although it has been recommended for the diagnosis of diabetes, its precise test performance among Mexican Americans is uncertain. A strong “gold standard” would rely on repeated blood glucose measurement on different days, which is the recommended method for diagnosing diabetes in clinical practice. Our objective was to assess test performance of HbA1c in detecting diabetes and pre-diabetes against repeated fasting blood glucose measurement for the Mexican American population living in United States-Mexico border. Moreover, we wanted to find out a specific and precise threshold value of HbA1c for Diabetes Mellitus (DM) and pre-diabetes for this high-risk population which might assist in better diagnosis and better management of patient diabetes. ^ Research design and methods. We used CCHC dataset for our study. In 2004, the Cameron County Hispanic Cohort (CCHC), now numbering 2,574, was established drawn from randomly selected households on the basis of 2000 Census tract data. The CCHC study randomly selected a subset of people (aged 18-64 years) in CCHC cohort households to determine the influence of SES on diabetes and obesity. Among the participants in Cohort-2000, 67.15% are female; all are Hispanic. ^ Individuals were defined as having diabetes mellitus (Fasting plasma glucose [FPG] ≥ 126 mg/dL or pre-diabetes (100 ≤ FPG < 126 mg/dL). HbA1c test performance was evaluated using receiver operator characteristic (ROC) curves. Moreover, change-point models were used to determine HbA1c thresholds compatible with FPG thresholds for diabetes and pre-diabetes. ^ Results. When assessing Fasting Plasma Glucose (FPG) is used to detect diabetes, the sensitivity and specificity of HbA1c≥ 6.5% was 75% and 87% respectively (area under the curve 0.895). Additionally, when assessing FPG to detect pre-diabetes, the sensitivity and specificity of HbA1c≥ 6.0% (ADA recommended threshold) was 18% and 90% respectively. The sensitivity and specificity of HbA1c≥ 5.7% (International Expert Committee recommended threshold) for detecting pre-diabetes was 31% and 78% respectively. ROC analyses suggest HbA1c as a sound predictor of diabetes mellitus (area under the curve 0.895) but a poorer predictor for pre-diabetes (area under the curve 0.632). ^ Conclusions. Our data support the current recommendations for use of HbA1c in the diagnosis of diabetes for the Mexican American population as it has shown reasonable sensitivity, specificity and accuracy against repeated FPG measures. However, use of HbA1c may be premature for detecting pre-diabetes in this specific population because of the poor sensitivity with FPG. It might be the case that HbA1c is differentiating the cases more effectively who are at risk of developing diabetes. Following these pre-diabetic individuals for a longer-term for the detection of incident diabetes may lead to more confirmatory result.^

Spaces of the Past, Histories of the Present: An Interview with Stuart Elden and Derek Gregory

The ontologies of space and territory, our experience of them and the techniques we use to govern them, the very conception of the socio-spatial formations that we inhabit, are all historically specific: they depend on a genealogy of practices, knowledges, discourses, regulations, performances and representations articulated in a way that is extremely complex yet nevertheless legible over time. In this interview we look at the logic and the patterns that intertwine space and time — both as objects and tools of inquiry — though a cross-disciplinary dialogue. The discussion with Stuart Elden and Derek Gregory covers the place of history in socio-spatial theory and in their own work, old and new ways of thinking about the intersection between history and territory, space and time, the implications of geography and history for thinking about contemporary politics, and the challenges now faced by critical thought and academic work in the current neo-liberal attack on public universities and the welfare state

Exploring the Experiences of International Student-Athletes

According to the latest National Collegiate Athletic Association (NCAA) Student Athlete Ethnicity Report, there are 17,653 non-US citizen student-athletes competing in various sports in universities across the country, yet there is very little research to understand their experiences (NCAA, 2010). Previous research has focused on recruitment practices (Bale, 1991; Pierce, Popp, & Meadows, 2011), satisfaction (Trendafilova, Kim, & Hardin, 2010), and adjustment and transitional factors (Pierce, Popp, & Meadows, 2011; Popp, Love, Kim, & Hums, 2010; Ridinger & Pastore, 2000), with a void in examining their overall experiences. Therefore, purpose of this qualitative study was to explore the experiences of international student-athletes in the United States within their athletic department and universities, as well as in the country. Participants were solicited by email, and ultimately six (n = 6) international student-athletes from a Division-I university chose to participate in the study and represented two different countries of origin, Canada and Norway. Participants completed a semi-structured interview, consisting of one broad open-ended question followed by a series of specific follow-up questions. Content analysis revealed that most participants did not consider their experiences different than domestic student-athletes. Challenges shared by most athletes included language barriers, balancing their time, and homesickness. Results also revealed the importance of interpersonal connections, especially with coaches and athletes from the international student-athlete's home country, in ensuring a positive overall experience. Implications of this study are that individuals and professionals working in campus offices associated with international student-athletes should be mindful of their unique roles within the university in order to foster positive experiences and retention.

Evolution of tropical forestry : Puerto Rico and beyond : an interview with Frank H. Wadsworth /

"FS-610."

Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities

Latent class and genetic analyses were used to identify subgroups of migraine sufferers in a community sample of 6,265 Australian twins (55% female) aged 25-36 who had completed an interview based on International Headache Society UHS) criteria. Consistent with prevalence rates from other population-based studies, 703 (20%) female and 250 (9%) male twins satisfied the IHS criteria for migraine without aura (MO), and of these, 432 (13%) female and 166 (6%) male twins satisfied the criteria for migraine with aura (MA) as indicated by visual symptoms. Latent class analysis (LCA) of IHS symptoms identified three major symptomatic classes, representing 1) a mild form of recurrent nonmigrainous headache, 2) a moderately severe form of migraine, typically without visual aura symptoms (although 40% of individuals in this class were positive for aura), and 3) a severe form of migraine typically with visual aura symptoms (although 24% of individuals were negative for aura). Using the LCA classification, many more individuals were considered affected to some degree than when using IHS criteria (35% vs. 13%). Furthermore, genetic model fitting indicated a greater genetic contribution to migraine using the LCA classification (heritability, h(2) =0.40; 95% CI, 0.29-0.46) compared with the IHS classification (h(2)=0.36; 95% CI, 0.22-0.42). Exploratory latent class modeling, fitting up to 10 classes, did not identify classes corresponding to either the IHS MO or MA classification. Our data indicate the existence of a continuum of severity, with MA more severe but not etiologically distinct from MO. In searching for predisposing genes, we should therefore expect to find some genes that may underlie all major recurrent headache subtypes, with modifying genetic or environmental factors that may lead to differential expression of the liability for migraine. (C) 2004 Wiley-Liss, Inc.

Validation of assembled nucleic acid-based tests in diagnostic microbiology laboratories

Medical microbiology and virology laboratories use nucleic acid tests (NAT) to detect genomic material of infectious organisms in clinical samples. Laboratories choose to perform assembled (or in-house) NAT if commercial assays are not available or if assembled NAT are more economical or accurate. One reason commercial assays are more expensive is because extensive validation is necessary before the kit is marketed, as manufacturers must accept liability for the performance of their assays, assuming their instructions are followed. On the other hand, it is a particular laboratory's responsibility to validate an assembled NAT prior to using it for testing and reporting results on human samples. There are few published guidelines for the validation of assembled NAT. One procedure that laboratories can use to establish a validation process for an assay is detailed in this document. Before validating a method, laboratories must optimise it and then document the protocol. All instruments must be calibrated and maintained throughout the testing process. The validation process involves a series of steps including: (i) testing of dilution series of positive samples to determine the limits of detection of the assay and their linearity over concentrations to be measured in quantitative NAT; (ii) establishing the day-to-day variation of the assay's performance; (iii) evaluating the sensitivity and specificity of the assay as far as practicable, along with the extent of cross-reactivity with other genomic material; and (iv) assuring the quality of assembled assays using quality control procedures that monitor the performance of reagent batches before introducing new lots of reagent for testing.

The empirical basis of substance use disorders diagnosis: research recommendations for the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V)

Aims This paper presents the recommendations, developed from a 3-year consultation process, for a program of research to underpin the development of diagnostic concepts and criteria in the Substance Use Disorders section of the Diagnostic and Statistical Manual of Mental Disorders (DSM) and potentially the relevant section of the next revision of the International Classification of Diseases (ICD). Methods A preliminary list of research topics was developed at the DSM-V Launch Conference in 2004. This led to the presentation of articles on these topics at a specific Substance Use Disorders Conference in February 2005, at the end of which a preliminary list of research questions was developed. This was further refined through an iterative process involving conference participants over the following year. Results Research questions have been placed into four categories: (1) questions that could be addressed immediately through secondary analyses of existing data sets; (2) items likely to require position papers to propose criteria or more focused questions with a view to subsequent analyses of existing data sets; (3) issues that could be proposed for literature reviews, but with a lower probability that these might progress to a data analytic phase; and (4) suggestions or comments that might not require immediate action, but that could be considered by the DSM-V and ICD 11 revision committees as part of their deliberations. Conclusions A broadly based research agenda for the development of diagnostic concepts and criteria for substance use disorders is presented.

The development of a research agenda for substance use disorders diagnosis in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V)

Aims paper describes the background to the establishment of the Substance Use Disorders Workgroup, which was charged with developing the research agenda for the development of the next edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM). It summarizes 18 articles that were commissioned to inform that process. Methods A preliminary list of research topics, developed at the DSM-V Launch Conference in 2004, led to the identification of subjects that were subject to formal presentations and detailed discussion at the Substance Use Disorders Conference in February 2005. Results The 18 articles presented in this supplement examine: (1) categorical versus dimensional diagnoses; (2) the neurobiological basis of substance use disorders; (3) social and cultural perspectives; (4) the crosswalk between DSM-IV and the International Classification of Diseases Tenth Revision (ICD-10); (5) comorbidity of substance use disorders and mental health disorders; (6) subtypes of disorders; (7) issues in adolescence; (8) substance-specific criteria; (9) the place of non-substance addictive disorders; and (10) the available research resources. Conclusions In the final paper a broadly based research agenda for the development of diagnostic concepts and criteria for substance use disorders is presented.

Epidemiology of recreational exposure to freshwater cyanobacteria - an international prospective cohort study

Background: Case studies and anecdotal reports have documented a range of acute illnesses associated with exposure to cyanobacteria and their toxins in recreational waters. The epidemiological data to date are limited; we sought to improve on the design of some previously conducted studies in order to facilitate revision and refinement of guidelines for exposure to cyanobacteria in recreational waters. Methods: A prospective cohort study was conducted to investigate the incidence of acute symptoms in individuals exposed, through recreational activities, to low ( cell surface area < 2.4 mm(2)/mL), medium ( 2.4 - 12.0 mm(2)/mL) and high (> 12.0 mm(2)/mL) levels of cyanobacteria in lakes and rivers in southeast Queensland, the central coast area of New South Wales, and northeast and central Florida. Multivariable logistic regression analyses were employed; models adjusted for region, age, smoking, prior history of asthma, hay fever or skin disease ( eczema or dermatitis) and clustering by household. Results: Of individuals approached, 3,595 met the eligibility criteria, 3,193 (89%) agreed to participate and 1,331 (37%) completed both the questionnaire and follow-up interview. Respiratory symptoms were 2.1 (95% CI: 1.1 - 4.0) times more likely to be reported by subjects exposed to high levels of cyanobacteria than by those exposed to low levels. Similarly, when grouping all reported symptoms, individuals exposed to high levels of cyanobacteria were 1.7 ( 95% CI: 1.0 - 2.8) times more likely to report symptoms than their low-level cyanobacteria-exposed counterparts. Conclusion: A significant increase in reporting of minor self-limiting symptoms, particularly respiratory symptoms, was associated with exposure to higher levels of cyanobacteria of mixed genera. We suggest that exposure to cyanobacteria based on total cell surface area above 12 mm(2)/mL could result in increased incidence of symptoms. The potential for severe, life-threatening cyanobacteria-related illness is likely to be greater in recreational waters that have significant levels of cyanobacterial toxins, so future epidemiological investigations should be directed towards recreational exposure to cyanotoxins.

Effect of sequence variation in Plasmodium falciparum Histidine-Rich protein 2 on binding of specific monoclonal antibodies: Implications for rapid diagnostic tests for malaria

This Article Right arrow Full Text Right arrow Full Text (PDF) Right arrow Supplemental material Right arrow Alert me when this article is cited Right arrow Alert me if a correction is posted Services Right arrow Similar articles in this journal Right arrow Similar articles in PubMed Right arrow Alert me to new issues of the journal Right arrow Download to citation manager Right arrow Reprints and Permissions Right arrow Copyright Information Right arrow Books from ASM Press Right arrow MicrobeWorld Citing Articles Right arrow Citing Articles via HighWire Right arrow Citing Articles via Google Scholar Google Scholar Right arrow Articles by Lee, N. Right arrow Articles by McCarthy, J. Right arrow Search for Related Content PubMed Right arrow PubMed Citation Right arrow Articles by Lee, N. Right arrow Articles by McCarthy, J. Right arrow Pubmed/NCBI databases * Substance via MeSH Previous Article | Next Article Journal of Clinical Microbiology, August 2006, p. 2773-2778, Vol. 44, No. 8 0095-1137/06/$08.00+0 doi:10.1128/JCM.02557-05 Copyright © 2006, American Society for Microbiology. All Rights Reserved. Effect of Sequence Variation in Plasmodium falciparum Histidine- Rich Protein 2 on Binding of Specific Monoclonal Antibodies: Implications for Rapid Diagnostic Tests for Malaria{dagger} Nelson Lee,1,2 Joanne Baker,2 Kathy T. Andrews,1 Michelle L. Gatton,1,3 David Bell,4 Qin Cheng,2,3 and James McCarthy1* Australian Centre for International and Tropical Health and Nutrition, Queensland Institute of Medical Research and School of Population Health, University of Queensland, Queensland, Australia,1 Department of Drug Resistance and Diagnostics, Australian Army Malaria Institute, Brisbane, Australia,2 Malaria Drug Resistance and Chemotherapy, Queensland Institute of Medical Research, Queensland, Australia,3 World Health Organization, Regional Office for the Western Pacific, Manila, Philippines4 Received 8 December 2005/ Returned for modification 23 February 2006/ Accepted 26 May 2006 The ability to accurately diagnose malaria infections, particularly in settings where laboratory facilities are not well developed, is of key importance in the control of this disease. Rapid diagnostic tests (RDTs) offer great potential to address this need. Reports of significant variation in the field performance of RDTs based on the detection of Plasmodium falciparum histidine-rich protein 2 (HRP2) (PfHRP2) and of significant sequence polymorphism in PfHRP2 led us to evaluate the binding of four HRP2-specific monoclonal antibodies (MABs) to parasite proteins from geographically distinct P. falciparum isolates, define the epitopes recognized by these MABs, and relate the copy number of the epitopes to MAB reactivity. We observed a significant difference in the reactivity of the same MAB to different isolates and between different MABs tested with single isolates. When the target epitopes of three of the MABs were determined and mapped onto the peptide sequences of the field isolates, significant variability in the frequency of these epitopes was observed. These findings support the role of sequence variation as an explanation for variations in the performance of HRP2-based RDTs and point toward possible approaches to improve their diagnostic sensitivities