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Unique Population (unique + population)
Selected AbstractsThe clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based studyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2010CHRISTOPHER M VERITY Aim, Our aim was to study the clinical presentation, mode of diagnosis, and epidemiology of mitochondrial disorders in children from the UK who have progressive intellectual and neurological deterioration (PIND). Method, Since April 1997, we have identified patients aged 16 years or younger with suspected PIND through the monthly notification card sent to all UK consultant paediatricians by the British Paediatric Surveillance Unit. Clinical details obtained from reporting paediatricians are classified by an Expert Group. Results, By July 2008, 2493 cases of PIND had been reported, among which there were 112 children (69 males, 43 females) with mitochondrial diseases presenting between birth and 14 years 7 months (median 12mo), divided into 13 subgroups. In some instances, clinical features were characteristic of mitochondrial disease, but many children presented non-specifically with combinations of developmental delay, hypotonia, failure to thrive, and seizures; 16 children had multisystem disease at presentation. Mortality was high: 40 children had died. Blood and/or cerebrospinal fluid lactate measurements were abnormal in 87 children, and 47 of 78 brain magnetic resonance images showed increased basal ganglia signal. Definite diagnoses were usually made by muscle enzyme or genetic studies. Interpretation, This is a unique population-based study of the mitochondrial disorders that cause childhood neurodegenerative disease. It provides detailed information about the clinical presentation and investigation of these complex cases. [source] Clinical and Electrographic Features of Epileptic Spasms Persisting Beyond the Second Year of LifeEPILEPSIA, Issue 6 2002Márcio A. Sotero De Menezes Summary: ,Purpose: Few reports detailing the electroclinical features of epileptic spasms persisting beyond infancy have been published. We sought to characterize this unique population further. Methods: We retrospectively reviewed the clinical and video-EEG data on 26 patients (4,17 years; mean, 93 months) with a confirmed diagnosis of epileptic spasms and who were evaluated at our tertiary referral center between 1993 and 2000. Results: In half of our cases, epileptic spasms were associated with disorders of neuronal migration, severe perinatal asphyxia, and genetic anomalies. Interictal EEGs showed generalized slowing in the majority of patients, and a slow-wave transient followed by an attenuation of the background amplitude was the most common ictal EEG pattern associated with an epileptic spasm (19 cases). Other seizure types (number of cases in parentheses) included tonic seizures with or without a preceding spasm (13), partial seizures (11), myoclonic seizures (11), generalized tonic,clonic seizures (six), atypical absence seizures (two), and atonic seizures (one). Cases with a more organized EEG background (especially with frequencies ,7 Hz) were more likely to have better cognition. Continued disorganization of the EEG background and persistence of hypsarrhythmia were associated with poor developmental outcome. Conclusions: Patients with epileptic spasms persisting beyond age 2 years constitute a truly refractory population, one that should be better recognized by clinicians. Interestingly, although many therapies resulted in a >50% reduction in seizures, neither neurocognitive function nor quality of life was substantially improved with intervention. The interictal EEG background is the most helpful in predicting neurologic outcome. [source] Aging-dependent generation of suppressive CD4+CD25,R123loCD103+ T,cells in miceEUROPEAN JOURNAL OF IMMUNOLOGY, Issue 9 2003Jun Shimizu Abstract Advancing age is associated with significant alterations in immune functions, including a decline in CD4 T,cell function, in both mice and humans. In our previous report, we showed that CD4+CD25, T,cells in aged (24-month-old) mice, especially after in vitro pre-stimulation of these cells, exhibit hyporesponsive and suppressive properties. We examined here whether the suppressive activity of aged CD4+CD25, T,cells is ascribable to a particular population within these cells. In vitro analyses revealed that cell populations rapidly extruding Rhodamine-123 (R123) (referred to as R123lo cells) in aged CD4+CD25, T,cells have a more potent suppressive function compared with R123hi populations. In addition, CD103+ cells in freshly prepared aged CD4+CD25,R123lo T,cells had a most potent suppressive activity. Both R123hi and R123lo populations had individually stronger suppressive activity after pre-stimulation than before pre-stimulation. Furthermore, the R123lo population in young CD4+CD25, T,cells also had different properties from R123hi T cells: low responsiveness, no additive effect in proliferation assays, and the gain of a suppressive function after in vitro pre-stimulation. Takentogether, these results suggest that CD4+CD25,R123lo T,cells are a unique population within whole CD4+CD25, T,cells. This population exists in the earlystage of the life span, and the properties in this population become obvious with aging, that is the gain of their suppressive activity. [source] Age-dependent variation in the proportion and number of intestinal lymphocyte subsets, especially natural killer T cells, double-positive CD4+ CD8+ cells and B220+ T cells, in miceIMMUNOLOGY, Issue 3 2004Yuiko Ishimoto Summary The age-dependent variation in the proportion and number of lymphocyte subsets was examined at various extrathymic sites, including the liver, small intestine, colon and appendix in mice. In comparison with young mice (4 weeks of age), the number of total lymphocytes yielded by all tested organs was greater in adult (9 weeks) and old (40 weeks) mice. The major lymphocyte subset that expanded with age was interleukin-2 receptor (IL-2R) ,+ CD3int cells (50% of them expressed NK1.1) in the liver, whereas it was CD3+ IL-2R,, NK1.1, cells at all intraepithelial sites in the intestine. Although NK1.1+ CD3+ cells were present at intraepithelial sites in the intestine, the proportion of this subset was rather low. The ratio of CD4 to CD8 tended to decrease among natural killer T (NKT) cells and T cells at all intraepithelial sites in the intestine with age. A unique population of double-positive CD4+ CD8+ cells in the small intestine increased in old mice. B220+ T cells were found mainly in the appendix and colon, and the proportion of these T cells decreased in old mice. Conventional NKT cells were very few in J,281,/, and CD1d,/, mice in the liver, while NKT cells which existed in the appendix remained unchanged even in these mice. This was because unconventional CD8+ NKT cells were present in the intestine. The present results suggest that despite the fact that both the liver and intraepithelial sites in the intestine carry many extrathymic T cells, the distribution of lymphocyte subsets and their age-associated variation are site-specific. [source] Presentations and management of Post Traumatic Stress Disorder and the elderly: a need for investigationINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 5 2004Walter Busuttil Abstract Background With an aging population increasing presentations of cases of Post Traumatic Stress Disorder (PTSD) can be expected to old age services. While progress has been made in recent years in relation to the understanding and development of aetiological theories, classification, assessment and management strategies and protocols in the adult population, similar advances have lagged behind for the elderly. Aims To review the adult literature regarding PTSD and discuss how this might apply to an elderly population. An attempt is made to highlight a better awareness of the field of psychological trauma in the elderly in the hope of stimulating debate and research. Method A review of the adult literature is conducted relating to classification, aetiology, demographic features, vulnerability, assessment, clinical management including psychotherapy and medications and how these may apply to the elderly. Results Little has been published in this field that directly relates to the elderly. The adult literature allows insight into understanding how PTSD may present in the elderly, and how they may be managed. Conclusions Further specific research is needed in the elderly in order to facilitate a better understanding of PTSD that present in this unique population. This will lead to better clinical assessment, management and treatment provision. Copyright © 2004 John Wiley & Sons, Ltd. [source] WTC medical monitoring and treatment program: Comprehensive health care response in aftermath of disasterMOUNT SINAI JOURNAL OF MEDICINE: A JOURNAL OF PERSONALIZED AND TRANSLATIONAL MEDICINE, Issue 2 2008Jacqueline M. Moline MD Abstract The attack on the World Trade Center (WTC) on September 11th, 2001 exposed thousands of individuals to an unprecedented mix of chemicals, combustion products and micronized building materials. Clinicians at the Mount Sinai Irving Selikoff Center for Occupational and Environmental Medicine, in partnership with affected stakeholder organizations, developed a medical screening program to evaluate the health status of workers and volunteers who spent time at the WTC site and thus sustained exposure in the aftermath of September 11th. Standardized questionnaires were adapted for use in this unique population and all clinicians underwent training to ensure comparability. The WTC Worker and Volunteer Medical Screening Program (MSP) received federal funding in April 2002 and examinations began in July 2002. The MSP and the follow up medical monitoring program has successfully recruited nearly 22,000 responders, and serves as a model for the rapid development of a medical screening program to assess the health of populations exposed to environmental hazards as a result of natural and man-made disasters. The MSP constitutes a successful screening program for WTC responders. We discuss the challenges that confronted the program; the absence of a prior model for the rapid development of a program to evaluate results from mixed chemical exposures; little documentation of the size of the exposed population or of who might have been exposed; and uncertainty about both the nature and potential severity of immediate and long-term health effects. Mt Sinai J Med 75:67,75, 2008© 2008 Mount Sinai School of Medicine [source] Evaluation and management of pulmonary disease in ataxia-telangiectasiaPEDIATRIC PULMONOLOGY, Issue 9 2010Sharon A. McGrath-Morrow MD Abstract Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined. Pediatr. Pulmonol. 2010; 45:847,859. © 2010 Wiley-Liss, Inc. [source] Best practices in the identification of gifted students with learning disabilitiesPSYCHOLOGY IN THE SCHOOLS, Issue 5 2001D. Betsy McCoach In recent years, researchers and practitioners have become increasingly interested in students who have both learning disabilities and intellectual gifts. Intellectually gifted students are defined as those who demonstrate outstanding ability to grapple with complexity, or superior academic potential. The definition of learning disability states that the level of performance in a particular academic area is substantially below what would be expected based on one's general intellectual ability and that this incongruity cannot be explained by lack of educational opportunity in that academic area. This article explores several controversial issues surrounding the identification of students as both gifted and learning disabled. How does a discrepancy manifest itself in a student who is intellectually gifted? Do gifted students with learning disabilities experience masking effects? How can we effectively identify intellectually gifted students with learning disabilities? In addition, we argue against the use of profile analysis to identify gifted students with learning disabilities. Finally, we propose guidelines for school psychologists to identify students with intellectual gifts and learning disabilities, and we provide suggestions for how to best serve this unique population of students within the school environment. © 2001 John Wiley & Sons, Inc. [source] ORIGINAL ARTICLE: The Combination of the Gastrointestinal Integrin (,4,7) and Selectin Ligand Enhances T-Cell Migration to the Reproductive Tract During Infection with Chlamydia trachomatisAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 6 2009Kathleen A. Kelly Problem,Chlamydia trachomatis causes sexually transmitted infection and reproductive dysfunction worldwide. Identifying a population of endocervical T-cells to target in vaccine development is likely to enhance efficacy of a vaccine and reduce reproductive tract dysfunction. Method of study, Endocervical samples were obtained from young women and flow cytometric analysis was used to identify lymphocytes that appeared in the genital tract in response to sexually transmitted bacterial infections caused by C. trachomatis. Results, Increased numbers of ,4,7+CLA+ memory T-cells, a unique T-cell phenotype, were found in the endocervix of human female subjects infected with C. trachomatis. Conclusion A unique population of memory T lymphocytes expressing both ,4,7 and CLA gain access to reproductive tract tissues during a sexually transmitted infection with C. trachomatis and should be considered in development of vaccines against sexually transmitted infections. [source] 1140915445 Increased numbers of FoxP3+ cells in vaginal mucus from normal pregnant mice suggest early antigen-specific tolerance mechanism during pregnancyAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 6 2006C Thuere The fetal survival within the maternal uterus is thought to be due to a transient immunological tolerance, being CD4+CD25+ T regulatory cells (Tregs) crucial players. Former studies confirmed diminished total numbers of this unique population in abortion-prone mice (DBA/2J-mated CBA/J females) as compared to a control with normal pregnancy outcome (BALB/c-mated CBA/J females) and suggested that Tregs act in an antigen-specific fashion. This hypothesis led us to investigate the kinetics of Tregs during pregnancy (day 0, 2, 5, 8, 10 or 12 of pregnancy) in abortion-prone mice and the control group. Our data confirmed diminished number of Tregs in immunological relevant organs such as lymph nodes and thymus within the abortion-prone mice. The enormous augmentation in the number of FoxP3+ cells in vaginal mucus already on day 0.5 after conception, followed by increased Tregs levels at early pregnancy stages, suggest, that Tregs need to be activated by male antigens for being protective. Notably, the abortion-prone mice displayed again a lower total amount of Tregs as compared to the control. Similar progesterone levels in spite of different pregnancy outcome reinforce the theory of antigen specificity of pregnancy-induced Tregs. The antigen presentation would take place in the periphery e.g. in vaginal mucus, the first site of contact with paternal antigens, directly after insemination. Interestingly the transfer of Tregs from normal pregnant mice at this time point prevented fetal rejection. Our results suggest the crucial role of Tregs already shortly after conception. [source] Differential distribution of haematopoietic and nonhaematopoietic progenitor cells in intralesional and extralesional keloid: do keloid scars provide a niche for nonhaematopoietic mesenchymal stem cells?BRITISH JOURNAL OF DERMATOLOGY, Issue 6 2010S.A. Iqbal Summary Background, Keloid disease is a benign, quasineoplastic disease with a high recurrence rate. Mesenchymal-like stem cells (MLSC) have previously been demonstrated in keloid scars and may be involved in keloid pathobiology. However, as these cells have only been examined by single colour fluorescence activated cell sorting (FACS) alone, they need to be more comprehensively characterized so that the key cellular contributors to keloid scars can be better understood. Objectives, To identify and characterize MLSC in intralesional and extralesional keloid, and to distinguish haematopoietic stem cells (HSC) from mesenchymal stem cells (MSC). Methods and patients, Punch biopsies from intralesional (top, middle and margin) and extralesional keloid scar sites were obtained from 17 patients with a keloid. Multicolour FACS analysis using antibodies specific for HSC markers CD34 and CD117 and MSC markers CD13, CD29, CD44 and CD90 was performed on freshly isolated keloid scar cells and on passage 0 and 1 cells. This was complemented by real-time quantitative polymerase chain reaction (PCR) and immunohistological in situ analyses. Results, Keloid scars contain distinct subpopulations of MLSCs. Cells positive for CD13, CD29, CD44 and CD90 were found to be significantly (P < 0·05) higher in the top and middle compartments of keloid scars compared with extralesional skin, where cells positive for CD34, CD90 and CD117 (representing HSCs) predominated. A unique population of CD34+ cells (cells positive for CD13, CD29, CD34, CD44 and CD90) were found in keloid scars and in extralesional skin. FACS and quantitative PCR analysis showed that many of the MSC markers were progressively downregulated and all HSC markers were lost during extended keloid fibroblast culture up to passage 1. Conclusion, We have found distinct subpopulations of haematopoietic and nonhaematopoietic MSC in keloid scars, whereby HSC accumulate extralesionally, while keloids seem to provide a niche environment for nonhaematopoietic MSC. Future therapy of keloids may have to target differentially both stem cell populations in order to deprive these tumours of their regenerative cell pools. [source] Public Health Considerations in Knowledge Translation in the Emergency DepartmentACADEMIC EMERGENCY MEDICINE, Issue 11 2007Steven L. Bernstein MD Effective preventive and screening interventions have not been widely adopted in emergency departments (EDs). Barriers to knowledge translation of these initiatives include lack of knowledge of current evidence, perceived lack of efficacy, and resource availability. To address this challenge, the Academic Emergency Medicine 2007 Consensus Conference, "Knowledge Translation in Emergency Medicine: Establishing a Research Agenda and Guide Map for Evidence Uptake," convened a public health focus group. The question this group addressed was "What are the unique contextual elements that need to be addressed to bring proven preventive and other public health initiatives into the ED setting?" Public health experts communicated via the Internet beforehand and at a breakout session during the conference to reach consensus on this topic, using published evidence and expert opinion. Recommendations include 1) to integrate proven public health interventions into the emergency medicine core curriculum, 2) to configure clinical information systems to facilitate public health interventions, and 3) to use ancillary ED personnel to enhance delivery of public health interventions and to obtain successful funding for these initiatives. Because additional research in this area is needed, a research agenda for this important topic was also developed. The ED provides medical care to a unique population, many with increased needs for preventive care. Because these individuals may have limited access to screening and preventive interventions, wider adoption of these initiatives may improve the health of this vulnerable population. [source] "It's a Balancing Act!": Exploring School/Work/Family Interface Issues Among Bilingual, Rural Nebraska, Paraprofessional EducatorsFAMILY RELATIONS, Issue 3 2006Rochelle L. Dalla Abstract: Nebraska's rural school districts have a rapidly growing Spanish-speaking student body and few qualified instructors to meet their educational needs. This investigation examined factors that promote and challenge the ability of rural Nebraska paraprofessional educators to complete an online B.S. program in elementary education, with a K-12 English as a second language endorsement. Interviews focused on the interface between school, work, and family, with special attention on family system change and adaptation. Twenty-six bilingual paraprofessional educators enrolled (or formerly enrolled) in the education program were interviewed. Twenty were first- (n= 15) or second-generation (n= 5) immigrant Latino/as. Influences of program involvement on the marital and parent-child relationships are discussed, as are implications for future work with unique populations. [source] Comorbidity of Alcohol Abuse and Dependence with Medical Conditions in 2 American Indian Reservation CommunitiesALCOHOLISM, Issue 4 2006Jay H. Shore Background: The objective was to examine the association of self-reported Diagnostic and Statistical Manual,IV edition alcohol abuse and dependence with medical conditions among American Indians (AIs). Methods: We analyzed data previously collected in a large epidemiological study of members of 2 culturally distinct AI tribes from the Southwest (SW; n=1,446) and the Northern Plains (NP; n=1,638) living on or near their reservations. Associations of combined self-reported alcohol abuse and alcohol dependence with 19 medical conditions were examined through multinomial logistic regression. Results: Medical conditions that had significant relationships with alcohol abuse/dependence were sprains and strains [odds ratio (OR) 2.04, p<0.001], hearing and vision problems (OR 2.05, p<0.001), kidney and bladder problems (OR 1.55, p<0.01), head injuries (OR 2.20, p<0.001), pneumonia/tuberculosis (OR 1.49, p<0.01), dental problems (OR 1.89, p<0.001), and liver problems/pancreatitis (OR 2.18, p<0.001). The total count of medical conditions was also significantly related to alcohol abuse/dependence, with a higher count being associated with the outcome (OR 1.17, p<0.001). Conclusions: In this community-based study of rural AIs, diverse medical conditions were associated with alcohol abuse and dependence. Further research should examine, and confirm, the nature, extent, and tribal variation of the medical consequences of alcohol abuse and dependence in these unique populations. [source] Genetic identification of source populations for an aquarium-traded invertebrateANIMAL CONSERVATION, Issue 1 2009D. A. Weese Abstract Increasingly, wildlife managers are turning to molecular genetics to aid in conservation efforts. While such approaches have been applied to large terrestrial and aquatic vertebrate species, their application to other traded organisms has not been extensively explored. Here, we examined the utility of these techniques for identifying source populations of aquarium ornamental invertebrates, using members of the Hawaiian atyid genus Halocaridina as a study system. These shrimps, restricted to anchialine habitats of the Hawaiian Islands, are popular in the aquarium trade due to their ability to survive in hermetically sealed containers for extended periods of time. However, commercial harvesting, coupled with habitat destruction and strong regional endemism, could lead to the depletion/extinction of unique populations. Because the land district of Kona, along the west coast of the island of Hawai'i, has the state's highest concentration of anchialine habitats, we hypothesized that commercially available Halocaridina originated from this region. To test this, mitochondrial cytochrome c oxidase subunit I gene sequences from 96 individuals, obtained from six vendors, were compared with 580 homologous sequences from previous studies covering the known distribution range of Halocaridina. Recovery of identical, regional-specific haplotypes, network analyses and statistical assignment tests identified these commercially acquired specimens as belonging to either the Kona, Ka',, (western and southern coasts, respectively, island of Hawai'i) or Kina'u (southern coast, island of Maui) genetic groups of these shrimps. Although 39 of the 96 individuals originated from the Kona genetic group as hypothesized, our finding that commercially available Halocaridina are from three genetic groups spanning two islands suggests that other populations also warrant potential management consideration. While this study represents the first application of molecular genetics in identifying source populations of aquarium ornamental species, we feel that these techniques are amenable more broadly as they are dependent on only a few caveats. [source] | |||||||||||||||||||||||||