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Selected AbstractsVulnerable young people and substance misuse: expanding on the risk and protection-focused approach using social psychologyCHILD ABUSE REVIEW, Issue 4 2009Victoria Scaife Abstract This paper critically reviews recent research exploring risk and protective factors for the development of problematic substance use in populations of young people. Specific populations of young people who are most vulnerable to developing problematic patterns of use are identified, and alterations to methods of data collection which would improve the ability of local authorities to monitor these populations and more efficiently target them for early preventative interventions are highlighted. It is argued that social-psychological research techniques and approaches should be used to complement a risk and protection-focused approach in order to improve the design and evaluation of interventions, and provide decision-aids for practitioners when assessing the needs of vulnerable young people. Examples are provided to demonstrate the utility of social psychology in this regard, and the paper concludes with specific recommendations for future research and services. Copyright © 2009 John Wiley & Sons, Ltd. [source] Neuropeptide Y in the olfactory microvillar cellsEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 1 2006Giorgia Montani Abstract This paper examines a possible role of microvillar cells in coordinating cell death and regeneration of olfactory epithelial neurons. The olfactory neuroepithelium of mammals is a highly dynamic organ. Olfactory neurons periodically degenerate by apoptosis and as a consequence of chemical or physical damage. To compensate for this loss of cells, the olfactory epithelium maintains a lifelong ability to regenerate from a pool of resident multipotent stem cells. To assure functional continuity and histological integrity of the olfactory epithelium over a period of many decades, apoptosis and regeneration require to be precisely coordinated. Among the factors that have been implicated in mediating this regulation is the neuropeptide Y (NPY). Knockout mice that lack functional expression of this neurogenic peptide show defects in embryonic development of the olfactory epithelium and in its ability to regenerate in the adult. Here we show that, in postnatal olfactory epithelia, NPY is exclusively expressed by a specific population of microvillar cells. We previously characterized these cells as a novel type of putative chemosensory cells, which are provided with a phosphatidyl-inositol-mediated signal transduction cascade. Our findings allow for the first time to suggest that microvillar cells are involved in connecting apoptosis to neuronal regeneration by stimulus-induced release of NPY. [source] Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutationsGENES, CHROMOSOMES AND CANCER, Issue 9 2006Simona Agata The presence of genomic rearrangements of the BRCA1 gene in breast and/or ovarian cancer families has been intensively investigated in patients from various countries over the last years. A number of different rearrangements have been reported by several studies that clearly document the involvement of this mutation type in genetic predisposition to breast and ovarian cancer. Population-specific studies are now needed to evaluate the prevalence of genomic rearrangements before deciding whether to include ad hoc screening procedures into standard diagnostic mutation detection approaches. Indeed, the vast majority of the studies have been performed on small, highly selected, sample sets because of the limitations imposed by the laborious technical approaches. Moreover, prevalence figures are likely to differ across different countries according to the ethnic origin of each specific population. Here we analyze a large cohort of 653 Italian probands, negative for BRCA1 and BRCA2 point mutations, gathered from four National Institutions. We report the identification of BRCA1 genomic rearrangements in 12 independent families. Noteworthy, half of the probands carry mutations that recur in more than one Italian family. Considering the whole spectrum of Italian BRCA1 gene rearrangements identified thus far in consecutive patients, we estimate that alterations of this type account for 19% (95% CI: 0.11 < 0.19 < 0.28) of the BRCA1 mutation positive families. We conclude that the search for major genomic rearrangements is essential for an accurate and comprehensive BRCA1 mutation detection strategy in Italy. © 2006 Wiley-Liss, Inc. [source] Evaluation of the Video Intubation Unit in morbid obese patientsACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 1 2010I. BATHORY Background: Tracheal intubation may be more difficult in morbidly obese (MO) patients than in the non-obese. The aim of this study was to evaluate clinically if the use of the Video Intubation Unit (VIU), a video-optical intubation stylet, could improve the laryngoscopic view compared with the standard Macintosh laryngoscope in this specific population. Methods: We studied 40 MO patients (body mass index >35 kg/m2) scheduled for bariatric surgery. Each patient had a conventional laryngoscopy and a VIU inspection. The laryngoscopic grades (LG) using the Cormack and Lehane scoring system were noted and compared. Thereafter, the patients were randomised to be intubated with one of the two techniques. In one group, the patients were intubated with the help of the VIU and in the control group, tracheal intubation was performed conventionally. The duration of intubation, as well as the minimal SpO2 achieved during the procedure, were measured. Results: Patient characteristics were similar in both groups. Seventeen patients had a direct LG of 2 or 3 (no patient had a grade of 4). Out of these 17 patients, the LG systematically improved with the VIU and always attained grade 1 (P<0.0001). The intubation time was shorter within the VIU group, but did not attain significance. There was no difference in the SpO2 post-intubation. Conclusion: In MO patients, the use of the VIU significantly improves the visualisation of the larynx, thereby improving the intubation conditions. [source] Evidence for a Single Nucleotide Polymorphism in the KCNQ1 Potassium Channel that Underlies Susceptibility to Life-Threatening ArrhythmiasJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 11 2001TOMOYUKI KUBOTA M.D. Ion Channel Polymorphism and Cardiac Arrhythmia. Introduction: Congenital long QT syndrome (LQTS) is a genetically heterogeneous arrhythmogenic disorder caused by mutations in at least five different genes encoding cardiac ion channels. It was suggested recently that common polymorphisms of LQTS-associated genes might modify arrhythmia susceptibility in potential gene carriers. Methods and Results: We examined the known LQTS genes in 95 patients with definitive or suspected LQTS. Exon-specific polymerase chain reaction single-strand conformation polymorphism and direct sequence analyses identified six patients who carried only a single nucleotide polymorphism in KCNQ1 that is found in , 11% of the Japanese population. This 1727G> A substitution that changes the sense of its coding sequence from glycine to serine at position 643 (G643S) was mostly associated with a milder phenotype, often precipitated by hypokalemia and bradyarrhythmias. When heterologously examined by voltage-clamp experiments, the in vitro cellular phenotype caused by the single nucleotide polymorphism revealed that G643S- KCNQ1 forms functional homomultimeric channels, producing a significantly smaller current than that of the wild-type (WT) channels. Coexpression of WT- KCNQ1 and G643S- KCNQ1 with KCNE1 resulted in , 30% reduction in the slow delayed rectifier K+ current IKs without much alteration in the kinetic properties except its deactivation process, suggesting that the G643S substitution had a weaker dominant-negative effect on the heteromultimeric channel complexes. Conclusion: We demonstrate that a common polymorphism in the KCNQ1 potassium channel could be a molecular basis for mild IKs dysfunction that, in the presence of appropriate precipitating factors, might predispose potential gene carriers to life-threatening arrhythmias in a specific population. [source] Novel stem/progenitor cells with neuronal differentiation potential reside in the leptomeningeal nicheJOURNAL OF CELLULAR AND MOLECULAR MEDICINE, Issue 9b 2009Francesco Bifari Abstract Stem cells capable of generating neural differentiated cells are recognized by the expression of nestin and reside in specific regions of the brain, namely, hippocampus, subventricular zone and olfactory bulb. For other brain structures, such as leptomeninges, which contribute to the correct cortex development and functions, there is no evidence so far that they may contain stem/precursor cells. In this work, we show for the first time that nestin-positive cells are present in rat leptomeninges during development up to adulthood. The newly identified nestin-positive cells can be extracted and expanded in vitro both as neurospheres, displaying high similarity with subventricular zone,derived neural stem cells, and as homogeneous cell population with stem cell features. In vitro expanded stem cell population can differentiate with high efficiency into excitable cells with neuronal phenotype and morphology. Once injected into the adult brain, these cells survive and differentiate into neurons, thus showing that their neuronal differentiation potential is operational also in vivo. In conclusion, our data provide evidence that a specific population of immature cells endowed of neuronal differentiation potential is resident in the leptomeninges throughout the life. As leptomeninges cover the entire central nervous system, these findings could have relevant implications for studies on cortical development and for regenerative medicine applied to neurological disorders. [source] Cross-sectional study of oral mucosal conditions among a central Amazonian Indian community, BrazilJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 1 2004Paulo José Benevides Dos Santos Background:, A cross-sectional study on the oral mucosal conditions among the Waimiri Atroari Indians from central Amazonia, Brazil, has been conducted. These Indians keep their traditional way of life and are free from habits such as smoking, alcohol drinking, and use of pacifiers. Methods:, Clinical examinations of a representative, randomly selected sample of patients during routine dental treatment, following ethical procedures recommended by Brazilian laws were made. Results:, Out of 922 individuals, 587 were examined, among which 52.57% of the children up to 12 years old and 73.44% of patients aged 13 years or older presented at least one oral mucosal condition. The conditions more frequently observed were, in decreasing order of prevalence: fissured tongue, focal epithelial hyperplasia (FEH), lesions of traumatic origin, geographic tongue, Fordyce's spots, and candidiasis. Only one case of leukoplakia was identified. Conclusions:, Conditions observed among theses Indians were essentially the same that have been described in other populations around the world, except for FEH, which, as a characteristic lesion of Indians, had high prevalence (20.95%). The lesions observed were related to the way of life of this specific population. [source] Cleavage of platelet endothelial cell adhesion molecule-1 (PECAM-1) in platelets exposed to high shear stressJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 11 2004Y. Naganuma Platelet endothelial cell adhesion molecule-1 (PECAM-1, CD31) is a 130 kDa transmembrane glycoprotein that belongs to the immunoglobulin superfamily and is expressed on the surface of endothelial cells, platelets, and other blood cells. Although the importance of this adhesion molecule in various cell,cell interactions is established, its functional role in platelets remains to be elucidated. In this study, we examined whether PECAM-1 underwent changes in platelets exposed to high shear stress. Platelet PECAM-1 was cleaved under high shear stress and was released into the extracellular fluid as a fragment with an approximate molecular weight of 118 kDa. The cleavage was inhibited by an anti-VWF MoAb, but not by recombinant VWF A1 domains. These findings suggest that the GPIb,VWF interaction is involved in PECAM-1 cleavage under high shear stress, and that the cleavage is independent of GPIb clustering by VWF multimers. Furthermore, EGTA or calpeptin inhibited PECAM-1 cleavage. This finding provides evidence for the involvement of calpain in PECAM-1 cleavage. Flow-cytometric analysis revealed that PECAM-1 expression on the platelet surface was decreased under high shear stress. This reduction occurred exclusively in a specific population of platelets, which corresponded to platelet-derived microparticles (PMP). In conclusion, PECAM-1 cleavage under high shear stress is closely related to the activation of calpain and the process of PMP formation mediated by the GPIb,VWF interaction. [source] Pale, poor, and ,pretubercular' children: a history of pediatric antituberculosis efforts in France, Germany, and the United States, 1899,1929NURSING INQUIRY, Issue 3 2004Cynthia Connolly An international consensus emerged in the years between 1900 and 1910 regarding the need to refocus antituberculosis efforts away from treating tuberculosis in adults and toward preventing active disease in children. This paper uses social history as a framework to explore pediatric health experiments in France (foster placement of city children with rural farm families), Germany (open-air schools), and the United States (preventorium) for children considered ,pretubercular'. The scientific, social, and political variables that reshaped prevailing ideas and practice with regard to TB prevention during those years are described. The creation of the first preventorium in the United States is explained and the way in which French and German pediatric prevention strategies were adapted to address a specific population considered at high risk in the United States, indigent immigrants, is detailed. For each of these three nations, nurses were central actors. Their efforts provide a unique vantage point to study the cultural dimensions of risk and prevention embedded in nursing care and the interplay between science, culture, nurses, and the state. [source] Developing Health Promotion Interventions: A Multisource Method Applied to Weight Loss Among Low-Income Postpartum WomenPUBLIC HEALTH NURSING, Issue 2 2010Lorraine O. Walker ABSTRACT Developing focused and relevant health promotion interventions is critical for behavioral change in a low-resource or special population. Evidence-based interventions, however, may not match the specific population or health concern of interest. This article describes the Multisource Method (MSM), which, in combination with a workshop format, may be used by health professionals and researchers in health promotion program development. The MSM draws on positive deviance practices and processes, focus groups, community advisors, behavioral change theory, and evidence-based strategies. Use of the MSM is illustrated in the development of ethnic-specific weight loss interventions for low-income postpartum women. The MSM may be useful in designing future health programs designed for other special populations for whom existing interventions are unavailable or lack relevance. [source] A Landmark Analysis-Based Approach to Age and Sex Classification of the Skull of the Mediterranean Monk Seal (Monachus monachus) (Hermann, 1779)ANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 5 2009C. Brombin Summary This work aimed at applying geometric morphometric analysis techniques to the skull of the Mediterranean monk seal (Monachus monachus, Hermann, 1779). Inferential analyses were performed using a non-parameteric permutation framework based on a series of skulls of different age classes belonging to individuals of both sexes. Our goal was to establish whether a statistical approach based on osteometric measurements and surface analysis of photographs of the left lateral plane of the skull may lead to a different and scientifically sound method of age and sex classification in this critically endangered marine mammal. Our data indicate that non-parametric combination methodology enables the researcher to give local assessment using a combination with domains. Developing geometric morphometric techniques in a non-parametric permutation framework could be useful in solving high dimensional and small sample size problems as well as classification problems, including zoological classification of specimens within a specific population. The Mediterranean monk seal is believed to be the world's rarest pinniped and one of the most endangered mammals of the world, with fewer than 600 individuals currently surviving. The use of shape analysis would allow new insights into the biological characteristics of the monk seal by simply extracting potentially new information on age and size from museal specimens. [source] Ratio Estimation with Measurement Error in the Auxiliary VariateBIOMETRICS, Issue 2 2009Timothy G. Gregoire Summary With auxiliary information that is well correlated with the primary variable of interest, ratio estimation of the finite population total may be much more efficient than alternative estimators that do not make use of the auxiliary variate. The well-known properties of ratio estimators are perturbed when the auxiliary variate is measured with error. In this contribution we examine the effect of measurement error in the auxiliary variate on the design-based statistical properties of three common ratio estimators. We examine the case of systematic measurement error as well as measurement error that varies according to a fixed distribution. Aside from presenting expressions for the bias and variance of these estimators when they are contaminated with measurement error we provide numerical results based on a specific population. Under systematic measurement error, the biasing effect is asymmetric around zero, and precision may be improved or degraded depending on the magnitude of the error. Under variable measurement error, bias of the conventional ratio-of-means estimator increased slightly with increasing error dispersion, but far less than the increased bias of the conventional mean-of-ratios estimator. In similar fashion, the variance of the mean-of-ratios estimator incurs a greater loss of precision with increasing error dispersion compared with the other estimators we examine. Overall, the ratio-of-means estimator appears to be remarkably resistant to the effects of measurement error in the auxiliary variate. [source] Model simulation of the patient flow through a screening centre for diabetic retinopathyACTA OPHTHALMOLOGICA, Issue 6 2005Anja B. Hansen Abstract. Purpose:,To construct a quantitative, flexible and simplified mathematical model of the patient flow through the Eye Clinic at the Steno Diabetes Centre (SDC) in order to enable rational dimensioning and assess the effects of modifications. Methods:,Patient data were drawn from the Eye Care database at the SDC. A simple patient flow model was constructed, allowing simultaneous adjustments of all variables, and the model was tested. Two scenarios were simulated: (1) adjusting the algorithm that assigns the follow-up intervals, and (2) increasing the population size to include all patients with diabetes in Copenhagen County. Results:,The model can describe the patient flow under steady state conditions, but is less precise in predicting transient changes with the present set-up. Accordingly all simulations were run for a substantial number of iterations. The two scenarios illustrate the usefulness of the model by calculating the required photographic examination capacity for the specific population, thereby allowing better estimations of future dimensioning of the organization. Conclusion:,The study presents a patient flow model that can be used to illustrate the effects of proposed changes prior to their implementation, specifically with respect to the capacity of the system. [source] Nordic Occupational Skin Questionnaire (NOSQ-2002): a new tool for surveying occupational skin diseases and exposureCONTACT DERMATITIS, Issue 2 2003P Susitaival Occupational skin diseases are among the most frequent work-related diseases in industrialized countries. Good occupational skin disease statistics exist in few countries. Questionnaire studies are needed to get more data on the epidemiology of occupational skin diseases. The Nordic Occupational Skin Questionnaire Group has developed a new questionnaire tool , Nordic Occupational Skin Questionnaire (NOSQ-2002) , for surveys on work-related skin disease and exposures to environmental factors. The 2 NOSQ-2002 questionnaires have been compiled by using existing questionnaires and experience. NOSQ-2002/SHORT is a ready-to-use 4-page questionnaire for screening and monitoring occupational skin diseases, e.g. in a population or workplace. All the questions in the short questionnaire (NOSQ-2002/SHORT) are included in the long version, NOSQ-2002/LONG, which contains a pool of questions to be chosen according to research needs and tailored to specific populations. The NOSQ-2002 report includes, in addition to the questionnaires, a comprehensive manual for researchers on planning and conducting a questionnaire survey on hand eczema and relevant exposures. NOSQ-2002 questionnaires have been compiled in English and translated into Danish, Swedish, Finnish and Icelandic. The use of NOSQ-2002 will benefit research on occupational skin diseases by providing more standardized data, which can be compared between studies and countries. [source] SOCIAL ECOLOGY AND RECIDIVISM: IMPLICATIONS FOR PRISONER REENTRY,CRIMINOLOGY, Issue 2 2008DANIEL P. MEARS Despite the marked increase in incarceration over the past 30 years and the fact that roughly two thirds of released offenders are rearrested within 3 years of release, we know little about how the social ecology of the areas to which offenders return may influence their recidivism or whether it disproportionately affects some groups more than others. Drawing on recent scholarship on prisoner reentry and macrolevel predictors of crime, this study examines a large sample of prisoners released to Florida communities to investigate how two dimensions of social ecology,resource deprivation and racial segregation,may independently, and in interaction with specific populations, influence recidivism. The findings suggest that ecology indeed is consequential for recidivism, and it differentially influences some groups more than others. We discuss these findings and their implications for theory, research, and policy. [source] Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studiesDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 3 2009Philip A. May Abstract Researching the epidemiology and estimating the prevalence of fetal alcohol syndrome (FAS) and other fetal alcohol spectrum disorders (FASD) for mainstream populations anywhere in the world has presented a challenge to researchers. Three major approaches have been used in the past: surveillance and record review systems, clinic-based studies, and active case ascertainment methods. The literature on each of these methods is reviewed citing the strengths, weaknesses, prevalence results, and other practical considerations for each method. Previous conclusions about the prevalence of FAS and total FASD in the United States (US) population are summarized. Active approaches which provide clinical outreach, recruitment, and diagnostic services in specific populations have been demonstrated to produce the highest prevalence estimates. We then describe and review studies utilizing in-school screening and diagnosis, a special type of active case ascertainment. Selected results from a number of in-school studies in South Africa, Italy, and the US are highlighted. The particular focus of the review is on the nature of the data produced from in-school methods and the specific prevalence rates of FAS and total FASD which have emanated from them. We conclude that FAS and other FASD are more prevalent in school populations, and therefore the general population, than previously estimated. We believe that the prevalence of FAS in typical, mixed-racial, and mixed-socioeconomic populations of the US is at least 2 to 7 per 1,000. Regarding all levels of FASD, we estimate that the current prevalence of FASD in populations of younger school children may be as high as 2,5% in the US and some Western European countries. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009; 15:176,192. [source] Review of bupropion for smoking cessationDRUG AND ALCOHOL REVIEW, Issue 2 2003ROBYN RICHMOND Abstract The advent of bupropion hydrochloride sustained release (Zyban) has heralded a major change in the options available for smoking cessation pharmacotherapy. Bupropion is a selective re-uptake inhibitor of dopamine and noradrenalin which prevents or reduces cravings and other features of nicotine withdrawal. Bupropion is a useful oral and non-nicotine form of pharmacotherapy for smoking cessation. For this review a total of 221 papers were reviewed plus poster presentations. This review examines in detail original clinical trials on efficacy, categorised according to whether they were acute treatment trials in healthy smokers; studies in specific populations such as people with depression, chronic obstructive pulmonary disease (COPD) or cardiovascular disease; or relapse prevention studies. Overall, these studies in varying populations comprising over four thousand subjects, showed bupropion consistently produces a positive effect on smoking cessation outcomes. The evidence highlights the major public health role that bupropion has in smoking cessation. The methodological issues of published clinical trials reporting one year outcomes were examined in detail including: completeness of follow-up; loss to follow-up; intention to treat analysis; blindness of assessment; and validation of smoking status. The review discusses contraindications, adverse effects, dose and overdose, addictive potential, and the role of bupropion in reducing cessation-related weight gain. Bupropion combined with or compared to other pharmacotherapies (nicotine patch; nortriptyline) is considered. Impressive evidence exists for the use of bupropion in smoking cessation among difficult patients who are hard-core smokers such as those with cardiovascular disease, chronic obstructive pulmonary disease (COPD) and depression. Bupropion reduces withdrawal symptoms as well as weight gain and is effective for smoking cessation for people with and without a history of depression or alcoholism. Serious side effects of bupropion use are rare. The major safety issue with bupropion is risk of seizures (estimated at approximately 0.1%) and it should not be prescribed to patients with a current seizure disorder or any history of seizures. In clinical trials of bupropion for smoking cessation no seizures were reported. Allergic reactions occur at a rate of approximately 3% and minor adverse effects are common including dry mouth and insomnia. [source] Approaches to tobacco control: the evidence baseEUROPEAN JOURNAL OF DENTAL EDUCATION, Issue 2004M. Lober Aquilino Tobacco production, distribution, and use are international issues with significant health and economic implications. This paper provides an overview of the effective approaches to tobacco control including decreasing demand for tobacco products through taxation, consumer education, research, bans on advertising and promotion, warning labels, and restrictions on public smoking. The effectiveness of reducing the supply of tobacco products through prohibition, restrictions on youth access, crop substitution, trade restrictions, and control of smuggling, will also be discussed. Decreasing smoking, particularly among young people, by preventing or delaying initiation, preventing regular use, and increasing cessation through behavioural approaches for all ages is reviewed. Cessation methods including pharmacological approaches, ,quitlines', Internet programmes, and the targeting of specific populations are discussed. Internet availability of tobacco products and sustainability of current efforts are presented as continuing challenges to tobacco control. [source] NGF and GDNF ameliorate the increase in ATF3 expression which occurs in dorsal root ganglion cells in response to peripheral nerve injuryEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 6 2004Sharon Averill Abstract Activating transcription factor-3 (ATF3) is a member of the ATF/CREB transcription factor superfamily and is induced in dorsal root ganglion (DRG) cells after nerve injury. In order to study the regulation of ATF3, we have examined the effect of nerve growth factor (NGF) and glial cell line-derived neurotrophic factor (GDNF) on ATF3 expression. In untreated rats, sciatic nerve transection induced ATF3 immunoreactivity in 82% of L4 DRG cells at 14 days after axotomy. Intrathecal delivery of NGF or GDNF for 2 weeks commencing immediately after injury reduced the ATF3 expression to 35 and 23% of DRG cells, respectively. Cell size analysis indicated that NGF had protected a population of mainly small- to medium-sized cells, but that the GDNF had protected a population of both small and large cells. This effect was confirmed by double labelling for P2X3, CGRP and 200 kDa neurofilament, markers for small peptide-poor cells, peptide-rich cells and large cells, respectively. Thus GDNF reduced the percentage of ATF3-immunoreactive P2X3 cells from 70 to 4%, and the percentage of ATF3-immunoreactive neurofilament cells from 63 to 24%. NGF was less effective than GDNF in reducing ATF3 expression in these cell types, but reduced the percentage of ATF3-immunoreactive CGRP cells from 10% to <,1%. These results show that ATF3 expression in specific populations of DRG cells can be modulated by exogenous supplementation of specific trophic factors, and suggest that ATF3 expression may normally be induced by the loss of target-derived NGF and GDNF. [source] Characterization of mutations in ATP8B1 associated with hereditary cholestasisHEPATOLOGY, Issue 1 2004Leo W. J. Klomp Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic cholestasis and develop liver fibrosis. BRIC patients experience intermittent attacks of cholestasis that resolve spontaneously. Mutations in ATP8B1 (previously FIC1) may result in PFIC or BRIC. We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations. Most mutations are rare, occurring in 1,3 families, or are limited to specific populations. Many patients are compound heterozygous for 2 mutations. Mutation type or location correlates overall with clinical severity: missense mutations are more common in BRIC (58% vs. 38% in PFIC), while nonsense, frameshifting, and large deletion mutations are more common in PFIC (41% vs. 16% in BRIC). Some mutations, however, lead to a wide range of phenotypes, from PFIC to BRIC or even no clinical disease. ATP8B1 mutations were detected in 30% and 41%, respectively, of the PFIC and BRIC patients screened. Supplementary material for this article can be found on the HEPATOLOGY website (http://interscience.wiley.com/jpages/0270-9139/suppmat/index.html) and at www.atp8b1-primers.nl (HEPATOLOGY 2004;40:27,38.) [source] Culturally centered psychosocial interventionsJOURNAL OF COMMUNITY PSYCHOLOGY, Issue 2 2006Guillermo Bernal Over the last few decades, psychologists and other health professionals have called attention to the importance of considering cultural and ethnicminority aspects in any psychosocial interventions. Although, at present, there are published guidelines on the practice of culturally competent psychology, there is still a lack of practical information about how to carry out appropriate interventions with specific populations of different cultural and ethnic backgrounds. In this article, the authors review relevant literature concerning the consideration of cultural issues in psychosocial interventions. They present arguments in favor of culturally centering interventions. In addition, they discuss a culturally sensitive framework that has shown to be effective for working with Latinos and Latinas. This framework may also be applicable to other cultural and ethnic groups. @ 2006 Wiley Periodicals, Inc. [source] The Determinants of Being Unbanked for U.S. ImmigrantsJOURNAL OF CONSUMER AFFAIRS, Issue 1 2006SHERRIE L. W. RHINE Random-effects binary choice models are estimated to identify the attributes that influence the likelihood that immigrants are unbanked. This study finds that the likelihood to be unbanked is higher for immigrants with less education, poverty-level income, or a larger family but lower for immigrants with greater net worth or higher income. Among immigrant groups, Mexican and other Latin American immigrants have the highest rates of being unbanked. Programs aimed at helping immigrants move into the financial mainstream may benefit from taking into account the differences in socioeconomic attributes and migration experiences of specific populations. [source] Population structure in the Atlantic salmon: insights from 40 years of research into genetic protein variationJOURNAL OF FISH BIOLOGY, Issue 2005E. Verspoor Electrophoretic studies of proteins remain a primary source of insight into genetic diversity in many species including the Atlantic salmon Salmo salar, one of the most culturally and economically important fish species of the North Atlantic region. Since 1966, >350 scientific papers on protein variation have been published encompassing 25 000+ salmon from over 400 locations in >200 river systems across the species' distribution. Variation has been detected at 30% of the 110 protein loci screened, though most studies examine <40. The method has been applied largely to the investigation of population structure and differentiation, but work has also led to the systematic revision of the genus Salmo and remains the primary source of insight into hybridization in the wild with brown trout Salmo trutta. Spatial patterns of differentiation show temporal stability, both within and among river systems, and strongly support structuring of the species into river and tributary specific populations and the designation of European and North American populations as distinct sub-species. They also show widespread regional differentiation within both continents, beyond the marked subcontinental differences between Baltic Sea and Atlantic Ocean populations in Europe. Most of the differentiation probably reflects gene flow and founder events associated with colonization following the retreat of the glaciers from much of the species' modern range. However, variation at MEP-2* shows strong correlations with environmental temperature, both within and among rivers, and associations with phenotypic performance. This suggests selection is acting on the locus and provides compelling evidence for the local adaptation of populations. Protein studies have led to more population centred management of the species and have been exploited in the discrimination of regional stocks in mixed stock analysis in high seas fisheries, particularly in the Baltic Sea, and as markers for the assessment of stocking success. They have also advanced insight into how the genetic character of populations can be changed in cultivation and the potential impact of salmon aquaculture and stocking on wild populations. The method has been largely superseded by DNA based analyses, but the results remain highly relevant to Atlantic salmon management and conservation and are an irreplaceable data set for studying genetic stability of populations over time. [source] Validation and reproducibility of a semi-quantitative Food Frequency Questionnaire for use in elderly Swiss womenJOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 5 2006E. Wynn Dumartheray Abstract Objective, The principal aim of this study was to develop a Swiss Food Frequency Questionnaire (FFQ) for the elderly population for use in a study to investigate the influence of nutritional factors on bone health. The secondary aim was to assess its validity and both short-term and long-term reproducibility. Design, A 4-day weighed record (4 d WR) was applied to 51 randomly selected women of a mean age of 80.3 years. Subsequently, a detailed FFQ was developed, cross-validated against a further 44 4-d WR, and the short- (1 month, n = 15) and long-term (12 months, n = 14) reproducibility examined. Setting, French speaking part of Switzerland. Subjects, The subjects were randomly selected women recruited from the Swiss Evaluation of the Methods of Measurement of Osteoporotic Fracture cohort study. Results, Mean energy intakes by 4-d WR and FFQ showed no significant difference [1564.9 kcal (SD 351.1); 1641.3 kcal (SD 523.2) respectively]. Mean crude nutrient intakes were also similar (with nonsignifcant P -values examining the differences in intake) and ranged from 0.13 (potassium) to 0.48 (magnesium). Similar results were found in the reproducibility studies. Conclusion, These findings provide evidence that this FFQ adequately estimates nutrient intakes and can be used to rank individuals within distributions of intake in specific populations. [source] Parkinson's disease in Arabs: A systematic reviewMOVEMENT DISORDERS, Issue 9 2008FRCP, Hani T.S. Benamer PhD Abstract Studies of specific populations have provided invaluable knowledge about Parkinson's disease (PD), especially in the field of genetics. The present report systematically reviews the medical literature on PD in Arabs. Medline and Embase were searched, and 24 article were identified: genetic (n = 17), epidemiological (n = 3), and clinical series (n = 5). Both autosomal dominant and recessive forms of inherited PD are described, associated with four genes (Parkin, PINK1, LRRK2, and PARK9). The G2019S LRRK2 mutation is more common in both familial (37,42%) and apparently sporadic PD (41%) in North African Arabs than in Europeans and North Americans (2,3%). The incidence of PD is reported at 4.5 per 100,000 person-years and reported prevalence at 27 to 43 per 100,000 persons. Hospital-based clinical series suggest that parkinsonism is the commonest movement disorder. Clinical features of PD in Arabs are not significantly different from those reported elsewhere. PD was reported as the cause of dementia in around 7% of Arabs. The majority of studies relate to the role of genes in the etiology of PD in North African Arabs. Further genetic, epidemiological and clinical studies from the majority of Arabic countries may enhance our understanding of PD. © 2008 Movement Disorder Society. [source] Fuel sensing and the central nervous system (CNS): implications for the regulation of energy balance and the treatment for obesityOBESITY REVIEWS, Issue 3 2005R. J. Seeley Summary This review describes the product of the 3-day International Association for the Study of Obesity (IASO) Stock Conference held in March 2004 and sponsored by Abbott Laboratories. The conference was focused on how the mechanisms by which individual cells sense their own fuel status might influence the energy balance of the entire organism. Whether you are a single-celled organism or a sophisticated mammal with a large cerebral cortex, it is critical that cellular activity be matched to the available fuel necessary for that activity. Rapid progress has been made in the last decade in our understanding of the critical metabolic events that cells monitor to accomplish this critical task. More recent developments have begun to apply this understanding to how critical populations of neurones may monitor similar events to control both food intake and energy expenditure. The picture that emerges is that numerous peripheral fuel sensors communicate to the central nervous system (CNS) via neural and humoral routes. Moreover, it has been known for decades that specific populations of neurones sense changes in ambient glucose levels and adjust their firing rate in response and changes in neuronal glucose metabolism can influence energy balance. The CNS, however, does not just sense glucose but rather appears to be sensitive to a wide range of metabolic perturbations associated with fuel availability. This information is used to adjust both caloric intake and the disposition of fuels in the periphery. Increased understanding of these CNS fuel-sensing mechanisms may lead to novel therapeutic targets for obesity. [source] Historiography and forensic analysis of the Fort King George "skull": Craniometric assessment using the specific population approachAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 2 2009Christopher M. Stojanowski Abstract In this article, we evaluate the association between the Fort King George "skull" and two Franciscans who were killed during a Guale revolt in 1597 and whose remains were never recovered (Pedro de Corpa and Francisco de Veráscola). The history and historiography of the revolt is summarized to generate a forensic profile for the individuals. The calvaria is described in terms of preservation, taphonomy, possible trauma, age, and sex. Because these factors are consistent with the individuals in question, population affinity is assessed using comparative craniometric analysis. In response to recent criticism of the typological nature of forensic population affinity assessment, we use a population specific approach, as advocated by Alice Brues (1992). Archaeological and historical data inform the occupation history of the site, and data from those specific populations are used in the comparative analysis. Results of linear discriminant function analysis indicate a low probability that the calvaria is a Guale (the precontact inhabitants of southeastern Georgia) or an individual of African descent. Comparison among European and Euro-American populations indicated poor discriminatory resolution; however, the closest match suggests a New World affinity rather than an Old World English, Scottish, or Iberian affinity for the specimen. Future analyses that will provide greater resolution about the identity of the calvaria are outlined. The case highlights the unique challenges of historical forensics cases relative to those of traditional jurisprudence, as well as the potential for using historiography to overcome those challenges in future analyses. Am J Phys Anthropol, 2009. © 2009 Wiley-Liss, Inc. [source] Immunohistochemical localization of Ih channel subunits, HCN1,4, in the rat brainTHE JOURNAL OF COMPARATIVE NEUROLOGY, Issue 3 2004Takuya Notomi Abstract Hyperpolarization-activated cation currents (Ih) contribute to various physiological properties and functions in the brain, including neuronal pacemaker activity, setting of resting membrane potential, and dendritic integration of synaptic input. Four subunits of the Hyperpolarization-activated and Cyclic-Nucleotide-gated nonselective cation channels (HCN1,4), which generate Ih, have been cloned recently. To better understand the functional diversity of Ih in the brain, we examined precise immunohistochemical localization of four HCNs in the rat brain. Immunoreactivity for HCN1 showed predominantly cortical distribution, being intense in the neocortex, hippocampus, superior colliculus, and cerebellum, whereas those for HCN3 and HCN4 exhibited subcortical distribution mainly concentrated in the hypothalamus and thalamus, respectively. Immunoreactivity for HCN2 had a widespread distribution throughout the brain. Double immunofluorescence revealed colocalization of immunoreactivity for HCN1 and HCN2 in distal dendrites of pyramidal cells in the hippocampus and neocortex. At the electron microscopic level, immunogold particles for HCN1 and HCN2 had similar distribution patterns along plasma membrane of dendritic shafts in layer I of the neocortex and stratum lacunosum moleculare of the hippocampal CA1 area, suggesting that these subunits could form heteromeric channels. Our results further indicate that HCNs are localized not only in somato-dendritic compartments but also in axonal compartments of neurons. Immunoreactivity for HCNs often occurred in preterminal rather than terminal portions of axons and in specific populations of myelinated axons. We also found HCN2-immunopositive oligodendrocytes including perineuronal oligodendrocytes throughout the brain. These results support previous electrophysiological findings and further suggest unexpected roles of Ih channels in the brain. J. Comp. Neurol. 471:241,276, 2004. © 2004 Wiley-Liss, Inc. [source] Application of Laser-Assisted Microdissection for Gene Expression Analysis of Mammalian Germ CellsANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 3 2010R. Kenngott With 1 figure and 2 tables Summary Laser-assisted microdissection (LAM) is an important method to provide new significant insights into many embryological processes. To understand these processes, it is important to obtain specific populations of cells from complex tissue in an efficient and precise manner and to combine with many different molecular biological methods. During the last few years, the sophistication of the techniques of LAM has increased significantly and made the procedure easy to use. New micro-extraction protocols for DNA, RNA and proteins now allow broad downstream applications in the fields of genomics, transcriptomics and proteomics. In this review, we give a short overview of the application of LAM in combination with quantitative qPCR for the analysis of gene expression in mammalian germ cells. [source] Physical activity recommendations for older AustraliansAUSTRALASIAN JOURNAL ON AGEING, Issue 2 2010Jane Sims Aim:, The aim of this research was to produce evidence-based recommendations on physical activity designed to improve and maintain the health of older Australians. Methods:, The authors reviewed existing guidelines and consensus statements, systematic reviews, meta-analyses and research articles. Draft recommendations were circulated to stakeholder agencies and to an expert advisory group. Final recommendations were then forwarded to the Commonwealth Department of Health and Ageing for Ministerial approval. Results:, The physical activity recommendations for older Australians complement the current National Physical Activity Guidelines for adults and the American College of Sports Medicine and American Heart Association recommendations for older adults. The recommendations provide advice developed specifically for older Australians. Conclusion:, Although the recommendations may be manifested in different ways, according to specific populations or settings, they apply to older people across all levels of health and have application to community dwelling people and those in residential care accommodation. [source] | ||||||||||||||||||||||