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Additional Findings (additional + finding)
Selected AbstractsA unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 geneEUROPEAN JOURNAL OF NEUROLOGY, Issue 7 2007E. Matsubara A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene. [source] Reciprocal activating interaction between 6-sulfo LacNAc+ dendritic cells and NK cellsINTERNATIONAL JOURNAL OF CANCER, Issue 2 2009Rebekka Wehner Abstract Dendritic cells (DCs) display an extraordinary capacity to induce T-cell responses providing the opportunity of DC-based cancer vaccination strategies. Additional findings indicate that DCs may also play a crucial role for the activation of natural killer (NK) cells, which are important effectors in innate antitumor immunity. However, studies investigating the interaction between native human DCs and NK cells are limited. Recently, we defined 6-sulfo LacNAc (slan) DCs as a major subpopulation of myeloid human blood DCs, which represent principal producers of the proinflammatory cytokines tumor necrosis factor-, and interleukin (IL)-12. Functional data revealed that slanDCs efficiently induce neoantigen-specific CD4+ T cells and activate tumor-reactive cytotoxic T cells. When evaluating the crosstalk between slanDCs and NK cells in this study, we found that lipopolysaccharide (LPS)-activated slanDCs efficiently enhance NK cell CD69 expression and interferon (IFN)-, secretion. NK cell-mediated tumor-directed cytotoxicity was significantly improved by slanDCs. NK cell activation induced by slanDCs was critically dependent on IL-12. When investigating the impact of NK cells on the immunostimulatory capacity of slanDCs, we observed that they promote DC maturation. In addition, NK cells strongly enhanced the secretion of immunomodulatory IL-12 and reduced the release of immunosuppressive IL-10 by slanDCs. IFN-, and cell-to-cell contact contributed to these effects. Furthermore, data revealed that DC-NK cell crosstalk improves slanDC-mediated differentiation of naďve CD4+ T lymphocytes into IFN-,-producing Th1 cells. In conclusion, we demonstrate a reciprocal activating interaction between slanDCs and NK cells, which may play a pivotal role in the regulation of antitumor immunity. © 2008 Wiley-Liss, Inc. [source] An Analysis of the Integration of Strategic Sourcing and Negotiation PlanningJOURNAL OF SUPPLY CHAIN MANAGEMENT, Issue 4 2003Larry R. Smeltzer SUMMARY Initially, strategic sourcing is defined as an integrated, seven-step process that includes the negotiation plan. Research questions are then proposed to determine the extent to which negotiation is part of the integrated sourcing process. To answer the research questions, the strategic sourcing process and negotiation plan are evaluated in 29 cases. In 14 of the 29 cases, strategic sourcing was completed and integrated into the negotiation plan. This is just under half of the cases, which led to the general conclusion that negotiation is not well integrated with the other strategic sourcing processes. Additional findings indicated the appropriate negotiation style was used in only 64 percent of the cases, with most mismatches occurring when an integrative style was used instead of the more appropriate distributive style. Managerial and research implications of the findings are presented and discussed. [source] Ichthyosis Follicularis: A Case Report and Review of the LiteraturePEDIATRIC DERMATOLOGY, Issue 1 2003Abdullah Alfadley M.D., F.R.C.P.(C.) This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before. [source] "I'm Not Prejudiced, but . . .": Compensatory Egalitarianism in the 2008 Democratic Presidential PrimaryPOLITICAL PSYCHOLOGY, Issue 4 2010Corinne Moss-Racusin The historic 2008 Democratic presidential primary race between Barack Obama and Hillary Clinton posed a difficult choice for egalitarian White voters, and many commentators speculated that the election outcome would reflect pitting the effects of racism against sexism (Steinem, 2008). Because self-reported prejudices may be untrustworthy, we used the Implicit Association Test (IAT) to assess White adults' (1) condemnation of prejudices, and (2) attitudes toward the candidates in relation to voting decisions, as part of an online survey. Results supported the proposed compensatory egalitarianism process, such that Whites' voting choice was consistent with their implicit candidate preference, but in an effort to remain egalitarian, participants compensated for this preference by automatically condemning prejudice toward the other candidate's group. Additional findings showed that this process was moderated by participants' ethnicity and level of prejudice, as expected. Specifically, compensatory egalitarianism occurred primarily among Whites and individuals low in explicit prejudice. Implications for candidate support, aversive racism theory, and implicit compensation processes are discussed. [source] Holiday users of the Internet , ease of use, functionality and noveltyINTERNATIONAL JOURNAL OF TOURISM RESEARCH, Issue 4 2008Chris Ryan Abstract This study is based upon a sample of 517 international visitors to New Zealand. It suggests that Internet usage is based upon perceived usefulness and ease of system use. Of additional importance is user confidence about system security. Functional issues of purchasing seem to take priority over information search as users become more familiar with web pages. An additional finding is that entertainment needs are arguably better met by other Internet functions than those provided by destination web pages. Novelty on the Net is perhaps sought from specific sources, and not from the Net generally. Implications are discussed for both measurement and marketing. Copyright © 2008 John Wiley & Sons, Ltd. [source] Choosing among competing econometric forecasts: Regression-based forecast combination using model selectionJOURNAL OF FORECASTING, Issue 6 2001Norman R. Swanson Abstract Forecast combination based on a model selection approach is discussed and evaluated. In addition, a combination approach based on ex ante predictive ability is outlined. The model selection approach which we examine is based on the use of Schwarz (SIC) or the Akaike (AIC) Information Criteria. Monte Carlo experiments based on combination forecasts constructed using possibly (misspecified) models suggest that the SIC offers a potentially useful combination approach, and that further investigation is warranted. For example, combination forecasts from a simple averaging approach MSE-dominate SIC combination forecasts less than 25% of the time in most cases, while other ,standard' combination approaches fare even worse. Alternative combination approaches are also compared by conducting forecasting experiments using nine US macroeconomic variables. In particular, artificial neural networks (ANN), linear models, and professional forecasts are used to form real-time forecasts of the variables, and it is shown via a series of experiments that SIC, t -statistic, and averaging combination approaches dominate various other combination approaches. An additional finding is that while ANN models may not MSE-dominate simpler linear models, combinations of forecasts from these two models outperform either individual forecast, for a subset of the economic variables examined. Copyright © 2001 John Wiley & Sons, Ltd. [source] Sexual functioning in patients with end-stage liver disease before and after transplantationLIVER TRANSPLANTATION, Issue 10 2006James H. Sorrell The effects of end-stage liver disease (ESLD) on sexual functioning are complex and often overlooked in the context of chronic illness and the transplantation evaluation. The aim of the present study is to report on the prevalence of sexual dysfunction in patients with ESLD presenting for liver transplantation evaluation, as well as to examine a cohort after transplantation. Participants included 173 consecutive adult outpatients with ESLD who presented for orthotopic liver transplantation evaluation. All transplant candidates underwent a psychiatric evaluation, and a sexual history was taken by the transplant psychiatrist. Patients who received a liver transplant were contacted by telephone for follow-up (n = 39). The following domains were explored: sexual frequency, satisfaction, ability to orgasm, sexual interest, and, for men, erectile dysfunction. Before transplantation, high levels of sexual dysfunction were found, with women showing higher levels of dysfunction than men. Increased age and more severe liver disease were related to lower sexual frequency and satisfaction. Contrary to previous work, the cause of disease (alcoholic liver disease) was not related to sexual functioning before transplantation. Those with erectile dysfunction before transplantation showed continued dysfunction after transplantation. An additional finding was an age and gender bias against taking a sexual history from older women. Overall, for both men and women, the findings point to continued and persistent sexual dysfunction after transplantation. Findings may help transplant teams routinely inquire into the sensitive domain of sexual functioning early on and thereby provide an opportunity for treatment. Liver Transpl 12:1473-1477, 2006. © 2006 AASLD. [source] Fiscal Incentives, European Integration and the Location of Foreign Direct InvestmentTHE MANCHESTER SCHOOL, Issue 3 2002Florence Hubert Foreign direct investment in the European Economic Area (EEA) has grown rapidly in recent years. This paper tests for structural change in the geographical and industrial pattern of foreign direct investment in Europe using a panel data set on outward investment by German companies in the EEA since 1980. There is evidence of significant structural change since 1990, with nearly all locations and industries seeing a higher level of cross,border investment than might have been expected. We also investigate the scope for national governments to affect location choice through the use of fiscal instruments such as corporation taxes, investment in infrastructure and other forms of development grants and subsidies. The findings are mixed. Some measures, such as tax competitiveness, appear important but are sensitive to the specification of the model. However, the level of government fixed investment expenditure relative to that in other economies is found to have a significant positive impact, particularly in locations with less need for EU structural funds. Although the direct marginal impact appears relatively small, an additional finding of significant agglomeration forces suggests that fiscal policies could still have a permanent influence on the location of economic activities. [source] Copper- or Iron-Catalyzed Arylation of Phenols from respectively Aryl Chlorides and Aryl IodidesCHEMISTRY - A EUROPEAN JOURNAL, Issue 20 2008Ning Xia The first general entry into copper-catalyzed arylation of phenols from aryl chlorides is the principal outcome of the study presented in this article. The use of the 2,2,6,6-tetramethyl-3,5-heptanedione (1) as ligand is the key to the success of this reaction. An additional finding of this study, touched upon only briefly here, is the 1/Fe-catalyzed arylation of phenols from aryl iodides (R=a donating or an electron-withdrawing group). [source] Value of Transesophageal 3D Echocardiography as an Adjunct to Conventional 2D Imaging in Preoperative Evaluation of Cardiac MassesECHOCARDIOGRAPHY, Issue 6 2008Silvana Müller M.D. Background: This study sought to compare three-dimensional (3D) and two-dimensional (2D) transesophageal echocardiography (TEE) to assess intracardiac masses. It was hypothesized that 3D TEE would reveal incremental information for surgical and nonsurgical management. Methods: In 41 patients presenting with intracardiac masses (17 thrombi, 15 myxomas, 2 lymphomas, 2 caseous calcifications of the mitral valve and one each of hypernephroma, hepatocellular carcinoma, rhabdomyosarcoma, lipoma, and fibroelastoma), 2D and 3D TEE were performed, aiming to assess the surface characteristics of the lesions, their relationship to surrounding structures, and attachments. Diagnoses were made by histopathology (n = 28), by computed tomography (n = 8), or by magnetic resonance imaging (n = 5). Benefit was categorized as follows: (A) New information obtained through 3D TEE; (B) helpful unique views but no additional findings compared to 2D TEE; (C) results equivalent to 2D TEE; (D) 3D TEE missed 2D findings. Results: In 15 subjects (37%), 3D TEE revealed one or more items of additional information (category A) regarding type and site of attachment (n = 9, 22%), surface features (n = 6, 15%), and spatial relationship to surrounding structures (n = 8, 20%). In at least 18% of all intracardiac masses, 3D TEE can be expected to deliver supplementary information. In six patients, additional findings led to decisions deviating from those made on the basis of 2D TEE. In 11 subjects (27%), 3D echocardiographic findings were categorized as "B." Conclusions: Information revealed by 3D imaging facilitates therapeutic decision making and especially the choice of an optimal surgical access prior to removal of intracardiac masses. [source] Use of morphine and 6-monoacetylmorphine in blood for the evaluation of possible risk factors for sudden death in 192 heroin usersADDICTION, Issue 4 2003Anna Fugelstad Abstract Aims, To detect risk factors for sudden death from heroin injection. Design, Evaluation of data from forensic investigations of all fatal cases of suspected heroin death in a metropolitan area. Only cases with detectable morphine and 6-monoacetylmorphine (6-MAM) in blood were included in order to select heroin intoxication cases. Setting, Stockholm, Sweden. Measurements, Autopsy investigation and toxicological analysis of blood and urine; and police reports. Findings, In two-thirds of the 192 cases, death occurred in public places, and mostly without any time delay. Blood concentrations of morphine ranged from 50 to 1200 ng/g, and of 6-MAM from 1 to 80 ng/g. Codeine was detected in 96% of the subjects. In the majority of cases the forensic investigation indicated polydrug use, the most common additional findings being alcohol and benzodiazepines. However, in one-quarter of the cases other drug combinations were found. Previous abstinence from heroin and use of alcohol were identified as risk factors. For 6-MAM there was also a correlation with the presence of THC and benzodiazepines. Despite a high frequency of heart abnormalities (e.g. myocarditis and focal myocardial fibrosis), these conditions did not correlate with morphine or 6-MAM blood concentrations. Conclusions, We confirm that alcohol intake and loss of tolerance are risk factors for death from heroin use, whereas no connection to heart pathology was observed. Further, prospective, studies should focus on other possible risk factors. [source] Mumbai's Mysterious Middle ClassINTERNATIONAL JOURNAL OF URBAN AND REGIONAL RESEARCH, Issue 4 2006JAN NIJMAN Mumbai forms the décor to an interesting set of relationships among economic liberalization, globalization, class restructuring and an unprecedented housing construction boom. The much talked about new Indian middle class is primarily an urban phenomenon and seems nowhere more salient than in India's commercial capital and largest city. This article seeks to undo some of the mysteries that surround the new middle class: how it can be empirically defined, whether and how it is growing, how class restructuring in Mumbai conforms (or not) to Western arguments about social polarization, and how any such class restructuring can best be explained. The empirical analysis employs existing data from various sources on income and consumption in Mumbai (and India at large) and reports on selected findings from a recent survey by the author on housing, class and upward mobility among households in newly constructed homes in Greater Mumbai. Data on the distribution of household incomes show that the upper-middle income classes have grown relative to the total, that the lower-middle income classes have shrunk, and that the ranks of the poor have expanded slightly. Survey data among new home buyers in Mumbai suggest little upward mobility. Discourse about the ,new middle class' tends to focus on consumption rather than income and additional findings indicate that much of the growth in consumption is credit-based. [source] Ultrastructural pathology of Baltic salmon, Salmo salar L., yolk sac fry with the M74 syndromeJOURNAL OF FISH DISEASES, Issue 3 2002J Lundström The ultrastructural pathology in liver, brain, skeletal and cardiac muscle of Baltic salmon yolk sac fry with the M74 syndrome is described. In the clinical stage of disease, the main pathological findings in the liver were a depletion of glycogen, condensation of nuclear chromatin, hydropic degeneration of mitochondria and a dilation of the bile canaliculi. In the terminal stage, additional findings were lipid accumulation and myelin whorls in the cytoplasm. The rough endoplasmic reticulum (RER) was degranulated and vesiculated and in some individuals, it formed concentric membranous whorls. Mitochondria showed several additional lesions, such as matrix densities, pleomorphism and cristae abnormalities. Skeletal myocytes were degenerated, and intracellular lipid accumulation was seen in the myocardium. In the brain, an increased frequency of cells exhibiting pyknosis or karryorhexis was recorded. The cytoplasm of these cells formed an amorphous mass of moderate density. The evaluation of brain and skeletal muscle was complicated by sporadic occurrence of pathological findings in the reference material, i.e. clinically healthy Baltic salmon yolk sac fry. As these yolk sac fry are suspected to have a subclinical thiamine deficiency, reference material in future studies should include salmon yolk sac fry from Atlantic populations or originating from reared broodstock. [source] Focal Cortical Dysplasia: Improving Diagnosis and Localization With Magnetic Resonance Imaging Multiplanar and Curvilinear ReconstructionJOURNAL OF NEUROIMAGING, Issue 3 2002Maria Augusta Montenegro MD ABSTRACT Objective. To establish the contribution of multiplanar reconstruction (MPR) and curvilinear reformatting (CR) to the MRI investigation of focal cortical dysplasia (FCD). Methods. From a group of patients with intractable frontal lobe epilepsy, we selected patients with neuroimaging diagnosis of FCD. The diagnosis of FCD was based on the neuroimaging findings after a three step evaluation, always in the same order: (a) plain MRI films, (b) MPR, and (c) CR. After the selection of patients, the process of reviewing all the images in the three stages described above was performed by one of us, who did not take part on the selection of patients nor on the initial evaluation, and who was blind to the clinical and EEG findings of the patients. For data analysis, we first assessed the contribution of the additional findings of MPR analysis compared to the results of the evaluation using only plain MRI films, as is usually done in routine practice. Second, we assessed the contribution of CR to the findings of plain MRI films plus MPR. After completing the multistep evaluation, we all went back to review the plain MRI films with knowledge of lesion topography, in order to identify possible subtle features associated with FCD. Results. Seventeen patients met the inclusion criteria. Twelve had imaging diagnosis of FCD and were included in the second step of this project. Plain films of high resolution MRI showed the lesion in 6 (50%) of the 12 patients. By adding MPR to the plain MRI films, we identified lesions in all 12 patients. Furthermore, we found that MPR provided a better lesion localization and ascertainment of its relationship to other cerebral structures in 5 of 6 (83%) patients who had a lesion identified on plain films. By adding CR to the plain MRI films plus MPR analysis, we observed that (a) CR also allowed the identification of the dysplastic lesion in all patients, (b) CR improved lesion localization in one patient, and (c) CR provided a better visualization of the lesion extent in 4 patients (33%), showed a larger lesion in 3, and demonstrated that part of the area suspected as abnormal was more likely volume averaging in 2. Conclusion. MPR and CR analysis add to the neuroimaging evaluation of FCD by improving the lesion diagnosis and localization. CR helps to establish the extent of the lesion more precisely, allowing the visualization of some areas not shown on high resolution MRI and MPR. These techniques are complementary and do not replace the conventional wisdom of MRI analysis. [source] Pallidopyramidal disease: A misnomer?,MOVEMENT DISORDERS, Issue 9 2010Martin W.I.M. Horstink MD Abstract The combination of recessive early-onset parkinsonism and pyramidal tract signs caused by pallidopyramidal degeneration is known as pallidopyramidal disease or syndrome (PPD/S). We investigated whether patients diagnosed as Davison's PPD/S showed any definite proof of pyramidal and pallidal involvement, without findings suggestive of other nosological entities. Since Davison's original description, 15 other PPD/S cases have been reported, yet all lack proof of pyramidal or pallidal degeneration. Because of the dopa-responsiveness in all patients subsequent to Davison's report, we argue that these patients probably suffered from early-onset nigral parkinsonism or dopa-responsive dsystonia, rather than pallidal parkinsonism; in such cases, the presumed pyramidal Babinski could be a pseudobabinski ("striatal toe"). Secondary pallidopyramidal syndromes do occur, for example, in multiple system atrophy or Wilson's disease, but in these patients additional findings indicate diseases other than Davison's PPD/S. We conclude that the existence of PPD/S as a distinct clinico-pathological nosological entity, as proposed by Davison, is doubtful. In cases reported as Davison's PPD/S, the description "pallidopyramidal" seems to be a misnomer. © 2010 Movement Disorder Society [source] Cyclopia (synophthalmia) in Smith,Lemli,Opitz syndrome: First reported case and consideration of mechanism,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2010David D. Weaver Abstract Here we present a 24-week fetus with Smith,Lemli,Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2,3 toe syndactyly. The diagnosis of SLOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9,890,ng/ml; normal range,=,3,9,ng/ml), and molecularly by detecting two different mutations in the DHCR7 gene, the gene causing SLOS. The first mutation was an IVS8-1G>T change and the second was a deletion of exons 3 and 4; this latter mutation has not been reported previously. The mother carries the deletion, while the father carries the splice-site mutation. Also of note, the father has an abnormally low total plasma cholesterol level (104,109,mg/dl). This is the most severe case of HPE described in any patient with SLOS. We postulate that the HPE in this case resulted from severe impairment of Sonic Hedgehog signaling secondary to abnormal cholesterol metabolism; however, the unique combination of mutations in the fetus functionally appears to be no different from other homozygous null mutations reported in DHCR7. Therefore, there must be other yet to be identified factors that contributed to the severity of HPE in SLOS. © 2010 Wiley-Liss, Inc. [source] The use of combined ultrasound and magnetic resonance imaging in the detection of fetal anomaliesPRENATAL DIAGNOSIS, Issue 5 2010Xiomara M. Santos Abstract Objective To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. Methods We performed a retrospective review of patients referred to the TCFC between September 2001 and July 2007 with a fetal structural malformation. Data were abstracted to compare the referral diagnosis to TCFC imaging diagnoses and both were compared to postnatal diagnosis. Results Two hundred and twenty-four patients were referred who had a fetal US and MRI at TCFC. The most frequent indications were for abnormalities of the central nervous system (38%) and lung/thoracic cavity (34%), with congenital diaphragmatic hernia (CDH) the single most common referral diagnosis (n = 39; 17%). In 99 cases (42.7%) the referral diagnosis was concordant with the post-referral diagnosis, however, in 68 cases (29.3%) the post-referral diagnosis changed completely, and in 65 cases (28%) additional findings were discovered. Prenatal diagnoses following imaging at TCFC were concordant with postnatal diagnoses in 94.9% of cases. Conclusions Combined ultrasound and MRI provides additional diagnostic information or a corrected diagnosis in 57% of cases over the referral ultrasound diagnosis. Copyright © 2010 John Wiley & Sons, Ltd. [source] The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic reportBRITISH JOURNAL OF DERMATOLOGY, Issue 4 2003S.-M. Herrmann Summary Gardner syndrome, a phenotypic variant of familial adenomatous polyposis, is characterized by the classical clinical triad of skin and soft tissue tumours, osteomas and intestinal polyposis, but disease patterns with pairs of these findings have also been reported. Different mutations in the adenomatous polyposis coli (APC) gene have been shown to be associated with Gardner syndrome disease phenotypes. A 36-year-old patient presented with multiple epidermal cysts on the face, left ear lobe and neck, and the possible diagnosis of Gardner syndrome was based on the additional findings of two classical osteomas in the left radius and ulna and a cold non-malignant nodule of the thyroid gland. Intestinal polyposis was lacking at the time of examination. Major deletions but not microdeletions were excluded by a cytogenetic analysis with 650 chromosomal bands per haploid set. Systematic sequencing of the entire coding region of the APC gene (> 8500 bp) of the patient and five healthy controls was also performed. As a results, new APC gene polymorphisms were identified in exons 13 [A545A (A/G)] and 15 [G1678G (A/G), S1756S (G/T), P1960P (A/G)]. We also detected D1822V (A/T) which has recently been reported to be potentially related to colorectal carcinoma, and genotyped 194 randomly chosen healthy individuals from the Glasgow area for this as well as for the above variants in exons 13 and 15. Interestingly, of the 194 controls, 112 carried the DD (57·7%), 71 the DV (36·6%), and the remaining 11 (5·7%), including our patient, the VV genotype. It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. In conclusion, we failed to identify obvious germline candidate mutations in >,8500 bp of the coding region of the APC gene in a patient with multiple epidermal cysts, osteomas and a thyroid gland nodule; major chromosomal deletions were excluded. Therefore, we assume that only the presence of intestinal polyposis is a marker for Gardner syndrome. [source] | |||||||||||||||||||||||||||||||