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Terms modified by Affected Selected AbstractsActin stress fiber pre-extension in human aortic endothelial cellsCYTOSKELETON, Issue 4 2008Lan Lu Abstract Actin stress fibers (SFs) enable cells to sense and respond to mechanical stimuli and affect adhesion, motility and apoptosis. We and others have demonstrated that cultured human aortic endothelial cells (HAECs) are internally stressed so that SFs are pre-extended beyond their unloaded lengths. The present study explores factors affecting SF pre-extension. In HAECs cultured overnight the baseline pre-extension was 1.10 and independent of the amount of cell shortening. Decreasing contractility with 30 mM BDM or 10 ,M blebbistatin decreased pre-extension to 1.05 whereas increasing contractility with 2 nM calyculin A increased pre-extension to 1.26. Knockdown of ,-actinin-1 with an interfering RNA increased pre-extension to 1.28. None of these affected the wavelength of the buckled SFs. Pre-extension was the same in unperturbed cells as in those in which the actin cytoskeleton was disrupted by both chemical and mechanical means and then allowed to reassemble. Finally, disrupting MTs or IFs did not affect pre-extension but increased the wavelength. Taken together, these results suggest that pre-extension of SFs is determined primarily by intrinsic factors, i.e. the level of actin-myosin interaction. This intrinsic control of pre-extension is sufficiently robust that pre-extension is the same even after the actin cytoskeleton has been disrupted and reorganized. Unlike pre-extension, the morphology of the compressed SFs is partially determined by MTs and IFs which appear to support the SFs along their lengths. Cell Motil. Cytoskeleton 2008. © 2008 Wiley-Liss, Inc. [source] Frequency of intrusive luxation in deciduous teeth and its effectsDENTAL TRAUMATOLOGY, Issue 4 2010Vivian Carvalho Second, to investigate the sequelae of total and partial intrusive luxation in the primary anterior teeth and in their successors and finally, to establish whether the sequelae on both deciduous and permanent teeth were related to the child's age at the time of the intrusion. Data collected from records of 169 boys and 138 girls, all between the ages of zero and 10 years, who were undergoing treatment during the period of March 1996 to December 2004. The sample was composed of 753 traumatized deciduous teeth, of which 221 presented intrusive luxation injury. Children with ages ranging from one to 4 years were the most affected with falls being the main cause of intrusion. Of all intruded teeth 128 (57.9%) were totally intruded and 93 (42.1%) partially. Pulp necrosis/premature loss and color change were the most frequent sequelae in both total and partial intrusions. Concerning permanent dentition, the most common disturbances were color change and/or enamel hypoplasia. Both types of intrusion caused eruption disturbance. Total intrusion was the most frequent type of intrusive luxation. There was no significant correlation between the child's age at the time of intrusion and the frequency of subsequent sequela on primary injured teeth (P = 0.035), between the age at the time of injury and the developmental disturbances on permanent teeth (P = 0.140). [source] Prevalence of crown fractures in 8,10 years old schoolchildren in Canoas, BrazilDENTAL TRAUMATOLOGY, Issue 5 2004Maximiano Ferreira Tovo Abstract,,, The objective of this work was to evaluate the prevalence of children with crown fractures in permanent anterior teeth in 206 schoolchildren (104 girls and 102 boys) between the ages of 8 and 10 years, enrolled in three public schools in the city of Canoas, Brazil. The prevalence found was 17% with no significant difference between boys and girls, as well as between the ages. The most affected tooth was the maxillary central incisor, and a majority of the children showed only one affected tooth (88.6%). The types of fracture most commonly found were oblique and horizontal, and the portions of dental structures most affected were ,enamel only' and ,enamel and dentin'. Only seven children (20%) sought out dental treatment. [source] Highly Purified 1000-cSt Silicone Oil for Treatment of Human Immunodeficiency Virus-Associated Facial Lipoatrophy: An Open Pilot TrialDERMATOLOGIC SURGERY, Issue 10 2004Derek H. Jones MD Background. Among human immunodeficiency virus-infected individuals, facial lipoatrophy has become epidemic. Those affected are stigmatized, leading to psychological distress, social and career impediments, and impaired compliance to human immunodeficiency virus medications. Temporary treatment options are limited by excessive cost, necessity of frequent treatments, and lack of a natural look or feel beneath the skin. Affected patients require more persistent, affordable, safe, and effective treatment options. Objective. The objective was to evaluate the safety and efficacy of highly purified 1000-cSt silicone oil injected by microdroplet serial puncture technique for the treatment of human immunodeficiency virus-associated lipoatrophy. Methods. Data on 77 patients with a complete correction were analyzed to determine the number of treatments, amount of silicone, and time required to reach complete correction, relative to initial severity. Results. The volume of silicone, number of treatments, and time required to reach a complete correction were directly related to initial severity of lipoatrophy (p < 0.0001). Supple, even facial contours were routinely restored, with all patients tolerating treatments well. No adverse events were noted. Conclusion. In this pilot trial, we have demonstrated that highly purified 1000-cSt silicone oil is a safe and effective treatment option for human immunodeficiency virus facial lipoatrophy. Longer-term safety and efficacy in human immunodeficiency virus patients remain to be proven. [source] Mutation in the abcb7 gene causes abnormal iron and fatty acid metabolism in developing medaka fishDEVELOPMENT GROWTH & DIFFERENTIATION, Issue 9 2008Akimitsu Miyake The medaka fish (Oryzias latipes) is an emerging model organism for which a variety of unique developmental mutants have now been generated. Our recent mutagenesis screening of the medaka isolated a unique mutant that develops a fatty liver at larval stages. Positional cloning identified the responsible gene as medaka abcb7. Abcb7, a mitochondrial ABC (ATP binding cassette) half-transporter, has been implicated in iron metabolism. Recently, human Abcb7 was found to be mutated in X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A). The homozygous medaka mutant exhibits abnormal iron metabolism in erythrocytes and accumulation of lipid in the liver. Microarray and in situ hybridization analyses demonstrated that the expression of genes involved in iron and lipid metabolisms are both affected in the mutant liver, suggesting novel roles of Abcb7 in the development of physiologically functional liver. The medaka abcb7 mutant thus could provide insights into the pathogenesis of XLSA/A as well as the normal function of the gene. [source] Brain dysmorphology in individuals with severe prenatal alcohol exposureDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 3 2001Sarah L Archibald MA Our previous studies revealed abnormalities on structural MRI (sMRI) in small groups of children exposed to alcohol prenatally. Microcephaly, disproportionately reduced basal ganglia volume, and abnormalities of the cerebellar vermis and corpus callosum were demonstrated. The present study used sMRI to examine in detail the regional pattern of brain hypoplasia resulting from prenatal exposure to alcohol using a higher resolution imaging protocol and larger sample sizes than reported previously. Fourteen participants (mean 11.4 years; eight females, six males) with fetal alcohol syndrome (FAS) and 12 participants (mean 14.8 years; four females, eight males) with prenatal exposure to alcohol (PEA) but without the facial features of FAS were compared to a group of 41 control participants (mean 12.8 years, 20 females, 21 males). Findings of significant microcephaly and disproportionately reduced basal ganglia volumes in the FAS group were confirmed. Novel findings were that in FAS participants, white matter volumes were more affected than gray matter volumes in the cerebrum, and parietal lobes were more affected than temporal and occipital lobes. Among subcortical structures, in contrast to the disproportionate effects on caudate nucleus, the hippocampus was relatively preserved in FAS participants. Differences between the PEA group and controls were generally non-significant; however, among a few of the structures most affected in FAS participants, there was some evidence for volume reduction in PEA participants as well, specifically in basal ganglia and the parietal lobe. There were no group differences in cerebral volume asymmetries. Severe prenatal alcohol exposure appears to produce a specific pattern of brain hypoplasia. [source] Effect of chronic denervation and denervation-reinnervation on cytoplasmic creatine kinase transcript accumulationDEVELOPMENTAL NEUROBIOLOGY, Issue 3 2001Charles H. Washabaugh Abstract The extensor digitorum longus (EDL) and soleus muscles of adult mice were chronically denervated or denervated and allowed to reinnervate. Muscles were evaluated 1, 5, 14, 21, and 52 days after sciaticectomy. In terms of weight loss, myofiber atrophy, degeneration, and fibrosis, the soleus muscle was more affected than the EDL by chronic denervation. Fifty-two days after chronic denervation, the number of molecules of MCK/ng total RNA in both muscles (determined with competitive PCR) decreased, with the soleus muscle being more affected. At that stage, BCK mRNA levels in the denervated soleus were unchanged, but they were increased (>50%) in the EDL. Reinnervation restored MCK transcript accumulation in the EDL, whereas, in the soleus MCK, transcripts exceeded control values by 57%, approaching levels in the reinnervated EDL. Despite restoration of MCK mRNA levels, the number of molecules of BCK mRNA/ng total RNA was four- to fivefold higher in reinnervated versus control muscles, suggesting that the genes encoding the CK mRNAs are not coordinately regulated in adult muscle. The role of denervation induced, fiber type changes in regulating CK mRNA accumulation has been evaluated. Electron microscopic analyses have established that fibrosis is not a factor that determines BCK mRNA levels in the chronically denervated or denervated-reinnervated muscles. CK isozyme analyses support the hypothesis that a greater proportion of BCK mRNA found in 52 day chronically denervated and denervated-reinnervated muscles is produced in myofibers vs. nonmuscle cells than in control muscles. © 2001 John Wiley & Sons, Inc. J Neurobiol 47: 194,206, 2001 [source] Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance.DIABETIC MEDICINE, Issue 10 2002Functional analysis of Ala513Pro, Gly1158Glu IRS- Abstract Aims To define further the role of IRS-1 mutations in human syndromes of severe insulin resistance. Methods The IRS-1 gene was scanned for mutations in 83 unrelated affected subjects and 47 unaffected individuals using fluorescent single-strand conformation polymorphism (fSSCP) analysis. A novel heterozygous mutation, Gly1158Glu, was found in one affected subject. Four and two subjects were heterozygous for the previously reported variants Gly972Arg and Ala513Pro, respectively. The previously identified variant Gly819Arg was found in one affected and one unaffected subject. While Gly972Arg has been described to alter the signalling properties of IRS-1, no functional studies of Ala513Pro or Gly1158Glu have been reported. Results Chinese hamster ovary (CHO) cells stably over-expressing the insulin receptor were transiently transfected with vectors expressing either wild-type, Glu1158 or Pro513 IRS-1. A modest increase in insulin-stimulated tyrosine phosphorylation of Glu1158 IRS-1 was observed. However, this did not result in any significant change in the association of Grb2 or the p85, subunit of PI3-kinase or of PI3-kinase activity. In parallel studies, the Pro513 IRS-1 variant was indistinguishable from wild-type IRS-1. Conclusions While subtle effects of these variants cannot be excluded in this system, it is unlikely that these variants are responsible for the extreme insulin resistance seen in the subjects harbouring them. Although IRS proteins play a central role in insulin signalling, functionally significant mutations in the IRS-1 gene are a rare cause of human syndromes of severe insulin resistance. [source] Histopathological alterations in the liver of the sharptooth catfish Clarias gariepinus from polluted aquatic systems in South AfricaENVIRONMENTAL TOXICOLOGY, Issue 2 2009M. J. Marchand Abstract There is a need for sensitive bio-monitoring tools in toxicant impact assessment to indicate the effect of toxicants on fish health in polluted aquatic ecosystems. Histopathological assessment of fish tissue allows for early warning signs of disease and detection of long-term injury in cells, tissues, or organs. The aim of this study was to assess the degree of histopathological alterations in the liver of C. gariepinus from two dams in an urban nature reserve, (Gauteng, South Africa). Two dams (Dam 1 and Dam 2) were chosen for their suspected levels of toxicants. Water and sediments were sampled for metal and potential endocrine disrupting chemical analysis. A quantitative and qualitative histology-based health assessment protocol was employed to determine the adverse health effects in fish. The analysis of blood constituents, fish necropsy, calculation of condition factors, and hepatosomatic indices were employed to support the findings of the qualitative and quantitative histological assessment of liver tissue. Assessment of the liver tissue revealed marked histopathological alterations including: structural alterations (hepatic cord disarray) affecting 27% of field specimens; plasma alterations (granular degeneration 98% and fatty degeneration 25%) of hepatocytes; an increase in melanomacrophage centers (32%); hepatocyte nuclear alterations (90%); and necrosis of liver tissue (14%). The quantitative histological assessment indicated that livers of fish collected from Dam 1 were more affected than the fish livers collected from Dam 2. © 2008 Wiley Periodicals, Inc. Environ Toxicol, 2009. [source] An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorderEPILEPSIA, Issue 6 2008Steven L. Kugler Summary We report a three generation pedigree with 11 of 22 affected with a variant form of rolandic epilepsy, speech impairment, oromotor apraxia, and cognitive deficit. The core features comprised nocturnal rolandic seizures, interictal centrotemporal spike waves with early age of onset and late age of offset. The transmission of the phenotype was consistent with autosomal dominant inheritance, with variable expressivity but no evidence of anticipation. We found evidence that the seizure and speech traits may be dissociated. No abnormalities were found by cytogenetic analysis. Linkage analysis excluded loci at 11p, 15q, 16p12, and Xq22 for related phenotypes, suggesting genetic heterogeneity. [source] Autosomal Dominant Inheritance of Centrotemporal Sharp Waves in Rolandic Epilepsy FamiliesEPILEPSIA, Issue 12 2007Bhavna Bali Summary Purpose: Centrotemporal sharp (CTS) waves, the electroencephalogram (EEG) hallmark of rolandic epilepsy, are found in approximately 4% of the childhood population. The inheritance of CTS is presumed autosomal dominant but this is controversial. Previous studies have varied considerably in methodology, especially in the control of bias and confounding. We aimed to test the hypothesis of autosomal dominant inheritance of CTS in a well-designed family segregation analysis study. Methods: Probands with rolandic epilepsy were collected through unambiguous single ascertainment. Siblings in the age range 4,16 years underwent sleep-deprived EEG; observations from those who remained awake were omitted. CTS were rated as present or absent by two independent observers blinded to the study hypothesis and subject identities. We computed the segregation ratio of CTS, corrected for ascertainment. We tested the segregation ratio estimate for consistency with dominant and recessive modes of inheritance, and compared the observed sex ratio of those affected with CTS for consistency with sex linkage. Results: Thirty siblings from 23 families underwent EEG examination. Twenty-three showed evidence of sleep in their EEG recordings. Eleven of 23 recordings demonstrated CTS, yielding a corrected segregation ratio of 0.48 (95% CI: 0.27,0.69). The male to female ratio of CTS affectedness was approximately equal. Conclusions: The segregation ratio of CTS in rolandic epilepsy families is consistent with a highly penetrant autosomal dominant inheritance, with equal sex ratio. Autosomal recessive and X-linked inheritance are rejected. The CTS locus might act in combination with one or more loci to produce the phenotype of rolandic epilepsy. [source] Circadian Variation in Heart-Rate Variability in Localization-related EpilepsyEPILEPSIA, Issue 5 2007Håkan Persson Summary:,Purpose: Case,control studies of sudden unexpected death in epilepsy (SUDEP) have reported that SUDEP is more likely to occur during sleep and thus presumably during night hours. The circadian variation of heart-rate variability (HRV) might be of relevance to this risk. We examined night versus daytime HRV in patients with newly diagnosed and refractory localization-related epilepsy, assessing the effects of drug treatment and epilepsy surgery on the night/daytime HRV ratio. Methods: We used spectral analysis to assess HRV and calculated the night-time (00.00,05.00)/daytime (07.30,21.30) ratio of HRV in 14 patients with newly diagnosed localization-related epilepsy before and during carbamazepine (CBZ) treatment and in 21 patients with temporal lobe epilepsy before and after epilepsy surgery. Both groups were compared with age- and sex-matched controls. Results: No significant differences were found from controls in the night/daytime ratios of HRV whether compared before or after initiation of treatment with CBZ in newly diagnosed epilepsy patients. When patients were used as their own controls, night/daytime ratios of standard deviation of RR intervals (p = 0.04) and total power (p = 0.04) were significantly lower during treatment than before. Compared with those of controls, the night/daytime ratios were lower in epilepsy surgery patients before surgery [low-frequency power (p = 0.04); high-frequency power (p = 0.04)]. Night/daytime ratios did not change significantly after surgery. Conclusions: The HRV of the patients was more affected during night-time when the risk of SUDEP seems to be highest in such patients. [source] An epidemiological study of myopathies in Warmblood horsesEQUINE VETERINARY JOURNAL, Issue 2 2008L. M. HUNT Summary Reasons for performing study: There are few detailed reports describing muscular disorders in Warmblood horses. Objectives: To determine the types of muscular disorders that occur in Warmblood horses, along with presenting clinical signs, associated risk factors and response to diet and exercise recommendations, and to compare these characteristics between horses diagnosed with polysaccharide storage myopathy (PSSM), those diagnosed with a neuromuscular disorder other than PSSM (non-PSSM) and control horses. Methods: Subject details, muscle biopsy diagnosis and clinical history were compiled for Warmblood horses identified from records of biopsy submissions to the University of Minnesota Neuromuscular Diagnostic Laboratory. A standardised questionnaire was answered by owners at least 6 months after receiving the muscle biopsy report for an affected and a control horse. Results: Polysaccharide storage myopathy (72/132 horses) was the most common myopathy identified followed by recurrent exertional rhabdomyolysis (RER) (7/132), neurogenic or myogenic atrophy (7/132), and nonspecific myopathic changes (14/132). Thirty-two biopsies were normal. Gait abnormality, ,tying-up', Shivers, muscle fasciculations and atrophy were common presenting clinical signs. Forty-five owners completed questionnaires. There were no differences in sex, age, breed, history or management between control, PSSM and non-PSSM horses. Owners that provided the recommended low starch fat supplemented diet and regular daily exercise reported improvement in clinical signs in 68% (19/28) of horses with a biopsy submission and 71% of horses diagnosed with PSSM (15/21). Conclusions: Muscle biopsy evaluation was a valuable tool to identify a variety of myopathies in Warmblood breeds including PSSM and RER. These myopathies often presented as gait abnormalities or overt exertional rhabdomyolysis and both a low starch fat supplemented diet and regular exercise appeared to be important in their successful management. Potential relevance: Warmbloods are affected by a variety of muscle disorders, which, following muscle biopsy diagnosis can be improved through changes in diet and exercise regimes. [source] New Mexico's 1998 drive-up liquor window closure.ADDICTION, Issue 5 2004Study II: economic impact on owners ABSTRACT Aims This study examined the economic impact of the New Mexico legislative action closing drive-up liquor windows on the retail establishments that operated them. Design A telephone survey was conducted 20 months after the closure seeking information and owners' opinions about how their outlets had changed since the closure and how this affected their business. In addition, 2 years of aggregated pre- and post-closure total gross receipts revenues were obtained from the New Mexico Taxation and Revenue Department, with convenience stores as a comparison group. Findings Interviews were completed for 149 of 220 establishments. Over one-quarter of former drive-up liquor windows (28%) had been converted to ,step-in' sales, defined as an outside door where customers can stop and enter the premises while their car is running. Almost two-thirds (61%) of owners reported decreased annual gross revenues following closure, with a reported average 15% reduction in alcohol sales. This is consistent with findings of decreased gross receipts for operators of non-urban, but not urban, drive-up liquor windows compared to convenience store gross receipts. Almost three-quarters (72%) of those surveyed would re-open the drive-up window if the law were rescinded. Conclusion Over one-quarter of the drive-up owners converted to step-in alcohol sales that still allow a form of drive-up liquor sales. Despite this, the forced closure of New Mexico's drive-up liquor windows negatively impacted total sales and liquor sales revenues of establishments that operated them. [source] 22-ene-25-oxa-vitamin D: a new vitamin D analogue with profound immunosuppressive capacitiesEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 5 2005C. Daniel Abstract Background, The biologic role of 1,25-dihydroxyvitamin D3, such as anti-inflammatory functions, reduction of cytokine production by T cells and immunoglobulin production by B cells, is well established. However, its clinical use as an immunosuppressive agent is limited because of the hypercalcemic toxicity occurring after systemic application. The purpose of this study was to investigate the immunmodulatory effects of 22-ene-25-oxa-vitamin D (ZK156979), a novel low calcemic vitamin D analogue. Materials and methods, Human peripheral blood mononuclear cells (PBMCs) from healthy donors were isolated using the Ficoll Hypaque technique, cultured for 24 h and treated with different concentrations of ZK156979 ranging from 10,5 to 10,10 mol L,1 compared with 1,25-dihydroxyvitamin D3[10,5,10,10 mol L,1] following phytohaemagglutinin (PHA) stimulation. Interferon gamma (IFN,), tumour necrosis factor alpha (TNF,), interleukin 1 beta (IL-1,), interleukin 10 (IL-10) and interleukin 4 (IL-4) secretion in supernatants were measured by ELISA. Results, ZK156979 inhibited the PHA-induced Th1-response (IFN, and TNF, levels) and the macrophage-product IL-1, in a concentration-dependent manner (10,10,10,5 mol L,1) with the efficiency on cytokine expression compared with 1,25-dihydroxyvitamin D3 being slightly reduced. In contrast, ZK156979 and 1,25-dihydroxyvitamin D3 both affected the Th2 response, leading to significantly increased IL-10- and IL-4 secretion. Conclusions, ZK156979 is a member of novel vitamin D analogues revealing prominent immunomodulatory and suppressive characteristics with distinctive inhibition of Th1-cytokines whereas the Th2 compartment is augmented, thus providing a considerable therapeutic potential in T-cell -mediated diseases. [source] Structure,Catalytic Activity Relationship in Bridging Silacycloalkyl Ring Conformations of Constrained Geometry Titanium ComplexesEUROPEAN JOURNAL OF INORGANIC CHEMISTRY, Issue 13 2008Eugene Kang Abstract A series of cyclic silylene-bridged (amidocyclopentadienyl)dichlorotitanium(IV) complexes [TiCl2{,5 -1-(CySitBuN- ,N)-2,3,4,5-R4 -C5}] was prepared, where CySi = silacyclobutyl (a), silacyclopentenyl (b), silacyclopentyl (c), and silacyclohexyl (d); R = H (4), Me (5). The starting silane, dichlorosilacycloalkane CySiCl2 (1), was treated with NaCp (LiCp*), followed by LiNHtBu to yield the cyclic silylene-bridged ligands (R4C5)CySi(NHtBu) [R = H (2); Me (3)]. Subsequent deprotonation with n -butyllithium, followed by transmetalation with TiCl4 yielded the desired constrained geometry complexes (CGCs) (CpCySiNtBu)TiCl2 (4) and (Cp*CySiNtBu)TiCl2 (5). The structures of the resulting cyclopentadienyl- (4b and 4c) and tetramethylcyclopentadienyl(silacycloalkyl)amidotitanium(IV) dichloride (5a, 5c, and 5d) species were studied by using X-ray crystallography to obtain geometrical information on cyclic silylene-modified CGCs. The ethylene polymerization by the cyclic silylene-bridged CGCs 4 and 5 was examined to verify the structure,catalytic activity relationship derived from variation of the size of a cyclic silylene ring. Indeed, the size of the cyclic silylene ring at the 1,1,-position of 4 and 5 affected the catalytic activities through the ethylene polymerization. Systematic increase in the catalytic activities was observed as the cyclic silylene-bridging unit was expanded from a four- to six-membered ring. In the present study, we found that CGCs of TiIV with a six-membered silylene-bridged ligand (5d) produced active catalytic species for the formation of polyethylene with Mw = 42.7,×,10,4 g,mol,1 and Mw/Mn = 2.1 with excellent catalytic activities (20.9 kg,polymer per mmol of Ti). When titanium(IV) dimethyl complex (6d) was applied in continuous polymerization process, impressive high catalytic activity on copolymerization with 1-octene was observed. (© Wiley-VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2008) [source] Inter-hemispheric inhibition is impaired in mirror dystoniaEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 8 2009S. Beck Abstract Surround inhibition, a neural mechanism relevant for skilled motor behavior, has been shown to be deficient in the affected primary motor cortex (M1) in patients with focal hand dystonia (FHD). Even in unilateral FHD, however, electrophysiological and neuroimaging studies have provided evidence for bilateral M1 abnormalities. Clinically, the presence of mirror dystonia, dystonic posturing when the opposite hand is moved, also suggests abnormal interhemispheric interaction. To assess whether a loss of inter-hemispheric inhibition (IHI) may contribute to the reduced surround inhibition, IHI towards the affected or dominant M1 was examined in 13 patients with FHD (seven patients with and six patients without mirror dystonia, all affected on the right hand) and 12 right-handed, age-matched healthy controls (CON group). IHI was tested at rest and during three different phases of a right index finger movement in a synergistic, as well as in a neighboring, relaxed muscle. There was a trend for a selective loss of IHI between the homologous surrounding muscles in the phase 50 ms before electromyogram onset in patients with FHD. Post hoc analysis revealed that this effect was due to a loss of IHI in the patients with FHD with mirror dystonia, while patients without mirror dystonia did not show any difference in IHI modulation compared with healthy controls. We conclude that mirror dystonia may be due to impaired IHI towards neighboring muscles before movement onset. However, IHI does not seem to play a major role in the general pathophysiology of FHD. [source] Salivary gland function in persons with ectodermal dysplasiasEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 5 2003Hilde Nordgarden Ectodermal dysplasias (EDs) constitute a group of conditions comprising developmental defects in two or more of the following tissues: hair, teeth, nails, and sweat glands. The aim of the present study was to contribute to a better understanding of salivary gland involvement in EDs. An ED group (n = 39, median age 12 yr; 24 males, 15 females) and a healthy age- and sex-matched control group were studied. Citric acid stimulated submandibular and parotid salivary flow rates and salivary concentrations, and output of total protein, acidic proline-rich proteins and histatins were analysed. The associations between quantitative and qualitative salivary parameters were also studied. In the ED group, 13 persons (33%) demonstrated a significantly reduced secretion of submandibular and/or parotid saliva, in addition to a low unstimulated and/or chewing-stimulated whole salivary flow. In the ED group as a whole, a reduced median secretory rate of submandibular saliva was found, whereas the median concentrations of some protein parameters were increased. However, the overall output of proteins was normal or reduced. Submandibular glands seemed to be more affected than parotid glands in EDs. In conclusion, salivary secretory tests are recommended in persons with known or suspected EDs. [source] Initial Margin Requirements, Volatility, and the Individual Investor: Insights from JapanFINANCIAL REVIEW, Issue 1 2002Kenneth A. Kim Initial margin requirements represent: (1) a cost impediment to the wealth constrained investor and (2) a potential way of mitigating excessive volatility. However, prior empirical research finds that margins are not an effective tool in reducing volatility. We consider the possibility that margins primarily affect certain stocks and investors. Specifically, we test whether margins affect individuals who, as a group, we believe to be the investors most affected when margin requirements change. Our initial empirical tests, however, do not support this contention. [source] Does contact dermatitis to fragrances influence the quality of life?FLAVOUR AND FRAGRANCE JOURNAL, Issue 4 2009A descriptive study measuring, comparing the quality of life, skin involvement in patients with contact dermatitis to fragrances Abstract The study of the impact of diseases on individuals' quality of life is an important and useful tool for clinicians, particularly for an efficient follow-up and for the good management of patients suffering from chronic diseases. Contact dermatitis is a common condition in dermatological patients. However, despite efficient screening, the understanding and acceptance of contact allergy remain difficult and avoidance of these allergens is not always possible. The aim of this study was to determine whether contact dermatitis to fragrances affects quality of life and to define whether there is a relationship between the severity of skin involvement and quality of life. To measure the quality of life, we chose the VQ-Dermato (VQ-d) questionnaire, the only valid and reliable questionnaire in French, to which we added 10 non-validated specific questions regarding fragrances. We included patients with pertinent positive patch test reactions to fragrances attending the contact clinic between 1 January 1998 and 30 September 2004. During this time, 2814 patients were patch tested and 310 had positive reactions to the fragrance mix 8% (FM) of the standard series. We recruited non-atopic individuals, exclusively allergic to fragrance mix, with patch test reactions scored ++ and +++; the only additional positive reactions accepted were to balsam of Peru and the patient's own perfumes; 52 patients met these criteria, but only 33 participated. To evaluate the severity of skin involvement, we used the severity scoring of atopic dermatitis (SCORAD index). The quality of life of individuals allergic to fragrances was mostly moderately affected. Patients were more affected psychologically during the first year after the diagnosis of fragrance allergy. Skin reaction during the acute stage of contact allergy to fragrances can be severe. No correlation between VQ-d and SCORAD could be established. It was concluded that there was no severe impact on quality of life because of fragrance contact allergy, but that psychological issues and depression may play an important role in determining the way skin disease affects people. Patch testing improves the quality of life. Lack of correlation between VQ-d and SCORAD demonstrates that an objective measure such as SCORAD may not fully capture the impact of the disease. These results cannot be generalized because of the low response rate and limited sample size. Copyright © 2009 John Wiley & Sons, Ltd. [source] PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family historyGENETIC EPIDEMIOLOGY, Issue 5 2009F. Alarcon Abstract Providing valid risk estimates of a genetic disease with variable age of onset is a major challenge for prevention strategies. When data are obtained from pedigrees ascertained through affected individuals, an adjustment for ascertainment bias is necessary. This article focuses on ascertainment through at least one affected and presents an estimation method based on maximum likelihood, called the Proband's phenotype exclusion likelihood or PEL for estimating age-dependent penetrance using disease status and genotypic information of family members in pedigrees unselected for family history. We studied the properties of the PEL and compared with another method, the prospective likelihood, in terms of bias and efficiency in risk estimate. For that purpose, family samples were simulated under various disease risk models and under various ascertainment patterns. We showed that, whatever the genetic model and the ascertainment scheme, the PEL provided unbiased estimates, whereas the prospective likelihood exhibited some bias in a number of situations. As an illustration, we estimated the disease risk for transthyretin amyloid neuropathy from a French sample and a Portuguese sample and for BRCA1/2 associated breast cancer from a sample ascertained on early-onset breast cancer cases. Genet. Epidemiol. 33:379,385, 2009. © 2008 Wiley-Liss, Inc. [source] Informative-Transmission Disequilibrium Test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspringGENETIC EPIDEMIOLOGY, Issue 2 2007Chao-Yu Guo Abstract To date, there is no test valid for the composite null hypothesis of no linkage or no association that utilizes transmission information from heterozygous parents to their unaffected offspring as well as the affected offspring from ascertained nuclear families. Since the unaffected siblings also provide information about linkage and association, we introduce a new strategy called the informative-transmission disequilibrium test (i-TDT), which uses transmission information from heterozygous parents to all of the affected and unaffected offspring in ascertained nuclear families and provides a valid chi-square test for both linkage and association. The i-TDT can be used in various study designs and can accommodate all types of independent nuclear families with at least one affected offspring. We show that the transmission/disequilibrium test (TDT) (Spielman et al. [1993] Am. J. Hum. Genet. 52:506,516) is a special case of the i-TDT, if the study sample contains only case-parent trios. If the sample contains only affected and unaffected offspring without parental genotypes, the i-TDT is equivalent to the sibship disequilibrium test (SDT) (Horvath and Laird [1998] Am. J. Hum. Genet. 63:1886,1897. In addition, the test statistic of i-TDT is simple, explicit and can be implemented easily without intensive computing. Through computer simulations, we demonstrate that power of the i-TDT can be higher in many circumstances compared to a method that uses affected offspring only. Applying the i-TDT to the Framingham Heart Study data, we found that the apolipoprotein E (APOE) gene is significantly linked and associated with cross-sectional measures and longitudinal changes in total cholesterol. Genet. Epidemiol. © 2006 Wiley-Liss, Inc. [source] Impact of history or onset of chronic medical conditions on higher-level functional capacity among older community-dwelling Japanese adultsGERIATRICS & GERONTOLOGY INTERNATIONAL, Issue 2003Yoshinori Fujiwara Background: Many studies have examined the impact of chronic medical conditions on the age-related decline in basic activities of daily living (BADL) and the instrumental activities of daily living (IADL), but less is known concerning the influence of chronic disease on physical, cognitive, social, and economic aspects of higher-level functional capacity. Methods: Subjects comprised 793 and 725 persons aged 65,84 years, living in an urban and a rural Japanese community, respectively. A baseline interview established any history of chronic medical conditions. Four years later, a second interview again assessed chronic disease, and higher-level functional capacity was evaluated using the Tokyo Metropolitan Institute of Gerontology (TMIG) Index of Competence. Results: Multiple logistic regression analysis revealed that declines in total score and/or any of three subscales of the TMIG Index of Competence were significantly associated with a history of chronic disease, the onset of visual impairment and the development of hearing impairment, even after controlling for the subject's age, gender, educational attainment, and baseline TMIG Index of Competence. Episodes of stroke were significantly associated with declines in IADL. Hypertension, diabetes mellitus, and heart disease were also significantly associated with a decrease in functional competence, although each affected a different subscale of the TMIG Index of Competence. Conclusions: The present results underline the importance of controlling chronic medical conditions through a physically active lifestyle and an appropriate medical regimen in order to limit the age-related decline in functional capacity. [source] A role for Connexin43 during neurodevelopmentGLIA, Issue 7 2007Amy E. Wiencken-Barger Abstract Connexin43 (Cx43) is the predominant gap junction protein expressed in premitotic radial glial cells and mature astrocytes. It is thought to play a role in many aspects of brain development and physiology, including intercellular communication, the release of neuroactive substances, and neural and glial proliferation and migration. To investigate the role of Cx43 in brain physiology, we generated a conditional knockout (cKO) mouse expressing Cre recombinase driven by the human GFAP promoter and a floxed Cx43 gene. The removal of Cx43 from GFAP-expressing cells affects the behavior of the mice and the development of several brain structures; however, the severity of the phenotype varies depending on the mouse background. One mouse subline, hereafter termed Shuffler, exhibits cellular disorganization of the cortex, hippocampus, and cerebellum, accompanied by ataxia and motor deficits. The Shuffler cerebellum is most affected and displays altered distribution and lamination of glia and neurons suggestive of cell migration defects. In all Shuffler mice by postnatal day two (P2), the hippocampus, cortex, and cerebellum are smaller. Disorganization of the ventricular and subventricular zone of the cortex is also evident. Given that these are sites of early progenitor cell proliferation, we suspect production and migration of neural progenitors may be altered. In conclusion, neurodevelopment of Shuffler/Cx43 cKO mice is abnormal, and the observed cellular phenotype may explain behavioral disturbances seen in these animals as well as in humans carrying Cx43 mutations. © 2007 Wiley-Liss, Inc. [source] Canopy recovery after drought dieback in holm-oak Mediterranean forests of Catalonia (NE Spain)GLOBAL CHANGE BIOLOGY, Issue 12 2004Francisco Lloret Abstract Climate change is likely to produce more frequent and longer droughts in the Mediterranean region, like that of 1994, which produced important changes in the Quercus ilex forests, with up to 76% of the trees showing complete canopy dieback. At the landscape level, a mosaic of responses to the drought was observed, linked to the distribution of lithological substrates. Damage to the dominant tree species (Q. ilex) and the most common understorey shrub (Erica arborea) was more noticeable on the compact substrates (breccia) than on the fissured ones (schist). This result was consistent with observations documenting deeper root penetration in schist than in breccia materials, allowing the plants growing on fissured substrates to use water from deeper soil levels. Smaller plants were more vulnerable to drought than larger plants in the trees, but not in the shrubs. Overall, Q. ilex was more affected than E. arborea. The resilience of the system was evaluated from the canopy recovery 1 year after the episode. Stump and crown resprouting was fairly extensive, but the damage pattern in relation to substrate, plant size, and species remained similar. The effect of recurrent drought episodes was studied on vegetation patches of Q. ilex located on mountain slopes and surrounded by bare rock. We observed that plants that resprouted weakly after a previous drought in 1985 were more likely to die or to produce poor regeneration in 1995 than plants that had resprouted vigorously. Vegetation patches located on the lower part of the slope were also less damaged than patches situated uphill. The study provides evidence of relevant changes in forest canopy as a consequence of extreme climate events. The distribution of this effect across the landscape is mediated by lithological substrate, causing patchy patterns. The results also support the hypothesis that recurrent droughts can produce a progressive loss of resilience, by depleting the ability of surviving plants to regenerate. [source] Dementia: an update to refresh your memoryINTERNAL MEDICINE JOURNAL, Issue 11 2002D. Logiudice Abstract The number of people with dementia and cognitive impairment is predicted to rise exponentially in the future. The increasing awareness of dementia in the community has led to a better understanding of the impact of this condition on individuals, their families and their carers. There is burgeoning research in the pathogenesis of dementia, and advances have been made in pharmacological treatments for the management of symptoms, including behavioural and psychological disturbances. However, the mainstay of management rests in comprehensive clinical assessment, education, counselling and provision of support for those affected and their families. The present paper provides a clinical update on recent advances in diagnosis and management of the most common forms of dementia. (Intern Med J 2002; 32: 535,540) [source] Photogalvanic effect in aqueous Methylene blue nickel mesh systems: Conversion of light into electricityINTERNATIONAL JOURNAL OF ENERGY RESEARCH, Issue 3 2001Ilker S. Bayer Abstract The photogalvanic effect in electrochemical cells, employing aqueous Methylene blue and Fe(II)/Fe(III) couple electrolyte and nickel-mesh electrodes, were experimentally investigated. Five different standard H-cell configurations were set-up by modifying the electrolyte. Long-term open-circuit voltage measurements were conducted in order to test the stability of the cells. Light on,off reproducibility experiments were also carried out during lengthy cell operations. By comparing experimental quantum yield with theoretical predictions, it was found that the cells operate on differential electrode kinetics. Oxidation of the illuminated electrode was detected. This affected the current,voltage characteristics of the cells after a sufficiently long cell operation. Schottky junction treatment was used to model the electrolyte,electrode junction. After calculating the ratio between the majority carrier (electron) current density and minority carrier (hole) current density, we concluded that the oxidation of the electrodes contributes positively to the cell performance since the electrode,electrolyte interface shows unipolar Schottky diode characteristics. Copyright © 2001 John Wiley & Sons, Ltd. [source] Schmorl's nodes in a post-medieval skeletal sample from Klostermarienberg, AustriaINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 6 2009Article first published online: 11 NOV 200, H. Üstünda Abstract The prevalence and distribution pattern of Schmorl's nodes (SNs) were studied in a post-medieval skeletal sample (n,=,473) from the 16th,18th century cemetery of Klostermarienberg, Austria. The reasons for the prevalence and distribution pattern of SNs in this sample are discussed with regard to their aetiology. SNs were correlated with age and sex as well as with degenerative spinal joint disease such as vertebral osteophytosis (VO) and apophyseal osteoarthritis (OA). SNs were most commonly found in the lower thoracic region, in agreement with other studies. Males were more affected than females by SNs, especially in the lower thoracic region. SNs show a completely different distribution pattern to VO and OA. Additionally, there was no relationship found between SNs and ageing. Observed differences in the prevalence of SNs in the vertebral column and between the sexes suggest that mechanical factors may be responsible. Copyright © 2008 John Wiley & Sons, Ltd. [source] Spinal pathological findings in ancient Egyptians of the Greco-Roman period living in Bahriyah OasisINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 5 2009F. H. Hussien Abstract The spine can provide a large amount of information about an individual's physical condition and possible lifestyle through palaeopathological investigations. The aim of this research was to study spinal diseases among Greco-Roman ancient Egyptians from Bahriyah Oasis, and to compare them with those from Giza of the Old Kingdom. The material used in the study included 809 single vertebrae and 77 adult sacra of ancient Egyptians from the Greco-Roman period (332,30 BC) that were excavated from Bahriyah Oasis. The spinal elements were examined for pathological conditions, degenerative diseases, trauma, congenital abnormalities, infectious diseases and neoplasms. The most common lesions of the spine were those due to degenerative processes. The articular facets were more affected than the vertebral bodies. Compression fractures of the bodies, mostly due to osteoporosis, were found in 1.44% and 5.07% of thoracic and lumbar vertebrae respectively. The percentage of spina bifida occulta among ancient Egyptians from Bahriyah Oasis was 62.33%, while among those from Giza was only 3.33%. Few cases of lumbar spondylolysis and one case of DISH were recorded. No cases of infectious or neoplastic diseases were found. Copyright © 2008 John Wiley & Sons, Ltd. [source] Relationship between cribra orbitalia and enamel hypoplasia in the early medieval Slavic population at Borovce, SlovakiaINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2008Z. Obertová Abstract Cribra orbitalia and enamel hypoplasia were examined in an early medieval (8th to beginning of 12th century AD) skeletal sample of 451 individuals from Borovce, Slovakia. More than 40% of these individuals died before reaching 20 years of age. The relationship between the occurrence of orbital and enamel lesions was analysed by focusing on the age-specific distribution, and on its influence on demographic parameters. Both features were found in 11.2% of the observed skulls. The presence of orbital and dental lesions showed a considerable impact on mortality as well as the life expectancy. Generally, the highest mortality was observed among 0,4 year old individuals. The greatest discrepancy in the demographic parameters, however, appeared between the affected and unaffected individuals aged 10,14 and 15,19 years. In these two age groups the co-occurrence of both lesions was most frequently recorded. These individuals obviously had a history of sickness, and thus could not cope with further bouts of disease and with the increased physiological demands of pubertal growth. The missing correlation in younger age categories can be largely explained by the difficulty of macroscopically examining the permanent dentition, since an interrelationship between the age at hypoplasia development and the occurrence of cribra orbitalia was detected. Several differences between the individuals with enamel defects and both conditions were observed in the distribution of age at hypoplasia formation. According to these results, several factors, such as impaired health status, growth demands and diet, influence the development of enamel hypoplasia and cribra orbitalia in a particular population. It is possible that after reaching a certain threshold, the underlying factors act synergistically in a kind of vicious cycle as the balance between the immune system, metabolism, and exogenous factors such as pathogens and nutrition, is disturbed. Copyright © 2007 John Wiley & Sons, Ltd. [source] |