Sample records for primary fibrillin defect

  1. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

    Milewicz, D M


    The Marfan syndrome is an autosomal dominant disorder with pleiotropic manifestations that involve the cardiovascular, ocular, and skeletal systems. Through a number of investigational approaches, the gene encoding for fibrillin, the FBN1 gene on chromosome 15, has been identified as the defective gene causing the Marfan syndrome. Fibrillin is the large glycoprotein with a repetitive domain structure and is a major protein component of microfibrils, a fibrillar system closely associated with ...

  2. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

    Milewicz, D M


    The Marfan syndrome is an autosomal dominant disorder with pleiotropic manifestations that involve the cardiovascular, ocular, and skeletal systems. Through a number of investigational approaches, the gene encoding for fibrillin, the FBN1 gene on chromosome 15, has been identified as the defective gene causing the Marfan syndrome. Fibrillin is the large glycoprotein with a repetitive domain structure and is a major protein component of microfibrils, a fibrillar system closely associated with elastin in connective tissue. Mutational analysis of defects in the FBN1 gene in patients with the Marfan syndrome has revealed that most mutations are private or unique in an affected individual or family. Analysis of fibrillin protein or gene defects in individuals with related phenotypes has revealed that a perinatal lethal syndrome, termed neonatal Marfan syndrome, is due to FBN1 gene mutations. In addition, fibroblast cell strains from a subset of patients with idiopathic scoliosis have fibrillin protein defects. Last, fibroblasts from calves affected with bovine Marfan syndrome display defects in the fibrillin protein. These studies have wide-ranging implications in the diagnosis, treatment, and prevention of Marfan syndrome and related disorders. Images PMID:8180508

  3. Abnormal fibrillin metabolism in bovine Marfan syndrome.

    Potter, K. A.; Hoffman, Y.; Sakai, L. Y.; Byers, P. H.; Besser, T. E.; Milewicz, D. M.


    Bovine Marfan syndrome is a disorder that closely resembles human Marfan syndrome in its clinical signs and pathological lesions. The similarities between the human and bovine diseases suggest that similar metabolic defects could be responsible. Although indirect immunofluorescent assays for fibrillin in skin biopsies did not distinguish affected cattle from control animals, cultures of skin fibroblasts of affected animals were distinguished from normal, unrelated control animals and normal half-siblings on the basis of fibrillin staining. After 72 to 96 hours in culture, stained with anti-fibrillin monoclonal antibody 201, hyperconfluent fibroblast cultures of affected cattle had less immunoreactive fibrillin than control cultures, and the staining pattern was granular rather than fibrillar. Under similar culture conditions, normal bovine aortic smooth muscle cells produced large amounts of immunoreactive fibrillin, but smooth muscle cells from a single affected cow showed markedly less fibrillin staining. In pulse-chase metabolic labeling experiments with [35S]cysteine, dermal fibroblasts from 6 affected calves, incorporated far less fibrillin into the extracellular matrix than control cells. These findings are similar to those reported in human Marfan syndrome, and they suggest that the bovine Marfan syndrome, like the human disorder, is caused by a mutation in fibrillin, leading to defective microfibrillar synthesis. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:8456941

  4. Fibrillin: from microfibril assembly to biomechanical function.

    Kielty, Cay M; Baldock, Clair; Lee, David; Rock, Matthew J; Ashworth, Jane L; Shuttleworth, C Adrian


    Fibrillins form the structural framework of a unique and essential class of extracellular microfibrils that endow dynamic connective tissues with long-range elasticity. Their biological importance is emphasized by the linkage of fibrillin mutations to Marfan syndrome and related connective tissue disorders, which are associated with severe cardiovascular, ocular and skeletal defects. These microfibrils have a complex ultrastructure and it has proved a major challenge both to define their structural organization and to relate it to their biological function. However, new approaches have at last begun to reveal important insights into their molecular assembly, structural organization and biomechanical properties. This paper describes the current understanding of the molecular assembly of fibrillin molecules, the alignment of fibrillin molecules within microfibrils and the unique elastomeric properties of microfibrils.

  5. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders

    Aoyama, T.; Furthmayr, H.; Francke, U.; Gasner, C. [Stanford Univ. Medical Center, CA (United States)


    Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormalities in the diagnosis of MFS, we studied dermal fibroblasts from 57 patients with classical MFS, 15 with equivocal MFS, 8 with single-organ manifestations, and 16 with other connective tissue disorders including homocystinuria and Ehlers-Danlos syndrome. Abnormal fibrillin metabolism was identified in 70 samples that were classified into four different groups based on quantitation of fibrillin synthesis and matrix deposition. Significant correlations were found for phenotypic features including arachnodactyly, striae distensae, cardiovascular manifestations, and fibrillin groups II and IV, which included 70% of the MFS patients. In addition, these two groups were associated with shortened {open_quotes}event-free{close_quotes} survival and more severe cardiovascular complications than groups I and III. The latter included most of the equivocal MFS/single manifestation patients with fibrillin abnormalities. Our results indicate that fibrillin defects at the protein level per se are not specific for MFS, but that the drastically reduced fibrillin deposition, caused by a dominant-negative effect of abnormal fibrillin molecules in individuals defined as groups II and IV, is of prognostic and possibly diagnostic significance. 25 refs., 3 figs., 6 tabs.


    Betti Giusti


    Full Text Available Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last years, studies on structure and function of elastic fibres in tendons have been performed. Aim of this review is to revise data on the organization of elastic fibres in tendons, in particular fibrillin structure and function, and on the clinical manifestations associated to alterations of elastic fibres in tendons. Indeed, microfibrils may contribute to tendon mechanics; therefore, their alterations may cause joint hypermobility and contractures which have been found to be clinical features in patients with Marfan syndrome and Beals syndrome. The two diseases are caused by mutations in genes FBN1 and FBN2 encoding fibrillin 1 and fibrillin 2, respectively.

  7. Fibrillin microfibrils in bone physiology.

    Smaldone, Silvia; Ramirez, Francesco


    The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in spite of representing a low abundance component of skeletal matrices. Studies of MFS and CCA mice have correlated the skeletal phenotypes of these mutant animals with distinct pathophysiological mechanisms that reflect the contextual contribution of fibrillin-1 and -2 scaffolds to TGFβ and BMP signaling during bone patterning, growth and metabolism. Illustrative examples include the unique role of fibrillin-2 in regulating BMP-dependent limb patterning and the distinct impact of the two fibrillin proteins on the commitment and differentiation of marrow mesenchymal stem cells. Collectively, these findings have important implication for our understanding of the pathophysiological mechanisms that drive age- and injury-related processes of bone degeneration.

  8. Microenvironmental regulation by fibrillin-1.

    Gerhard Sengle


    Full Text Available Fibrillin-1 is a ubiquitous extracellular matrix molecule that sequesters latent growth factor complexes. A role for fibrillin-1 in specifying tissue microenvironments has not been elucidated, even though the concept that fibrillin-1 provides extracellular control of growth factor signaling is currently appreciated. Mutations in FBN1 are mainly responsible for the Marfan syndrome (MFS, recognized by its pleiotropic clinical features including tall stature and arachnodactyly, aortic dilatation and dissection, and ectopia lentis. Each of the many different mutations in FBN1 known to cause MFS must lead to similar clinical features through common mechanisms, proceeding principally through the activation of TGFβ signaling. Here we show that a novel FBN1 mutation in a family with Weill-Marchesani syndrome (WMS causes thick skin, short stature, and brachydactyly when replicated in mice. WMS mice confirm that this mutation does not cause MFS. The mutation deletes three domains in fibrillin-1, abolishing a binding site utilized by ADAMTSLIKE-2, -3, -6, and papilin. Our results place these ADAMTSLIKE proteins in a molecular pathway involving fibrillin-1 and ADAMTS-10. Investigations of microfibril ultrastructure in WMS humans and mice demonstrate that modulation of the fibrillin microfibril scaffold can influence local tissue microenvironments and link fibrillin-1 function to skin homeostasis and the regulation of dermal collagen production. Hence, pathogenetic mechanisms caused by dysregulated WMS microenvironments diverge from Marfan pathogenetic mechanisms, which lead to broad activation of TGFβ signaling in multiple tissues. We conclude that local tissue-specific microenvironments, affected in WMS, are maintained by a fibrillin-1 microfibril scaffold, modulated by ADAMTSLIKE proteins in concert with ADAMTS enzymes.

  9. Abnormal secretion or extracellular matrix incorporation of fibrillin by dermal fibroblasts from patients with thoracic aortic aneurysms

    Milewicz, D.; Cao, S.; Cosselli, J. [Univ. of Texas Medical School, Houston, TX (United States)


    Abnormal synthesis, secretion, and extracellular matrix incorporation of fibrillin is observed in the majority of fibroblast cell strains obtained from individuals with the Marfan syndrome (>85%). These fibrillin protein abnormalities are due to mutations in the FBN1 gene. We have screened fibroblast cell strains from patients with thoracic aortic aneurysms (TAA) without skeletal or ocular features of the Marfan syndrome for defects in fibrillin synthesis or processing. Dermal fibroblasts obtained from biopsies were pulse labeled with [{sup 35}S]cysteine for 30 minutes and then chased for 0, 4, and 20 hours. The media, cell lysate and extracellular matrix were harvested separately, then analyzed by SDS-PAGE. We selected fibroblasts from 17 TAA patients to study based on the development of a TAA at a young age or a family history of TAAs. Cells from 3 patients synthesized and secreted fibrillin normally, but did not incorporate the fibrillin in the extracellular matrix. None of the cell strains were found to have diminished synthesis of fibrillin when compared with control cells. We were unable to detect abnormalities in the synthesis, secretion, or matrix incorporation of fibrillin by cells from 9 of the 17 patients. These results indicate that fibrillin protein defects are found in a significant number of patients with TAAs who are young or have a family history of TAAs. Analysis of the FBN1 gene for mutations in these patients with fibrillin protein defects will determine if the observed protein abnormalities are the result of FBN1 gene mutations.

  10. Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3'fibrillin-1 gene mutations with phenotype

    GAO Ling-gen; ZHANG Lin; SONG Lei; WANG Hu; CHANG Qian; WU Yong-bo; HUI Ru-tai; ZHOU Xian-liang


    Background Mutations in the fibrillin-1 gene have been identified in patients with Marfan syndrome (MFS). This study aimed to identify the molecular defects in the fibrillin-1 gene in a Chinese family with Marfan syndrome, accompanied by aortic aneurysms/dissection.Methods Two patients and one non-carrier in the family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family as well as 50 healthy normal controls. Polymerase chain reaction amplification and direct sequencing of all 65 coding exons of fibrillin-1 gene were analyzed.Results We found a novel mutation (c.8547T>G, p. Tyr2849X) in exon 65 of fibrillin-1 gene in a Chinese proband with Marfan syndrome, accompanied by aortic aneurysms/dissection. Sudden death at a young age of affected members was seen due to aortic aneurysms/dissection. By evaluating genotype-phenotype correlations of patients with mutations in the 3'end of fibrillin-1 gene (exons 64 and 65), we also found that the presence of nonsense mutations occurring in exons 64 and 65 appeared to be an indicator of early-onset aortic risk and sudden death.Conclusions These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.

  11. Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.

    Zeyer, Karina A; Reinhardt, Dieter P


    Fibrillins are the major components of microfibrils in the extracellular matrix of elastic and non-elastic tissues. They are multi-domain proteins, containing primarily calcium binding epidermal growth factor-like (cbEGF) domains and 8-cysteine/transforming growth factor-beta binding protein-like (TB) domains. Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and other organ systems. Here, we review the consequences of engineered Marfan syndrome mutations in fibrillin-1 at the protein, cellular and organismal levels. Representative point mutations associated with Marfan syndrome in affected individuals have been introduced and analyzed in recombinant fibrillin-1 fragments. Those mutations affect fibrillin-1 on a structural and functional level. Mutations which impair folding of cbEGF domains can affect protein trafficking. Protein folding disrupted by some mutations can lead to defective secretion in mutant fibrillin-1 fragments, whereas fragments with other Marfan mutations are secreted normally. Many Marfan mutations render fibrillin-1 more susceptible to proteolysis. There is also evidence that some mutations affect heparin binding. Few mutations have been further analyzed in mouse models. An extensively studied mouse model of Marfan syndrome expresses mouse fibrillin-1 with a missense mutation (p.C1039G). The mice display similar characteristics to human patients with Marfan syndrome. Overall, the analyses of engineered mutations leading to Marfan syndrome provide important insights into the pathogenic molecular mechanisms exerted by mutated fibrillin-1.

  12. Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development.

    Kira-Tatsuoka, M; Oka, K; Tsuruga, E; Ozaki, M; Sawa, Y


    Oxytalan fibers are categorized as a microfibril assembly without elastin deposition, and are unique components in the periodontal ligament (PDL). However, little is known about their formation during PDL development. To clarify the mechanisms of oxytalan fiber formation in developing PDL, we performed immunohistochemical analysis to detect the direct expression of fibrillin-1 and fibrillin-2, which are major components of microfibrils. Frozen sections of lower molars from mice at several stages of growth were prepared without chemical fixation and decalcification using the film transfer method. Immunostaining was performed with anti-fibrillin-1 and -2, and anticytokeratin antibodies. Fibrillin-1 was not expressed in the dental follicle during the crown forming stage. At postneonatal day 9, fibrillin-1 expression started with meshwork appearance between the epithelial cells from Hertwig's epithelial root sheath at the root dentin surface. Fibirillin-2 was detected much earlier than fibrillin-1 expression. Fibrillin-2 was expressed with a liner appearance, running parallel to the root axis in PDL, and was partially co-expressed with cytokeratin 14 expression in Hertwig's epithelial root sheath. Furthermore, we detected both fibrillin-1 and fibrillin-2 expression in human PDL. Fibrillin-1 was detected in fibers with a vertically oriented root axis in PDL. Fibrillin-2 was widely expressed in PDL, including around the epithelial cell rests of Malassez. Fibrillin-1 and fibrillin-2 were clearly co-expressed in thick fiber structures in human PDL. Our results suggest that both fibrillin-1 and fibrillin-2 expression is required to form thick oxytalan fibers in PDL. Based on the expression patterns for fibrillin-1 and fibrillin-2, they have different functions during tooth root and PDL development. Early expression of fibrillin-2 may regulate dental epithelial cell behavior during root and PDL development. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

    Stuart A Cain

    Full Text Available The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature. This is in contrast to mutations within a heparin-binding TB domain (TB5, which is downstream of the arg-gly-asp cell adhesion domain, which can cause Weill-Marchesani syndrome (WMS or Acromicric (AD and Geleophysic Dysplasias (GD. WMS is characterized by short limbs, joint stiffness and ocular defects, whilst fibrillin-1 AD and GD have severe short stature, joint defects and thickened skin. We previously showed that TB5 binds heparin. Here, we show that the corresponding region of fibrillin-2 binds heparin very poorly, highlighting a novel functional difference between the two isoforms. This finding enabled us to map heparin/heparan sulfate binding to two sites on fibrillin-1 TB5 using a mutagenesis approach. Once these sites were mapped, we were able to investigate whether disease-causing mutations in this domain disrupt binding to HS. We show that a WMS deletion mutant, and five AD and GD point mutants all have disrupted heparin binding to TB5. These data provide insights into the biology of fibrillins and the pathologies of WMS, AD and GD.

  14. Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.

    Ashworth, J L; Murphy, G; Rock, M J; Sherratt, M J; Shapiro, S D; Shuttleworth, C A; Kielty, C M


    Fibrillin is the principal structural component of the 10-12 nm diameter elastic microfibrils of the extracellular matrix. We have previously shown that both fibrillin molecules and assembled microfibrils are susceptible to degradation by serine proteases. In this study, we have investigated the potential catabolic effects of six matrix metalloproteinases (MMP-2, MMP-3, MMP-9, MMP-12, MMP-13 and MMP-14) on fibrillin molecules and on intact fibrillin-rich microfibrils isolated from ciliary zonules. Using newly synthesized recombinant fibrillin molecules, major cleavage sites within fibrillin-1 were identified. In particular, the six different MMPs generated a major degradation product of approximately 45 kDa from the N-terminal region of the molecule, whereas treatment of truncated, unprocessed and furin-processed C-termini also generated large degradation products. Introduction of a single ectopia lentis-causing amino acid substitution (E2447K; one-letter symbols for amino acids) in a calcium-binding epidermal growth factor-like domain, predicted to disrupt calcium binding, markedly altered the pattern of C-terminal fibrillin-1 degradation. However, the fragmentation pattern of a mutant fibrillin-1 with a comparable E-->K substitution in an upstream calcium-binding epidermal growth factor-like domain was indistinguishable from wild-type molecules. Ultrastructural examination highlighted that fibrillin-rich microfibrils isolated from ciliary zonules were grossly disrupted by MMPs. This is the first demonstration that fibrillin molecules and fibrillin-rich microfibrils are degraded by MMPs and that certain amino acid substitutions change the fragmentation patterns. These studies have important implications for physiological and pathological fibrillin catabolism and for loss of connective tissue elasticity in ageing and disease.

  15. The evolution of extracellular fibrillins and their functional domains.

    Adam Piha-Gossack

    Full Text Available Fibrillins constitute the major backbone of multifunctional microfibrils in elastic and non-elastic extracellular matrices, and are known to interact with several binding partners including tropoelastin and integrins. Here, we study the evolution of fibrillin proteins. Following sequence collection from 39 organisms representative of the major evolutionary groups, molecular evolutionary genetics and phylogeny inference software were used to generate a series of evolutionary trees using distance-based and maximum likelihood methods. The resulting trees support the concept of gene duplication as a means of generating the three vertebrate fibrillins. Beginning with a single fibrillin sequence found in invertebrates and jawless fish, a gene duplication event, which coincides with the appearance of elastin, led to the creation of two genes. One of the genes significantly evolved to become the gene for present-day fibrillin-1, while the other underwent evolutionary changes, including a second duplication, to produce present-day fibrillin-2 and fibrillin-3. Detailed analysis of several sequences and domains within the fibrillins reveals distinct similarities and differences across various species. The RGD integrin-binding site in TB4 of all fibrillins is conserved in cephalochordates and vertebrates, while the integrin-binding site within cbEGF18 of fibrillin-3 is a recent evolutionary change. The proline-rich domain in fibrillin-1, glycine-rich domain in fibrillin-2 and proline-/glycine-rich domain in fibrillin-3 are found in all analyzed tetrapod species, whereas it is completely replaced with an EGF-like domain in cnidarians, arthropods, molluscs and urochordates. All collected sequences contain the first 9-cysteine hybrid domain, and the second 8-cysteine hybrid domain with exception of arthropods containing an atypical 10-cysteine hybrid domain 2. Furin cleavage sites within the N- and C-terminal unique domains were found for all analyzed

  16. Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

    Olivieri Jacopo


    Full Text Available Abstract The extracellular matrix (ECM plays a key role in tissue formation, homeostasis and repair, mutations in ECM components have catastrophic consequences for organ function and therefore, for the fitness and survival of the organism. Collagen, fibrillin and elastin polymers represent the architectural scaffolds that impart specific mechanic properties to tissues and organs. Fibrillin assemblies (microfibrils have the additional function of distributing, concentrating and modulating local transforming growth factor (TGF-β and bone morphogenetic protein (BMP signals that regulate a plethora of cellular activities, including ECM formation and remodeling. Fibrillins also contain binding sites for integrin receptors, which induce adaptive responses to changes in the extracellular microenvironment by reorganizing the cytoskeleton, controlling gene expression, and releasing and activating matrix-bound latent TGF-β complexes. Genetic evidence has indicated that fibrillin-1 and fibrillin-2 contribute differently to the organization and structural properties of non-collagenous architectural scaffolds, which in turn translate into discrete regulatory outcomes of locally released TGF-β and BMP signals. Additionally, the study of congenital dysfunctions of fibrillin-1 has yielded insights into the pathogenesis of acquired connective tissue disorders of the connective tissue, such as scleroderma. On the one hand, mutations that affect the structure or expression of fibrillin-1 perturb microfibril biogenesis, stimulate improper latent TGF-β activation, and give rise to the pleiotropic manifestations in Marfan syndrome (MFS. On the other hand, mutations located around the integrin-binding site of fibrillin-1 perturb cell matrix interactions, architectural matrix assembly and extracellular distribution of latent TGF-β complexes, and lead to the highly restricted fibrotic phenotype of Stiff Skin syndrome. Understanding the molecular similarities and

  17. [Folic acid: Primary prevention of neural tube defects. Literature Review].

    Llamas Centeno, M J; Miguélez Lago, C


    Neural tube defects (NTD) are the most common congenital malformations of the nervous system, they have a multifactorial etiology, are caused by exposure to chemical, physical or biological toxic agents, factors deficiency, diabetes, obesity, hyperthermia, genetic alterations and unknown causes. Some of these factors are associated with malnutrition by interfering with the folic acid metabolic pathway, the vitamin responsible for neural tube closure. Its deficit produce anomalies that can cause abortions, stillbirths or newborn serious injuries that cause disability, impaired quality of life and require expensive treatments to try to alleviate in some way the alterations produced in the embryo. Folic acid deficiency is considered the ultimate cause of the production of neural tube defects, it is clear the reduction in the incidence of Espina Bifida after administration of folic acid before conception, this leads us to want to further study the action of folic acid and its application in the primary prevention of neural tube defects. More than 40 countries have made the fortification of flour with folate, achieving encouraging data of decrease in the prevalence of neural tube defects. This paper attempts to make a literature review, which clarify the current situation and future of the prevention of neural tube defects.

  18. Fibrillin-1 microfibrils influence adult bone marrow hematopoiesis.

    Smaldone, Silvia; Bigarella, Carolina L; Del Solar, Maria; Ghaffari, Saghi; Ramirez, Francesco


    We have recently demonstrated that fibrillin-1 assemblies regulate the fate of skeletal stem cells (aka, mesenchymal stem cells [MSCs]) by modulating TGFβ activity within the microenvironment of adult bone marrow niches. Since MSCs can also influence hematopoietic stem cell (HSC) activities, here we investigated adult hematopoiesis in mice with Cre-mediated inactivation of the fibrillin-1 (Fbn1) gene in the mesenchyme of the forming limbs (Fbn1(Prx1-/-) mice). Analyses of 3-month-old Fbn1(Prx1-/-) mice revealed a statistically significant increase of circulating red blood cells, which a differentiation assay correlated with augmented erythropoiesis. This finding, together with evidence of fibrillin-1 deposition in erythroblastic niches, supported the notion that this extracellular matrix protein normally restricts differentiation of erythroid progenitors. Whereas flow cytometry measurements identified a decreased HSC frequency in mutant relative to wild type mice, no appreciable differences were noted with regard to the relative abundance and differentiation potential of myeloid progenitor cells. Together these findings implied that fibrillin-1 normally promotes HSC expansion but does not influence cell lineage commitment. Since local TGFβ hyperactivity has been associated with abnormal osteogenesis in Fbn1(Prx1-/-) mice, 1-month-old mutant and wild type animals were systemically treated for 8weeks with either a pan-TGF-β-neutralizing antibody or an antibody of the same IgG1 isotype. The distinct outcomes of these pharmacological interventions strongly suggest that fibrillin-1 differentially modulates TGFβ activity in HSC vs. erythroid niches.

  19. The primary prevention of birth defects: Multivitamins or folic acid?


    Full Text Available Periconceptional use of folic acid alone or in multivitamin supplements is effective for the primary prevention of neural-tube defects. The Hungarian randomized and two-cohort controlled trials showed that periconceptional multivitamin supplementation can reduce the occurrence of some other structural birth defects, i.e. congenital abnormalities. These findings were supported by many, but not all observational studies. Recently there have been two main debated questions. The first one is whether the use of folic acid alone or folic acid-containing multivitamins is better. The second one is connected with the dilemma of whether high dose of folic acid (e.g. 5 mg might be better than a daily multivitamin with 0.4 – 0.8 mg of folic acid. Comparison of the pooled data of two Hungarian trials using a multivitamin containing 0.8 mg folic acid and the data of the Hungarian Case-Control Surveillance of Congenital Abnormalities using high dose of folic acid seemed to be appropriate to answer these questions. Multivitamins containing 0.4 – 0.8 mg of folic acid were more effective for the reduction of neural-tube defects than high dose of folic acid. Both multivitamins and folic acid can prevent some part of congenital cardiovascular malformations. Only multivitamins were able to reduce the prevalence at birth of obstructive defects of urinary tract, limb deficiencies and congenital pyloric stenosis. However, folic acid was effective in preventing some part of rectal/anal stenosis/atresia, and high dose of folic acid had effect in preventing some orofacial clefts. The findings are consistent that periconceptional multivitamin and folic acid supplementation reduce the overall occurrence of congenital abnormalities in addition to the demonstrated effect on neural-tube defects.

  20. Badly engineered fibrillin lessons from molecular studies of marfan syndrome.

    Rantamäki, T; Karttunen, L; Peltonen, L


    Marfan syndrome (MFS) is one of the most common inherited connective tissue disorders that severely affects the cardiovascular system. Mutations in the gene encoding fibrillin-1 (FBN1) have been shown to cause MFS as well as dominant ectopia lentis and neonatal Marfan syndrome. Fibrillin-1 is the major component of elastic fiber microfibrils in the extracellular matrix of connective tissue. Recent molecular studies have brought some light into understanding the pathogenesis of MFS, but the diagnostic problems still prevail, and targeted therapy of MFS must await better dissection of the role of fibrillin-1 in tissue phenotype using different experimental systems. (Trends Cardiovasc Med 1997;7:282-288). © 1997, Elsevier Science Inc.

  1. Folic acid and primary prevention of birth defects.

    Taruscio, Domenica; Carbone, Pietro; Granata, Orietta; Baldi, Francesca; Mantovani, Alberto


    Birth defects (BDs) are an important public health problem, due to their overall incidence, occurring in 2-3% of live births in European Union. Neural tube defects (NTDs) are among major NTDs, due to their severity and relatively high incidence; in the meanwhile NTDs are also the most effectively preventable BDs to date. In particular, an adequate folic acid (FA) intake reduces both the occurrence and the recurrence of NTDs; FA is the synthetic form of folates, naturally occurring vitamins in a number of foods, especially vegetables. The daily intake of 0.4 mg of FA should be recommended to all women of childbearing age who plan to become pregnant. The Italian Network for Primary Prevention of BDs through FA Promotion has achieved a significant improvement in FA awareness and use in the periconceptional period. Nevertheless, primary prevention of BDs needs to make further progress; the Italian National Centre for Rare Diseases participates in european sureveillance of congenital anomalies (EUROCAT) Joint Action as coordinator of activities on the effectiveness of BDs prevention. Mandatory food fortification with FA has not been introduced in any European country. The health benefits of FA in reducing the risk of NTDs are undisputed; however mechanistic and animal studies suggest a relationship between high FA intakes and increased cancer promotion, while human studies are still inconsistent and inconclusive. A Working Group organized by the European Food Safety Authority pointed out significant uncertainties about fortification safety and the need for more studies; currently, FA intake from fortified foods and supplements should not exceed 1 mg/day in adults. In conclusion, based on up-to-date scientific evidence, the Italian Network strategy pivots on periconceptional supplementation integrated with promotion of healthy eating habits, support to health education, enhancing the role of women in managing life choices about their health and pregnancy and increasing

  2. Gremlin-1 associates with fibrillin microfibrils in vivo and regulates mesothelioma cell survival through transcription factor slug

    Tamminen, J A; Parviainen, V; Rönty, M; Wohl, A P; Murray, L; Joenväärä, S; Varjosalo, M; Leppäranta, O; Ritvos, O; Sengle, G; Renkonen, R; Myllärniemi, M; Koli, K


    Malignant mesothelioma is a form of cancer that is highly resistant to conventional cancer therapy for which no major therapeutic advances have been introduced. Here, we identify gremlin-1, a known bone morphogenetic protein inhibitor crucial for embryonic development, as a potential therapeutic target for mesothelioma. We found high expression levels of gremlin-1 in the mesothelioma tumor tissue, as well as in primary mesothelioma cells cultured from pleural effusion samples. Downregulation of gremlin-1 expression by siRNA-mediated silencing in a mesothelioma cell line inhibited cell proliferation. This was associated with downregulation of the transcription factor slug as well as mesenchymal proteins linked to cancer epithelial-to-mesenchymal transition. Further, resistance to paclitaxel-induced cell death was associated with high gremlin-1 and slug expression. Treatment of gremlin-1-silenced mesothelioma cells with paclitaxel or pemetrexed resulted in efficient loss of cell survival. Finally, our data suggest that concomitant upregulation of fibrillin-2 in mesothelioma provides a mechanism for extracellular localization of gremlin-1 to the tumor microenvironment. This was supported by the demonstration of interactions between gremlin-1, and fibrillin-1 and -2 peptides as well as by colocalization of gremlin-1 to fibrillin microfibrils in cells and tumor tissue samples. Our data suggest that gremlin-1 is also a potential target for overcoming drug resistance in mesothelioma. PMID:23978876

  3. Fibrillin microfibrils are reduced in skin exhibiting striae distensae.

    Watson, R E; Parry, E J; Humphries, J D; Jones, C J; Polson, D W; Kielty, C M; Griffiths, C E


    Striae distensae (striae: stretch marks) are a common disfiguring condition associated with continuous and progressive stretching of the skin--as occurs during pregnancy. The pathogenesis of striae is unknown but probably relates to changes in those structures that provide skin with its tensile strength and elasticity. Such structures are components of the extracellular matrix, including fibrillin, elastin and collagens. Using a variety of histological techniques, we assessed the distribution of these extracellular matrix components in skin affected by striae. Pregnant women were assessed for the presence of striae, and punch biopsies were obtained from lesional striae and adjacent normal skin. Biopsies were processed for electron microscopy, light microscopy and immunohistochemistry. For histological examination, 7 microns frozen sections were stained so as to identify the elastic fibre network and glycosaminoglycans. Biopsies were also examined with a panel of polyclonal antibodies against collagens I and III, and fibrillin and elastin. Ultrastructural analysis revealed alterations in the appearance of skin affected by striae compared with that of normal skin in that the dermal matrix of striae was looser and more floccular. Light microscopy revealed an increase in glycosaminoglycan content in striae. Furthermore, the number of vertical fibrillin fibres subjacent to the dermal-epidermal junction (DEJ) and elastin fibres in the papillary dermis was significantly reduced in striae compared with normal skin. The orientation of elastin and fibrillin fibres in the deep dermis showed realignment in that the fibres ran parallel to the DEJ. However, no significant alterations were observed in any other extracellular matrix components. This study identifies a reorganization and diminution of the elastic fibre network of skin affected by striae. Continuous strain on the dermal extracellular matrix, as occurs during pregnancy, may remodel the elastic fibre network in

  4. Heparan sulfate regulates fibrillin-1 N- and C-terminal interactions

    Cain, Stuart A; Baldwin, Andrew K; Mahalingam, Yashithra;


    in response to soluble PF1. Within domains encoded by exons 59-62 near the fibrillin-1 C terminus are novel conformation-dependent high affinity heparin and tropoelastin binding sites. Heparin disrupted tropoelastin binding but did not disrupt N- and C-terminal fibrillin-1 interactions. Thus, fibrillin-1 N......-terminal interactions with heparin/heparan sulfate directly influence cell behavior, whereas C-terminal interactions with heparin/heparan sulfate regulate elastin deposition. These data highlight how heparin/heparan sulfate controls fibrillin-1 interactions....

  5. Developmental enamel defects in the primary dentition: aetiology and clinical management

    Salanitri, S; Seow, WK


    ...‐ and postnatal environment. The presence of enamel hypoplasia increases the risk of primary teeth to early childhood caries and tooth wear as the defective enamel is thinner, more plaque retentive and less resistant...

  6. Fibrillin-1 genotype and risk of prevalent hypertension

    Jeppesen, Jørgen; Torp-Pedersen, Christian; Hansen, Tine W;


    Objective. Mutations in the fibrillin-1 gene are the cause of Marfan syndrome. We wanted to investigate the relationship between a mutation in this gene and risk of prevalent hypertension. Methods. In a cross-sectional study, the effect of a G-A substitution in intron 27 in the fibrillin-1 gene (rs......11856553) on risk of prevalent hypertension was studied in two large population-based studies: the Health 2006 study, consisting of 3193 women and men, age 18-69 years, and the MONICA10 study, consisting of 2408 women and men, age 41-72 years. In 1646 MONICA10 participants, blood pressure (BP) was also...... measured by 24-h ambulatory recordings. Results. Among the 3193 Health 2006 participants 23 had the G-A variant, and among the 2408 MONICA10 participants 18 had the G-A variant. In Health 2006, the odds ratio estimate (95% confidence intervals) for the G-A variant for risk of hypertension, defined...

  7. The effects of self-interstitial clusters on cascade defect evolution beyond the primary damage state

    Heinisch, H.L. [Pacific Northwest National Lab., Richland, WA (United States)


    The intracascade evolution of the defect distributions of cascades in copper is investigated using stochastic annealing simulations applied to cascades generated with molecular dynamics (MD). The temperature and energy dependencies of annihilation, clustering and free defect production are determined for individual cascades. The annealing simulation results illustrate the strong influence on intracascade evolution of the defect configuration existing in the primary damage state. Another factor significantly affecting the evolution of the defect distribution is the rapid one-dimensional diffusion of small, glissile interstitial loops produced directly in cascades. This phenomenon introduces a cascade energy dependence of defect evolution that is apparent only beyond the primary damage state, amplifying the need for further study of the annealing phase of cascade evolution and for performing many more MD cascade simulations at higher energies.

  8. Interproximal contact hypoplasia in primary teeth: A new enamel defect with anthropological and clinical relevance.

    Lukacs, John R.


    This study reports the prevalence, distribution, and expression of enamel defects in a sample of primary teeth (n = 225) from a prehistoric site in western India (1400-700 BC). Five enamel surfaces of individual, isolated primary teeth were observed for surface defects using a binocular stereomicroscope with variable power of magnification (8-20x). Standards for evaluating dental enamel defects (DDE) recommended by the Fédération Dentaire International (FDI) were employed. Details of defect expression were also recorded, including size, shape, and surface of tooth crown affected. Hypoplastic enamel defects were observed in 28% of teeth, but the distribution and expression of defects was not random. More than 50% of canine teeth had hypoplastic defects (HD); incisors and molar teeth exhibited far fewer HD. The buccal surface of canines was the most commonly affected crown surface. Areas of missing enamel were also common on the mesial and distal surfaces of canines and incisors and on the mesial surface of molar teeth. The high frequency of enamel defects found on interproximal crown surfaces warrants a label, and the name interproximal contact hypoplasia (IPCH) is proposed. Linear enamel hypoplasia (LEH) was absent from this primary dental sample. IPCH is more frequent in mandibular than in maxillary teeth, but no side preference was detected. In canine teeth, buccal hypoplasias (localized hypoplasia of primary canines; LHPC) were not positively correlated with interproximal hypoplastic defects. The etiology of IPCH may involve mesial compaction of developing teeth due to slow longitudinal growth of the jaws. Episodic bone remodeling results in ephemeral fenestrae in the mesial and distal walls of the dental crypt permitting tooth-tooth contact and disruption of amelogenesis. IPCH prevalence decreases across the subsistence transition from sedentary Early Jorwe agriculturalists to seminomadic Late Jorwe hunters and foragers, but the difference is not

  9. Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins.

    Halper, Jaroslava; Kjaer, Michael


    Collagens are the most abundant components of the extracellular matrix and many types of soft tissues. Elastin is another major component of certain soft tissues, such as arterial walls and ligaments. Many other molecules, though lower in quantity, function as essential components of the extracellular matrix in soft tissues. Some of these are reviewed in this chapter. Besides their basic structure, biochemistry and physiology, their roles in disorders of soft tissues are discussed only briefly as most chapters in this volume deal with relevant individual compounds. Fibronectin with its muldomain structure plays a role of "master organizer" in matrix assembly as it forms a bridge between cell surface receptors, e.g., integrins, and compounds such collagen, proteoglycans and other focal adhesion molecules. It also plays an essential role in the assembly of fibrillin-1 into a structured network. Laminins contribute to the structure of the extracellular matrix (ECM) and modulate cellular functions such as adhesion, differentiation, migration, stability of phenotype, and resistance towards apoptosis. Though the primary role of fibrinogen is in clot formation, after conversion to fibrin by thrombin, it also binds to a variety of compounds, particularly to various growth factors, and as such fibrinogen is a player in cardiovascular and extracellular matrix physiology. Elastin, an insoluble polymer of the monomeric soluble precursor tropoelastin, is the main component of elastic fibers in matrix tissue where it provides elastic recoil and resilience to a variety of connective tissues, e.g., aorta and ligaments. Elastic fibers regulate activity of TGFβs through their association with fibrillin microfibrils. Elastin also plays a role in cell adhesion, cell migration, and has the ability to participate in cell signaling. Mutations in the elastin gene lead to cutis laxa. Fibrillins represent the predominant core of the microfibrils in elastic as well as non

  10. Lamina cribrosa defects and optic disc morphology in primary open angle glaucoma with high myopia.

    Yugo Kimura

    Full Text Available PURPOSE: To investigate whether lamina cribrosa (LC defects are associated with optic disc morphology in primary open angle glaucoma (POAG eyes with high myopia. METHODS: A total of 129 POAG patients and 55 age-matched control subjects with high myopia were evaluated. Three-dimensional scan images obtained by swept source optical coherence tomography were used to detect LC defects. Radial B-scans and infrared images obtained by spectral domain optical coherence tomography were used to measure β-peripapillary atrophy (PPA lengths with and without Bruch's membrane (BM (temporal, nasal, superior, and inferior, tilt angle (vertical and horizontal, and disc diameter (transverse and longitudinal. Peripapillary intrachoroidal cavitations (PICCs, disc area, ovality index, and cyclotorsion of the optic disc were analyzed as well. RESULTS: LC defects were found in 70 of 129 (54.2% POAG eyes and 1 of 55 (1.8% control eyes (P < 0.001. Age, sex, spherical equivalent, axial length, intraocular pressure, and central corneal thickness were not significantly different among POAG eyes with LC defects, POAG eyes without LC defects, and control eyes. Temporal PPA lengths without BM in all three groups correlated significantly with vertical and horizontal tilt angles, although no PPA length with BM correlated significantly with any tilt angle. PICCs were detected more frequently in POAG eyes with LC defects than those without LC defects (P = 0.01 and control eyes (P = 0.02. POAG eyes with LC defects showed a smaller ovality index (P = 0.004, longer temporal PPA without BM (P < 0.001, and larger vertical/horizontal tilt angles (vertical, P < 0.001; horizontal, P = 0.01, and transverse diameter (P = 0.01. In multivariate analysis for the presence of LC defects, presence of POAG (P < 0.001 and vertical tilt angle (P < 0.001 were identified as significant. CONCLUSIONS: The presence of LC defects was associated with myopic optic disc morphology in POAG eyes with high

  11. Primary prevention of neural tube defects: data from the portuguese national registry of congenital anomalies (RENAC)

    Braz, Paula; Machado, Ausenda; Matias Dias, Carlos


    Background: In Portugal folic acid supplementation is recommended to start at least 2-3 months before conception for primary prevention of Neural Tube Defects. The aim of this study was to evaluate, within gestations with at least one congenital anomaly, possible association between maternal socio-demographic factors and the use of folic acid. Methods: Using data from the Portuguese national registry of congenital anomalies, for the 2004-2013 period, the association between folic acid use dur...

  12. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

    Frommer, Adrien; Hjeij, Rim; Loges, Niki T; Edelbusch, Christine; Jahnke, Charlotte; Raidt, Johanna; Werner, Claudius; Wallmeier, Julia; Große-Onnebrink, Jörg; Olbrich, Heike; Cindrić, Sandra; Jaspers, Martine; Boon, Mieke; Memari, Yasin; Durbin, Richard; Kolb-Kokocinski, Anja; Sauer, Sascha; Marthin, June K; Nielsen, Kim G; Amirav, Israel; Elias, Nael; Kerem, Eitan; Shoseyov, David; Haeffner, Karsten; Omran, Heymut


    Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by defective radial spoke (RS) heads are difficult to diagnose owing to lack of gross ultrastructural defects and absence of situs inversus. Thus far, most mutations identified in human radial spoke genes (RSPH) are loss-of-function mutations, and missense variants have been rarely described. We studied the consequences of different RSPH9, RSPH4A, and RSPH1 mutations on the assembly of the RS complex to improve diagnostics in PCD. We report 21 individuals with PCD (16 families) with biallelic mutations in RSPH9, RSPH4A, and RSPH1, including seven novel mutations comprising missense variants, and performed high-resolution immunofluorescence analysis of human respiratory cilia. Missense variants are frequent genetic defects in PCD with RS defects. Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9. RSPH1 mutant cilia, lacking RSPH1, fail to assemble RSPH9, whereas RSPH9 mutations result in axonemal absence of RSPH9, but do not affect the assembly of the other head proteins, RSPH1 and RSPH4A. Interestingly, our results were identical in individuals carrying loss-of-function mutations, missense variants, or one amino acid deletion. Immunofluorescence analysis can improve diagnosis of PCD in patients with loss-of-function mutations as well as missense variants. RSPH4A is the core protein of the RS head.

  13. Primary ciliogenesis defects are associated with human astrocytoma/glioblastoma cells

    Rattner Jerome B


    Full Text Available Abstract Background Primary cilia are non-motile sensory cytoplasmic organelles that have been implicated in signal transduction, cell to cell communication, left and right pattern embryonic development, sensation of fluid flow, regulation of calcium levels, mechanosensation, growth factor signaling and cell cycle progression. Defects in the formation and/or function of these structures underlie a variety of human diseases such as Alström, Bardet-Biedl, Joubert, Meckel-Gruber and oral-facial-digital type 1 syndromes. The expression and function of primary cilia in cancer cells has now become a focus of attention but has not been studied in astrocytomas/glioblastomas. To begin to address this issue, we compared the structure and expression of primary cilia in a normal human astrocyte cell line with five human astrocytoma/glioblastoma cell lines. Methods Cultured normal human astrocytes and five human astrocytoma/glioblastoma cell lines were examined for primary cilia expression and structure using indirect immunofluorescence and electron microscopy. Monospecific antibodies were used to detect primary cilia and map the relationship between the primary cilia region and sites of endocytosis. Results We show that expression of primary cilia in normal astrocytes is cell cycle related and the primary cilium extends through the cell within a unique structure which we show to be a site of endocytosis. Importantly, we document that in each of the five astrocytoma/glioblastoma cell lines fully formed primary cilia are either expressed at a very low level, are completely absent or have aberrant forms, due to incomplete ciliogenesis. Conclusions The recent discovery of the importance of primary cilia in a variety of cell functions raises the possibility that this structure may have a role in a variety of cancers. Our finding that the formation of the primary cilium is disrupted in cells derived from astrocytoma/glioblastoma tumors provides the first

  14. Bilateral alar cartilage reduction rhinoplasty allows primary repair of alar defects in the bulbous nose.

    Al-Benna, Sammy


    Plastic surgeons have many reconstructive options for lower nasal skin defects, but given the unique aesthetic features of nasal skin the best source for reconstruction is nasal skin itself, when sufficient quantity exists. The purpose of this study is to determine the outcome of bilateral alar cartilage reduction rhinoplasty in combination with a nasal flap to facilitate immediate reconstruction of defects of the nasal tip, soft triangle and alar margin. This prospective study analyzed the aesthetic outcome after reconstruction with bilateral alar cartilage reduction rhinoplasty to reduce the nasal rim and create an excess of skin sufficient to facilitate immediate reconstruction of defects of the nasal tip, soft triangle and alar margin. All wounds healed primarily and patient satisfaction was achieved. Bilateral alar cartilage reduction rhinoplasty allows single-stage reconstruction of defects of the nasal tip, soft triangle, and medial alar rim in the bulbous nose. By placing incisions along the borders of the aesthetic subunits, this novel approach to primary reconstruction of the nasal tip, soft triangle, and medial alar rim provides skin with a superior color and texture match, maintains a satisfactory contour of the nasal rim, and optimizes the likelihood of good scar quality.

  15. The strategy of psychopathy: primary psychopathic traits predict defection on low-value relationships.

    Gervais, Matthew M; Kline, Michelle; Ludmer, Mara; George, Rachel; Manson, Joseph H


    Recent evidence suggests that psychopathy is a trait continuum. This has unappreciated implications for understanding the selective advantage of psychopathic traits. Although clinical psychopathy is typically construed as a strategy of unconditional defection, subclinical psychopathy may promote strategic conditional defection, broadening the adaptive niche of psychopathy within human societies. To test this, we focus on a ubiquitous real-life source of conditional behaviour: the expected relational value of social partners, both in terms of their quality and the likely quantity of future interactions with them. We allow for conversational interaction among participants prior to their playing an unannounced, one-shot prisoner's dilemma game, which fosters naturalistic interpersonal evaluation and conditional behaviour, while controlling punishment and reputation effects. Individuals scoring higher on factor 1 (callous affect, interpersonal manipulation) of the Levenson self-report psychopathy scale defected conditionally on two kinds of low-value partners: those who interrupted them more during the conversation, and those with whom they failed to discover cues to future interaction. Both interaction effects support the hypothesis that subclinical primary psychopathy potentiates defection on those with low expected relational value. These data clarify the function and form of psychopathic traits, while highlighting adaptive variation in human social strategies.

  16. The role of primary point defects in the degradation of silicon detectors due to hadron and lepton irradiation

    Lazanu, I


    In this contribution, we argue that the main discrepancies between model calculations and experimental data for macroscopic detector characteristics (leakage current and concentration of effective carriers) after lepton and hadron irradiation could be solved naturally considering that the primary defects are self-interstitials, classical vacancies and the new predicted fourfold coordinated silicon pseudo-vacancy defect, and that the primary defects have significant contributions to change the macroscopic characteristics of detectors. This new defect is supposed to be introduced uniformly in the bulk during irradiation, has deep energy level(s) in the gap and it is stable in time. If the kinetics of defects is considered, it is possible to obtain a good agreement between model calculation and experimental data, and the characteristics of the SiFFCD defect: (energy level in the band gap and cross section for minority carrier capture) are indirectly determined. These predictions need experimental confirmation. I...

  17. Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.

    Notarangelo, Luigi D; Fleisher, Thomas A


    Primary immunodeficiency disorders (PIDs) represent a range of genetically determined diseases that typically have increased susceptibility to infections and in many cases also have evidence of immune dysregulation that often presents as autoimmunity. Most recently, the concept of gain-of-function mutations associated with PIDs has become well recognized and adds a new dimension to the understanding of this group of disorders, moving beyond the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects that have been identified in patients with previously uncharacterized PIDs has opened up the potential for targeted therapy directed at the specific disease-causing abnormality. This has been driven by linking PID-specific genetic defects to the associated unique abnormalities in cellular signaling pathways amenable to directed therapies. These include agents that either block overactive or enhance underresponsive cellular pathways. Selected primary immunodeficiencies were chosen, the genetic defects of which have been recently characterized and are amenable to targeted therapy, as a reflection of the power of precision medicine. Published by Elsevier Inc.

  18. The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

    Hilhorst-Hofstee, Yvonne; Rijlaarsdam, Marry EB; Scholte, Arthur JHA; Swart-van den Berg, Marietta; Versteegh, Michel IM; van der Schoot-van Velzen, Iris; Schäbitz, Hans-Joachim; Bijlsma, Emilia K; Baars, Marieke J; Kerstjens-Frederikse, Wilhelmina S; Giltay, Jacques C; Hamel, Ben C; Breuning, Martijn H; Pals, Gerard


    Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin-1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index cases referred for MFS we detected heterozygous missense mutations in FBN1 predicted to substitute the first aspartic acid of different calcium-binding Epidermal Growth Factor-like (cbEGF) fibrillin-1 domains. A similar mutation was found in homozygous state in 3 cases in a large consanguineous family. Heterozygous carriers of this mutation had no major skeletal, cardiovascular or ophthalmological features of MFS. In the literature 14 other heterozygous missense mutations are described leading to the substitution of the first aspartic acid of a cbEGF domain and resulting in a Marfan phenotype. Our data show that the phenotypic effect of aspartic acid substitutions in the first position of a cbEGF domain can range from asymptomatic to a severe neonatal phenotype. The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation. © 2010 Wiley-Liss, Inc. PMID:20886638

  19. A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.

    Kochilas, L; Gundogan, F; Atalay, M; Bliss, J M; Vatta, M; Pena, L S; Abuelo, D


    Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.

  20. Puerto Rican primary physicians' knowledge about folic acid supplementation for the prevention of neural tube defects.

    Miranda, Ana; Dávila Torres, René R; Gorrín Peralta, José J; Montes de Longo, Idalina


    We conducted a study of a group of primary physicians in Puerto Rico to evaluate their knowledge about folic acid supplementation to prevent neural tube defects. The study design was transverse-correlational. A total of 66 primary physicians in two hospitals (public and private) participated in the study. The sample was nonrandom and opportunistic, and only those physicians present in the hospitals at the moment of distribution of the questionnaires participated. A self-administered and anonymous questionnaire was used. Descriptive statistics and cross-tabular analysis were used to describe the results of this study. Inferential statistics were also used, including Chi square and t-tests to establish the associations/differences between physician knowledge and the independent variables. Of the participants, 87.9% demonstrated an inadequate knowledge about folic acid supplementation for the prevention of neural tube defects as part of preconception care and only 12.1% demonstrated adequate knowledge. Older physicians had greater knowledge about folic acid. Also, women demonstrated greater knowledge about folic acid than did men. Most of the physicians who always recommend supplementation to their patients demonstrated a greater knowledge about folic acid, and all participants with adequate knowledge came from the public hospital. Despite a concerted effort by the Health Department of Puerto Rico to provide education in the importance of folic acid supplementation to reduce the incidence of neural tube defects, primary physicians in two Puerto Rican hospitals generally have not availed themselves of this training and showed a lack of knowledge on this important clinical issue. Copyright 2003 Wiley-Liss, Inc.

  1. Laparoscopic ventral hernia repair: outcomes in primary versus incisional hernias: no effect of defect closure.

    Lambrecht, J R; Vaktskjold, A; Trondsen, E; Øyen, O M; Reiertsen, O


    Supposing divergent aetiology, we found it interesting to investigate outcomes between primary (PH) versus incisional (IH) hernias. In addition, we wanted to analyse the effect of defect closure and mesh fixation techniques. 37 patients with PH and 70 with IH were enrolled in a prospective cohort-study, treated with laparoscopic ventral hernia repair (LVHR) and randomised to ± transfascial sutures. In addition, we analysed results from a retrospective study with 36 PH and 51 IH patients. Mean follow-up time was 38 months in the prospective study and 27 months in the retrospective study. 35 % of PH's and 10 % of IH's were recurrences after previous suture repair. No late infections or mesh removals occurred. Recurrence rates in the prospective study were 0 vs. 4.3 % (p = 0.55) and the complication rates were 16 vs. 27 % (p = 0.24) in favour of the PH cohort. The IH group had a mesh protrusion rate of 13 vs. 5 % in the PH group (p = 0.32), and significantly (p hernias and adhesion score, longer operating time (100 vs. 79 min) and admission time (2.8 vs. 1.6 days). Closure of the hernia defect did not influence rate of seroma, pain at 2 months, protrusion or recurrence. An overall increased complication rate was seen after defect closure (OR 3.42; CI 1.25-9.33). With PH, in comparison to IH treated with LVHR, no differences were observed regarding recurrence, protrusion or complication rates. Defect closure (raphe), when using absorbable suture, did not benefit long-term outcomes and caused a higher overall complication rate. ( number: NCT00455299).

  2. A Novel Approach for Full-Thickness Defect of the Nasal Alar Rim: Primary Closure of the Defect and Reduction of the Contralateral Normal Ala for Symmetry.

    Choe, Yun Seon; Kim, Min-Woo; Jo, Seong Jin


    In full-thickness defects of the nasal alar rim, to achieve projection and maintain airway patency, cartilage graft is frequently needed. However, cartilage graft presents a challenge in considerations such as appropriate donor site, skeletal shape and size, and healing of the donor area. To avoid these demerits, we tried primary closure of alar rim defects by also making the contralateral normal ala smaller. We treated two patients who had a full-thickness nasal alar defect after tumor excision. Cartilage graft was considered for the reconstruction. However, their alar rims were overly curved and their nostril openings were large. To utilize their nasal shape, we did primary closure of the defect rather than cartilage graft, and then downsized the contralateral nasal ala by means of wedge resection to make the alae symmetric. Both patients were satisfied with their aesthetic results, which showed a smaller nostril and nearly straight alar rims. Moreover, functionally, there was no discomfort during breathing in both patients. We propose our idea as one of the reconstruction options for nasal alar defects. It is a simple and easy-to-perform procedure, in addition to enhancing the nasal contour. This method would be useful for patients with a large nostril and an overly curved alar rim.

  3. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

    Milewicz, D. M.; Duvic, M.


    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. We studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secret fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Marfan syndrome. We conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. Images Figure 1 Figure 2 Figure 3 PMID:8116614

  4. Severe neonatal marfan syndrome resulting from a De Novo 3-bp insertion into the fibrillin gene on chromosome 15

    Milewicz, D.M.; Duvic, M. (Univ. of Texas Medical School, Houston, TX (United States))


    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. The authors studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secrete fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Maran syndrome. The authors conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. 32 refs., 3 figs.

  5. LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

    Amjad Horani

    Full Text Available Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chromosome 8 and one candidate was conserved in organisms with motile cilia. Sequencing revealed a single novel mutation in LRRC6 (Leucine-rich repeat containing protein 6 that fit the model of autosomal recessive genetic transmission, leading to a change of a highly conserved amino acid from aspartic acid to histidine (Asp146His. LRRC6 was localized to the cytoplasm and was up-regulated during ciliogenesis in human airway epithelial cells in a Foxj1-dependent fashion. Nasal epithelial cells isolated from affected individuals and shRNA-mediated silencing in human airway epithelial cells, showed reduced LRRC6 expression, absent dynein arms, and slowed cilia beat frequency. Dynein arm proteins were either absent or mislocalized to the cytoplasm in airway epithelial cells from a primary ciliary dyskinesia subject. These findings suggest that LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects.

  6. Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).

    Lee, Wen-I; Huang, Jing-Long; Yeh, Kuo-Wei; Jaing, Tang-Her; Lin, Tzou-Yien; Huang, Yhu-Chering; Chiu, Cheng-Hsun


    Natural human immunity to the mycobacteria group, including Mycobacterium tuberculosis, Bacille Calmette-Guérin (BCG) or nontuberculous mycobacteria (NTM), and/or Salmonella species, relies on the functional IL-12/23-IFN-γ integrity of macrophages (monocyte/dendritic cell) connecting to T lymphocyte/NK cells. Patients with severe forms of primary immunodeficiency diseases (PIDs) have more profound immune defects involving this impaired circuit in patients with severe combined immunodeficiencies (SCID) including complete DiGeorge syndrome, X-linked hyper IgM syndrome (HIGM) (CD40L mutation), CD40 deficiency, immunodeficiency with or without anhidrotic ectodermal dysplasia (NEMO and IKBA mutations), chronic granulomatous disease (CGD) and hyper IgE recurrent infection syndromes (HIES). The patients with severe PIDs have broader diverse infections rather than mycobacterial infections. In contrast, patients with an isolated inborn error of the IL-12/23-IFN-γ pathway are exclusively prone to low-virulence mycobacterial infections and nontyphoid salmonella infections, known as Mendelian susceptibility to the mycobacterial disease (MSMD) phenotype. Restricted defective molecules in the circuit, including IFN-γR1, IFN-γR2, IL-12p40, IL-12R-β1, STAT-1, NEMO, IKBA and the recently discovered CYBB responsible for autophagocytic vacuole and proteolysis, and interferon regulatory factor 8 (IRF8) for dendritic cell immunodeficiency, have been identified in around 60% of patients with the MSMD phenotype. Among all of the patients with PIDs referred for investigation since 1985, we have identified four cases with the specific defect (IFNRG1 for three and IL12RB for one), presenting as both BCG-induced diseases and NTM infections, in addition to some patients with SCID, HIGM, CGD and HIES. Furthermore, manifestations in patients with autoantibodies to IFN-γ (autoAbs-IFN-γ), which is categorized as an anticytokine autoantibody syndrome, can resemble the relatively persistent

  7. Identification of genetic defects in primary immunodeficiencies by whole exome sequencing

    Christiansen, Mette; Jensen, Jens Magnus Bernth; Veirum, Jens Erik


    to hypogammaglobulinaemia, and increased risk of both infections as well as cancer. We employed whole exome sequencing (WES) to identify mutations associated with primary immunodeficiency in severely affected children. We present WES data on 2 patients with severe immunodeficiency. WES was performed using TruSeq exome kit...... and severe infections including sepsis. Second, we identified compound heterozygote stopgain mutations in RAD52 and a heterozygote mutation in LRRC8A in a 7 year-old girl with T-cell deficiency, reduced T-cell mediated B-cell activity, hypogammaglobulinaemia, prolonged splenomegali and benign adenopathy. RAD......52 has not previously been linked to immunodeficiency and we are currently investigating the functional consequences. Knowledge of the mechanisms underlying immunodeficiencies is a prerequisite for understanding disease pathogenesis. WES allows the demonstration of immune defects that may result from...

  8. Comparison between visual field defect in pigmentary glaucoma and primary open-angle glaucoma.

    Nilforushan, Naveed; Yadgari, Maryam; Jazayeri, Anisalsadat


    To compare visual field defect patterns between pigmentary glaucoma and primary open-angle glaucoma. Retrospective, comparative study. Patients with diagnosis of primary open-angle glaucoma (POAG) and pigmentary glaucoma (PG) in mild to moderate stages were enrolled in this study. Each of the 52 point locations in total and pattern deviation plot (excluding 2 points adjacent to blind spot) of 24-2 Humphrey visual field as well as six predetermined sectors were compared using SPSS software version 20. Comparisons between 2 groups were performed with the Student t test for continuous variables and the Chi-square test for categorical variables. Thirty-eight eyes of 24 patients with a mean age of 66.26 ± 11 years (range 48-81 years) in the POAG group and 36 eyes of 22 patients with a mean age of 50.52 ± 11 years (range 36-69 years) in the PG group were studied. (P = 0.00). More deviation was detected in points 1, 3, 4, and 32 in total deviation (P = 0.03, P = 0.015, P = 0.018, P = 0.023) and in points 3, 4, and 32 in pattern deviation (P = 0.015, P = 0.049, P = 0.030) in the POAG group, which are the temporal parts of the field. It seems that the temporal area of the visual field in primary open-angle glaucoma is more susceptible to damage in comparison with pigmentary glaucoma.

  9. The primary folding defect and rescue of ΔF508 CFTR emerge during translation of the mutant domain

    Hoelen, H.M.; Kleizen, B.; Schmidt, A.; Richardson, J.; Charitou, P.; Braakman, L.J.; Thomas, P. J.


    In the vast majority of cystic fibrosis (CF) patients, deletion of residue F508 from CFTR is the cause of disease. F508 resides in the first nucleotide binding domain (NBD1) and its absence leads to CFTR misfolding and degradation. We show here that the primary folding defect arises during synthesis

  10. Defect occurrence, detection, location and characterization; essential variables of the LBB concept application to primary piping

    Crutzen, S.; Koble, T.D.; Lemaitre, P. [and others


    Applications of the Leak Before Break (LBB) concept involve the knowledge of flaw presence and characteristics. In Service Inspection is given the responsibility of detecting flaws of a determined importance to locate them precisely and to classify them in broad families. Often LBB concepts application imply the knowledge of flaw characteristics such as through wall depth; length at the inner diameter (ID) or outer diameter (OD) surface; orientation or tilt and skew angles; branching; surface roughness; opening or width; crack tip aspect. Besides detection and characterization, LBB evaluations consider important the fact that a crack could be in the weld material or in the base material or in the heat affected zone. Cracks in tee junctions, in homogenous simple welds and in elbows are not considered in the same way. Essential variables of a flaw or defect are illustrated, and examples of flaws found in primary piping as reported by plant operators or service vendors are given. If such flaw variables are important in the applications of LBB concepts, essential is then the knowledge of the performance achievable by NDE techniques, during an ISI, in detecting such flaws, in locating them and in correctly evaluating their characteristics.

  11. Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome.

    Wang, Jing; Wen, Yubing; Zhou, Mengyu; Shi, Xiaoxiao; Jiang, Lanping; Li, Mingxi; Yu, Yang; Li, Xuemei; Li, Xuewang; Zhang, Wen; Lundquist, Andrew L; Chen, Limeng


    This study reports the clinical and pathological features of 12 cases of primary Sjogren syndrome (pSS) with renal involvement presenting with proximal tubular dysfunction in a single center, and investigates the possible correlation of ectopic germinal center formation and megalin/cubilin down-expression. Clinical and pathological records were reviewed. Immunohistochemistry was carried out to detect megalin, cubilin, CD21 and IL-17 expression. Patients presented with different degrees of proximal renal tubule lesion and decreased estimated glomerular filtration rate (eGFR). Renal biopsy revealed tubulointerstitial nephritis, with tubular epithelial cell degeneration, tubular atrophy, interstitial inflammation and focal fibrosis. Immunohistochemistry revealed decreased expression of megalin and cubilin, two important multiligand protein receptors on the brush border of proximal tubular epithelial cells. IL-17 secreted by Th17 subtype effector T cells was diffusely detected in the renal proximal tubule, with a negative correlation of IL-17 and megalin expression. In addition, ectopic germinal centers characterized by CD21(+) follicular dendritic cells were present in the renal interstitium. In patients with a decreased eGFR, treatment with 4 weeks of glucocorticoid therapy resulted in an improved eGFR in 75% of patients. We report 12 cases of pSS characterized by Fanconi syndrome. The decreased megalin and cubilin expression may contribute to the proximal tubular reabsorption defect, possibly secondary to Th17 infiltration and formation of ectopic germinal centers.

  12. Primary rotational stability of various megaprostheses in a biomechanical sawbone model with proximal femoral defects extending to the isthmus.

    Stefan Kinkel

    Full Text Available Fixation of proximal femoral megaprostheses is achieved in the diaphyseal isthmus. We hypothesized that after extended bone resection including the proximal part of the isthmus a reduced length of fixation will affect the stability and fixation characteristics of these megaprostheses. The aim of this study was to analyze in a validated sawbone model with extended proximal femoral defects which types of implants have sufficient primary stability to allow osteointegration and to describe their fixation characteristics.Four different cementless megaprostheses were implanted into 16 Sawbones with an AAOS type III defect after resection 11 cm below the lesser trochanter involving the proximal isthmus. To determine the primary implant stability relative micromotions between bone and implant were measured in relation to a cyclic torque of 7Nm applied on the longitudinal axis of the implant. We determined the fixation characteristics of the different implant designs by comparing these relative micromotions along the longitudinal stem axis.In the tested sawbones all studied implants showed sufficient primary stability to admit bone integration with relative micromotions below 150 µm after adapting our results to physiologic hip joint loadings. Different fixation characteristics of the megaprostheses were determined, which could be explained by their differing design and fixation concepts.Cementless megaprostheses of different designs seem to provide sufficient primary stability to bridge proximal femoral defects if the diaphyseal isthmus is partially preserved. In our sawbone model the different implant fixation patterns can be related to their stem designs. No evidence can be provided to favor one of the studied implants in this setting. However, femoral morphology is variable and in different isthmus configurations specific implant designs might be appropriate to achieve the most favorable primary stability, which enables bone integration and

  13. Direct inhibition of elastase and matrixmetalloproteinases and stimulation of biosynthesis of fibrillar collagens, elastin, and fibrillins by xanthohumol.

    Philips, Neena; Samuel, Mathew; Arena, Rosemarie; Chen, Yu-Jun; Conte, Jennifer; Natarajan, Prashanthi; Natrajan, Prashanti; Haas, Gerhard; Gonzalez, Salvador


    In skin aging there is deterioration of the extracellular matrix's collagen and elastin fibers, from its reduced biosynthesis and increased degradation by elastase and matrixmetalloproteinases (MMPs). Xanthohumol is a flavonoid isolated from the hop plant Humulus lupulus L., with anti-microbial, antioxidant, anti-inflammatory, and anti-carcinogenic properties. The goal of this research was to investigate xanthohumol as an anti-skinaging agent via its beneficial regulation of the extracellular matrix. To this purpose, we examined the direct effect of xanthohumol on the activities of elastase and MMPs (MMPs 1, 2, and 9) and its effect on the expression (protein and/or transcription levels) of collagens (types I, III, and V), elastin, and fibrillins (1 and 2) in dermal fibroblasts. Xanthohumol significantly inhibited elastase and MMP-9 activities from its lowest concentration, and MMP-1 and MMP-2 at its higher concentrations, which implies a greater protective effect on elastin. It dramatically increased the expression of types I, III, and V collagens, and elastin, fibrillin-1, and fibrillin-2 in dermal fibroblasts. The effects were similar to those of ascorbic acid. This is the first report identifying xanthohumol's potential to improve skin structure and firmness: it simultaneously inhibits the activities of elastase/MMPs and stimulates the biosynthesis of fibrillar collagens, elastin, and fibrillins.

  14. Free perforating branch flap for primary repairing the huge soft-tissue defects on the scalp and face.

    Wang, Hong-Yuan; Wang, Ming-Gang; Yu, Gang; Chu, Yan-Jun; Wang, Kai; Wei, Xiang-Pin; Sun, Jing-Wu


    This study aimed to explore the effect of free perforating branch flap on the reconstruction of huge soft-tissue defects on the scalp and face. Sixteen cases of huge soft-tissue defects on the scalp and face were reconstructed by nine latissimus dorsi-free perforator flaps and seven anterolateral thigh-free perforator flaps. The defects area was from 12 cm× 7 cm to 20 cm × 11 cm, while the flaps area was from 14 cm × 8 cm to 23 cm × 12 cm. The survival, planeness, chromatic aberration, radiotherapy toleration of flap and the function, scar of donor site were observed postoperatively. All of the flaps were survived completely, and 15 cases presented for primary reconstruction; one underwent secondary reconstruction. One of the patients died one-year postoperatively due to intracranial tumor recurrence and the others had no recurrence. All of the flaps showed perfect shape and appropriate thickness. No roentgen ulcer was observed except for some extent of chromatic aberration. The donor-site scar was larvaceous and the function was good. This study indicated that the latissimus dorsi-free perforator flap or anterolateral thigh-free perforator flap was an ideal choice for the reconstruction of defects on the scalp and face.

  15. FBN1 gene mutation defines the profibrillin to fibrillin processing site and segregates with tall stature in a family

    Grossfield, J.; Cao, S.; Milewicz, D. [Univ. of Texas Medical School, Houston, TX (United States)] [and others


    Dermal fibroblasts from a 13-year-old boy with skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Synthesis and secretion of profibrillin was normal but only half of the secreted profibrillin was converted to fibrillin, an extracellular proteolytic processing that removes a 20 kDa fragment from the protein. All the secreted profibrillin was processed to fibrillin in control cells. Only the processed form of fibrillin was deposited into the extracellular matrix in both the proband`s and the control cells. Electron microscopic examination of rotary shadowed microfibrils made by the proband`s fibroblasts were indistinguishable from control cells. Screening exons in the 3{prime} end of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 5482 of the FBN1 cDNA changing R 1828 to W. This mutation disrupts a known consensus sequence recognized by a cellular protease and is located in the carboxy terminus at a site predicted to remove a 19 kD fragment. The proband and his 22-year-old brother, also heterozygous for the mutation, have had normal echocardiograms and ophthalmologic exams. The mutation segregated in the proband`s three generation family with autosomal dominant inheritance of height (> 90th percentile) and no known cardiovascular or ocular problems, including the 67-year-old grandmother (exams pending). The mutation was not found in 90 chromosomes from unrelated individuals. In summary, (1) the mutation identifies the cleavage site for the conversion of profibrillin to fibrillin; (2) the characterized mutation segregates in the family with tall stature without known cardiovascular or ocular problems; (3) this mutation potentially defines the phenotype associated with a {open_quotes}null{close_quotes} allele for the FBN1 gene.

  16. Retraction: Selective cerebro-myocardial perfusion under mild hypothermia during primary repair for aortic coarctation with ventricular septal defect.


    The following article from Artificial Organs, "Selective Cerebro-Myocardial Perfusion Under Mild Hypothermia During Primary Repair for Aortic Coarctation With Ventricular Septal Defect" by Huiwen Chen, Haifa Hong, Zhongqun Zhu and Jinfen Liu, published online on 2 November 2012 in Wiley Online Library (, has been retracted by agreement between the authors, the journal Editor-in-Chief, Paul S. Malchesky, the International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc. The retraction has been agreed due to simultaneous publication of a substantially similar article, "Continuous Cerebral and Myocardial Perfusion During One-Stage Repair for Aortic Coarctation With Ventricular Septal Defect", by Huiwen Chen, Haifa Hong, Zhongqun Zhu and Jinfen Liu, in Pediatric Cardiology 7 November 2012 [Epub ahead of print].

  17. The diabetic phenotype is conserved in myotubes established from diabetic subjects: evidence for primary defects in glucose transport and glycogen synthase activity

    Gaster, Michael; Petersen, Ingrid; Højlund, Kurt;


    The most well-described defect in the pathophysiology of type 2 diabetes is reduced insulin-mediated glycogen synthesis in skeletal muscles. It is unclear whether this defect is primary or acquired secondary to dyslipidemia, hyperinsulinemia, or hyperglycemia. We determined the glycogen synthase...

  18. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome


    Objective To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin-1 (FBN1) gene.Methods Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and the other of neonatal onset. Their clinical features were described. Mutational analysis of the FBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23 - 32,where the mutational hotspots for severe forms of Marfan syndrome are located.Results Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported mutation.Conclusion Taking advantage of the clustering phenomenon of mutations in severe forms of Marfan syndrome, one can identify FBN1 mutations in these patients by first screening the mutational hotspots,thus reducing the effort that would otherwise be much greater because of the size of the gene.

  19. ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.

    Gaynor Miller

    Full Text Available BACKGROUND: Fibrillins 1 (FBN1 and 2 (FBN2 are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin. Marfan's syndrome and congenital contractural arachnodactyly (CCA result from dominant mutations in the genes FBN1 and FBN2 respectively. Patients with both conditions often present with specific muscle atrophy or weakness, yet this has not been reported in the mouse models. In the case of Fbn1, this is due to perinatal lethality of the homozygous null mice making measurements of strength difficult. In the case of Fbn2, four different mutant alleles have been described in the mouse and in all cases syndactyly was reported as the defining phenotypic feature of homozygotes. METHODOLOGY/PRINCIPAL FINDINGS: As part of a large-scale N-ethyl-N-nitrosourea (ENU mutagenesis screen, we identified a mouse mutant, Mariusz, which exhibited muscle weakness along with hindlimb syndactyly. We identified an amber nonsense mutation in Fbn2 in this mouse mutant. Examination of a previously characterised Fbn2-null mutant, Fbn2(fp, identified a similar muscle weakness phenotype. The two Fbn2 mutant alleles complement each other confirming that the weakness is the result of a lack of Fbn2 activity. Skeletal muscle from mutants proved to be abnormal with higher than average numbers of fibres with centrally placed nuclei, an indicator that there are some regenerating muscle fibres. Physiological tests indicated that the mutant muscle produces significantly less maximal force, possibly as a result of the muscles being relatively smaller in Mariusz mice. CONCLUSIONS: These findings indicate that Fbn2 is involved in integrity of structures required for strength in limb movement. As human patients with mutations in the fibrillin genes FBN1 and FBN2 often present with muscle weakness and atrophy as a symptom, Fbn2-null mice will be a useful model for examining this aspect of the disease process

  20. Enamel defect of primary dentition in SGA children in relation to onset time of intrauterine growth disturbance

    Willyanti Soewondo Sjarif


    Full Text Available Background: Prenatal disturbances disturb the development of organs resulting in small for gestational age (SGA babies and also causes enamel defects in primary teeth. There are disturbances occur in the beginning of pregnancy causing symmetrical SGA, and asymmetrical type of SGA, where the disturbances occur late in pregnancy. Purpose: This research was to determined differences in severity of enamel defect of primary dentition in small for gestational age children based on the time of intrauterine growth restriction. Methods: This was a clinical epidemiological cohort study. The Ponderal index was used to determine SGA type. The subjects were 129 SGA children aged 9-42 months, 82 with asymmetrical SGA and 47 with symmetrical SGA. Two hundred normal birth weight children were the control group. Intra-oral examinations to determine enamel defect used the FDI modification of the Developmental Defect of Enamel score at 3 months intervals. Statistical t-tests were used to test the difference in severity of enamel defect, and chisquare to find out the difference of Relative Risk Ratio (RRR. Results: The results showed that the enamel defect scores of symmetrical SGA were significantly higher than those with asymmetrical SGA. RRR for severe defect was also significantly higher in symmetrical type for anterior and canines. Conclusion: The study suggested that the severity of enamel defect for infants with symmetrical SGA was higher than those with asymmetrical SGA, indicating that the severity of the defect occurs in the beginning of pregnancy is more severe than in the late pregnancy.Latar belakang: Adanya gangguan prenatal mengganggu perkembangan organ, mengakibatkan terjadinya bayi lahir dengan kecil masa kehamilan (KMK dan defek email pada gigi sulung. Terdapat 2 tipe KMK yaitu tipe simetri; gangguan terjadi pada awal kehamilan; dimana lingkar kepala, berat dan panjang lahir lebih rendah dari normal. Tipe asimetri dimana gangguan terjadi saat

  1. Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins.

    Jensen, Sacha A; Iqbal, Sarah; Lowe, Edward D; Redfield, Christina; Handford, Penny A


    The fibrillins and latent transforming growth factor-beta binding proteins (LTBPs) form a superfamily of structurally-related proteins consisting of calcium-binding epidermal growth factor-like (cbEGF) domains interspersed with 8-cysteine-containing transforming growth factor beta-binding protein-like (TB) and hybrid (hyb) domains. Fibrillins are the major components of the extracellular 10-12 nm diameter microfibrils, which mediate a variety of cell-matrix interactions. Here we present the crystal structure of a fibrillin-1 cbEGF9-hyb2-cbEGF10 fragment, solved to 1.8 A resolution. The hybrid domain fold is similar, but not identical, to the TB domain fold seen in previous fibrillin-1 and LTBP-1 fragments. Pairwise interactions with neighboring cbEGF domains demonstrate extensive interfaces, with the hyb2-cbEGF10 interface dependent on Ca(2+) binding. These observations provide accurate constraints for models of fibrillin organization within the 10-12 nm microfibrils and provide further molecular insights into how Ca(2+) binding influences the intermolecular interactions and biomechanical properties of fibrillin-1.

  2. Primary defects in lipolysis and insulin action in skeletal muscle cells from type 2 diabetic individuals.

    Kase, Eili T; Feng, Yuan Z; Badin, Pierre-Marie; Bakke, Siril S; Laurens, Claire; Coue, Marine; Langin, Dominique; Gaster, Michael; Thoresen, G Hege; Rustan, Arild C; Moro, Cedric


    A decrease in skeletal muscle lipolysis and hormone sensitive-lipase (HSL) expression has been linked to insulin resistance in obesity. The purpose of this study was to identify potential intrinsic defects in lipid turnover and lipolysis in myotubes established from obese and type 2 diabetic subjects. Lipid trafficking and lipolysis were measured by pulse-chase assay with radiolabeled substrates in myotubes from non-obese/non-diabetic (lean), obese/non-diabetic (obese) and obese/diabetic (T2D) subjects. Lipolytic protein content and level of Akt phosphorylation were measured by Western blot. HSL was overexpressed by adenovirus-mediated gene delivery. Myotubes established from obese and T2D subjects had lower lipolysis (-30-40%) when compared to lean, using oleic acid as precursor. Similar observations were also seen for labelled glycerol. Incorporation of oleic acid into diacylglycerol (DAG) and free fatty acid (FFA) level was lower in T2D myotubes, and acetate incorporation into FFA and complex lipids was also lower in obese and/or T2D subjects. Both protein expression of HSL (but not ATGL) and changes in DAG during lipolysis were markedly lower in cells from obese and T2D when compared to lean subjects. Insulin-stimulated glycogen synthesis (-60%) and Akt phosphorylation (-90%) were lower in myotubes from T2D, however, overexpression of HSL in T2D myotubes did not rescue the diabetic phenotype. In conclusion, intrinsic defects in lipolysis and HSL expression co-exist with reduced insulin action in myotubes from obese T2D subjects. Despite reductions in intramyocellular lipolysis and HSL expression, overexpression of HSL did not rescue defects in insulin action in skeletal myotubes from obese T2D subjects.

  3. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2

    Wang, Mei; Godfrey, M. [Univ. of Nebraska Medical Center, Omaha, NE (United States); Clericuzio, C.L. [Univ. of New Mexico, Albuquerque, NM (United States)


    Genetic linkage studies have linked congenital contractual arachnodactyly (CCA), a usually mild heritable connective-tissue disorder, to FBN2, the fibrillin gene on chromosome 5. Recently, FBN2 mutations in two patients with CCA have been described. Here we report an A{r_arrow}T transversion at the -2 position of the consensus acceptor splice site, resulting in the missplicing of exon 34, a calcium-binding epidermal growth factor-like repeat in fibrillin-2 in a mother and daughter with CCA. Significantly, the mother exhibited a classic CCA phenotype with arachnodactyly, joint contractures, and abnormal pinnae, whereas her daughter exhibited a markedly more severe CCA phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy. Analysis of cloned fibroblasts showed that the mother is a somatic mosaic for the exon 34 missplicing mutation, whereas all the daughter`s cells harbored the mutation. 48 refs., 6 figs., 2 tabs.

  4. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

    Milewicz, D M; Duvic, M


    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. We studied an infant with severe neonatal ...

  5. Primary defects in lipolysis and insulin action in skeletal muscle cells from type 2 diabetic individuals

    Kase, E. T.; Feng, Y. Z.; Badin, P. M.


    A decrease in skeletal muscle lipolysis and hormone sensitive-lipase (HSL) expression has been linked to insulin resistance in obesity. The purpose of this study was to identify potential intrinsic defects in lipid turnover and lipolysis in myotubes established from obese and type 2 diabetic...... subjects. Lipid trafficking and lipolysis were measured by pulse-chase assay with radiolabeled substrates in myotubes from non-obese/non-diabetic (lean), obese/non-diabetic (obese) and obese/diabetic (T2D) subjects. Lipolytic protein content and level of Akt phosphorylation were measured by Western blot....... HSL was overexpressed by adenovirus-mediated gene delivery. Myotubes established from obese and T2D subjects had lower lipolysis (-30-40%) when compared to lean, using oleic acid as precursor. Similar observations were also seen for labelled glycerol. Incorporation of oleic acid into diacylglycerol...

  6. Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia.

    Aoki, Y


    Activities of mitochondrial enzymes in blood cells from 69 patients with primary sideroblastic anemia were determined to elucidate the pathogenesis of the disease. In erythroblasts of patients with primary acquired type the activities of both delta-aminolevulinic acid synthetase and mitochondrial serine protease were inevitably decreased. The susceptibility to the protease of apo-delta-aminolevulinic acid synthetase prepared from erythroblasts of patients with this type was within the normal range, in contrast to that of pyridoxine-responsive anemia. The activities of mitochondrial enzymes such as cytochrome oxidase, serine protease, and oligomycin-sensitive ATPase, except citrate synthetase, were usually decreased in mature granulocytes of the patients. Patients with hereditary sideroblastic anemia also had decreased delta-aminolevulinic acid synthetase activity in erythroblasts, and decreased serine protease activity in both erythroblasts and mature granulocytes. Mature granulocytes obtained from patients with pyridoxine-responsive anemia before therapy had decreased cytochrome oxidase activity, however, the activity increased to a normal level when the patients were in remission. The activities of other mitochondrial enzymes in mature granulocytes were within normal range in these patients before pyridoxine therapy. The activities of these mitochondrial enzymes in lymphocytes were within normal range in all groups of patients with primary sideroblastic anemia. We suggest that patients with primary acquired, and possibly also those with hereditary sideroblastic anemia have impaired mitochondrial function in both erythroblasts and granulocytes. That only anemia is observed in these patients is because a functional abnormality of mitochondria in erythroblasts is most important because of the role of mitochondria in the formation of heme in erythrocyte development. In contrast to these two types of sideroblastic anemia, only delta-aminolevulinic acid synthetase in

  7. Primary trabeculodysgenesis in association with neonatal Marfan syndrome

    Whitelaw, CM; Anwar, S; Ades, LC; Gole, GA; Elder, JE; Savarirayan, R


    We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported pr

  8. Kerboull-type plate in a direct anterior approach for severe bone defects at primary total hip arthroplasty: technical note

    Matsumoto Mikio


    Full Text Available Introduction: For cases with extensive acetabular bone defects, we perform surgery combining the Kerboull-type (KT plate and bone graft through direct anterior approach (DAA in primary total hip arthroplasty (THA requiring acetabular reconstruction as minimally invasive surgery. This paper provides the details of the surgical procedure. Methods: The basic structure of the Kerboull-type plate is a cruciform plate. Since the hook of the Kerboull-type plate has to be applied to the tear drop, a space for it was exposed. The tear drop is located in the anterior lower region in surgery through DAA in supine position. It was also confirmed by fluoroscopy as needed. The bone grafting was performed using an auto- or allogeneic femoral head for bone defects in the weight-bearing region of the hip joint. Results: Of 563 patients who underwent primary THA between 2012 and 2014, THA using the KT plate through DAA was performed in 21 patients (3.7%. The mean duration of postoperative follow-up was 31.8 months. The mean operative time was 188.4 min, and the mean blood loss was 770 g. The patients became able to walk independently after 2.4 days on average (1–4 days. On clinical evaluation, the modified Harris Hip Score was 45.6 ± 12.4 before surgery, and it was significantly improved to 85.3 ± 8.97 on the final follow-up. Discussion: DAA is a true intermuscular approach capable of conserving soft tissue. Since it is applied in a supine position, fluoroscopy can be readily used, and it was very useful to accurately place the plate.

  9. Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

    Angel L. Pey


    Full Text Available Alanine-glyoxylate aminotransferase catalyzes the transamination between L-alanine and glyoxylate to produce pyruvate and glycine using pyridoxal 5′-phosphate (PLP as cofactor. Human alanine-glyoxylate aminotransferase is a peroxisomal enzyme expressed in the hepatocytes, the main site of glyoxylate detoxification. Its deficit causes primary hyperoxaluria type I, a rare but severe inborn error of metabolism. Single amino acid changes are the main type of mutation causing this disease, and considerable effort has been dedicated to the understanding of the molecular consequences of such missense mutations. In this review, we summarize the role of protein homeostasis in the basic mechanisms of primary hyperoxaluria. Intrinsic physicochemical properties of polypeptide chains such as thermodynamic stability, folding, unfolding, and misfolding rates as well as the interaction of different folding states with protein homeostasis networks are essential to understand this disease. The view presented has important implications for the development of new therapeutic strategies based on targeting specific elements of alanine-glyoxylate aminotransferase homeostasis.

  10. Clinical follow-up of ceramic bridges with auro-galvanoforming primary coping and Ni-Cr pontic for restoration of dentition defects

    ZHANG Xiang-hao; SUN Feng


    Background Alternatives to the conventional auro-galvanoforming ceramic bridge need to be evaluated in long-term longitudinal studies before being recommended for restoration of dentition defects. This study aimed to evaluate the clinical performance of a ceramic bridge with auro-galvanoforming primary coping and Ni-Cr pontic for restoration of dentition defects.Methods In total, 114 ceramic bridges with auro-galvanoforming (primary coping and Ni-Cr pontic) were placed in 112 patients with dentition defects. Among them, 83 bridges in 82 patients were available for follow-up after 7 years. We evaluated marginal integrity, color match, gingival inflammation, fracture of ceramic bridges, and recurrent caries. Results Marginal integrity of the ceramic bridges was perfect in all patients. Most ceramic bridges maintained their original color. Fracture was found in three bridges; the rest were free of fracture, breakage, and loosening. Recurrent abutment caries were not found. Ceramic bridges with auro-galvanoforming (primary coping and Ni-Cr pontic) produced satisfactory clinical outcomes-equivalent to the conventional porcelain-fused-to-metal restoration. This technique is especially useful for dentition defects of the molar area and is cheaper than restoration with noble metal bridges. Conclusions Ceramic bridges with auro-galvanoforming (primary coping and Ni-Cr pontic) performed well for the restoration of dentition defects during this follow-up period. More studies are warranted to further evaluate this technique as an alternative to the conventional porcelain-fused-to-metal restoration.

  11. Novel primary thymic defect with T lymphocytes expressing gamma delta T cell receptor

    Geisler, C; Pallesen, G; Platz, P


    Flow cytometric analysis of the peripheral blood mononuclear cells in a six year old girl with a primary cellular immune deficiency showed a normal fraction of CD3 positive T cells. Most (70%) of the CD3 positive cells, however, expressed the gamma delta and not the alpha beta T cell receptor....... Immunoprecipitation and sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) showed that most of the gamma delta T cell receptors existed as disulphide-linked heterodimers. Proliferative responses to mitogens were severely reduced, but specific antibody responses after vaccination could be detected...... deficiency associated with a high proportion of T cells expressing the gamma delta T cell receptor has been described in nude mice, and it is suggested that the immune deficiency of this patient may represent a human analogue....

  12. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.

    Lehman, Anna; Mattman, Andre; Sin, Don; Pare, Peter; Zong, Zheyuan; d'Azzo, Alessandra; Campos, Yvan; Sirrs, Sandra; Hinek, Aleksander


    Galactosialidosis is a lysosomal storage disorder caused by loss of function of protective protein cathepsin A, which leads to secondary deficiencies of β-galactosidase and neuraminidase-1. Emphysema has not been previously reported as a possible complication of this disorder, but we now describe this condition in a 41-year-old, non-smoking male. Our patient did not display deficiency in α-1-antitrypsin, the most common cause of emphysema in non-smokers, which brings about disseminated elastolysis. We therefore hypothesized that loss of cathepsin A activity was responsible because of previously published evidence showing it is prerequisite for normal elastogenesis. We now present experimental evidence to support this theory by demonstrating impaired primary elastogenesis in cultures of dermal fibroblasts from our patient. The obtained data further endorse our previous finding that functional integrity of the cell surface-targeted molecular complex of cathepsin A, neuraminidase-1 and the elastin-binding protein (spliced variant of β-galactosidase) is prerequisite for the normal assembly of elastic fibers. Importantly, we also found that elastic fiber production was increased after exposure either to losartan, spironolactone, or dexamethasone. Of immediate clinical relevance, our data suggest that surviving patients with galactosialidosis should have periodic assessment of their pulmonary function. We also encourage further experimental exploration of therapeutic potential of the afore-mentioned elastogenesis-stimulating drugs for the alleviation of pathological processes in galactosialidosis that could be mechanistically linked to impaired deposition of elastic fibers.

  13. Chronic Alcohol Exposure Decreases 53BP1 Protein Levels Leading to a Defective DNA Repair in Cultured Primary Cortical Neurons.

    Romero, Ana M; Palanca, Ana; Ruiz-Soto, Maria; Llorca, Javier; Marín, María P; Renau-Piqueras, Jaime; Berciano, Maria T; Lafarga, Miguel


    Chronic alcohol consumption may cause neurodevelopmental and neurodegenerative disorders. Alcohol neurotoxicity is associated with the production of acetaldehyde and reactive oxygen species that induce oxidative DNA damage. However, the molecular mechanisms by which ethanol disturbs the DNA damage response (DDR), resulting in a defective DNA repair, remain unknown. Here, we have used cultured primary cortical neurons exposed to 50 or 100 mM ethanol for 7 days to analyze the ethanol-induced DDR. Ethanol exposure produced a dose-dependent generation of double strand breaks and the formation of DNA damage foci immunoreactive for the histone γH2AX, a DNA damage marker, and for the ubiquitylated H2A, which is involved in chromatin remodeling at DNA damage sites. Importantly, these DNA damage foci failed to recruit the protein 53BP1, a crucial DNA repair factor. This effect was associated with a drop in 53BP1 mRNA and protein levels and with an inhibition of global transcription. Moreover, ethanol-exposed neurons treated with ionizing radiation (2 Gy) also failed to recruit 53BP1 at DNA damage foci and exhibited a greater vulnerability to DNA lesions than irradiated control neurons. Our results support that defective DNA repair, mediated by the deficient expression and recruitment of 53BP1 to DNA damage sites, represents a novel mechanism involved in ethanol neurotoxicity. The design of therapeutic strategies that increase or stabilize 53BP1 levels might potentially promote DNA repair and partially compensate alcohol neurotoxicity.

  14. Association of pattern reversal VEP parameters with the mean defect of Humphrey visual field in patients of primary open angle glaucoma.

    Kothari, Ruchi; Singh, Ramji; Singh, Smita; Bokariya, Pradeep


    Glaucoma is a chronic, progressive bilateral optic neuropathy which disturbs the structural or functional integrity of the optic nerve that causes characteristic atrophic changes in it, which leads to specific visual field defects over time with loss of visual function. Primary open angle glaucoma (POAG) is the most common form of glaucoma in India and is fast emerging as a major cause of bilateral blindness. This rural hospital based study was conducted to evaluate whether glaucomatous visual field defects particularly the mean defect of Humphrey visual field could be related to VEP parameters of patients having POAG. Visual field by Humphrey perimeter and simultaneous recordings of pattern reversal visual evoked potential (PRVEP) were assessed in 100 patients with POAG. There was a significant (P VEP changes observed by us in POAG patients were consistent with the progressing mean defect quantitatively. Therefore, it can be concluded that the VEP parameters can be useful quantitative indices in the evaluation of glaucomatous visual function damage.

  15. Normal number of CGG repeats in the FMR-1 gene and abnormal incorporation of fibrillin into the extracellular matrix in Lujan Syndrome

    Greenhaw, G.A.; Stone, C.; Milewicz, D. [Univ. of Texas Health Science Center, Houston, TX (United States)


    Lujan syndrome is an X-linked condition that includes mild-to-moderate mental retardation, poor social integration, normal secondary sexual development with normal testicular size, generalized hypotonia, hypernasal voice and dolichostenomelia. Major cardiac complications and lens dislocation have not been reported although severe myopia may occur. All reported cases have had negative cytogenetic screening for fra(X) syndrome but establishing this constellation of findings as a distinctive entity has been difficult. We report 4 males in two sibships with clinical findings consistent with Lujan syndrome, normal karyotypes, negative cytogenetic screening for fra(X) syndrome and a normal number of CGG repeats in the FMR-1 gene. Dermal fibroblasts explanted from one of the affected males were used to study fibrillin synthesis secretion and extracellular matrix incorporation into microfibrils. Cells from the affected individual showed normal synthesis and secretion of fibrillin when compared to control cells, but the fibrillin was not incorporated into the extracellular matrix. These results suggest the presence of a gene on the X chromosome which may play a role in microfibril assembly and when deficient may disrupt the incorporation of fibrillin into microfibrils. This may be important not only in normal body morphogenesis but also in the development/function of the brain. More affected individuals are needed to investigate these findings further.

  16. Cell adhesion to fibrillin-1: identification of an Arg-Gly-Asp-dependent synergy region and a heparin-binding site that regulates focal adhesion formation

    Bax, Daniel V; Mahalingam, Yashithra; Cain, Stuart;


    We have defined the molecular basis of cell adhesion to fibrillin-1, the major structural component of extracellular microfibrils that are associated with elastic fibres. Using human dermal fibroblasts, and recombinant domain swap fragments containing the Arg-Gly-Asp motif, we have demonstrated a...

  17. The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

    Hilhorst-Hofstee, Yvonne; Rijlaarsdam, Marry E. B.; Scholte, Arthur J. H. A.; Swart-van den Berg, Marietta; Versteegh, Michel I. M.; van der Schoot-van Velzen, Iris; Schaebitz, Hans-Joachim; Bijlsma, Emilia K.; Baars, Marieke J.; Kerstjens-Frederikse, Wilhelmina S.; Giltay, Jacques C.; Hamel, Ben C.; Breuning, Martijn H.; Pals, Gerard


    Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin-1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index

  18. New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.

    Jensen, Sacha A; Handford, Penny A


    The 10-12 nm diameter microfibrils of the extracellular matrix (ECM) impart both structural and regulatory properties to load-bearing connective tissues. The main protein component is the calcium-dependent glycoprotein fibrillin, which assembles into microfibrils at the cell surface in a highly regulated process involving specific proteolysis, multimerization and glycosaminoglycan interactions. In higher metazoans, microfibrils act as a framework for elastin deposition and modification, resulting in the formation of elastic fibres, but they can also occur in elastin-free tissues where they perform structural roles. Fibrillin microfibrils are further engaged in a number of cell matrix interactions such as with integrins, bone morphogenetic proteins (BMPs) and the large latent complex of transforming growth factor-β (TGFβ). Fibrillin-1 (FBN1) mutations are associated with a range of heritable connective disorders, including Marfan syndrome (MFS) and the acromelic dysplasias, suggesting that the roles of 10-12 nm diameter microfibrils are pleiotropic. In recent years the use of molecular, cellular and whole-organism studies has revealed that the microfibril is not just a structural component of the ECM, but through its network of cell and matrix interactions it can exert profound regulatory effects on cell function. In this review we assess what is known about the molecular properties of fibrillin that enable it to assemble into the 10-12 nm diameter microfibril and perform such diverse roles.

  19. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

    Mohammad Al-Haggar


    Full Text Available Marfan syndrome (MFS, the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 ( FBN1 and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.

  20. Mechanisms by which a lack of germinal vesicle (GV) material causes oocyte meiotic defects: a study using oocytes manipulated to replace GV with primary spermatocyte nuclei.

    Zhang, Jie; Cui, Wei; Li, Qing; Wang, Tian-Yang; Sui, Hong-Shu; Wang, Jun-Zuo; Luo, Ming-Jiu; Tan, Jing-He


    Oocytes with germinal vesicles (GVs) replaced with somatic nuclei exhibit meiotic abnormalities. Although this suggests an exclusive role for GV material in meiosis, mechanisms by which a lack of GV material causes meiotic defects are unknown. Knowledge of these mechanisms will help us to understand meiotic control, nuclear-cytoplasmic interactions, and cellular reprogramming. This study showed that although oocytes with prometaphase I chromosomes replaced with primary spermatocyte nuclei (PSN) did not, oocytes with GV replaced with PSN (PSG oocytes) did display meiotic defects. Among the defects, insufficient chromosome condensation with chromosome bridges was associated with spindle abnormalities. Abnormal spindle migration, cortical nonpolarization, and the aberrant spindle caused randomly positioning of cleavage furrows, leading to large first polar bodies (PB1) and unequal allocation of chromosomes and mitogen-activated protein kinases (MAPK) between oocyte and PB1. Spindle assembly checkpoint was activated but did not stop the incorrect division. The unequal MAPK allocation resulted in differences in pronuclear formation and PB1 degeneration; oocytes receiving more MAPK were more capable of forming pronuclear rudiments, whereas PB1 receiving more MAPK degenerated sooner than those that received less. Because none of the PSG oocytes or the enucleated GV oocytes injected with sperm heads showed cortical polarization in spite of chromosome localization close to the oolemma and because the PSG oocytes receiving more MAPK could form only pronuclear rudiments and not normal pronuclei, we suggest that the GV material plays essential roles in polarization and pronuclear formation on top of those played by chromosomes or MAPK. In conclusion, using PSG oocytes as models, this study has revealed the primary pathways by which a lack of GV material cause meiotic defects, laying a foundation for future research on the role of GV material in oocyte meiotic control.

  1. A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

    Casey, Jillian P


    Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. We recently reported the identification of three disease-causing PCD genes in the Irish Traveller population; RSPH4A, DYX1C1 and CCNO. We have since assessed an additional Irish Traveller family with a complex phenotype involving PCD who did not have any of the previously identified PCD mutations.

  2. Evaluation of Anti-aging Compounds Using the Promoters of Elastin and Fibrillin-1 Genes Combined with a Secreted Alkaline Phosphatase Reporter in Normal Human Fibroblasts.

    Lin, Chih-Chien; Yang, Chao-Hsun; Kuo, Wan-Ting; Chen, Cheng-Yu


    Elastic fibers are major constituents of the extracellular matrix (ECM) in dynamic tissues in the human body, and regulation of elastin and fibrillin-1 expression mediates the formation of these fibers. Traditional assays for the measurement of elastin and fibrillin-1, such as western blotting, Luna staining and immunostaining, are relatively complex and time-consuming. Thus, a relatively simple assay system that also provides rational results is urgently needed. In the study, we aimed to develop a human cell-based assay system that can be used to analyze functional compounds using the promoters of elastin (ELN) and fibrillin-1 (FBN1) genes integrated with a secreted alkaline phosphatase (SEAP) reporter in normal human fibroblast cells. We used this system to assess anti-aging compounds. We used several regulators of elastinogenesis, including retinol, coenzyme Q10, deoxyArbutin and Elestan(TM) (Manilkara multinervis leaf extract), to verify the efficacy of this assay system. Our results demonstrate that this assay system can be used as a fast and realistic method for identifying anti-aging components for future use in foods, cosmetics and drugs.

  3. Myocardial perfusion defects and the left ventricular ejection fraction disclosed by scintigraphy in patients with primary hyperparathyroidism

    Ogard, Christina Gerlach; Søndergaard, Susanne Bonnichsen; Jakobsen, Henrik


    Patients with primary hyperparathyroidism (PHPT) have increased risk of cardiovascular disease. For patients undergoing preoperative parathyroid imaging with 99mTc-sestamibi single photon emission computed tomography (SPECT), we combined cervical SPECT and gated cardiac SPECT to achieve informati...

  4. The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma.

    Janey L Wiggs

    Full Text Available BACKGROUND: Loss of vision in glaucoma is due to apoptotic retinal ganglion cell loss. While p53 modulates apoptosis, gene association studies between p53 variants and glaucoma have been inconsistent. In this study we evaluate the association between a p53 variant functionally known to influence apoptosis (codon 72 Pro/Arg and the subset of primary open angle glaucoma (POAG patients with early loss of central visual field. METHODS: Genotypes for the p53 codon 72 polymorphism (Pro/Arg were obtained for 264 POAG patients and 400 controls from the U.S. and in replication studies for 308 POAG patients and 178 controls from Australia (GIST. The glaucoma patients were divided into two groups according to location of initial visual field defect (either paracentral or peripheral. All cases and controls were Caucasian with European ancestry. RESULTS: The p53-PRO/PRO genotype was more frequent in the U.S. POAG patients with early visual field defects in the paracentral regions compared with those in the peripheral regions or control group (p=2.7 × 10(-5. We replicated this finding in the GIST cohort (p  =7.3 × 10(-3, and in the pooled sample (p=6.6 × 10(-7 and in a meta-analysis of both the US and GIST datasets (1.3 × 10(-6, OR 2.17 (1.58-2.98 for the PRO allele. CONCLUSIONS: These results suggest that the p53 codon 72 PRO/PRO genotype is potentially associated with early paracentral visual field defects in primary open-angle glaucoma patients.

  5. Correlations of carotenoid content and transcript abundances for fibrillin and carotenogenic enzymes in Capsicum annum fruit pericarp.

    Kilcrease, James; Rodriguez-Uribe, Laura; Richins, Richard D; Arcos, Juan Manuel Garcia; Victorino, Jesus; O'Connell, Mary A


    The fruits of Capsicum spp. are especially rich sites for carotenoid synthesis and accumulation, with cultivar-specific carotenoid accumulation profiles. Differences in chromoplast structure as well as carotenoid biosynthesis are correlated with distinct carotenoid accumulations and fruit color. In the present study, the inheritance of chromoplast shape, carotenoid accumulation profiles, and transcript levels of four genes were measured. Comparisons of these traits were conducted using fruit from contrasting variants, Costeño Amarillo versus Costeño Red, and from F1 hybrids; crosses between parental lines with novel versions of these traits. Intermediate chromoplast shapes were observed in the F1, but no association between specific carotenoid accumulation and chromoplast shape was detected. Increased total carotenoid content was associated with increased β-carotene and violaxanthin content. Transcript levels for phytoene synthase (Psy) and β-carotene hydroxylase (CrtZ-2) were positively correlated with increased levels of specific carotenoids. No correlation was detected between transcript levels of capsanthin/capsorubin synthase (Ccs) and carotenoid composition or chromoplast shape. Transcript levels of fibrillin, were differentially correlated with specific carotenoids, negatively correlated with accumulation of capsanthin, and positively correlated with violaxanthin. The regulation of carotenoid accumulation in chromoplasts in Capsicum fruit continues to be a complex process with multiple steps for control.

  6. Purification and growth of melanocortin 1 receptor (Mc1r)- defective primary murine melanocytes is dependent on stem cell factor (SFC) from keratinocyte-conditioned media.

    Scott, Timothy L; Wakamatsu, Kazumasa; Ito, Shosuke; D'Orazio, John A


    The melanocortin 1 receptor (MC1R) is a transmembrane G(s)-coupled surface protein found on melanocytes that binds melanocyte-stimulating hormone and mediates activation of adenylyl cyclase and generation of the second messenger cyclic AMP (cAMP). MC1R regulates growth and differentiation of melanocytes and protects against carcinogenesis. Persons with loss-offunction polymorphisms of MC1R tend to be UV-sensitive (fair-skinned and with a poor tanning response) and are at high risk for melanoma. Mechanistic studies of the role of MC1R in melanocytic UV responses, however, have been hindered in part because Mc1r-defective primary murine melanocytes have been difficult to culture in vitro. Until now, effective growth of murine melanocytes has depended on cAMP stimulation with adenylyl cyclase-activating or phosphodiesterase-inhibiting agents. However, rescuing cAMP in the setting of defective MC1R signaling would be expected to confound experiments directly testing MC1R function on melanocytic UV responses. In this paper, we report a novel method of culturing primary murine melanocytes in the absence of pharmacologic cAMP stimulation by incorporating conditioned supernatants containing stem cell factor derived from primary keratinocytes. Importantly, this method seems to permit similar pigment expression by cultured melanocytes as that found in the skin of their parental murine strains. This novel approach will allow mechanistic investigation into MC1R's role in the protection against UV-mediated carcinogenesis and determination of the role of melanin pigment subtypes on UV-mediated melanocyte responses.

  7. Defective secretion of mucilage is the cellular basis for agravitropism in primary roots of Zea mays cv. Ageotropic

    Miller, I.; Moore, R.


    Root caps of primary, secondary, and seminal roots of Z. mays cv. Kys secrete large amounts of mucilage and are in close contact with the root all along the root apex. These roots are strongly graviresponsive. Secondary and seminal roots of Z. mays cv. Ageotropic are also strongly graviresponsive. Similarly, their caps secrete mucilage and closely appress the root all along the root apex. However, primary roots of Z. mays cv. Ageotropic are non-responsive to gravity. Their caps secrete negligible amounts of mucilage and contact the root only at the extreme apex of the root along the calyptrogen. These roots become graviresponsive when their tips are coated with mucilage or mucilage-like materials. Peripheral cells of root caps of roots of Z. mays cv. Kys contain many dictyosomes associated with vesicles that migrate to and fuse with the plasmalemma. Root-cap cells of secondary and seminal (i.e. graviresponsive) roots of Z. mays cv. Ageotropic are similar to those of primary roots of Z. mays cv. Kys. However, root-cap cells of primary (i.e. non-graviresponsive) roots of Z. mays cv. Ageotropic have distended dictyosomal cisternae filled with an electron-dense, granular material. Large vesicles full of this material populate the cells and apparently do not fuse with the plasmalemma. Taken together, these results suggest that non-graviresponsiveness of primary roots of Z. mays cv. Ageotropic results from the lack of apoplastic continuity between the root and the periphery of the root cap. This is a result of negligible secretion of mucilage by cells along the edge of the root cap which, in turn, appears to be due to the malfunctioning of dictyosomes in these cells.

  8. Hypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2 Deficiency

    Hong-Bo Zhao


    Full Text Available K+-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2 mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K+ ions after hair cell excitation, causing accumulation of K+-ions in the extracellular space around hair cells producing K+-toxicity, which eventually induces hair cell degeneration and hearing loss. However, this hypothesis has never been directly evidenced, even though it has been widely referred to. Recently, more and more experiments demonstrate that this hypothesis may not be a deafness mechanism underlying Cx26 deficiency. In this review article, we summarized recent advances on the K+-recycling and mechanisms underlying Cx26 deficiency induced hearing loss. The mechanisms underlying K+-sinking, which is the first step for K+-recycling in the cochlea, and Cx26 deficiency induced cochlear developmental disorders, which are responsible for Cx26 deficiency induced congenital deafness and associated with disruption of permeability of inner ear gap junctional channels to miRNAs, are also summarized and discussed.

  9. IL-23 p19 knockout mice exhibit minimal defects in responses to primary and secondary infection with Francisella tularensis LVS.

    Sherry L Kurtz

    Full Text Available Our laboratory's investigations into mechanisms of protective immunity against Francisella tularensis Live Vaccine Strain (LVS have uncovered mediators important in host defense against primary infection, as well as those correlated with successful vaccination. One such potential correlate was IL-12p40, a pleiotropic cytokine that promotes Th1 T cell function as part of IL-12p70. LVS-infected IL-12p40 deficient knockout (KO mice maintain a chronic infection, but IL-12p35 KO mice clear LVS infection; thus the role that IL-12p40 plays in immunity to LVS is independent of the IL-12p70 heterodimer. IL-12p40 can also partner with IL-23p19 to create the heterodimeric cytokine IL-23. Here, we directly tested the role of IL-23 in LVS resistance, and found IL-23 to be largely dispensable for immunity to LVS following intradermal or intranasal infection. IL-23p19 KO splenocytes were fully competent in controlling intramacrophage LVS replication in an in vitro overlay assay. Further, antibody responses in IL-23p19 KO mice were similar to those of normal wild type mice after LVS infection. IL-23p19 KO mice or normal wild type mice that survived primary LVS infection survived maximal doses of LVS secondary challenge. Thus p40 has a novel role in clearance of LVS infection that is unrelated to either IL-12 or IL-23.

  10. Transcriptional profiling of myotubes from patients with type 2 diabetes: no evidence for a primary defect in oxidative phosphorylation genes

    Frederiksen, C M; Højlund, K; Hansen, L;


    . It is unknown whether reduced mitochondrial biogenesis or other transcriptional alterations co-exist with impaired insulin responsiveness in primary human muscle cells from patients with type 2 diabetes. METHODS: Using cDNA microarray technology and global pathway analysis with the Gene Map Annotator...... and Pathway Profiler (GenMapp 2.1) and Gene Set Enrichment Analysis (GSEA 2.0.1), we examined transcript levels in myotubes established from obese patients with type 2 diabetes and matched obese healthy participants, who had been extensively metabolically characterised both in vivo and in vitro. We have...... previously reported reduced basal lipid oxidation and impaired insulin-stimulated glycogen synthesis and glucose oxidation in these diabetic myotubes. RESULTS: No single gene was differently expressed after correction for multiple testing, and no biological pathway was differently expressed using either...

  11. A comprehensive evaluation of food fortification with folic acid for the primary prevention of neural tube defects

    Lam Angeline


    Full Text Available Abstract Background Periconceptional use of vitamin supplements containing folic acid reduces the risk of a neural tube defect (NTD. In November 1998, food fortification with folic acid was mandated in Canada, as a public health strategy to increase the folic acid intake of all women of childbearing age. We undertook a comprehensive population based study in Newfoundland to assess the benefits and possible adverse effects of this intervention. Methods This study was carried out in women aged 19–44 years and in seniors from November 1997 to March 1998, and from November 2000 to March 2001. The evaluation was comprised of four components: I Determination of rates of NTDs; II Dietary assessment; III Blood analysis; IV Assessment of knowledge and use of folic acid supplements. Results The annual rates of NTDs in Newfoundland varied greatly between 1976 and 1997, with a mean rate of 3.40 per 1,000 births. There was no significant change in the average rates between 1991–93 and 1994–97 (relative risk [RR] 1.01, 95% confidence interval [CI] 0.76–1.34. The rates of NTDs fell by 78% (95% CI 65%–86% after the implementation of folic acid fortification, from an average of 4.36 per 1,000 births during 1991–1997 to 0.96 per 1,000 births during 1998–2001 (RR 0.22, 95% CI 0.14–0.35. The average dietary intake of folic acid due to fortification was 70 μg/day in women aged 19–44 years and 74 μg/day in seniors. There were significant increases in serum and RBC folate levels for women and seniors after mandatory fortification. Among seniors, there were no significant changes in indices typical of vitamin B12 deficiencies, and no evidence of improved folate status masking haematological manifestations of vitamin B12 deficiency. The proportion of women aged 19–44 years taking a vitamin supplement containing folic acid increased from 17% to 28%. Conclusions Based on these findings, mandatory food fortification in Canada should continue at the

  12. A sensitive test for the detection of specific DSB repair defects in primary cells from breast cancer specimens.

    Keimling, Marlen; Kaur, Jatinder; Bagadi, Sarangadhara Appala Raju; Kreienberg, Rolf; Wiesmüller, Lisa; Ralhan, Ranju


    Increasing evidence indicates that breast cancer pathogenesis is linked with DNA double-strand break (DSB) repair dysfunction. This conclusion is based on advances in the study of functions of breast cancer susceptibility genes such as BRCA1 and BRCA2, on the identification of breast cancer-associated changes regarding the genetics, expression, and localization of multiple DSB repair factors, and on observations indicating enhanced radiation-induced chromosomal damage in cells from predisposed individuals and sporadic breast cancer patients. In this pilot study, we describe a sensitive method for the analysis of DSB repair functions in mammary carcinomas. Using this method we firstly document alterations in pathway-specific DSB repair activities in primary cells originating from familial as well as sporadic breast cancer. In particular, we identified increases in the mutagenic nonhomologous end joining and single-strand annealing mechanisms in sporadic breast cancers with wild-type BRCA1 and BRCA2, and, thus, similar phenotypes to tumors with mutant alleles of BRCA1 and BRCA2. This suggests that detection of error-prone DSB repair activities may be useful to extend the limits of genotypic characterization of high-risk susceptibility genes. This method may, therefore, serve as a marker for breast cancer risk assessment and, even more importantly, for the prediction of responsiveness to targeted therapies such as to inhibitors of poly(ADP-ribose)polymerase (PARP1).

  13. Correlation Between Quadrant Specific Automatic Visual Field Defect and Retinal Nerve Fiber Layer Thickness as Measured by Scanning Laser Polarimetry in Patients With Primary Open Angle Glaucoma

    Yo-Chen Chang


    Full Text Available The purpose of this study was to correlate quadrant specific Humphrey visual field mean deviation (MD with retinal nerve fiber layer (RNFL thickness as measured by scanning laser polarimetry (GDx, and to determine whether there is a difference in the correlation with visual field defect between the Asian normative database provided by GDx (GDx database and our native normative database (KMU database. In an age-matched study, a control group of 240 normal eyes underwent GDx. Another 60 eyes with visual field defect due to primary angle glaucoma underwent autoperimetry and GDx examination. First, we compared four GDx measurements between the control and study groups. Next, we divided the visual field into four quadrants (superior, inferior, temporal, nasal and calculated the MD of each quadrant. We correlated the MD of superior, inferior and overall visual field with RNFL thickness judged by two databases (the GDx Asian internal normative database and the database from our control group. GDx detected abnormal RNFL thickness significantly more accurately when using the KMU database (p = 0.0473 for superior quadrant; p = 0.0074 for inferior quadrant; p = 0.0011 for average thickness than when using the GDx database. There was no significant difference in the specificity between these two databases. The normal ranges in the GDx internal normative database for Asians are too wide. By using our own GDx normative database, the correlations with MD of autoperimetry were significantly improved. We suggest that every laboratory and clinic establish its own normative database of GDx in Asia.

  14. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

    Austin-Tse, Christina; Halbritter, Jan; Zariwala, Maimoona A.; Gilberti, Renée M.; Gee, Heon Yung; Hellman, Nathan; Pathak, Narendra; Liu, Yan; Panizzi, Jennifer R.; Patel-King, Ramila S.; Tritschler, Douglas; Bower, Raqual; O’Toole, Eileen; Porath, Jonathan D.; Hurd, Toby W.; Chaki, Moumita; Diaz, Katrina A.; Kohl, Stefan; Lovric, Svjetlana; Hwang, Daw-Yang; Braun, Daniela A.; Schueler, Markus; Airik, Rannar; Otto, Edgar A.; Leigh, Margaret W.; Noone, Peadar G.; Carson, Johnny L.; Davis, Stephanie D.; Pittman, Jessica E.; Ferkol, Thomas W.; Atkinson, Jeffry J.; Olivier, Kenneth N.; Sagel, Scott D.; Dell, Sharon D.; Rosenfeld, Margaret; Milla, Carlos E.; Loges, Niki T.; Omran, Heymut; Porter, Mary E.; King, Stephen M.; Knowles, Michael R.; Drummond, Iain A.; Hildebrandt, Friedhelm


    Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations account for only 65% of cases, suggesting that many genes essential for cilia function remain to be discovered. By using zebrafish morpholino knockdown of PCD candidate genes as an in vivo screening platform, we identified c21orf59, ccdc65, and c15orf26 as critical for cilia motility. c21orf59 and c15orf26 knockdown in zebrafish and planaria blocked outer dynein arm assembly, and ccdc65 knockdown altered cilia beat pattern. Biochemical analysis in Chlamydomonas revealed that the C21orf59 ortholog FBB18 is a flagellar matrix protein that accumulates specifically when cilia motility is impaired. The Chlamydomonas ida6 mutant identifies CCDC65/FAP250 as an essential component of the nexin-dynein regulatory complex. Analysis of 295 individuals with PCD identified recessive truncating mutations of C21orf59 in four families and CCDC65 in two families. Similar to findings in zebrafish and planaria, mutations in C21orf59 caused loss of both outer and inner dynein arm components. Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65. PMID:24094744

  15. Birth Defects

    A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of ... in the United States is born with a birth defect. A birth defect may affect how the ...

  16. 原发性闭角型青光眼视野损害的特点%Charactistics of visual field defects in primary angle-closure glaucoma

    韩芳; 袁援生


    Objective To determine the difference of visual field defects between acute angle-closure glaucoma (AACG) and chronic angle-closure glaucoma (CACG) and to analyze the difference in the changes of visual field between primary angle-closure glaucoma (PACG) and primary open angle glaucoma (POAG). Methods This retrospective case series study consisted of 53 patients with CACG,42 with AACG, and 42 with POAG. Visual field tests were examined using the 30-2 threshold program of the Humphrey Visual Field Analyzer. All cases with eligible visual fields were scored from 1 to 11 with the modified criterion used by Advanced Glaneoma Intervention Study (AGIS seures, mild groups: 1-5 and moderate groups: 6-11). An upper hemifields, lower hemifields, nasal area and overall field, mean defect (MD) and pattern standard deviation (PSD) were calculated and compared among the three glaucoma groups. The differenee in central 10°(12 points) of visual field damage, the nasal area, and the most defect quadrant of static visual field in each groups were evaluated. All analyses were performed with SAS 9.1 software. The factor analysis was used to analyze significant differences in mean defect (MD), pattern standard deviation (PSD), VF scores of nasal area and overal field among the three glaucoma groups. Analysis of variance were assessed differences between VF scores of the superior hemifield and the inferior hemifield. The differences in central 10° of visual field damage,the nasal area and the most defect quadrant of static visual field in each groups were examined using a chi-square test. P<0.05 were considered to be statistically significant. Results (1) VF scores with inferior hemifieid in POAG were lower than in CACG (t=4.24, P=0.0000) and in AACC(t=3.28, P=0.0013); There were no significant differences of VF seores between the superior hemifieid and the inferior hemifield in CACG (t=1.35, P=0.1808) and AACG (t=0.55, P=0.5824). There was found a significant differences of VF scores

  17. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects : clinical communication

    J.H. Williams


    Full Text Available Lymphangiosarcoma is an extremely rare tumour in dogs with only 16 cases reported in the literature. Lymphoedema, whichmaybe primary due to defects in the lymphatic system, or secondary to various other pathologies, often precedes malignancy. Of the 16 canine reports, only 1 dog was confirmed as having had prior primary lymphoedema due to aplasia of the popliteal lymph nodes. A case of lymphangiosarcoma is described in a 3.5-year-old purebred, Bullmastiff bitch which presented with vaginal blood 'spotting' for 3 weeks after cessation of oestrus, during which intromission by the male had been unsuccessful. During ovariohysterectomy a large multicystic, proliferative, spongy, fluid-filled, brownish-red mass surrounding the cervix and projecting into the abdominal space was removed with the cervix, and a diagnosis of lymphangiosarcoma made on histological and electron microscopic examination of the tissue. Ultrastructurally, no basement membrane or pericytes were found, only some of the neoplastic endothelial cells were linked by tight junctions while there were gaps between others, and neither micropinocytotic vesicles nor Weibel-Palade bodies occurred in the cells examined.Very few of the endothelial cells lining the many interlinking, tortuous maze of channels, stained slightly positive immunohistochemically for factor VIII-related antigen. The channels were filled mostly with serous fluid, and occasionally mixed leucocytes and some erythrocytes. The endothelium was often associated with underlying blocks of collagenous material, as well as looselyarranged aggregates of lymphocytes, other mononuclear cells and occasional neutrophils in the connective tissue septae and more prominently perivascularly. The bitch was discharged on antibiotic treatment but returned 2 weeks later with apparent prolapsed vagina which failed to reduce over the next week. Laparotomy revealed the tumour to have spread extensively in the caudal abdomen to involve the

  18. Primary defects in beta-cell function further exacerbated by worsening of insulin resistance mark the development of impaired glucose tolerance in obese adolescents.

    Cali, Anna M G; Man, Chiara Dalla; Cobelli, Claudio; Dziura, James; Seyal, Aisha; Shaw, Melissa; Allen, Karin; Chen, Shu; Caprio, Sonia


    Impaired glucose tolerance (IGT) is a pre-diabetic state of increasing prevalence among obese adolescents. The purpose of this study was to determine the natural history of progression from normal glucose tolerance (NGT) to IGT in obese adolescents. We determined the evolution of beta-cell function, insulin sensitivity (S(I)), and glucose tolerance in a multiethnic group of 60 obese adolescents over the course of approximately 30 months. Each subject underwent three serial 3-h oral glucose tolerance tests. Dynamic, static, and total beta-cell responsivity (Phi(d), Phi(s), and Phi(tot), respectively) and S(i) were assessed by oral C-peptide and glucose minimal models. The disposition index (DI), which adjusts insulin secretion for S(i), was calculated. At baseline, all 60 subjects had NGT. Seventy-seven percent (46 subjects) maintained NGT over the three testing periods (nonprogressors), whereas 23% (14 subjects) developed IGT over time (progressors). At baseline, percent fat and BMI Z score were comparable between the groups. Fasting plasma glucose, 2-h glucose, glucose area under the curve at 180 min, and Phi(d) were significantly different between the two groups at baseline, whereas S(i) was comparable between the two groups. Over time, although S(i) remained unchanged in nonprogressors, it steadily worsened by approximately 45% (P > 0.04) in progressors. beta-Cell responsivity decreased by 20% in progressors, whereas it remained stable in nonprogressors. The DI showed a progressive decline in progressors compared with a modest improvement in nonprogressors (P = 0.02). Obese adolescents who progress to IGT may manifest primary defects in beta-cell function. In addition, progressive decline in S(i) further aggravates beta-cell function, contributing to the worsening of glucose intolerance.

  19. Primary Defects in β-Cell Function Further Exacerbated by Worsening of Insulin Resistance Mark the Development of Impaired Glucose Tolerance in Obese Adolescents

    Cali, Anna M.G.; Man, Chiara Dalla; Cobelli, Claudio; Dziura, James; Seyal, Aisha; Shaw, Melissa; Allen, Karin; Chen, Shu; Caprio, Sonia


    OBJECTIVE—Impaired glucose tolerance (IGT) is a pre-diabetic state of increasing prevalence among obese adolescents. The purpose of this study was to determine the natural history of progression from normal glucose tolerance (NGT) to IGT in obese adolescents. RESEARCH DESIGN AND METHODS—We determined the evolution of β-cell function, insulin sensitivity (SI), and glucose tolerance in a multiethnic group of 60 obese adolescents over the course of approximately 30 months. Each subject underwent three serial 3-h oral glucose tolerance tests. Dynamic, static, and total β-cell responsivity (Φd, Φs, and Φtot, respectively) and Si were assessed by oral C-peptide and glucose minimal models. The disposition index (DI), which adjusts insulin secretion for Si, was calculated. RESULTS—At baseline, all 60 subjects had NGT. Seventy-seven percent (46 subjects) maintained NGT over the three testing periods (nonprogressors), whereas 23% (14 subjects) developed IGT over time (progressors). At baseline, percent fat and BMI Z score were comparable between the groups. Fasting plasma glucose, 2-h glucose, glucose area under the curve at 180 min, and Φd were significantly different between the two groups at baseline, whereas Si was comparable between the two groups. Over time, although Si remained unchanged in nonprogressors, it steadily worsened by ∼45% (P > 0.04) in progressors. β-Cell responsivity decreased by 20% in progressors, whereas it remained stable in nonprogressors. The DI showed a progressive decline in progressors compared with a modest improvement in nonprogressors (P = 0.02). CONCLUSIONS—Obese adolescents who progress to IGT may manifest primary defects in β-cell function. In addition, progressive decline in Si further aggravates β-cell function, contributing to the worsening of glucose intolerance. PMID:19106382

  20. 早产对脑性瘫痪儿童乳牙釉质发育的影响%The developmental enamel defects in the primary dentition of cerebral palsied children with premature birth

    林小波; 张笋; 吴卫红; 吴志文


    目的 研究早产因素对脑瘫儿童乳牙釉质发育缺陷的影响.方法 选择135名脑瘫患儿,与62名正常儿童对比,进行乳牙釉质发育缺陷状况的统计调查.同时比较脑瘫儿童中早产与乳牙釉质发育缺陷发生的关系.结果 脑瘫儿童组中早产儿童乳牙釉质发育缺陷的患病率明显高于足月组,有统计学差异(P<0.05).结论 早产的脑瘫儿童更容易发生乳牙釉质发育缺陷.%Objective To investigate the developmental enamel defects in the primary dentition of cerebral palsied children with premature birth. Methods One hundred and thirty-five children with cerebral palsy were examined for the clinical manifestation of the developmental enamel defects in the primary dentition. The relationship between the defects and cerebral palsied children's birth conditions were assessed. Results The prevalence of enamel defects in cerebral palsied children born premarurely was significantly higher than that in those with full term birth. Conclusion Enamel defects in the primary dentition are more likely to happen in cerebral palsied children with premature birth than those with full term birth.

  1. Plunging ranulas revised: A CT study with emphasis on a defect of the mylohyoid muscle as the primary route of lesion propagation

    Lee, Ji Young; Lee, He Young; Kim, Hyung Jin; Jeong, Han Sin; Kim, Yi Kyung; Cha, Ji Hoon; Kim, Sung Tae [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)


    The purpose of this study was to clarify the pathogenesis of plunging ranulas in regard of the pathway of lesion propagation using CT scans. We retrospectively reviewed CT scans of 41 patients with plunging ranula. We divided plunging ranulas into two types: type 1 was defined as those directly passing through a defect of the mylohyoid muscle with the presence (type 1A) or absence (type 1B) of the tail sign and type 2 as those through the traditional posterior route along the free edge of the mylohyoid muscle. Images were also analyzed for the extent of the lesion in respect to the spaces involved. As for type 1 lesions, we recorded the location of the defect of the mylohyoid muscle and the position of the sublingual gland in relation to the defect. CT scans demonstrated type 1 lesion in 36 (88%), including type 1A in 14 and type 1B in 22, and type 2 lesion in 5 (12%). Irrespective of the type, the submandibular space was seen to be involved in all cases either alone or in combination with one or more adjacent spaces. Of the 36 patients with type 1 lesions, the anterior one-third was the most common location of the defect of the mylohyoid muscle, seen in 22 patients. The sublingual gland partially herniated in 30 patients. Our results suggest that the majority of plunging ranulas take an anterior shortcut through a defect of the mylohyoid muscle.

  2. 叶酸补充在出生缺陷一级预防措施中的应用%Use of folic acid in the primary prevention of birth defects



      to eliminate the cause of diseases, prevent the occurrence of birth defects and improve the quality of newborns.Approach:Giving 1480 cases of women at childbearing age from pre-pregnancy or early stage of pregnancy a small dose of folic acid tablets"Serianen", as well as educational materials about the prevention of birth defects and eugenic trainings from January 2008 to December 2010.Results: the follow-up surveys on the 1480 cases of women after childbirth show, that non of their newborns has got birth defects such as neural tube defect or congenital heart disease, which means the preventive measures are 100% effective.Conclusion: Folic acid can effectively prevent birth defects such as neural tube defect and congenital heart disease. At the same time, the key of prevention of birth defects lies in taking primary preventive measures.%  目的:探讨叶酸补充在出生缺陷一级预防措施中的应用价值,预防出生缺陷的发生,提高人口出生素质。方法:2008年1月至2010年12月,让我区1480例准备生育的育龄女性从孕前及怀孕早期开始服用小剂量的叶酸增补剂斯利安,并为她们发放预防出生缺陷的宣传资料,对其进行分期优生培训。在1480例女性产后1个月至1年对其进行追踪调查。结果:调查结果显示,本组1480例女性所产小儿无一例发生神经管畸形及先天性心脏病等出生缺陷,预防出生缺陷的有效率为100%。结论:补充叶酸能有效地预防神经管畸形及先天性心脏病等出生缺陷。预防出生缺陷的关键在于采取一级预防措施。

  3. Paravaginal defect

    Arenholt, Louise T S; Pedersen, Bodil Ginnerup; Glavind, Karin;


    , arcus tendineus fascia pelvis (ATFP), pubocervical fascia, and uterosacral/cardinal ligaments. Studies conclude that physical examination is inconsistent in detecting paravaginal defects. Ultrasound (US) and magnetic resonance imaging (MRI) have been used to describe patterns in the appearance...

  4. Defects and defect processes in nonmetallic solids

    Hayes, W


    This extensive survey covers defects in nonmetals, emphasizing point defects and point-defect processes. It encompasses electronic, vibrational, and optical properties of defective solids, plus dislocations and grain boundaries. 1985 edition.

  5. Plunging Ranulas Revisited: A CT Study with Emphasis on a Defect of the Mylohyoid Muscle as the Primary Route of Lesion Propagation

    Lee, Ji Young; Lee, Hee Young; Kim, Hyung-Jin; Jeong, Han Sin; Kim, Yi-Kyung; Cha, Jihoon; Kim, Sung Tae


    Objective The purpose of this study was to clarify the pathogenesis of plunging ranulas in regard of the pathway of lesion propagation using CT scans. Materials and Methods We retrospectively reviewed CT scans of 41 patients with plunging ranula. We divided plunging ranulas into two types: type 1 was defined as those directly passing through a defect of the mylohyoid muscle with the presence (type 1A) or absence (type 1B) of the tail sign and type 2 as those through the traditional posterior ...

  6. Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

    Dirk Hubmacher


    Full Text Available Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD in humans and Musladin–Lueke syndrome (MLS in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint contractures, tracheal-bronchial stenosis and cardiac valve anomalies, whereas MLS is non-lethal and characterized by short stature and severe skin fibrosis. Although most mutations in fibrillin-1 (FBN1 cause Marfan syndrome (MFS, a microfibril disorder leading to transforming growth factor-β (TGFβ dysregulation, domain-specific FBN1 mutations result in dominant GD. ADAMTSL2 has been previously shown to bind FBN1 and latent TGFβ-binding protein-1 (LTBP1. Here, we investigated mice with targeted Adamtsl2 inactivation as a new model for GD (Adamtsl2−/− mice. An intragenic lacZ reporter in these mice showed that ADAMTSL2 was produced exclusively by bronchial smooth muscle cells during embryonic lung development. Adamtsl2−/− mice, which died at birth, had severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in bronchial epithelium resembling the cellular anomalies described previously in GD. An increase in microfibrils in the bronchial wall was associated with increased FBN2 and microfibril-associated glycoprotein-1 (MAGP1 staining, whereas LTBP1 staining was increased in bronchial epithelium. ADAMTSL2 was shown to bind directly to FBN2 with an affinity comparable to FBN1. The observed extracellular matrix (ECM alterations were associated with increased bronchial epithelial TGFβ signaling at 17.5 days of gestation; however, treatment with TGFβ-neutralizing antibody did not correct the epithelial dysplasia. These investigations reveal a new function of ADAMTSL2 in modulating microfibril formation, and a previously unsuspected association with FBN2. Our studies suggest that the bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2−/− mice

  7. Effects of in-cascade defect clustering on near-term defect evolution

    Heinisch, H.L. [Pacific Northwest National Lab., Richland, WA (United States)


    The effects of in-cascade defect clustering on the nature of the subsequent defect population are being studied using stochastic annealing simulations applied to cascades generated in molecular dynamics (MD) simulations. The results of the simulations illustrates the strong influence of the defect configuration existing in the primary damage state on subsequent defect evolution. The large differences in mobility and stability of vacancy and interstitial defects and the rapid one-dimensional diffusion of small, glissile interstitial loops produced directly in cascades have been shown to be significant factors affecting the evolution of the defect distribution. In recent work, the effects of initial cluster sizes appear to be extremely important.

  8. Ultra-high resolution profiles of macular intra-retinal layer thicknesses and associations with visual field defects in primary open angle glaucoma

    Chen, Qi; Huang, Shenghai; Ma, Qingkai; Lin, Huiling; Pan, Mengmeng; Liu, Xinting; Lu, Fan; Shen, Meixiao


    The structural characteristics of the outer retinal layers in primary open angle glaucoma (POAG) are still controversial, and these changes, along with those in the inner retinal layers, could have clinical and/or pathophysiological significance. A custom-built ultra-high resolution optical coherence tomography (UHR-OCT) combined with an automated segmentation algorithm can image and measure the eight intra-retinal layers. The purpose of this study is to determine the thickness characteristics of the macular intra-retinal layers, especially the outer layers, in POAG patients. Thirty-four POAG patients (56 eyes) and 33 normal subjects (63 eyes) were enrolled. Thickness profiles of the eight intra-retinal layers along a 6-mm length centred on the fovea at the horizontal and vertical meridians were obtained and the regional thicknesses were compared between two groups. The associations between the thicknesses of each intra-retinal layer and the macular visual field (VF) sensitivity were then analysed. POAG affected not only the inner retinal layers but also the photoreceptor layers and retinal pigment epithelium of the outer retina. However, the VF loss was correlated mainly with the damage of the inner retinal layers. UHR-OCT with automated algorithm is a useful tool in detecting microstructural changes of macula with respect to the progression of glaucoma.

  9. Ultra-high resolution profiles of macular intra-retinal layer thicknesses and associations with visual field defects in primary open angle glaucoma

    Chen, Qi; Huang, Shenghai; Ma, Qingkai; Lin, Huiling; Pan, Mengmeng; Liu, Xinting; Lu, Fan; Shen, Meixiao


    The structural characteristics of the outer retinal layers in primary open angle glaucoma (POAG) are still controversial, and these changes, along with those in the inner retinal layers, could have clinical and/or pathophysiological significance. A custom-built ultra-high resolution optical coherence tomography (UHR-OCT) combined with an automated segmentation algorithm can image and measure the eight intra-retinal layers. The purpose of this study is to determine the thickness characteristics of the macular intra-retinal layers, especially the outer layers, in POAG patients. Thirty-four POAG patients (56 eyes) and 33 normal subjects (63 eyes) were enrolled. Thickness profiles of the eight intra-retinal layers along a 6-mm length centred on the fovea at the horizontal and vertical meridians were obtained and the regional thicknesses were compared between two groups. The associations between the thicknesses of each intra-retinal layer and the macular visual field (VF) sensitivity were then analysed. POAG affected not only the inner retinal layers but also the photoreceptor layers and retinal pigment epithelium of the outer retina. However, the VF loss was correlated mainly with the damage of the inner retinal layers. UHR-OCT with automated algorithm is a useful tool in detecting microstructural changes of macula with respect to the progression of glaucoma. PMID:28169283

  10. Pre-conception Folic Acid and Multivitamin Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital Anomalies.

    Wilson, R Douglas; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Carroll, June; Cartier, Lola; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Deb-Rinker, Paromita; Dodds, Linda; Leon, Juan Andres; Lowel, Hélène L; Luo, Wei; MacFarlane, Amanda; McMillan, Rachel; Moore, Aideen; Mundle, William; O'Connor, Deborah; Ray, Joel; Van den Hof, Michiel


    Objectif : Offrir des renseignements à jour sur l’utilisation pré et postconceptionnelle d’acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d’autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l’utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed, Medline, CINAHL et la Cochrane Library en janvier 2011 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « folic acid », « prenatal multivitamins », « folate sensitive birth defects », « congenital anomaly risk reduction », « pre-conception counselling »). Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques, et auprès de sociétés de spécialité médicale nationales et internationales. Coûts, risques et avantages : Les coûts financiers sont ceux de la supplémentation quotidienne en vitamines et de la consommation d’un régime alimentaire santé enrichi en folate. Les risques sont ceux qui sont li

  11. Defectos del esmalte, caries en dentición primaria, fuentes de fluoruro y su relación con caries en dientes permanentes Enamel defects, caries in primary dentition and fluoride sources: relationship with caries in permanent teeth

    Ana Alicia Vallejos-Sánchez


    Full Text Available Objetivo: Explorar la relación entre la presencia de defectos del esmalte (DE, la experiencia de caries en la dentición temporal, y la exposición a diversas fuentes de fluoruros, con la presencia de caries en la dentición permanente de niños con dentición mixta. Material y métodos: Se realizó un estudio transversal en 713 sujetos de 6-9 años de edad de 4 escuelas de Campeche, México, mediante un cuestionario dirigido a las madres, y un examen clínico bucal a los niños. La variable dependiente fue la prevalencia de caries en la dentición permanente. Resultados: El promedio de dientes temporales cariados, extraídos y obturados (ceod y dientes permanentes cariados, perdidos y obturados (CPOD fue de 2,48 (2,82 (ceod > 0 = 58,9% y 0,40 (0,98 (CPOD > 0 = 18,2%, respectivamente. El índice SiC (índice de caries significativa, calculado en la dentición temporal fue de 5,85 para los niños de 6 años de edad. En el análisis de regresión logística multivariado permanecieron significativas, después de ajustar por variables de exposición a fluoruros, la mayor edad (odds ratio [OR] = 2,99, el ceod > 0 (OR = 5,46, la menor escolaridad de la madre (OR = 1,57 y una interacción entre sexo y defectos del esmalte. Conclusiones: Las caries en la dentición temporal y permanente fueron relativamente menores que las observaciones publicadas por otros estudios en México. Los resultados confirmaron que la caries en la dentición temporal se asoció fuertemente con la caries en la dentición permanente. No hubo una relación significativa entre las fuentes de fluoruro y la caries dental en la dentición permanente.Objective: To examine the relationship between the presence of enamel defects, dental caries in primary teeth, and exposure to various fluoride technologies and the presence of dental caries in permanent teeth in children with mixed dentition. Materials and methods: A cross-sectional study was conducted in 713 children aged 6-9 years old


    Rudolf Mišičko


    Full Text Available The defects in the continuous casting slabs can be developed or kept down in principle by rolling technology, especially depend to sort, size and distribution of primary defects, as well as used of rolling parameters. Scope of the article is on observation behavior artificial surface and undersurface defects (scores without filler (surface defects and filling by oxides and casting powder (subsurface defects. First phase of hot rolling process have been done by software simulation DEFORM 3D setting to the limited condition for samples with surface defects. Samples of material with low-carbon steel of sizes h x b x l have been chosen and the surface defects shape „U” and „V” of scores have been injected artificially by software. The process of rolling have been simulated on the deformation temperatures 1200°C and 900°C, whereas on the both of this deformation temperatures have been applied amount of deformation 10 and 50 %. With respect to the process of computer simulation, it is not possible to truthful real oxidation condition (physical – chemical process during heat of metal, in the second phase of our investigation have been observed influence of oxides and casting powders inside the scores for a defect behavior in plastic deformation process (hot and cold rolling process in laboratory condition. The basic material was STN steel class 11 375, cladding material was steel on the bases C-Mn-Nb-V. Scores have been filled by scales to get from the heating temperatures (1100°C a 1250°C, varied types of casting powders, if you like mixture of scale and casting powders in the rate 1:4. The joint of the basic and cladding material have been done by peripheral welded joint. Experiment results from both phases are pointed on the evolution of original typology defects in rolling process.

  13. Ventricular septal defect (image)

    Ventricular septal defect is a congenital defect of the heart, that occurs as an abnormal opening in ... wall that separates the right and left ventricles. Ventricular septal defect may also be associated with other ...

  14. Facts about Birth Defects

    ... Button Information For… Media Policy Makers Facts about Birth Defects Language: English (US) Español (Spanish) Recommend ... having a baby born without a birth defect. Birth Defects Are Common Every 4 ½ minutes, a ...

  15. Neural Tube Defects

    Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

  16. Congenital platelet function defects

    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  17. Birth Defects: Cerebral Palsy

    ... defects, premature birth and infant mortality. Solving premature birth Featured articles Accomplishments and lessons learned since the ... and pregnancy Folic acid Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your ...

  18. Atrioventricular Canal Defect

    ... doctor See your doctor if you or your child develops signs or symptoms of atrioventricular canal defect. Atrioventricular canal defect occurs before birth when a baby's heart is developing. Some factors, such as Down syndrome, might increase the risk of atrioventricular canal defect. ...

  19. Topological conformal defects with tensor networks

    Hauru, Markus; Evenbly, Glen; Ho, Wen Wei; Gaiotto, Davide; Vidal, Guifre


    The critical two-dimensional classical Ising model on the square lattice has two topological conformal defects: the Z2 symmetry defect Dɛ and the Kramers-Wannier duality defect Dσ. These two defects implement antiperiodic boundary conditions and a more exotic form of twisted boundary conditions, respectively. On the torus, the partition function ZD of the critical Ising model in the presence of a topological conformal defect D is expressed in terms of the scaling dimensions Δα and conformal spins sα of a distinct set of primary fields (and their descendants, or conformal towers) of the Ising conformal field theory. This characteristic conformal data {Δα,sα}D can be extracted from the eigenvalue spectrum of a transfer matrix MD for the partition function ZD. In this paper, we investigate the use of tensor network techniques to both represent and coarse grain the partition functions ZDɛand ZD σ of the critical Ising model with either a symmetry defect Dɛ or a duality defect Dσ. We also explain how to coarse grain the corresponding transfer matrices MDɛand MD σ, from which we can extract accurate numerical estimates of {Δα,sα}Dɛ and {Δα,sα}Dσ. Two key ingredients of our approach are (i) coarse graining of the defect D , which applies to any (i.e., not just topological) conformal defect and yields a set of associated scaling dimensions Δα, and (ii) construction and coarse graining of a generalized translation operator using a local unitary transformation that moves the defect, which only exist for topological conformal defects and yields the corresponding conformal spins sα.

  20. Defect production in ceramics

    Zinkle, S.J. [Oak Ridge National Lab., TN (United States); Kinoshita, C. [Kyushu Univ. (Japan)


    A review is given of several important defect production and accumulation parameters for irradiated ceramics. Materials covered in this review include alumina, magnesia, spinel silicon carbide, silicon nitride, aluminum nitride and diamond. Whereas threshold displacement energies for many ceramics are known within a reasonable level of uncertainty (with notable exceptions being AIN and Si{sub 3}N{sub 4}), relatively little information exists on the equally important parameters of surviving defect fraction (defect production efficiency) and point defect migration energies for most ceramics. Very little fundamental displacement damage information is available for nitride ceramics. The role of subthreshold irradiation on defect migration and microstructural evolution is also briefly discussed.

  1. Primary Hyperoxaluria

    Jérôme Harambat


    Full Text Available Primary hyperoxalurias (PH are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT resulting in overproduction and excessive urinary excretion of oxalate. Recurrent urolithiasis and nephrocalcinosis are the hallmarks of the disease. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates leading to systemic oxalosis. Diagnosis is often delayed and is based on clinical and sonographic findings, urinary oxalate assessment, DNA analysis, and, if necessary, direct AGT activity measurement in liver biopsy tissue. Early initiation of conservative treatment, including high fluid intake, inhibitors of calcium oxalate crystallization, and pyridoxine in responsive cases, can help to maintain renal function in compliant subjects. In end-stage renal disease patients, the best outcomes have been achieved with combined liver-kidney transplantation which corrects the enzyme defect.

  2. A novel type of developmental dentin defect.

    Lukinmaa, P L; Waltimo, J; Hölttä, P; Risteli, L; Risteli, J; Alaluusua, S


    We describe a developmental dentin disorder distinct from dentin defects characterized thus far. The proband was a 9-year-old boy who was the only family member known to be affected in five generations. The dental defect was not associated with any general disease or developmental disorder. The teeth appeared normal with the exception of the pink hue seen in some primary teeth. Radiographs showed pathological resorption of primary teeth and abnormally shaped pulp chambers and denticles in permanent teeth. Root canals were wide in developing teeth, but appeared thin in erupted teeth. Histological examination of two primary molars revealed canal-like defects in dentin. In the crown, the canals appeared as clusters, which alternated with columns of normal tubular dentin, and in the virtually atubular root dentin they were haphazardly distributed. Scanning electron microscopic examination confirmed the distribution pattern of the canals. In transmission electron microscopy, the defects were found to contain symmetrically banded, segmental collagenous structures. The canal contents immunostained with antibodies to the N-terminal propeptide of type I procollagen, suggesting retention of the propeptide extension in type I collagen. Whereas type III collagen reactivity was barely detectable in the canal region, staining for type V collagen and the non-fibril-forming type VI collagen was strong. The findings imply that the pathogenesis of the defect could be related to a local failure of odontoblasts to produce normal dentin matrix.

  3. Localização e freqüência das alterações de campo visual no glaucoma primário de ângulo aberto na estratégia SITA (Swedish Interactive Threshold Algorithm Location and frequency of visual field defects as measured by SITA (Swedish Interactive Threshold Algorithm strategy in primary open angle glaucoma

    Vanessa Cristina Ruegger Nascimento


    Full Text Available OBJETIVO: Caracterizar os defeitos de campo visual nos exames realizados com o perímetro Humphrey®, estratégia SITA - Swedish Interactive Threshold Algorithm - segundo sua freqüência e localização em pacientes com glaucoma primário de ângulo aberto (GPAA. MÉTODOS: Realizamos análise retrospectiva de 6.200 prontuários. Avaliamos o exame de campo visual dos pacientes que preenchiam os critérios de inclusão e os dividimos em glaucoma leve, moderado e grave de acordo com a classificação de Hodapp. Definimos os seguintes defeitos glaucomatosos: degrau nasal, escotoma paracentral, escotoma arqueado, escotoma Seidel, defeito temporal em cunha, diminuição generalizada de sensibilidade, escotoma anular e campo tubular. Utilizamos diagrama que correlaciona os pontos do campo visual com as regiões do disco óptico e avaliamos as regiões mais acometidas de acordo com a densidade de pontos comprometidos. A análise estatística foi realizada aplicando-se o teste t de Student. RESULTADOS: Selecionamos 152 pacientes com idade média de 66,5±9,6%, sendo 59,9% do sexo feminino. No glaucoma leve o defeito campimétrico mais freqüente foi o degrau nasal superior, seguido respectivamente pelo escotoma paracentral e degrau nasal inferior. A diminuição generalizada de sensibilidade, apesar de rara, ocorreu em 7,8% desses pacientes. A região superior foi mais acometida que a inferior. CONCLUSÃO: O degrau nasal superior e o escotoma paracentral foram os defeitos mais freqüentemente observados no glaucoma primário de ângulo aberto em fase inicial pela estratégia SITA, e o hemicampo superior foi a região mais acometida. A diminuição generalizada de sensibilidade foi defeito glaucomatoso precoce.PURPOSE: To evaluate the frequency, location and pattern of visual field defects as measured by SITA strategy in primary open angle glaucoma (POAG. METHODS: Six thousand and two-hundred charts were reviewed. One hundred and fifty two patients who

  4. Exploring atomic defects in molybdenum disulphide monolayers

    Hong, Jinhua


    Defects usually play an important role in tailoring various properties of two-dimensional materials. Defects in two-dimensional monolayer molybdenum disulphide may be responsible for large variation of electric and optical properties. Here we present a comprehensive joint experiment-theory investigation of point defects in monolayer molybdenum disulphide prepared by mechanical exfoliation, physical and chemical vapour deposition. Defect species are systematically identified and their concentrations determined by aberration-corrected scanning transmission electron microscopy, and also studied by ab-initio calculation. Defect density up to 3.5 × 10 13 cm \\'2 is found and the dominant category of defects changes from sulphur vacancy in mechanical exfoliation and chemical vapour deposition samples to molybdenum antisite in physical vapour deposition samples. Influence of defects on electronic structure and charge-carrier mobility are predicted by calculation and observed by electric transport measurement. In light of these results, the growth of ultra-high-quality monolayer molybdenum disulphide appears a primary task for the community pursuing high-performance electronic devices.

  5. Defects in semiconductors

    Romano, Lucia; Jagadish, Chennupati


    This volume, number 91 in the Semiconductor and Semimetals series, focuses on defects in semiconductors. Defects in semiconductors help to explain several phenomena, from diffusion to getter, and to draw theories on materials' behavior in response to electrical or mechanical fields. The volume includes chapters focusing specifically on electron and proton irradiation of silicon, point defects in zinc oxide and gallium nitride, ion implantation defects and shallow junctions in silicon and germanium, and much more. It will help support students and scientists in their experimental and theoret

  6. Imaging defects and dopants

    H.Philipp Ebert


    With the invention of the transistor, a revolution in the development of semiconductor-based electronic devices began. However, even in the very early stages, the importance of defects and dopant atoms became obvious. In fact, if one incorporates the right defects and dopant atoms into semiconductor materials, one can tune their electrical properties such that optimal device characteristics are achieved. Unfortunately, counteractive defects are often also formed unintentionally during semiconductor processing, leading to unfavorable electronic properties. Considerable research efforts have, therefore, focused on understanding the nanoscale physics that governs the formation of point defects, the incorporation behavior of impurities, and their respective electronic properties.

  7. Assembly of primary cilia

    Pedersen, Lotte B; Veland, Iben R; Schrøder, Jacob M


    in primary cilia assembly or function have been associated with a panoply of disorders and diseases, including polycystic kidney disease, left-right asymmetry defects, hydrocephalus, and Bardet Biedl Syndrome. Here we provide an up-to-date review focused on the molecular mechanisms involved in the assembly...

  8. Defects in Human Nature



    By tracing the defects of society back to the defects of human nature, humanity's essence is proved to be inherent evil. Man's natural tendency to do evil remain harnessed through the controls and conventions imposed by civilization, however, when rules or civilization are weakened, man' s dark side is unleashed.

  9. Birth Defects (For Parents)

    ... this virus during pregnancy, her child may have low birth weight, intellectual disability (mental retardation) or learning disabilities, ... and central nervous system problems. A child with late congenital syphilis may have abnormalities of the ... Diagnosing Birth Defects Many birth defects are diagnosed even before ...

  10. Defects at oxide surfaces

    Thornton, Geoff


    This book presents the basics and characterization of defects at oxide surfaces. It provides a state-of-the-art review of the field, containing information to the various types of surface defects, describes analytical methods to study defects, their chemical activity and the catalytic reactivity of oxides. Numerical simulations of defective structures complete the picture developed. Defects on planar surfaces form the focus of much of the book, although the investigation of powder samples also form an important part. The experimental study of planar surfaces opens the possibility of applying the large armoury of techniques that have been developed over the last half-century to study surfaces in ultra-high vacuum. This enables the acquisition of atomic level data under well-controlled conditions, providing a stringent test of theoretical methods. The latter can then be more reliably applied to systems such as nanoparticles for which accurate methods of characterization of structure and electronic properties ha...

  11. Cosmic defects and cosmology

    Magueijo, J; Magueijo, Joao; Brandenberger, Robert


    We provide a pedagogical overview of defect models of structure formation. We first introduce the concept of topological defect, and describe how to classify them. We then show how defects might be produced in phase transitions in the Early Universe and approach non-pathological scaling solutions. A very heuristic account of structure formation with defects is then provided, following which we introduce the tool box required for high precision calculations of CMB and LSS power spectra in these theories. The decomposition into scalar vector and tensor modes is reviewed, and then we introduce the concept of unequal-time correlator. We use isotropy and causality to constrain the form of these correlators. We finally show how these correlators may be decomposed into eigenmodes, thereby reducing a defect problem to a series of ``inflation'' problems. We conclude with a short description of results in these theories and how they fare against observations. We finally describe yet another application of topological d...

  12. Primary immunodeficiency

    McCusker Christine


    Full Text Available Abstract Primary immunodeficiency disorder (PID refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies or of innate immunity (e.g., phagocyte and complement disorders. Although the clinical manifestations of PIDs are highly variable, most disorders involve at least an increased susceptibility to infection. Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity and, therefore, consultation with a clinical immunologist is essential. PIDs should be suspected in patients with: recurrent sinus or ear infections or pneumonias within a 1 year period; failure to thrive; poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. Patients with multiple autoimmune diseases should also be evaluated. Diagnostic testing often involves lymphocyte proliferation assays, flow cytometry, measurement of serum immunoglobulin (Ig levels, assessment of serum specific antibody titers in response to vaccine antigens, neutrophil function assays, stimulation assays for cytokine responses, and complement studies. The treatment of PIDs is complex and generally requires both supportive and definitive strategies. Ig replacement therapy is the mainstay of therapy for B-cell disorders, and is also an important supportive treatment for many patients with combined immunodeficiency disorders. The heterogeneous group of disorders involving the T-cell arm of the adaptive system, such as severe combined immunodeficiency (SCID, require immune reconstitution as soon as possible. The treatment of innate immunodeficiency disorders varies depending on the type of defect, but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and bone marrow transplantation. This article

  13. Diabetes mellitus and birth defects

    Correa, Adolfo; Gilboa, Suzanne M.; Besser, Lilah M.; Botto, Lorenzo D.; Moore, Cynthia A.; Hobbs, Charlotte A.; Cleves, Mario A.; Riehle-Colarusso, Tiffany J.; Waller, D. Kim; Reece, E. Albert


    OBJECTIVE The purpose of this study was to examine associations between diabetes mellitus and 39 birth defects. STUDY DESIGN This was a multicenter case-control study of mothers of infants who were born with (n = 13,030) and without (n = 4895) birth defects in the National Birth Defects Prevention Study (1997–2003). RESULTS Pregestational diabetes mellitus (PGDM) was associated significantly with noncardiac defects (isolated, 7/23 defects; multiples, 13/23 defects) and cardiac defects (isolated, 11/16 defects; multiples, 8/16 defects). Adjusted odds ratios for PGDM and all isolated and multiple defects were 3.17 (95% CI, 2.20–4.99) and 8.62 (95% CI, 5.27–14.10), respectively. Gestational diabetes mellitus (GDM) was associated with fewer noncardiac defects (isolated, 3/23 defects; multiples, 3/23 defects) and cardiac defects (isolated, 3/16 defects; multiples, 2/16 defects). Odds ratios between GDM and all isolated and multiple defects were 1.42 (95% CI, 1.17–1.73) and 1.50 (95% CI, 1.13–2.00), respectively. These associations were limited generally to offspring of women with prepregnancy body mass index ≥25 kg/m2. CONCLUSION PGDM was associated with a wide range of birth defects; GDM was associated with a limited group of birth defects. PMID:18674752

  14. Fundamentos del ácido fólico en la prevención primaria farmacológica de defectos congénitos Foundations of folic acid in the primary pharmacological prevention of congential defects

    Roberto Lardoeyt Ferrer


    Full Text Available El ácido fólico fue descubierto en 1945 por los laboratorios Lederle, y desde entonces existe una gran variedad de derivados de esta vitamina, que se agrupan bajo el nombre común de folatos. Es en la APS donde se promueve la salud de la mujer y de su futura descendencia a través de la consulta de riesgo preconcepcional. Una de las acciones promotoras de la salud más importante de la asistencia preconcepcional, es la prevención de los defectos congénitos en la descendencia a través de la suplementación periconcepcional con folatos. El déficit de ácido fólico puede deberse tanto a factores genéticos como ambientales. Con el objetivo de incrementar los conocimientos de los profesionales de la salud que laboran en la atención médica a la mujer en edad reproductiva, se realizó una revisión del tema, en la que se tratan los fundamentos científicos que demuestran la importancia del uso de esta vitamina en la prevención de problemas congénitos como los defectos del tubo neural (DTN, síndrome de Down y de otras anomalías asociadas al déficit de este compuesto vitamínico.Folic acid was discovered in 1945 by Lederle laboratories and since then, there is a great variety of derivates of this vitamin that are grouped under the name of folates. It is in PHC where the health of woman and of her future off-spring is promoted through the office of preconceptional risk. One of the most important health promoting actions of preconceptional assistance is the prevention of the congenital defects in the off-spring by the periconceptional supplementation with folates. The deficit of folic acid may be caused by genetical and environmental factors. In order to increase the knowledge of the health professionals giving medical attention to women at gestational age, a review of this topic was made and the scientific foundations showing the importance of the use of this vitamin in the prevention of congenital defects, such as the neural tube defects

  15. What Are Neural Tube Defects?

    ... NICHD Research Information Clinical Trials Resources and Publications Neural Tube Defects (NTDs): Condition Information Skip sharing on social media links Share this: Page Content What are neural tube defects? Neural (pronounced NOOR-uhl ) tube defects are ...

  16. What Are Congenital Heart Defects?

    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  17. Educational paper: Primary antibody deficiencies

    G.J.A. Driessen (Gertjan); M. van der Burg (Mirjam)


    textabstractPrimary antibody deficiencies (PADs) are the most common primary immunodeficiencies and are characterized by a defect in the production of normal amounts of antigen-specific antibodies. PADs represent a heterogeneous spectrum of conditions, ranging from often asymptomatic selective IgA a

  18. Decalcificated human dentin matrix in autogenous repair of skull defects


    @@In the management of traumatic skull defect, the classical treatment has usually been adopted, i.e.,primary debridement and secondary repair of bone defect, especially in cases of open lacerated skull fracture. 1 In general, the use of prosthetic material in repair is often not so satisfactory either in China or abroad. Decalcificated human dentin matrix (DHDM)has been used in autogenous repair of traumatic skull defect in primary operation and a good curative effect has been gained since the time from September 1996 to March 1998. Clinical results and CT scanning observation are reported in the following.

  19. Neural tube defects

    M.E. Marshall


    Full Text Available Neural tube defects refer to any defect in the morphogenesis of the neural tube, the most common types being spina bifida and anencephaly. Spina bifida has been recognised in skeletons found in north-eastern Morocco and estimated to have an age of almost 12 000 years. It was also known to the ancient Greek and Arabian physicians who thought that the bony defect was due to the tumour. The term spina bifida was first used by Professor Nicolai Tulp of Amsterdam in 1652. Many other terms have been used to describe this defect, but spina bifida remains the most useful general term, as it describes the separation of the vertebral elements in the midline.

  20. Defect Prevention Based on 5 Dimensions of Defect Origin

    Sakthi Kumaresh


    Full Text Available “Discovering the unexpected is more important than confirming the known [7]. In software development,the “unexpected” one relates to defects. These defects when unattended would cause failure to the productand risk to the users. The increasing dependency of society on software and the crucial consequences that afailure can cause requires the need to find out the defects at the origin itself. Based on the lessons learntfrom the earlier set of projects, a defect framework highlighting the 5 Dimensions (Ds of defect origin isproposed in this work. The defect framework is based on analyzing the defects that had emerged fromvarious stages of software development like Requirements, Design, Coding, Testing and Timeline (defectsdue to lack of time during development. This study is not limited to just identifying the origin of defects atvarious phases of software development but also finds out the reasons for such defects, and defectpreventive (DP measures are proposed for each type of defect. This work can help practitioners chooseeffective defect avoidance measures.In addition to arriving at defect framework, this work also proposes a defect injection metric based onseverity of the defect rather than just defect count, which gives the number of adjusted defects produced bya project at various phases. The defect injection metric value, once calculated, serves as a yardstick tomake a comparison in the improvements made in the software process development between similar set ofprojects

  1. Training Program for Defectologists Working with Deaf-blind Children with Sensory-integrative Dysfunction in Primary Health Care Programa de capacitación para defectólogos que asisten a niños sordo-ciegos con disfunción sensorio-integrativa en Atención Primaria de Salud

    Idalmis Luisa Martínez Serrano


    Full Text Available Background: defectologists´ training for the management of deaf-blind people is a topic being currently investigated by different authors. Objective: To evaluate the effectiveness of a training program for defectologists working with deaf-blind children with sensory-integrative dysfunction in primary health care. Methods: before and after intervention research including all defectologists in primary health care in the province of Cienfuegos from June 2006 to July 2008. With this research some aspects were determined: special defectologists´ attention received by children who are deaf-blind in the province and initial training and expertise level to rehabilitate deaf-blind children with sensory-integrative dysfunction. Defectologists´ capacities were measured through a diagnostic test that allowed the design and implementation of a training program and a reference material. The final evaluation was conducted through a rehabilitation exercise and interviews to defectologists in order to measure their satisfaction levels. Results: None of the children had received specialized attention. 87, 5% of defectologists received specialized training, but none of them reached the necessary proficiency level (B in the diagnostic test. After training, 84, 3% of them reached the appropriate proficiency level. Conclusions: The training program allows adequate preparation with an accurate scientific basis and a matching with our real needs.Fundamento: la preparación del defectólogo para la atención a personas sordo-ciegas, constituye un tema de actualidad investigado por diferentes autores. Objetivo: evaluar la efectividad de un programa de capacitación para defectólogos que asisten a niños sordo-ciegos con disfunción sensorio-integrativa en la Atención Primaria de Salud. Métodos: investigación de intervención con

  2. 微纤维蛋白1在病理性瘢痕中的表达及意义%The expression of fibrillin1 in pathologic scars and its significance

    聂芳菲; 王齐; 秦泽莲


    Objective To probe into the mechanism of fibrillinl in pathologic scar,by examining the expressions of fibriUinl and TGF-β1 as well as their correlations in the tissues of keloid,hypertrophic scar sad normal skin.Methods The tissues of keloid,hypertrophic scar and normal skin were tested.RT-PCR was used to assess the mRNA expression levels of the aimed genes.The distribution of fibrillin1 in scars and normal skin was examined by immunohistochemistry staining.Results The mRNA level of fibrillinl in keloid(0.802 ±0.116)was increased by 218.25%(P0.05)than that in nomml skin.The expression of TGF-β1in keioid and hypertrophic scar were more than that in normal skin.The expression of fibrillinl was rdated to that of TGF-β1 positively(r=0.820,P0.05).TGF-β1在瘢痕疙瘩较正常皮肤和增生性瘢痕分别增高200.27%和92.81%(均为P<0.01);FBNI和TGF-β1 mRNA在上述标本中的表达量呈正性相关(r=0.820,P<0.01).FBN1蛋白主要在人类皮肤组织的表皮、毛囊和汗腺的基底膜以及真皮层的血管内皮细胞、部分成纤维细胞和细胞外基质中表达阳性.在真皮层,FBN1蛋白在瘢痕疙瘩(0.117±0.042)表达量较正常皮肤(0.185±0.043)和增生性瘢痕(0.181±0.048)分别减少36.76%和35.36%(均为P<0.01).结论 FBN1在瘢痕疙瘩表达异常,它是瘢痕疙瘩相关基因(瘢痕相关基因),可能通过参与TGF-β1信号通路的调节影响病理性瘢痕的发生.

  3. Norwegian Pitched Roof Defects

    Lars Gullbrekken


    Full Text Available The building constructions investigated in this work are pitched wooden roofs with exterior vertical drainpipes and wooden load-bearing system. The aim of this research is to further investigate the building defects of pitched wooden roofs and obtain an overview of typical roof defects. The work involves an analysis of the building defect archive from the research institute SINTEF Building and Infrastructure. The findings from the SINTEF archive show that moisture is a dominant exposure factor, especially in roof constructions. In pitched wooden roofs, more than half of the defects are caused by deficiencies in design, materials, or workmanship, where these deficiencies allow moisture from precipitation or indoor moisture into the structure. Hence, it is important to increase the focus on robust and durable solutions to avoid defects both from exterior and interior moisture sources in pitched wooden roofs. Proper design of interior ventilation and vapour retarders seem to be the main ways to control entry from interior moisture sources into attic and roof spaces.

  4. Discrete torsion defects

    Brunner, Ilka; Plencner, Daniel


    Orbifolding two-dimensional quantum field theories by a symmetry group can involve a choice of discrete torsion. We apply the general formalism of `orbifolding defects' to study and elucidate discrete torsion for topological field theories. In the case of Landau-Ginzburg models only the bulk sector had been studied previously, and we re-derive all known results. We also introduce the notion of `projective matrix factorisations', show how they naturally describe boundary and defect sectors, and we further illustrate the efficiency of the defect-based approach by explicitly computing RR charges. Roughly half of our results are not restricted to Landau-Ginzburg models but hold more generally, for any topological field theory. In particular we prove that for a pivotal bicategory, any two objects of its orbifold completion that have the same base are orbifold equivalent. Equivalently, from any orbifold theory (including those based on nonabelian groups) the original unorbifolded theory can be be obtained by orbifo...

  5. Mask Blank Defect Detection

    Johnson, M A; Sommargren, G E


    Mask blanks are the substrates that hold the master patterns for integrated circuits. Integrated circuits are semiconductor devices, such as microprocessors (mPs), dynamic random access memory (DRAMs), and application specific integrated circuits (ASICs) that are central to the computer, communication, and electronics industries. These devices are fabricated using a set of master patterns that are sequentially imaged onto light-sensitive coated silicon wafers and processed to form thin layers of insulating and conductive materials on top of the wafer. These materials form electrical paths and transistors that control the flow of electricity through the device. For the past forty years the semiconductor industry has made phenomenal improvements in device functionality, compactness, speed, power, and cost. This progress is principally due to the exponential decrease in the minimum feature size of integrated circuits, which has been reduced by a factor of {radical}2 every three years. Since 1992 the Semiconductor Industry Association (SIA) has coordinated the efforts of producing a technology roadmap for semiconductors. In the latest document, ''The International Technology Roadmap for Semiconductors: 1999'', future technology nodes (minimum feature sizes) and targeted dates were specified and are summarized in Table 1. Lithography is the imaging technology for producing a de-magnified image of the mask on the wafer. A typical de-magnification factor is 4. Mask blank defects as small as one-eighth the equivalent minimum feature size are printable and may cause device failure. Defects might be the result of the surface preparation, such as polishing, or contamination due to handling or the environment. Table 2 shows the maximum tolerable defect sizes on the mask blank for each technology node. This downward trend puts a tremendous burden on mask fabrication, particularly in the area of defect detection and reduction. A new infrastructure for mask

  6. Assessing EUV mask defectivity

    Okoroanyanwu, Uzodinma; Tchikoulaeva, Anna; Ackmann, Paul; Wood, Obert; La Fontaine, Bruno; Bubke, Karsten; Holfeld, Christian; Peters, Jan Hendrik; Kini, Sumanth; Watson, Sterling; Lee, Isaac; Mu, Bo; Lim, Phillip; Raghunathan, Sudhar; Boye, Carol


    This paper assesses the readiness of EUV masks for pilot line production. The printability of well characterized reticle defects, with particular emphasis on those reticle defects that cause electrical errors on wafer test chips, is investigated. The reticles are equipped with test marks that are inspected in a die-to-die mode (using DUV inspection tool) and reviewed (using a SEM tool), and which also comprise electrically testable patterns. The reticles have three modules comprising features with 32 nm ground rules in 104 nm pitch, 22 nm ground rules with 80 nm pitch, and 16 nm ground rules with 56 nm pitch (on the wafer scale). In order to determine whether specific defects originate from the substrate, the multilayer film, the absorber stack, or from the patterning process, the reticles were inspected after each fabrication step. Following fabrication, the reticles were used to print wafers on a 0.25 NA full-field ASML EUV exposure tool. The printed wafers were inspected with state of the art bright-field and Deep UV inspection tools. It is observed that the printability of EUV mask defects down to a pitch of 56 nm shows a trend of increased printability as the pitch of the printed pattern gets smaller - a well established trend at larger pitches of 80 nm and 104 nm, respectively. The sensitivity of state-of-the-art reticle inspection tools is greatly improved over that of the previous generation of tools. There appears to be no apparent decline in the sensitivity of these state-of-the-art reticle inspection tools for higher density (smaller) patterns on the mask, even down to 56nm pitch (1x). Preliminary results indicate that a blank defect density of the order of 0.25 defects/cm2 can support very early learning on EUV pilot line production at the 16nm node.

  7. Congenital Abdominal Wall Defects

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels


    complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure......OBJECTIVE: To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. MATERIALS AND METHODS: Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh...

  8. Supersymmetric k-defects

    Koehn, Michael


    In supersymmetric theories, topological defects can have nontrivial behaviors determined purely by whether or not supersymmetry is restored in the defect core. A well-known example of this is that some supersymmetric cosmic strings are automatically superconducting, leading to important cosmological effects and constraints. We investigate the impact of nontrivial kinetic interactions, present in a number of particle physics models of interest in cosmology, on the relationship between supersymmetry and supercurrents on strings. We find that in some cases it is possible for superconductivity to be disrupted by the extra interactions.

  9. Quantum computing with defects.

    Weber, J R; Koehl, W F; Varley, J B; Janotti, A; Buckley, B B; Van de Walle, C G; Awschalom, D D


    Identifying and designing physical systems for use as qubits, the basic units of quantum information, are critical steps in the development of a quantum computer. Among the possibilities in the solid state, a defect in diamond known as the nitrogen-vacancy (NV(-1)) center stands out for its robustness--its quantum state can be initialized, manipulated, and measured with high fidelity at room temperature. Here we describe how to systematically identify other deep center defects with similar quantum-mechanical properties. We present a list of physical criteria that these centers and their hosts should meet and explain how these requirements can be used in conjunction with electronic structure theory to intelligently sort through candidate defect systems. To illustrate these points in detail, we compare electronic structure calculations of the NV(-1) center in diamond with those of several deep centers in 4H silicon carbide (SiC). We then discuss the proposed criteria for similar defects in other tetrahedrally coordinated semiconductors.

  10. Neural tube defects: recent advances, unsolved questions, and controversies.

    Copp, Andrew J; Stanier, Philip; Greene, Nicholas D E


    Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in the UK. Genetic predisposition accounts for most of the risk of neural tube defects, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but studies of mouse models of neural tube defects show that anencephaly, open spina bifida, and craniorachischisis result from failure of primary neurulation, whereas skin-covered spinal dysraphism results from defective secondary neurulation. Other malformations, such as encephalocele, are likely to be postneurulation disorders.

  11. Types of Congenital Heart Defects

    ... heart develops. Examples of Simple Congenital Heart Defects Holes in the Heart (Septal Defects) The septum is ... Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG CONTACT US National Institutes of Health ...

  12. Adults with Congenital Heart Defects

    ... Disease Venous Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Aug 29,2017 ... the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with ...

  13. Reconstructions of eyelid defects

    Nirmala Subramanian


    Full Text Available Eyelids are the protective mechanism of the eyes. The upper and lower eyelids have been formed for their specific functions by Nature. The eyelid defects are encountered in congenital anomalies, trauma, and postexcision for neoplasm. The reconstructions should be based on both functional and cosmetic aspects. The knowledge of the basic anatomy of the lids is a must. There are different techniques for reconstructing the upper eyelid, lower eyelid, and medial and lateral canthal areas. Many a times, the defects involve more than one area. For the reconstruction of the lid, the lining should be similar to the conjunctiva, a cover by skin and the middle layer to give firmness and support. It is important to understand the availability of various tissues for reconstruction. One layer should have the vascularity to support the other layer which can be a graft. A proper plan and execution of it is very important.

  14. Wetting on smooth micropatterned defects

    Debuisson, Damien; Dufour, Renaud; Senez, Vincent; Arscott, Steve


    We develop a model which predicts the contact angle hysteresis introduced by smooth micropatterned defects. The defects are modeled by a smooth function and the contact angle hysteresis is explained using a tangent line solution. When the liquid micro-meniscus touches both sides of the defect simultaneously, depinning of the contact line occurs. The defects are fabricated using a photoresist and experimental results confirm the model. An important point is that the model is scale-independent,...

  15. Congenital Heart Defects (For Parents)

    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  16. [Nephrolithiasis: metabolic defects and terapeutic implications].

    Tasca, Andrea; Ammendola, Ciro


    Over the past 10 years, major progress has been made in the knowledge of urinary lithogenesis, including the potential pathogenetic role of Randall's plaques and renal tubular crystal retention. Urine supersaturation is the driving force of this process and can be induced by some risk factors, including low urine volume, high urinary excretion of calcium oxalate and uric acid and low urinary excretion of citrate. Primary hypercalciuria can be due to intestinal overabsorption renal leak and bone reabsorption of calcium. Prophilaxis is mainly conducted with thiazides and low calcium diet which is indicated only in the intestinal form. Primary hyperoxaluria is treated with pyridoxine and may require in the severe forms simultaneous renal and liver transplantation. Enteric hyperoxaluria is secondary to fatty acids malabsorption and requires diet, oral calcium and cholestiramine. Hyperuricosuria is caused by diet endogenous overproduction, mainly due to enzymatic defects or high renal excretion of uric acid. Urine alkalinization with K or K and Mg citrate can prevent stone formation even in idiopathic uric acid nephrolithiasis, in which a defect of urine acidification is supposed to be the main abnormality, and in hypocitraturic patients. Cystinuria is a rare inherited defect with an intense clinical impact. It can be classified in three forms and urinary stone formation is the role. Increased solubility and conversion of cystine in a more soluble form are the main goals of the prophylaxis which includes K citrate and thiol agents administration. Tiopronin is preferred to D-penicillamine due to its lower side effects.

  17. Wetting on smooth micropatterned defects

    Debuisson, Damien; Senez, Vincent; Arscott, Steve


    We develop a model which predicts the contact angle hysteresis introduced by smooth micropatterned defects. The defects are modeled by a smooth function and the contact angle hysteresis is explained using a tangent line solution. When the liquid micro-meniscus touches both sides of the defect simultaneously, depinning of the contact line occurs. The defects are fabricated using a photoresist and experimental results confirm the model. An important point is that the model is scale-independent, i.e. the contact angle hysteresis is dependent on the aspect ratio of the function, not on its absolute size; this could have implications for natural surface defects.

  18. Primary acalvaria: a case report

    Rios, Livia Teresa Moreira, E-mail: [Universidade Federal do Maranhao (UFMA), Sao Luis, MA (Brazil). Hospital Universitario. Unidade de Diagnostico por Imagem; Martins, Marilia da Gloria [Universidade Federal do Maranhao (UFMA), Sao Luis, MA (Brazil). Hospital Universitario. Servico de Ginecologia e Obstetricia; Simoes, Vanda Maria Ferreira; Nunes, Marynea do Vale; Marques, Patricia Franco; Godoy, Silvia Helena Cavalcante de Souza [Universidade Federal do Maranhao (UFMA), Sao Luis, MA (Brazil). Hospital Universitario. Servico de Neonatologia


    Acalvaria is a rare congenital malformation of unknown pathogenesis characterized by the absence of the flat bones of the cranial vault, dura mater and associated muscles, while the central nervous system is usually preserved. The most accepted physiopathogenic theory suggests the presence of a post neurulation defect with normal placement the embryonic ectoderm. The present report describes neonatal imaging findings of primary acalvaria. (author)

  19. Defect Recognition in Thermosonic Imaging

    CHEN Dapeng; WU Naiming; ZHANG Zheng


    This work is aimed at developing an effective method for defect recognition in thermosonic imaging.The heat mechanism of thermosonic imaging is introduced,and the problem for defect recognition is discussed.For this purpose,defect existing in the inner wall of a metal pipeline specimen and defects embedded in a carbon fiber reinforced plastic (CFRP) laminate are tested.The experimental data are processed by pulse phase thermography (PPT) method to show the phase images at different frequencies,and the characteristic of phase angle vs frequency curve of thermal anomalies and sound area is analyzed.A binary image,which is based on the characteristic value of defects,is obtained by a new recognition algorithm to show the defects.Results demonstrate good defect recognition performance for thermosonic imaging,and the reliability of this technique can be improved by the method.

  20. Topological defect lasers

    Knitter, Sebastian; Xiong, Wen; Guy, Mikhael I; Solomon, Glenn S; Cao, Hui


    We demonstrate topological defect lasers in a GaAs membrane with embedded InAs quantum dots. By introducing a disclination to a square-lattice of elliptical air holes, we obtain spatially confined optical resonances with high quality factor. Such resonances support powerflow vortices, and lase upon optical excitation of quantum dots, embedded in the structure. The spatially inhomogeneous variation of the unit cell orientation adds another dimension to the control of a lasing mode, enabling the manipulation of its field pattern and energy flow landscape.

  1. Morbidity after flap reconstruction of hypopharyngeal defects.

    Clark, Jonathan R; Gilbert, Ralph; Irish, Jonathan; Brown, Dale; Neligan, Peter; Gullane, Patrick J


    Laryngopharyngeal reconstruction continues to challenge in terms of operative morbidity and optimal functional results. The primary aim of this study is to determine whether complications can be predicted on the basis of reconstruction in patients undergoing pharyngectomy for tumors involving the hypopharynx. In addition, we detail a reconstructive algorithm for management of partial and total laryngopharyngectomy defects. A retrospective review was performed of 153 patients undergoing flap reconstruction for 85 partial and 68 circumferential pharyngectomies at a single institution over a 10-year period. There were 118 males and 35 females, the median age was 62 years, and mean follow up was 3.1 years. Pharyngectomy was performed for recurrence after radiotherapy in 80 patients and as primary surgery in 73. Free flap reconstruction was used in 42%, with 30 jejunal, 15 radial forearm, 11 anterolateral thigh, five rectus abdominis, and three gastro-omental flaps. Gastric transposition and pectoralis major pedicle flap was used in 14% and 44% of patients, respectively. Morbidity was analyzed according to extent of defect, regional versus free flap, enteric versus fasciocutaneous free flap reconstruction, and the effect of laparotomy. The total operative morbidity and mortality rate was 71% and 3%, respectively. The most common complications were hypocalcemia in 45%, pharyngocutaneous fistula in 33%, and wound complications in 25%. The late complication and stricture rate was 26% and 15%, respectively. On univariate analysis, circumferential defects were associated with increased total (P=.046) and flap-related morbidity (P=.037), hypocalcemia (Pspeech was the method of voice restoration in 44% of patients. Oral diet was achieved in 93% of patients; however, 16% required gastrostomy tube feeds for either total or supplemental nutrition. The operative morbidity associated with pharyngeal reconstruction is substantial in terms of early and late complications. We were

  2. Defects in germinal center selection in SLE

    Megan eWoods


    Full Text Available Germinal centers (GCs are the primary site at which clonal expansion and affinity maturation of B cells occurs. B cells encounter antigen and receive T cell help in the GC light zone (LZ and then migrate to the dark zone where they proliferate and undergo somatic mutation before cycling back to the LZ for further rounds of selection. Tolerance to autoantigens is frequently lost de novo as GC B cells undergo class switching and somatic mutation. This loss of tolerance is regulated by a variety of mechanisms including cell death, failure to compete for T cell help and failure to differentiate into effector cells. Systemic Lupus Erythematosus (SLE is characterized by loss of tolerance to nucleic acid antigens. While defects in tolerance occur in the naïve repertoire of SLE patients, pathogenic autoantibodies also arise in the GC as a result of failure to exclude autoreactive B cells from the GC and by somatic mutation from non-autoreactive precursors. Several B cell defects contribute to the loss of GC tolerance in SLE, including polymorphisms of genes that regulate BCR signaling, excess TLR7 signaling, defects in FcRIIB expression or defects of B cell apoptosis. Extrinsic soluble factors such as Type1 IFN or an imbalance between the number of TFH cells and regulatory T cells in the GC can also alter B cell negative selection. Finally, defects in macrophage clearance of apoptotic debris within the GC result in BCR mediated internalization of nucleic acid containing material and stimulation of autoantibody production by endosomal TLR driven mechanisms.

  3. Dipole defects in beryl

    Holanda, B A; Cordeiro, R C; Blak, A R, E-mail:, E-mail:, E-mail:


    Dipole defects in gamma irradiated and thermally treated beryl (Be{sub 3}Al{sub 2}Si{sub 6}O{sub 18}) samples have been studied using the Thermally Stimulated Depolarization Currents (TSDC) technique. TSDC experiments were performed in pink (morganite), green (emerald), blue (aquamarine) and colourless (goshenite) natural beryl. TSDC spectra present dipole peaks at 190K, 220K, 280K and 310K that change after gamma irradiation and thermal treatments. In morganite samples, for thermal treatments between 700K and 1100K, the 280K peak increase in intensity and the band at 220K disappears. An increase of the 280K peak and a decrease of the 190K peak were observed in the TSDC spectra of morganite after a gamma irradiation of 25kGy performed after the thermal treatments. In the case of emerald samples, thermal treatments enhanced the 280K peak and gamma irradiation partially destroyed this band. The goshenite TSDC spectra present only one band at 280K that is not affected either by thermal treatments or by gamma irradiation. All the observed peaks are of dipolar origin because the intensity of the bands is linearly dependent on the polarization field, behaviour of dipole defects. The systematic study, by means of TSDC measurements, of ionizing irradiation effects and thermal treatments in these crystals makes possible a better understanding of the role played by the impurities in beryl crystals.

  4. Primary radiation defect production in polyethylene and cellulose.

    Polvi, Jussi; Luukkonen, Petri; Nordlund, Kai; Järvi, Tommi T; Kemper, Travis W; Sinnott, Susan B


    Irradiation effects in polyethylene and cellulose were examined using molecular dynamics simulations. The governing reactions in both materials were chain scissioning and generation of small hydrocarbon and peroxy radicals. Recombination of chain fragments and cross-linking between polymer chains were found to occur less frequently. Crystalline cellulose was found to be more resistant to radiation damage than crystalline polyethylene. Statistics on radical formation are presented and the dynamics of the formation of radiation damage discussed.

  5. ATRX dysfunction induces replication defects in primary mouse cells.

    David Clynes

    Full Text Available The chromatin remodeling protein ATRX, which targets tandem repetitive DNA, has been shown to be required for expression of the alpha globin genes, for proliferation of a variety of cellular progenitors, for chromosome congression and for the maintenance of telomeres. Mutations in ATRX have recently been identified in tumours which maintain their telomeres by a telomerase independent pathway involving homologous recombination thought to be triggered by DNA damage. It is as yet unknown whether there is a central underlying mechanism associated with ATRX dysfunction which can explain the numerous cellular phenomena observed. There is, however, growing evidence for its role in the replication of various repetitive DNA templates which are thought to have a propensity to form secondary structures. Using a mouse knockout model we demonstrate that ATRX plays a direct role in facilitating DNA replication. Ablation of ATRX alone, although leading to a DNA damage response at telomeres, is not sufficient to trigger the alternative lengthening of telomere pathway in mouse embryonic stem cells.

  6. ATRX dysfunction induces replication defects in primary mouse cells.

    Clynes, David; Jelinska, Clare; Xella, Barbara; Ayyub, Helena; Taylor, Stephen; Mitson, Matthew; Bachrati, Csanád Z; Higgs, Douglas R; Gibbons, Richard J


    The chromatin remodeling protein ATRX, which targets tandem repetitive DNA, has been shown to be required for expression of the alpha globin genes, for proliferation of a variety of cellular progenitors, for chromosome congression and for the maintenance of telomeres. Mutations in ATRX have recently been identified in tumours which maintain their telomeres by a telomerase independent pathway involving homologous recombination thought to be triggered by DNA damage. It is as yet unknown whether there is a central underlying mechanism associated with ATRX dysfunction which can explain the numerous cellular phenomena observed. There is, however, growing evidence for its role in the replication of various repetitive DNA templates which are thought to have a propensity to form secondary structures. Using a mouse knockout model we demonstrate that ATRX plays a direct role in facilitating DNA replication. Ablation of ATRX alone, although leading to a DNA damage response at telomeres, is not sufficient to trigger the alternative lengthening of telomere pathway in mouse embryonic stem cells.

  7. Defects in new protective aprons

    Glaze, S.; LeBlanc, A.D.; Bushong, S.C.


    Upon careful examination, several defects have been detected in new protective aprons. The nature of the defects is identified and described. Although the occurrence of such defects has not exceeded 5%, they are significant enough to warrant return of the lead apron to the supplier. It is recommended that the integrity of all new protective aprons be verified upon receipt as well as at yearly intervals.

  8. Stochastic annealing simulations of defect interactions among subcascades

    Heinisch, H.L. [Pacific Northwest National Lab., Richland, WA (United States); Singh, B.N.


    The effects of the subcascade structure of high energy cascades on the temperature dependencies of annihilation, clustering and free defect production are investigated. The subcascade structure is simulated by closely spaced groups of lower energy MD cascades. The simulation results illustrate the strong influence of the defect configuration existing in the primary damage state on subsequent intracascade evolution. Other significant factors affecting the evolution of the defect distribution are the large differences in mobility and stability of vacancy and interstitial defects and the rapid one-dimensional diffusion of small, glissile interstitial loops produced directly in cascades. Annealing simulations are also performed on high-energy, subcascade-producing cascades generated with the binary collision approximation and calibrated to MD results.

  9. Studies of defects and defect agglomerates by positron annihilation spectroscopy

    Eldrup, Morten Mostgaard; Singh, B.N.


    and with other experimental methods (in particular transmission electron microscopy) forms the basis for the use of PAS to quantitatively characterize defects and defect complexes, both visible and invisible is transmission electron microscopes: this is illustrated by some examples. Finally, the advantages...

  10. Background Defect Density Reduction Using Automated Defect Inspection And Analysis

    Weirauch, Steven C.


    Yield maintenance and improvement is a major area of concern in any integrated circuit manufacturing operation. A major aspect of this concern is controlling and reducing defect density. Obviously, large defect excursions must be immediately addressed in order to maintain yield levels. However, to enhance yields, the subtle defect mechanisms must be reduced or eliminated as well. In-line process control inspections are effective for detecting large variations in the defect density on a real time basis. Examples of in-line inspection strategies include after develop or after etch inspections. They are usually effective for detecting when a particular process segment has gone out of control. However, when a process is running normally, there exists a background defect density that is generally not resolved by in-line process control inspections. The inspection strategies that are frequently used to monitor the background defect density are offline inspections. Offline inspections are used to identify the magnitude and characteristics of the background defect density. These inspections sample larger areas of product wafers than the in-line inspections to allow identification of the defect generating mechanisms that normally occur in the process. They are used to construct a database over a period of time so that trends may be studied. This information enables engineering efforts to be focused on the mechanisms that have the greatest impact on device yield. Once trouble spots in the process are identified, the data base supplies the information needed to isolate and solve them. The key aspect to the entire program is to utilize a reliable data gathering mechanism coupled with a flexible information processing system. This paper describes one method of reducing the background defect density using automated wafer inspection and analysis. The tools used in this evaluation were the KLA 2020 Wafer Inspector, KLA Utility Terminal (KLAUT), and a new software package developed

  11. Eddy Current Signature Classification of Steam Generator Tube Defects Using A Learning Vector Quantization Neural Network

    Gabe V. Garcia


    A major cause of failure in nuclear steam generators is degradation of their tubes. Although seven primary defect categories exist, one of the principal causes of tube failure is intergranular attack/stress corrosion cracking (IGA/SCC). This type of defect usually begins on the secondary side surface of the tubes and propagates both inwards and laterally. In many cases this defect is found at or near the tube support plates.

  12. Growth Defects in Langasite Crystals Observed with White Beam Synchrotron Radiation Topography


    Langasite single crystal was grown by the Czochralski method and its perfection was assessed by white beam synchrotron radiation topography. It is found that the growth core and the growth striations are the primary growth defects and they show strong X-ray kinematical contrast in the topographs. Another typical defect in LGS crystal is dislocation. The formation mechanisms of these growth defects in LGS crystals were discussed.

  13. Defect Tolerance in Methylammonium Lead Triiodide Perovskite

    Steirer, K. Xerxes; Schulz, Philip; Teeter, Glenn; Stevanovic, Vladan; Yang, Mengjin; Zhu, Kai; Berry, Joseph J.


    Photovoltaic applications of perovskite semiconductor material systems have generated considerable interest in part because of predictions that primary defect energy levels reside outside the bandgap. We present experimental evidence that this enabling material property is present in the halide-lead perovskite, CH3NH3PbI3 (MAPbI3), consistent with theoretical predictions. By performing X-ray photoemission spectroscopy, we induce and track dynamic chemical and electronic transformations in the perovskite. These data show compositional changes that begin immediately with exposure to X-ray irradiation, whereas the predominant electronic structure of the thin film on compact TiO2 appears tolerant to the formation of compensating defect pairs of VI and VMA and for a large range of I/Pb ratios. Changing film composition is correlated with a shift of the valence-band maximum only as the halide-lead ratio drops below 2.5. This delay is attributed to the invariance of MAPbI3 electronic structure to distributed defects that can significantly transform the electronic density of states only when in high concentrations.

  14. Primary internal fixation combined with flap transfer to treat Gustilo-ⅢB open fractures of lower extremity with severe soft tissue defect%一期内固定联合皮瓣移植治疗下肢Gustilo ⅢB型开放性骨折并严重软组织缺损

    胡锐; 任义军; 严立; 韩琼; 赵志刚; 勘武生


    目的 探讨一期内固定联合皮瓣移植治疗下肢GustiloⅢB型开放性骨折并严重软组织缺损的效果. 方法 2008年1月至2013年1月,采用一期内固定联合皮瓣移植治疗下肢GustiloⅢB型开放性骨折并严重软组织缺损病例共15例.骨折部位足踝部2例,胫、腓骨下段9例,上段3例,股骨远端l例;皮瓣面积l0.0cm×8.0cm~28.0cm×16.0cm;骨缺损植骨6例,缺损1.0~4.0 cm,均取髂骨植骨. 结果 术后随访6 ~ 24个月,皮瓣全部成活,仅2例皮瓣远端小面积坏死,经换药等治疗自行愈合;创面渗液感染1例,经抗感染、引流治疗后二期愈合;13例骨折顺利愈合,延迟愈合2例,二期行植骨术后均愈合,愈合时间平均7.2个月,无1例发生骨髓炎;创面愈合时间12~ 36 d,平均18.1 d.采用下肢功能评价表评价下肢功能,优良率86.6%. 结论 一期内固定联合皮瓣移植治疗下肢GustiloⅢB型开放性骨折并严重软组织缺损,是安全有效的策略,且具有骨折固定可靠、创面覆盖满意、早期恢复功能锻炼、缩短治疗周期、减轻患者痛苦等优点.%Objective To investigate the clinical effect of primary internal fixation combined with flap transfer for Gustilo Ⅲ B open fracture of lower extremity with severe soft tissue defct.Methods From January,2008 to January,2013,15 patients with Gustilo Ⅲ B open fracture of lower extremity and severe soft tissue defect were treated with primary internal fixation combined with flap transfer.Among them,there were 2 cases of foot and ankle fracture,9 of lower-tibia and fibula,3 of upper-tibia and fibula and 1 of distal femur fracture.The areas of the flaps were 10 cm × 8 cm-28 cm × 16 cm.Three cases were treated by bone grafting because of bone defect.Results All patients were followed up for 6-24 months.All flaps were survived,and only small area of 2 cases with the distal necrosis were cured by changing the dressing; In 1 case,the wound was infection and healed

  15. Graphene defect formation by extreme ultraviolet generated photoelectrons

    Gao, An; Lee, Christopher James; Bijkerk, Frederik


    We have studied the effect of photoelectrons on defect formation in graphene during extreme ultraviolet (EUV) irradiation. Assuming the major role of these low energy electrons, we have mimicked the process by using low energy primary electrons. Graphene is irradiated by an electron beam with energy

  16. Graphene defect formation by extreme ultraviolet generated photoelectrons

    Gao, A.; Lee, C. J.; F. Bijkerk,


    We have studied the effect of photoelectrons on defect formation in graphene during extreme ultraviolet (EUV) irradiation. Assuming the major role of these low energy electrons, we have mimicked the process by using low energy primary electrons. Graphene is irradiated by an electron beam with energy

  17. Raman spectra investigation of the defects of chemical vapor deposited multilayer graphene and modified by oxygen plasma treatment

    Li, Zongyao; Xu, Yu; Cao, Bing; Qi, Lin; He, Shunyu; Wang, Chinhua; Zhang, Jicai; Wang, Jianfeng; Xu, Ke


    Graphene, a two dimensional material, can be modified its properties by defects engineering. Here, we present Raman spectra studies of the multilayer graphene (MLG) fabricated by low-pressure chemical vapor deposition over copper foil, and report that the defects of MLG can be controlled by adjusting methane concentration. Moreover, MLG can be changed from metallic to semiconductoring properties by using oxygen plasma treatment, and we investigate the defects evolution of the graphene after exposing to oxygen plasma by Raman spectra. Our results indicate that the amount of defects in graphene can be changed by regulating the methane concentration and oxygen plasma exposure times, but the primary type of defect in MLG is still boundary-like defect. It is valuable for understanding the physics of defects evolution through artificially generated defects, and such defect engineering will greatly open up the future application of the novel material.

  18. [Basics of primary immunodeficiencies].

    Hernández-Martínez, Claudia; Espinosa-Rosales, Francisco; Espinosa-Padilla, Sara Elva; Hernández-Martínez, Ana Rosa; Blancas-Galicia, Lizbeth


    Primary immunodeficiencies (PID) are a heterogeneous group of inherited disorders, the etiology are the defects in the development or function of the immune system. The principal PID manifestations are the infections in early age, malignancy and diseases of immune dysregulation as autoimmunity and allergy. PIDs are genetics disorders and most of them are inherited as autosomal recessive, also this group of diseases is more prevalent in males and in childhood. The antibody immunodeficiency is the PID more common in adults. The more frequent disorders are the infections in the respiratory tract, abscesses, candidiasis, diarrhea, BCGosis etc. Initial approach included a complete blood count and quantification of immunoglobulins. The delay in diagnosis could be explained due to a perception that the recurrent infections are normal process or think that they are exclusively of childhood. The early diagnosis of PID by primary care physicians is important to opportune treatment and better prognosis.

  19. Birth Defects Research and Tracking

    ... used data from the National Birth Defects Prevention Study (NBDPS) to examine maternal asthma medication use during pregnancy and the risk of certain birth defects. (Published October 22, 2014) World Down Syndrome Day Read one mother’s reflection on the birth ...

  20. Calculating charged defects using CRYSTAL

    Bailey, Christine L.; Liborio, Leandro; Mallia, Giuseppe; Tomić, Stanko; Harrison, Nicholas M.


    The methodology for the calculation of charged defects using the CRYSTAL program is discussed. Two example calculations are used to illustrate the methodology: He+ ions in a vacuum and two intrinsic charged defects, Cu vacancies and Ga substitution for Cu, in the chalcopyrite CuGaS2.

  1. Facts about Atrial Septal Defect

    ... Living With Heart Defects Data & Statistics Tracking & Research Articles & Key Findings Free Materials Multimedia and Tools Links to Other Websites Information For... Media Policy Makers Facts about Atrial Septal Defect Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ...

  2. Facts about Ventricular Septal Defect

    ... Living With Heart Defects Data & Statistics Tracking & Research Articles & Key Findings Free Materials Multimedia and Tools Links to Other Websites Information For... Media Policy Makers Facts about Ventricular Septal Defect Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ...

  3. Irradiation Defects in Silicon Crystal


    The application of irradiation in silicon crystal is introduced.The defects caused by irradiation are reviewed and some major ways of studying defects in irradiated silicon are summarized.Furthermore the problems in the investigation of irradiated silicon are discussed as well as its properties.

  4. Competition between microstructure and defect in multiaxial high cycle fatigue

    F. Morel


    Full Text Available This study aims at providing a better understanding of the effects of both microstructure and defect on the high cycle fatigue behavior of metallic alloys using finite element simulations of polycrystalline aggregates. It is well known that the microstructure strongly affects the average fatigue strength and when the cyclic stress level is close to the fatigue limit, it is often seen as the main source of the huge scatter generally observed in this fatigue regime. The presence of geometrical defects in a material can also strongly alter the fatigue behavior. Nonetheless, when the defect size is small enough, i.e. under a critical value, the fatigue strength is no more affected by the defect. The so-called Kitagawa effect can be interpreted as a competition between the crack initiation mechanisms governed either by the microstructure or by the defect. Surprisingly, only few studies have been done to date to explain the Kitagawa effect from the point of view of this competition, even though this effect has been extensively investigated in the literature. The primary focus of this paper is hence on the use of both FE simulations and explicit descriptions of the microstructure to get insight into how the competition between defect and microstructure operates in HCF. In order to account for the variability of the microstructure in the predictions of the macroscopic fatigue limits, several configurations of crystalline orientations, crystal aggregates and defects are studied. The results of each individual FE simulation are used to assess the response at the macroscopic scale thanks to a probabilistic fatigue criterion proposed by the authors in previous works. The ability of this criterion to predict the influence of defects on the average and the scatter of macroscopic fatigue limits is evaluated. In this paper, particular emphasis is also placed on the effect of different loading modes (pure tension, pure torsion and combined tension and torsion on

  5. Holographic Chern-Simons Defects

    Fujita, Mitsutoshi; Meyer, Rene; Sugimoto, Shigeki


    We study SU(N) Yang-Mills-Chern-Simons theory in the presence of defects that shift the Chern-Simons level from a holographic point of view by embedding the system in string theory. The model is a D3-D7 system in Type IIB string theory, whose gravity dual is given by the AdS soliton background with probe D7-branes attaching to the AdS boundary along the defects. We holographically renormalize the free energy of the defect system with sources, from which we obtain the correlation functions for certain operators naturally associated to these defects. We find interesting phase transitions when the separation of the defects as well as the temperature are varied. We also discuss some implications for the Fractional Quantum Hall Effect and for two-dimensional QCD.

  6. 2010 Defects in Semiconductors GRC

    Shengbai Zhang


    Continuing its tradition of excellence, this Gordon Conference will focus on research at the forefront of the field of defects in semiconductors. The conference will have a strong emphasis on the control of defects during growth and processing, as well as an emphasis on the development of novel defect detection methods and first-principles defect theories. Electronic, magnetic, and optical properties of bulk, thin film, and nanoscale semiconductors will be discussed in detail. In contrast to many conferences, which tend to focus on specific semiconductors, this conference will deal with point and extended defects in a broad range of electronic materials. This approach has proved to be extremely fruitful for advancing fundamental understanding in emerging materials such as wide-band-gap semiconductors, oxides, sp{sup 2} carbon based-materials, and photovoltaic/solar cell materials, and in understanding important defect phenomena such as doping bottleneck in nanostructures and the diffusion of defects and impurities. The program consists of about twenty invited talks and a number of contributed poster sessions. The emphasis should be on work which has yet to be published. The large amount of discussion time provides an ideal forum for dealing with topics that are new and/or controversial.

  7. Software Defect Detection with Rocus

    Yuan Jiang; Ming Li; Zhi-Hua Zhou


    Software defect detection aims to automatically identify defective software modules for efficient software test in order to improve the quality of a software system. Although many machine learning methods have been successfully applied to the task, most of them fail to consider two practical yet important issues in software defect detection. First, it is rather difficult to collect a large amount of labeled training data for learning a well-performing model; second, in a software system there are usually much fewer defective modules than defect-free modules, so learning would have to be conducted over an imbalanced data set. In this paper, we address these two practical issues simultaneously by proposing a novel semi-supervised learning approach named Rocus. This method exploits the abundant unlabeled examples to improve the detection accuracy, as well as employs under-sampling to tackle the class-imbalance problem in the learning process. Experimental results of real-world software defect detection tasks show that Rocgs is effective for software defect detection. Its performance is better than a semi-supervised learning method that ignores the class-imbalance nature of the task and a class-imbalance learning method that does not make effective use of unlabeled data.

  8. Primary fibromyalgia

    Jacobsen, S; Jensen, L T; Foldager, M


    Serum concentrations of procollagen type III aminoterminal peptide have previously been reported to be low in some patients with primary fibromyalgia and the aim of this study was to determine if such patients differ clinically from primary fibromyalgia patients with normal levels of procollagen...... type III aminoterminal peptide. Subjective symptoms, tender points and dynamic muscle strength in 45 women with primary fibromyalgia were related to serum concentrations of procollagen type III aminoterminal peptide. Patients with low serum concentrations of procollagen type III aminoterminal peptide...... concentrations of procollagen type III aminoterminal peptide of primary fibromyalgia patients are connected to the disease impact....

  9. Can Anal Sphincter Defects Be Identified by Palpation?

    Shek, Ka Lai; Atan, Ixora Kamisan; Dietz, Hans Peter

    The aim of this study was to correlate clinical findings of anal sphincter defects and function with a sonographic diagnosis of significant sphincter defects. This is an observational cross-sectional study on women seen 6 to 10 weeks after primary repair of obstetric anal sphincter injuries (OASIs). All patients underwent a standardized interview including the St Mark incontinence score, a digital rectal examination, and 3-/4-dimensional transperineal ultrasound imaging. Two hundred forty-five patients were seen after primary repair of OASIs. Mean age was 29 (17-43) years. They were assessed at a median of 58 (15-278) days postpartum. One hundred fifty-seven (64%) delivered normal vaginally, 72 (29%) delivered by vacuum, and 16 (7%) delivered by forceps. A comparison of external anal sphincter (EAS) and internal anal sphincter ultrasound volume data and palpation was possible in 220 and 212 cases, respectively. Sphincter defects at rest and on contraction were both detected clinically in 17 patients. Significant abnormalities of the EAS were diagnosed on tomographic ultrasound imaging in 99 cases (45%), and significant abnormalities of the internal anal sphincter were diagnosed in 113 cases (53%). Agreement between digital and sonographic findings of sphincter defect was poor (k = 0.03-0.08). Women with significant EAS defects on ultrasound were found to have a lower resistance to digital insertion (P = 0.018) and maximum anal squeeze (P = 0.009) on a 6-point scale. The difference was however small. Digital rectal examination does not seem to be sufficiently sensitive to diagnose residual sphincter defects after primary repair of OASIs. Imaging is required for the evaluation of sphincter anatomy after repair.

  10. Reconstruction of nasal alar defects in asian patients.

    Han, Doo Hee; Mangoba, Dennis Cristobal S; Lee, Doh Young; Jin, Hong Ryul


    To present the aesthetic and functional outcomes of nasal alar reconstruction in Asian patients and to propose a working surgical algorithm. Seventeen patients underwent nasal alar reconstruction at a university-based facial plastic surgery practice from March 1, 1998, through February 28, 2010. The male-female ratio was 10:7, with a median age of 59 years (range, 34-78 years), and the mean follow-up duration was 64 months. The defect was mostly caused by basal cell carcinoma resection (14 of 17 [82%]), followed by the resection of squamous cell carcinoma, trauma, and excision of a previous scar. The mean defect size was 1.71 cm (range, 1-4 cm). The full-thickness defects were noted for 8 patients, whereas 9 had partial-thickness defects. The choice of reconstruction method was primarily based on the size and depth of the surgical defect. Most of the defects 1 to 2 cm in diameter needed nasolabial flaps (10 of 17 [59%]), whereas full-thickness defects larger than 2 cm needed forehead flaps (3 of 17 [18%]) to reconstruct the external defect. Smaller defects less than 1 cm were reconstructed with composite grafts (2 of 17 [12%]), a bilobed flap (1 of 17 [6%]), or primary closure (1 of 17 [6%]). Seven of 8 full-thickness defects had the internal nasal lining reconstructed using a septal mucoperichondrial flap, and 1 case was reconstructed using a cutaneous turn-in flap. Reinforcement cartilage graft was used in 8 patients. No flap failure occurred except in 1 case, in which necrosis of the internal lining flap caused contraction of the external flap with resultant alar rim elevation. An elevation of the alar margin and alar groove blunting occurred in 3 cases. No functional problems emerged. Subjective surgical outcome on a 4-point satisfaction scale revealed that 5 patients (29%) were much satisfied, 10 patients (59%) were satisfied, 1 patient (6%) was fairly satisfied, and 1 patient (6%) was dissatisfied. The choice of reconstruction method of nasal alar defect in

  11. Five Facts about Congenital Heart Defects

    ... Button Past Emails CDC Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Congenital heart defects are the most common types of birth defects. ...

  12. Topological defects in epithelia govern cell death and extrusion

    Saw, Thuan Beng; Doostmohammadi, Amin; Nier, Vincent; Kocgozlu, Leyla; Thampi, Sumesh; Toyama, Yusuke; Marcq, Philippe; Lim, Chwee Teck; Yeomans, Julia M.; Ladoux, Benoit


    Epithelial tissues (epithelia) remove excess cells through extrusion, preventing the accumulation of unnecessary or pathological cells. The extrusion process can be triggered by apoptotic signalling, oncogenic transformation and overcrowding of cells. Despite the important linkage of cell extrusion to developmental, homeostatic and pathological processes such as cancer metastasis, its underlying mechanism and connections to the intrinsic mechanics of the epithelium are largely unexplored. We approach this problem by modelling the epithelium as an active nematic liquid crystal (that has a long range directional order), and comparing numerical simulations to strain rate and stress measurements within monolayers of MDCK (Madin Darby canine kidney) cells. Here we show that apoptotic cell extrusion is provoked by singularities in cell alignments in the form of comet-shaped topological defects. We find a universal correlation between extrusion sites and positions of nematic defects in the cell orientation field in different epithelium types. The results confirm the active nematic nature of epithelia, and demonstrate that defect-induced isotropic stresses are the primary precursors of mechanotransductive responses in cells, including YAP (Yes-associated protein) transcription factor activity, caspase-3-mediated cell death, and extrusions. Importantly, the defect-driven extrusion mechanism depends on intercellular junctions, because the weakening of cell-cell interactions in an α-catenin knockdown monolayer reduces the defect size and increases both the number of defects and extrusion rates, as is also predicted by our model. We further demonstrate the ability to control extrusion hotspots by geometrically inducing defects through microcontact printing of patterned monolayers. On the basis of these results, we propose a mechanism for apoptotic cell extrusion: spontaneously formed topological defects in epithelia govern cell fate. This will be important in predicting

  13. Ventricular Septal Defect (For Parents)

    ... Child What Kids Say About: Handling Stress Anxiety, Fears, and Phobias Community Service: A Family's Guide to ... septal defect (VSD) — sometimes referred to as a hole in the heart — is a type of congenital ...

  14. Defective Autophagy Initiates Malignant Transformation.

    Galluzzi, Lorenzo; Bravo-San Pedro, José Manuel; Kroemer, Guido


    In this issue of Molecular Cell, Park et al. (2016) elegantly demonstrate that a partial defect in autophagy supports malignant transformation as it favors the production of genotoxic reactive oxygen species by mitochondria.

  15. Screening Tests for Birth Defects

    ... 21 (Down syndrome) . Other trisomies include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) . A monosomy is ... which there is an extra chromosome. Trisomy 13 (Patau Syndrome): A genetic disorder that causes serious heart defects ...

  16. Atrial Septal Defect (For Teens)

    ... septal defect (pronounced: AY-tree-ul SEP-tul DEE-fekt), or ASD for short, is sometimes referred ... can be treated with cardiac catheterization (pronounced: CAR-dee-ack cath-uh-turr-ih-ZAY-shun), in ...

  17. Low quantum defect laser performance

    Bowman, Steven R.


    Low quantum defect lasers are possible using near-resonant optical pumping. This paper examines the laser material performance as the quantum defect of the laser is reduced. A steady-state model is developed, which incorporates the relevant physical processes in these materials and predicts extraction efficiency and waste heat generation. As the laser quantum defect is reduced below a few percent, the impact of fluorescence cooling must be included in the analysis. The special case of a net zero quantum defect laser is examined in detail. This condition, referred to as the radiation balance laser (RBL), is shown to provide two orders of magnitude lower heat generation at the cost of roughly 10% loss in extraction efficiency. Numerical examples are presented with the host materials Yb:YAG and Yb:Silica. The general conditions, which yield optimal laser efficiency, are derived and explored.

  18. Congenital heart defect - corrective surgery

    ... Hypoplastic left heart repair; Tetralogy of Fallot repair; Coarctation of the aorta repair; Atrial septal defect repair; ... done in the neonatal intensive care unit (NICU). Coarctation of the aorta repair: Coarctation of the aorta ...

  19. Painless causality in defect calculations

    Cheung, C; Cheung, Charlotte; Magueijo, Joao


    Topological defects must respect causality, a statement leading to restrictive constraints on the power spectrum of the total cosmological perturbations they induce. Causality constraints have for long been known to require the presence of an under-density in the surrounding matter compensating the defect network on large scales. This so-called compensation can never be neglected and significantly complicates calculations in defect scenarios, eg. computing cosmic microwave background fluctuations. A quick and dirty way to implement the compensation are the so-called compensation fudge factors. Here we derive the complete photon-baryon-CDM backreaction effects in defect scenarios. The fudge factor comes out as an algebraic identity and so we drop the negative qualifier ``fudge''. The compensation scale is computed and physically interpreted. Secondary backreaction effects exist, and neglecting them constitutes the well-defined approximation scheme within which one should consider compensation factor calculatio...

  20. Stable line defects in silicene

    Ghosh, Dibyajyoti; Parida, Prakash; Pati, Swapan K.


    Line defects in two-dimensional (2D) materials greatly modulate various properties of their pristine form. Using ab initio molecular dynamics (AIMD) simulations, we investigate the structural reconstructions of different kinds of grain boundaries in the silicene sheets. It is evident that depending upon the presence of silicon adatoms and edge shape of grain boundaries (i.e., armchair or zigzag), stable extended line defects (ELDs) can be introduced in a controlled way. Further studies show the stability of these line-defects in silicene, grown on Ag(111) surface at room-temperature. Importantly, unlike most of the 2D sheet materials such as graphene and hexagonal boron nitride, 5-5-8 line defects modify the nonmagnetic semimetallic pristine silicene sheet to spin-polarized metal. As ferromagnetically ordered magnetic moments remain strongly localized at the line defect, a one-dimensional spin channel gets created in silicene. Interestingly, these spin channels are quite stable because, unlike the edge of nanoribbons, structural reconstruction or contamination cannot destroy the ordering of magnetic moments here. Zigzag silicene nanoribbons with a 5-5-8 line defect also exhibit various interesting electronic and magnetic properties depending upon their width as well as the nature of the magnetic coupling between edge and defect spin states. Upon incorporation of other ELDs, such as 4-4-4 and 4-8 defects, 2D sheets and nanoribbons of silicene show a nonmagnetic metallic or semiconducting ground state. Highlighting the controlled formation of ELDs and consequent emergence of technologically important properties in silicene, we propose new routes to realize silicene-based nanoelectronic and spintronic devices.

  1. Topological defects from the multiverse

    Zhang, Jun [Institute of Cosmology, Department of Physics and Astronomy, Tufts University, Medford, MA 02155 (United States); Blanco-Pillado, Jose J. [Department of Theoretical Physics, University of the Basque Country UPV/EHU, 48080 Bilbao (Spain); IKERBASQUE, Basque Foundation for Science, 48013, Bilbao (Spain); Garriga, Jaume [Departament de Fisica Fonamental i Institut de Ciencies del Cosmos, Universitat de Barcelona, Marti i Franques, 1, 08028, Barcelona (Spain); Vilenkin, Alexander [Institute of Cosmology, Department of Physics and Astronomy, Tufts University, Medford, MA 02155 (United States)


    Many theories of the early universe predict the existence of a multiverse where bubbles continuously nucleate giving rise to observers in their interior. In this paper, we point out that topological defects of several dimensionalities will also be produced in de Sitter like regions of the multiverse. In particular, defects could be spontaneously nucleated in our parent vacuum. We study the evolution of these defects as they collide with and propagate inside of our bubble. We estimate the present distribution of defects in the observable part of the universe. The expected number of such nearby defects turns out to be quite small, even for the highest nucleation rate. We also study collisions of strings and domain walls with our bubble in our past light cone. We obtain simulated full-sky maps of the loci of such collisions, and find their angular size distribution. Similarly to what happens in the case of bubble collisions, the prospect of detecting any collisions of our bubble with ambient defects is greatly enhanced in the case where the cosmological constant of our parent vacuum is much higher than the vacuum energy density during inflation in our bubble.

  2. Topological defects from the multiverse

    Zhang, Jun; Blanco-Pillado, Jose J.; Garriga, Jaume; Vilenkin, Alexander


    Many theories of the early universe predict the existence of a multiverse where bubbles continuously nucleate giving rise to observers in their interior. In this paper, we point out that topological defects of several dimensionalities will also be produced in de Sitter like regions of the multiverse. In particular, defects could be spontaneously nucleated in our parent vacuum. We study the evolution of these defects as they collide with and propagate inside of our bubble. We estimate the present distribution of defects in the observable part of the universe. The expected number of such nearby defects turns out to be quite small, even for the highest nucleation rate. We also study collisions of strings and domain walls with our bubble in our past light cone. We obtain simulated full-sky maps of the loci of such collisions, and find their angular size distribution. Similarly to what happens in the case of bubble collisions, the prospect of detecting any collisions of our bubble with ambient defects is greatly enhanced in the case where the cosmological constant of our parent vacuum is much higher than the vacuum energy density during inflation in our bubble.

  3. Topological Defects from the Multiverse

    Zhang, Jun; Garriga, Jaume; Vilenkin, Alexander


    Many theories of the early universe predict the existence of a multiverse where bubbles continuously nucleate giving rise to observers in their interior. In this paper, we point out that topological defects of several dimensionalities will also be produced in de Sitter like regions of the multiverse. In particular, defects could be spontaneously nucleated in our parent vacuum. We study the evolution of these defects as they collide with and propagate inside of our bubble. We estimate the present distribution of defects in the observable part of the universe. The expected number of such nearby defects turns out to be quite small, even for the highest nucleation rate. We also study collisions of strings and domain walls with our bubble in our past light cone. We obtain simulated full-sky maps of the loci of such collisions, and find their angular size distribution. Similarly to what happens in the case of bubble collisions, the prospect of detecting any collisions of our bubble with ambient defects is greatly e...

  4. Intrauterine Infections and Birth Defects



    Intrauterine infection is an important cause of some birth defects worldwide. The most common pathogens include rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. General information about these pathogens in epidemiology, consequence of birth defects, and the possible mechanisms in the progress of birth defects, and the interventions to prevent or treat these pathogens' infections are described. The infections caused by rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. are common, yet they are proved to be fatal during the pregnant period, especially during the first trimester. These infections may cause sterility, abortion, stillbirth, low birth weight, and affect multiple organs that may induce loss of hearing and vision, even fetal deformity and the long-term effects. These pathogens' infections may influence the microenvironment of placenta, including levels of enzymes and cytokines, and affect chondriosome that may induce the progress of birth defect. Early diagnosis of infections during pregnancy should be strengthened. There are still many things to be settled, such as the molecular mechanisms of birth defects, the effective vaccines to certain pathogens. Birth defect researches in terms of etiology and the development of applicable and sensitive pathogen detection technology and methods are imperative.

  5. Electrical fingerprint of pipeline defects

    Mica, Isabella [STMicroelectronics Srl, via C.Olivetti 2, 20041 Agrate Brianza (Italy)]. E-mail:; Polignano, Maria Luisa [STMicroelectronics Srl, via C.Olivetti 2, 20041 Agrate Brianza (Italy); Marco, Cinzia De [STMicroelectronics Srl, via C.Olivetti 2, 20041 Agrate Brianza (Italy)


    Pipeline defects are dislocations that connect the source region of the transistor with the drain region. They were widely reported to occur in CMOS, BiCMOS devices and recently in SOI technologies. They can reduce device yield either by affecting the devices functionality or by increasing the current consumption under stand-by conditions. In this work the electrical fingerprint of these dislocations is studied, its purpose is to enable us to identify these defects as the ones responsible for device failure. It is shown that the pipeline defects are responsible for a leakage current from source to drain in the transistors. This leakage has a resistive characteristic and it is lightly modulated by the body bias. It is not sensitive to temperature; vice versa the off-current of a good transistor exhibits the well-known exponential dependence on 1/T. The emission spectrum of these defects was studied and compared with the spectrum of a good transistor. The paper aims to show that the spectrum of a defective transistor is quite peculiar; it shows well defined peaks, whereas the spectrum of a good transistor under saturation conditions is characterized by a broad spectral light emission distribution. Finally the deep-level transient spectroscopy (DLTS) is tried on defective diodes.

  6. Defects formation and wave emitting from defects in excitable media

    Ma, Jun; Xu, Ying; Tang, Jun; Wang, Chunni


    Abnormal electrical activities in neuronal system could be associated with some neuronal diseases. Indeed, external forcing can cause breakdown even collapse in nervous system under appropriate condition. The excitable media sometimes could be described by neuronal network with different topologies. The collective behaviors of neurons can show complex spatiotemporal dynamical properties and spatial distribution for electrical activities due to self-organization even from the regulating from central nervous system. Defects in the nervous system can emit continuous waves or pulses, and pacemaker-like source is generated to perturb the normal signal propagation in nervous system. How these defects are developed? In this paper, a network of neurons is designed in two-dimensional square array with nearest-neighbor connection type; the formation mechanism of defects is investigated by detecting the wave propagation induced by external forcing. It is found that defects could be induced under external periodical forcing under the boundary, and then the wave emitted from the defects can keep balance with the waves excited from external forcing.

  7. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Alok Sachan


    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  8. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Suresh V


    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  9. Primary productivity

    Verlecar, X.N.; Parulekar, A.H.

    Photosynthetic production in the oceans in relation to light, nutrients and mixing processes is discussed. Primary productivity in the estuarine region is reported to be high in comparison to coastal and oceanic waters. Upwelling phenomenon...


    Maria Papezova


    Full Text Available INTRODUCTION:The most common method of conventional dental diagnosisinvolves X-rays, such as Radio Tomography (RT or Computer Tomography (CT. Such methods are used for diagnosing pores in dental material that can lead to premature failure of dental material. Diagnosis by X-ray provides an objective analysis. However, repeated radiation from X-rays can cause biological damage to human tissues. From this point of view, there is a significant need to progress to quantitative non-invasive and non-destructive testing (NDT methods to measure dental material and improve treatment options. This article focuses on applying microwave technology to characterize teeth and teeth replacements. Knowledge of microwave propagation in biomaterial with no defects, using a defined microwave frequency range, and subsequently comparing the result with defective material could provide a means of dental diagnosis without the risk of radiation for the patient, i.e. without X-ray. OBJECTIVES: The primary objective of this study was to examine microwave technology in the field of dental medical diagnosis as a new NDT method. METHODS: The basic concept of applying microwave technology to characterize teeth in dental diagnosis was examined using a basic algorithm designed in the MATLAB programming language. Tests used dielectric properties of tooth and tooth decay and propagated electromagnetic (EM waves to show different characteristics of chosen materials.RESULTS: The analyses of frequency dependent reflection and transmission coefficients of the chosen material, specificallyteeth, atfrequency range 0 GHz to 30 GHz, computed differences between healthy and defective dental material.CONCLUSION: Thus, this could be used in providing a dental diagnosis without exposing patients to radiation, i.e. without X-ray. The next stage will involve creating a complete model of a jaw with teeth, and designing a sensor for crack detection for comparisons using this basic algorithm.

  11. Primary hyperparathyroidism

    Madkhali, Tarıq; Alhefdhi, Amal; Chen, Herbert; Elfenbein, Dawn


    Primary hyperparathyroidism is a common endocrine disorder caused by overactivation of parathyroid glands resulting in excessive release of parathyroid hormone. The resultant hypercalcemia leads to a myriad of symptoms. Primary hyperparathyroidism may increase a patient’s morbidity and even mortality if left untreated. During the last few decades, disease presentation has shifted from the classic presentation of severe bone and kidney manifestations to most patients now being diagnosed on rou...

  12. Clarifying the morphology of the ostium primum defect.

    Anderson, Robert H; Mohun, Timothy J; Brown, Nigel A


    The 'ostium primum' defect is still frequently considered to be the consequence of deficient atrial septation, although the key feature is a common atrioventricular junction. The bridging leaflets of the common atrioventricular valve, which are joined to each other, are depressed distal to the atrioventricular junction, and fused to the crest of the muscular ventricular septum, which is bowed in the concave direction towards the ventricular apex. As a result, shunting across the defect occurs between the atrial chambers. These observations suggest that the basic deficiency in the 'ostium primum' defect is best understood as a product of defective atrioventricular septation, rather than an atrial septal defect. We have now encountered four examples of 'ostium primum' defects in mouse embryos that support this view. These were identified from a large number of mouse embryo hearts collected from a normal, outbred mouse colony and analysed by episcopic microscopy as part of an ongoing study of normal mouse cardiac development. The abnormal hearts were identified from embryos collected at embryonic days 15.5, 16.5 and 18.5 (two cases). We have analysed the features of the abnormal hearts, and compared the findings with those obtained in the large number of normally developed embryos. Our data show that the key feature of normal atrioventricular septation is the ventral growth through the right pulmonary ridge of a protrusion from the dorsal pharyngeal mesenchyme, confirming previous findings. This protrusion, known as the vestibular spine, or the dorsal mesenchymal protrusion, reinforces the closure of the primary atrial foramen, and muscularises along with the mesenchymal cap of the primary atrial septum to form the ventro-caudal buttress of the oval foramen, identified by some as the 'canal septum'. Detailed analysis of the four abnormal hearts suggests that in each case there has been failure of growth of the vestibular spine, with the result that the common

  13. Neutrophil microbial killing mechanisms: Lessons learned from primary immunodeficiencies

    Gazendam, R.P.


    Humans and microbes have a balanced and longstanding relationship. Immunosuppresive therapies and primary immunodeficiencies (PIDs) may disturb this balance and result in infection. Patients with neutropenia or PIDs with neutrophil functional defects, including Chronic Granulomatous Disease (CGD), a

  14. Crohn's disease-Defect in innate defence

    Michael Gersemann; Jan Wehkamp; Klaus Fellermann; Eduard Friedrich Stange


    Crohn's disease may prinicipally involve the whole gastrointestinal tract. Most commonly, the inflammation occurs in the small intestine and/or in the colon with stable disease location over the years. The pathogenesis of both disease phenotypes is complex, the likely primary defect lies in the innate rather than adaptive immunity, particularly in the chemical antimicrobial barrier of the mucosa Crohn's ileitis is associated with a reduced expression of the Wnt signalling pathway transcription factor T-cell factor 4 (TCF4) ,which is regulating Paneth cell differentiation. As a result, the alpha-defensins and principal Paneth cell products HD5 and HD6 are deficiently expressed in ileal disease, independent of current inflammation. In contrast, Crohn's colitis is typically associated with an impaired induction of the beta-defensins HBD2 and HBD3 caused by fewer gene copy numbers in the gene locus of the beta-defensins on chromosome 8. This ileal and colonic defect in innate defence mediated by a deficiency of the protective alpha- and betadefensins may enable the luminal microbes to invade the mucosa and trigger the inflammation. A better understanding of the exact molecular mechanisms behind ileal and colonic Crohn's disease may give rise to new therapeutic strategies based on a stimulation of the protective innate immune system.(C)2008 The WJG Press. All fights reserved.

  15. Treatment of Bone Defects in War Wounds: Retrospective Study

    Grubor, Predrag; Milicevic, Snjezana; Grubor, Milan; Meccariello, Luigi


    Introduction: Results of the treatment of open fractures primarily depend on the treatment of connected soft tissue injuries. Objective: The aim was to present the experience and methods gained during the treatment of diaphyseal bone defects as a consequence of gunshot fracture soft war trauma. Patients and Methods: The study consisted of 116 patients with the diaphyseal bone defect who were treated with the usage of primary and delayed autotransplantation of bones, transplants of the fibula and Ilizarov distraction osteogenesis. Results: The results of compensation of bone defect less than 4 cm and conducted by an early cortico-spongioplastics were as follows: good in 8 respondents (45%), satisfactory in 6 (34%) and poor in 4 respondents (21%). In cases of delayed cortico-spongioplastics, the above mentioned results were: good in 36 (41%) respondents, satisfactory in 24 (34%) and poor in 16 (25%) respondents. The results of compensation of bone defect greater than 4 cm with the usage of fibular transplant were as follows: good in 3 (38%) respondents, satisfactory in 3 (38%) and poor in 2 (24%), and with the usage of using the Ilizarov method, the results were as follows: good in 8 (57%) respondents, satisfactory in 3 (21.5%) and poor in 3(21.5%) respondents. Conclusion: The results showed that, in cases of compensation of bone defects less than 4 cm, the advantage is given to the primary spongioplastics over the delayed one. In cases of compensation of bone defects greater than 4 cm, the advantage is given to the Ilizarov distraction osteogenesis when compared to the fibular transplant. PMID:26543315

  16. The primary hyperoxalurias.

    Bobrowski, Amy E; Langman, Craig B


    The primary hyperoxalurias (PHs) are rare autosomal-recessive inborn errors of metabolism. In the most severe form (type 1), recurrent kidney stones and progressive nephrocalcinosis lead to the loss of kidney function, accompanied by systemic oxalosis, and often requires dialysis and/or transplantation. The variety of genetic mutations leading to PH increasingly are being defined, resulting in the ability to diagnose most patients accurately via minimally invasive means. During and after definitive diagnosis, supportive therapies with pyridoxine supplementation, urinary crystallization inhibitors, and hydration should be used, but have varying success. Emerging information about the renal tubular and intestinal transport of oxalate is leading to increasing evidence to support the use of oxalate-degrading bacteria (probiotics) and enzymes in the treatment of PH. Organ transplantation historically has offered the only potential cure for PH, and may include kidney-alone, combined liver-kidney, or pre-emptive liver-alone transplantation. Exciting new approaches in the treatment of type 1 PH, however, are under investigation. These include the restoration of defective enzymatic activity through the use of chemical chaperones, hepatocyte cell transplantation, or enzyme replacement by recombinant gene therapy. These novel approaches illustrate the goal for the ideal treatment of PH: correcting the genetic defect without exposing patients to the life-long risks associated with organ transplantation.

  17. Distribution of Topological Defects on Axisymmetric Surface

    SI Tie-Yan; DUAN Yi-Shi


    We propose a general method of determining the distribution of topological defects on axisymmetric surface,and study the distribution of topological defects on biconcave-discoid surface, which is the geometric configuration of red blood cell. There are three most possible cases of the distribution of the topological defects on the biconcave surface:four defects charged with 1/2, two defects charged with +1, or one defect charged with 2. For the four defect charged with 1/2, they sit at the vertices of a square imbedded in the equator of biconcave surface.

  18. Reduced TCA Flux in Diabetic Myotubes: Determined by Single Defects?

    Michael Gaster


    Full Text Available The diabetic phenotype is complex, requiring elucidation of key initiating defects. Diabetic myotubes express a primary reduced tricarboxylic acid (TCA cycle flux but at present it is unclear in which part of the TCA cycle the defect is localised. In order to localise the defect we studied ATP production in isolated mitochondria from substrates entering the TCA cycle at various points. ATP production was measured by luminescence with or without concomitant ATP utilisation by hexokinase in mitochondria isolated from myotubes established from eight lean and eight type 2 diabetic subjects. The ATP production of investigated substrate combinations was significantly reduced in mitochondria isolated from type 2 diabetic subjects compared to lean. However, when ATP synthesis rates at different substrate combinations were normalized to the corresponding individual pyruvate-malate rate, there was no significant difference between groups. These results show that the primary reduced TCA cycle flux in diabetic myotubes is not explained by defects in specific part of the TCA cycle but rather results from a general downregulation of the TCA cycle.

  19. Displacement cascades and defects annealing in tungsten, Part I: Defect database from molecular dynamics simulations

    Setyawan, Wahyu [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Nandipati, Giridhar [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Roche, Kenneth J. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Univ. of Washington, Seattle, WA (United States); Heinisch, Howard L. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Wirth, Brian D. [Univ. of Tennessee, Knoxville, TN (United States); Oak Ridge National Lab., Oak Ridge, TN (United States); Kurtz, Richard J. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States)


    Molecular dynamics simulations have been used to generate a comprehensive database of surviving defects due to displacement cascades in bulk tungsten. Twenty-one data points of primary knock-on atom (PKA) energies ranging from 100 eV (sub-threshold energy) to 100 keV (~780×Ed, where Ed = 128 eV is the average displacement threshold energy) have been completed at 300 K, 1025 K and 2050 K. Within this range of PKA energies, two regimes of power-law energy-dependence of the defect production are observed. A distinct power-law exponent characterizes the number of Frenkel pairs produced within each regime. The two regimes intersect at a transition energy which occurs at approximately 250×Ed. The transition energy also marks the onset of the formation of large self-interstitial atom (SIA) clusters (size 14 or more). The observed defect clustering behavior is asymmetric, with SIA clustering increasing with temperature, while the vacancy clustering decreases. This asymmetry increases with temperature such that at 2050 K (~0.5Tm) practically no large vacancy clusters are formed, meanwhile large SIA clusters appear in all simulations. The implication of such asymmetry on the long-term defect survival and damage accumulation is discussed. In addition, <100> {110} SIA loops are observed to form directly in the highest energy cascades, while vacancy <100> loops are observed to form at the lowest temperature and highest PKA energies, although the appearance of both the vacancy and SIA loops with Burgers vector of <100> type is relatively rare.

  20. Birth defects in India: Hidden truth, need for urgent attention

    Rinku Sharma


    Indian people are living in the midst of risk factors for birth defects, e.g., universality of marriage, high fertility, large number of unplanned pregnancies, poor coverage of antenatal care, poor maternal nutritional status, high consanguineous marriages rate, and high carrier rate for hemoglobinopathies. India being the second most populous country with a large number infant born annually with birth defects should focus its attention on strategies for control of birth defects. Many population based strategies such as iodization, double fortification of salt, flour fortification with multivitamins, folic acid supplementation, periconceptional care, carrier screening and prenatal screening are some of proven strategies for control of birth defects. Strategies such as iodization of salt in spite of being initiated for a long time in the past do have a very little impact on its consumption (only 50% were using iodized salt. Community genetic services for control of birth defects can be easily flourished and integrated with primary health care in India because of its well established infrastructure and personnel in the field of maternal and child health care. As there is wide variation for infant mortality rate (IMR in different states in India, so there is a need of deferential approach to implement community genetic services in states those had already achieved national goal of IMR. On the other hand, states those have not achieved the national goal on IMR priority should be given to management of other causes of infant mortality.

  1. Transient gene expression mediated by integrase-defective retroviral vectors.

    Yu, Seung Shin; Dan, Kazuyuki; Chono, Hideto; Chatani, Emi; Mineno, Junichi; Kato, Ikunoshin


    Nonintegrating retroviral vectors were produced from a Moloney murine leukemia virus (MoMLV)-based retroviral vector system by introducing a point mutation into the integrase (IN) gene of the packaging plasmid. The efficacy of IN-defective retroviral vectors was measured through the transient expression of ZsGreen or luciferase in human cell lines. The IN-defective retroviral vectors could transduce target cells efficiently, but their gene expression was transient and lower than that seen with the integrating vectors. IN-defective retroviral vector gene expression decreased to background levels in fewer than 10 days. Southern blot analysis of transduced K562 cells confirmed the loss of a detectable vector sequence by 15 days. The residual integration activity of the IN-defective vector was 1000- to 10,000-fold lower than that of the integrating vector. These results demonstrate that the IN-defective retroviral vectors can provide a useful tool for efficient transient gene expression targeting of primary hematopoietic stem cells and lymphoid cells.

  2. Atomistic stimulation of defective oxides

    Minervini, L


    defect processes. The predominant intrinsic disorder reaction and the mechanism by which excess oxygen is accommodated are established. Furthermore, the most favourable migration mechanism and pathway for oxygen ions is predicted. Chapters 7 and 8 investigate pyrochlore oxides. These materials are candidates for solid oxide fuel cell components and as actinide host phases. Such applications require a detailed understanding of the defect processes. The defect energies, displayed as contour maps, are able to account for structure stability and, given an appropriate partial charge potential model, to accurately determine the oxygen positional parameter. In particular, the dependence of the positional parameter on intrinsic disorder is predicted. It is demonstrated, by radiation damage experiments, that these results are able to predict the radiation performance of pyrochlore oxides. Atomistic simulation calculations based on energy minimization techniques and classical pair potentials are used to study several i...

  3. Defect CFTs and holographic multiverse

    Fiol, Bartomeu, E-mail: [Departament de Física Fonamental i Institut de Ciències del Cosmos, Universitat de Barcelona, Martí i Franquès 1, 08193 Barcelona (Spain)


    We investigate some aspects of a recent proposal for a holographic description of the multiverse. Specifically, we focus on the implications on the suggested duality of the fluctuations of a bubble separating two universes with different cosmological constants. We do so by considering a similar problem in a 2+1 CFT with a codimension one defect, obtained by an M5-brane probe embedding in AdS{sub 4} × S{sup 7}, and studying its spectrum of fluctuations. Our results suggest that the kind of behavior required by the spectrum of bubble fluctuations is not likely to take place in defect CFTs with an AdS dual, although it might be possible if the defect supports a non-unitary theory.

  4. Congenital heart defects and medical imaging.

    Gehin, Connie; Ragsdale, Lisa


    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  5. Alarming Rise In Birth Defects


    A rapid rise in birth defects has prompted China to look for causes and solutionsEvery 60 seconds two children are born in China with a handicap.It’s an alarming fact,but one that young adults across the country who hope to have children face every day. At a conference on the prevention of birth defects in Chengdu of Sichuan Province in September,Vice Minister of the National Population and Family Planning Commission Jiang Fan revealed this inconvenient truth, supported by shocking statistics.

  6. Atrial – Ventricular Septal Defect

    T Panagiotopoulos


    Full Text Available Atrial and ventricular septal defect constitute the most common congenital heart disease.Aim: Τhe aim of the present retrospective study was to record data and factors that affect atrial and ventricular septal defect.Method and material: The sample study included patients of both sexes who were hospitalized with diagnosis atrial and ventricular septal defect in a Cardiac Surgery hospital of Athens. A specially constructed printed form was used for data collection, where were recorded the demographic and personal variables, the pathological, surgical, cardiology and obstetric history, the habits of adults, as well as the personal characteristics of mothers. Analysis of data was performed by descriptive statistical analysis.Results: The sample study consisted of 101 individuals with diagnosis atrial or ventricular Septal Defect, of which 40% were boys and 60% girls. The 70% of the sample study suffered from atrial Septal Defect and the 30% suffered from ventricular Septal Defect. Regarding age, 12% of the sample study was 0-1 years old, 35% was >1 years old, 8% was >12-18 years old and 45% over than 18 years old. Regarding educational status of the adult participants, 9% was of 0-6 years education, 22%>6 -12 years, 13%>12 years. 14% of the adult paticipants smoked, 4% consumed alcohol and 5% smoked in conjunction with alcohol. In terms of the obstetric history of the sample studied, 32% of the cases had normal birth, 4% had a twin birth and 1% had a triplet one. According to the variables related to mothers, the mean age of the mother was 30 years and 3 months, 10% were smokers at pregnancy and 3% used chemical substance and mainly hair color. Also, the results of the present study showed that individuals of 12-18 and >18 years old did not suffer from ventricular Septal Defect, whereas the infants 0-1 years old did not suffer from Atrial Septal Defect. The mean value of age at the admission in intensive care unit was 7 months (12% for the infants

  7. Facts about Upper and Lower Limb Reduction Defects

    ... Heart Defects Atrial Septal Defect Atrioventricular Septal Defect Coarctation of the Aorta D-Transposition of the Great ... Defects Fetal Alcohol Syndrome Disorders Gastroschisis Heart Defects Coarctation of the Aorta Hypoplastic left heart syndrome Tetralogy ...

  8. Warts and All: HPV in Primary Immunodeficiencies

    Leiding, Jennifer W.; Holland, Steven M.


    Infection with human papilloma virus (HPV) is almost universal and eventually asymptomatic, but pathologic infection with HPV is severe, recurrent, and recalcitrant to therapy. It is also an underappreciated manifestation of primary immunodeficiency. Mutations in EVER1, EVER2, GATA2, CXCR4, and DOCK8 are typically associated with extensive HPV infections, whereas several other primary immune defects have severe HPV much less frequently. We review immunodeficiencies with severe HPV infections and the mechanisms underlying them. PMID:23036745

  9. Genetics of primary ovarian insufficiency.

    Rossetti, R; Ferrari, I; Bonomi, M; Persani, L


    Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the age of 40 and account for one major cause of female infertility. POI relevance is continuously growing because of the increasing number of women desiring conception beyond 30 years of age, when POI prevalence is >1%. POI is highly heterogeneous and can present with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea, and it can be associated with other congenital or acquired abnormalities. In most cases POI remains classified as idiopathic. However, the age of menopause is an inheritable trait and POI has a strong genetic component. This is confirmed by the existence of several candidate genes, experimental and natural models. The variable expressivity of POI defect may indicate that, this disease may frequently be considered as a multifactorial or oligogenic defect. The most common genetic contributors to POI are the X chromosome-linked defects. Here, we review the principal X-linked and autosomal genes involved in syndromic and non-syndromic forms of POI with the expectation that this list will soon be upgraded, thus allowing the possibility to predict the risk of an early age at menopause in families with POI.

  10. Primary Myelofibrosis

    ... the blood cells. Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. ... if you have any of the following: Feeling pain or fullness below the ribs on the left side. Feeling full sooner than ...

  11. [Primary hyperaldosteronism

    Meiracker, A.H. van den; Deinum, J.


    Primary hyperaldosteronism (PHA), autonomic secretion of aldosterone by the adrenal gland, is rare. PHA usually results in therapy-resistant hypertension and is often but not always accompanied by hypokalaemia. Common causes of PHA are an aldosterone-producing adenoma, idiopathic aldosterone hyperse

  12. [Primary hyperaldosteronism

    Meiracker, A.H. van den; Deinum, J.


    Primary hyperaldosteronism (PHA), autonomic secretion of aldosterone by the adrenal gland, is rare. PHA usually results in therapy-resistant hypertension and is often but not always accompanied by hypokalaemia. Common causes of PHA are an aldosterone-producing adenoma, idiopathic aldosterone hyperse

  13. Primary Processing

    Mulder, W.J.; Harmsen, P.F.H.; Sanders, J.P.M.; Carre, P.; Kamm, B.; Schoenicke, P.


    Primary processing of oil-containing material involves pre-treatment processes, oil recovery processes and the extraction and valorisation of valuable compounds from waste streams. Pre-treatment processes, e.g. thermal, enzymatic, electrical and radio frequency, have an important effect on the oil r

  14. Hamiltonian monodromy as lattice defect

    Zhilinskii, B.


    The analogy between monodromy in dynamical (Hamiltonian) systems and defects in crystal lattices is used in order to formulate some general conjectures about possible types of qualitative features of quantum systems which can be interpreted as a manifestation of classical monodromy in quantum finite particle (molecular) problems.

  15. Ocular defects in cerebral palsy

    Katoch Sabita


    Full Text Available There is a high prevalence of ocular defects in children with developmental disabilities. This study evaluated visual disability in a group of 200 cerebral palsy (CP patients and found that 68% of the children had significant visual morbidity. These findings emphasize the need for an early ocular examination in patients with CP.

  16. Brane Inflation and Defect Formation

    Davis, A C; Van de Bruck, C


    Brane inflation and the production of topological defects at the end of the inflationary phase are discussed. After a description of the inflationary setup we discuss the properties of the cosmic strings produced at the end of inflation. Specific examples of brane inflation are described: $D-\\bar D$ inflation, $D3/D7$ inflation and modular inflation

  17. Nuclear Pasta: Topology and Defects

    da Silva Schneider, Andre; Horowitz, Charles; Berry, Don; Caplan, Matt; Briggs, Christian


    A layer of complex non-uniform phases of matter known as nuclear pasta is expected to exist at the base of the crust of neutron stars. Using large scale molecular dynamics we study the topology of some pasta shapes, the formation of defects and how these may affect properties of neutron star crusts.

  18. Genetic defects of iron transport.

    Bannerman, R M


    Five genetic traits in man and laboratory animals have major effects on iron transport. The heterogeneous condition, hemochromatosis, in some families appears to segregate as a Mendelian trait, and is associated with defective control of intestinal iron absorption. In the very rare human autosomal recessive trait, atransferrinemia, there is an almost total lack of transferrin and gross maldistribution of iron through the body. In mice, sex-linked anemia (an X-linked recessive trait) causes iron deficiency through defective iron absorption, at the "exit" step; a similar defect probably exists in placental iron transfer. In microcytic anemia of mice, an autosomal recessive trait, iron absorption is also impaired because of a defect of iron entry into cells, which is probably generalized. Belgrade rat anemia, less understood at present, also may involve a major disorder of iron metabolism. Study of these mutations has provided new knowledge of iron metabolism and its genetic control Their phenotypic interaction with nutritional factors, especially the form and quantity of iron in the diet, may provide new insights for the study of nutrition.

  19. Casting defects analysis by the Pareto method

    B. Borowiecki


    Full Text Available On the basis of receive results formed of diagram Pareto Lorenz. On the basis of receive graph it affirmed, that for 70% general number casting defects answered 3 defects (9 contribution – 100% defects. For 70% general number defects of influence it has three type of causes: sand holes, porosity and slaginclusions. Thedefects show that it is necessary to take up construction gatingsystem. The remaining 8 causes have been concerned only 25%, with general number of casting defects. Analysis of receive results permit to determine of direction of correct actions in order to eliminate or to limit the most defects.

  20. Hyperthyroidism (primary)

    Nygaard, Birte


    Hyperthyroidism is characterised by high levels of serum thyroxine and triiodothyronine, and low levels of thyroid-stimulating hormone. The main causes of hyperthyroidism are Graves' disease, toxic multinodular goitre, and toxic adenoma. About 20 times more women than men have hyperthyroidism....... METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of drug treatments for primary hyperthyroidism? What are the effects of surgical treatments for primary hyperthyroidism? What are the effects of treatments for subclinical...... hyperthyroidism? We searched: Medline, Embase, The Cochrane Library, and other important databases up to February 2010 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US...

  1. Independent Modulation of Omnidirectional Defect Modes in Single-Negative Materials Photonic Crystal with Multiple Defects

    WANG Qiong; YAN Chang-Chun; ZHANG Ling-Ling; CUI Yi-Ping


    @@ Single-negative materials based on photonic crystal with multiple defect layers are designed and the free modulation of defect modes is studied. The results show that the multi-defect structure can avoid the interference between the defect states. Therefore, the designed double defect modes in the zero effective-phase gap can be adjusted independently by changing the thickness of different defect layers. In addition, the two tunable defect modes have the omnidirectional characteristics. This multi-defect structure with above-mentioned two advantages has potential applications in modern optical devices such as tunable omnidirectional filters.

  2. Hyperthyroidism (primary)

    Nygaard, Birte


    Hyperthyroidism is characterised by high levels of serum thyroxine and triiodothyronine, and low levels of thyroid-stimulating hormone. Thyrotoxicosis is the clinical effect of high levels of thyroid hormones, whether or not the thyroid gland is the primary source.The main causes of hyperthyroidism are Graves' disease, toxic multinodular goitre, and toxic adenoma.About 20 times more women than men have hyperthyroidism.

  3. Hyperthyroidism (primary)

    Nygaard, Birte


    Hyperthyroidism is characterised by high levels of serum thyroxine and triiodothyronine, and low levels of thyroid-stimulating hormone (TSH). Thyrotoxicosis is the clinical effect of high levels of thyroid hormones, whether or not the thyroid gland is the primary source.The main causes of hyperthyroidism are Graves' disease, toxic multinodular goitre, and toxic adenoma.About 20 times more women than men have hyperthyroidism.

  4. Point defects in crystals (including grouped defects). Report No. 4548

    Seidman, D.N.


    The fundamental properties of point defects, vacancies and self-interstitial atoms, in pure fcc and bcc metals is reviewed. Point defects created by both thermally-activated and irradiation processes are considered. The roles played by vacancies and self-interstitial atoms in thermal equilibrium are discussed and the best values of the enthalpy of formation of these point defects, in a number of metals, are given. Methods for obtaining fundamental properties of vacancies, such as activation volumes, mobilities, and binding enthalpies are discussed. Selected best values of mobilities and binding enthalpies of vacancies, as deduced from recovery experiments on a number of different quenched metals are listed. The problem of the production of single self-interstitial atoms and their configuration(s) is discussed. The clustering of single self-interstitials into small clusters is also considered. The physical origin of the extremely high low-temperature mobility of self-interstitials in the so-called Stage I recovery regime is also discussed.

  5. Primary prevention of Down's syndrome


    Full Text Available Background: Antenatal screening has the capacity to detect more than 90% of Down's syndrome pregnancies leading to therapeutic abortion. Successes in recent years with such so-called 'secondary' prevention have not been matched with progress in primary prevention. Despite considerable research over many decades the principle cause of the disorder is unknown. Methods: This paper considers three potential primary prevention strategies, (1 avoiding reproduction at advanced maternal age, (2 pre-implantation genetic diagnosis for couples who are at high risk of Down's syndrome, and (3 folic acid supplementation. The principle aetiological hypotheses are also reviewed. Interpretation: A strategy of completing the family before a maternal age of 30 could more than halve the birth prevalence of this disorder. Women with a high a priori risk should have access to pre-implantation genetic diagnosis, which can lead to a reasonably high pregnancy rate with an extremely low risk of a Down's syndrome. The evidence suggesting an aetiological role for defective folate and methyl metabolism is not sufficient to justify an active preventative strategy of folic acid supplementation without performing a large clinical trial. Current supplementation policies designed to prevent neural tube defects may incidentally prevent Down's syndrome, provided a sufficiently high dose of folic acid is used. Further progress in primary prevention is hampered by limited aetiological knowledge and there is an urgent need to refocus research in that direction.

  6. Expert Network for Die Casing Defect Analysis

    Jiadi WANG; Yongfeng JIANG; Chen LU; Wenjiang DING


    Due to the competition and high cost associated with die casting defects, it is urgent to adopt a rapid and effective method for defect analysis. In this research, a novel expert network approach was proposed to avoid some disadvantages of rulebased expert system. The main objective of the system is to assist die casting engineer in identifying defect, determining the probable causes of defect and proposing remedies to eliminate the defect. 14 common die casting defects could be identified quickly by expert system on the basis of their characteristics. BP neural network in combination with expert system was applied to map the complex relationship between causes and defects, and further explained the cause determination process.Cause determination gives due consideration to practical process conditions. Finally, corrective measures were recommended to eliminate the defect and implemented in the sequence of difficulty.

  7. National Birth Defects Prevention Study (NBDPS)

    ... Submit Button Information For… Media Policy Makers National Birth Defects Prevention Study (NBDPS) Recommend on Facebook Tweet ... NBDPS is one of the largest studies on birth defects ever undertaken in the United States. This ...

  8. Cellular Defect May Be Linked to Parkinson's

    ... 160862.html Cellular Defect May Be Linked to Parkinson's: Study Abnormality might apply to all forms of ... that may be common to all forms of Parkinson's disease. The defect plays a major role in ...

  9. Automatic classification of blank substrate defects

    Boettiger, Tom; Buck, Peter; Paninjath, Sankaranarayanan; Pereira, Mark; Ronald, Rob; Rost, Dan; Samir, Bhamidipati


    Mask preparation stages are crucial in mask manufacturing, since this mask is to later act as a template for considerable number of dies on wafer. Defects on the initial blank substrate, and subsequent cleaned and coated substrates, can have a profound impact on the usability of the finished mask. This emphasizes the need for early and accurate identification of blank substrate defects and the risk they pose to the patterned reticle. While Automatic Defect Classification (ADC) is a well-developed technology for inspection and analysis of defects on patterned wafers and masks in the semiconductors industry, ADC for mask blanks is still in the early stages of adoption and development. Calibre ADC is a powerful analysis tool for fast, accurate, consistent and automatic classification of defects on mask blanks. Accurate, automated classification of mask blanks leads to better usability of blanks by enabling defect avoidance technologies during mask writing. Detailed information on blank defects can help to select appropriate job-decks to be written on the mask by defect avoidance tools [1][4][5]. Smart algorithms separate critical defects from the potentially large number of non-critical defects or false defects detected at various stages during mask blank preparation. Mechanisms used by Calibre ADC to identify and characterize defects include defect location and size, signal polarity (dark, bright) in both transmitted and reflected review images, distinguishing defect signals from background noise in defect images. The Calibre ADC engine then uses a decision tree to translate this information into a defect classification code. Using this automated process improves classification accuracy, repeatability and speed, while avoiding the subjectivity of human judgment compared to the alternative of manual defect classification by trained personnel [2]. This paper focuses on the results from the evaluation of Automatic Defect Classification (ADC) product at MP Mask

  10. Correlation functions on conical defects

    Smolkin, Michael


    We explore the new technique developed recently in \\cite{Rosenhaus:2014woa} and suggest a correspondence between the $N$-point correlation functions on spacetime with conical defects and the $(N+1)$-point correlation functions in regular Minkowski spacetime. This correspondence suggests a new systematic way to evaluate the correlation functions on spacetimes with conical defects. We check the correspondence for the expectation value of a scalar operator and of the energy momentum tensor in a conformal field theory and obtain the exact agreement with the earlier derivations for cosmic string spacetime. We then use this correspondence and do the computations for a generic scalar operator and a conserved vector current. For generic unitary field theory we compute the expectation value of the energy momentum tensor using the known spectral representation of the $2$-point correlators of stress-energy tensor in Minkowski spacetime.

  11. Cooperation and defection in ghetto

    Kulakowski, K


    We consider ghetto as a community of people ruled against their will by an external power. Members of the community feel that their laws are broken. However, attempts to leave ghetto makes their situation worse. We discuss the relation of the ghetto inhabitants to the ruling power in context of their needs, organized according to the Maslow hierarchy. Decisions how to satisfy successive needs are undertaken in cooperation with or defection the ruling power. This issue allows to construct the tree of decisions and to adopt the pruning technique from the game theory. Dynamics of decisions can be described within the formalism of fundamental equations. The result is that the strategy of defection is stabilized by the estimated payoff.

  12. Defects of mitochondrial DNA replication.

    Copeland, William C


    Mitochondrial DNA is replicated by DNA polymerase γ in concert with accessory proteins such as the mitochondrial DNA helicase, single-stranded DNA binding protein, topoisomerase, and initiating factors. Defects in mitochondrial DNA replication or nucleotide metabolism can cause mitochondrial genetic diseases due to mitochondrial DNA deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These genetic diseases include mitochondrial DNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mitochondrial DNA deletion disorders, such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. This review focuses on our current knowledge of genetic defects of mitochondrial DNA replication (POLG, POLG2, C10orf2, and MGME1) that cause instability of mitochondrial DNA and mitochondrial disease.

  13. Cooperation and Defection in Ghetto

    Kułakowski, Krzysztof

    We consider ghetto as a community of people ruled against their will by an external power. Members of the community feel that their laws are broken. However, attempts to leave ghetto makes their situation worse. We discuss the relation of the ghetto inhabitants to the ruling power in context of their needs, organized according to the Maslow hierarchy. Decisions how to satisfy successive needs are undertaken in cooperation with or defection the ruling power. This issue allows to construct the tree of decisions and to adopt the pruning technique from the game theory. Dynamics of decisions can be described within the formalism of fundamental equations. The result is that the strategy of defection is stabilized by the estimated payoff.

  14. Confining crack propagation in defective graphene.

    López-Polín, Guillermo; Gómez-Herrero, Julio; Gómez-Navarro, Cristina


    Crack propagation in graphene is essential to understand mechanical failure in 2D materials. We report a systematic study of crack propagation in graphene as a function of defect content. Nanoindentations and subsequent images of graphene membranes with controlled induced defects show that while tears in pristine graphene span microns length, crack propagation is strongly reduced in the presence of defects. Accordingly, graphene oxide exhibits minor crack propagation. Our work suggests controlled defect creation as an approach to avoid catastrophic failure in graphene.

  15. Diabetic angiopathy and angiogenic defects

    Xu Ling


    Full Text Available Abstract Diabetes is one of the most serious health problems in the world. A major complication of diabetes is blood vessel disease, termed angiopathy, which is characterized by abnormal angiogenesis. In this review, we focus on angiogenesis abnormalities in diabetic complications and discuss its benefits and drawbacks as a therapeutic target for diabetic vascular complications. Additionally, we discuss glucose metabolism defects that are associated with abnormal angiogenesis in atypical diabetic complications such as cancer.

  16. Algorithms for defects in nanostructures

    Chan, T.-L.; Tiago, Murilo L. [Center for Computational Materials, Institute for Computational Engineering and Sciences, University of Texas, Austin, Texas 78712 (United States); Chelikowsky, James R. [Center for Computational Materials, Institute for Computational Engineering and Sciences, University of Texas, Austin, Texas 78712 (United States); Departments of Physics and Chemical Engineering, University of Texas, Austin, Texas 78712 (United States)], E-mail:


    We illustrate recent progress in developing algorithms for solving the Kohn-Sham problem. Key ingredients of our algorithm include pseudopotentials implemented on a real space grid and the use of damped-Chebyshev polynomial filtered subspace iteration. This procedure allows one to predict electronic properties for many materials across the nano-regime, i.e., from atoms to nanocrystals of sufficient size to replicate bulk properties. We will illustrate this method for large silicon quantum dots doped with phosphorus defect.

  17. Packing defects into ordered structures

    Bechstein, R.; Kristoffersen, Henrik Høgh; Vilhelmsen, L.B.


    We have studied vicinal TiO2(110) surfaces by high-resolution scanning tunneling microscopy and density functional theory calculations. On TiO2 surfaces characterized by a high density of ⟨11̅ 1⟩ steps, scanning tunneling microscopy reveals a high density of oxygen-deficient strandlike adstructur...... because building material is available at step sites. The strands on TiO2(110) represent point defects that are densely packed into ordered adstructures....

  18. Electricity Surcharges: Defects and Suggestions


    @@ Since 1980s, the government has decided to levy certain surcharges attached to electricity tariff collected by power grid corporations as government revenue for specific social public welfare purposes. These surcharges presently include the Three Gorges construction fund, urban construction surcharge, rural power grid debt service fund, as well as the newly-added post supporting fund for water reservoirs immigrants and renewable energy surcharge, etc. Yet the legal defects on surcharge policy have brought about operational risks on power grid enterprises.

  19. Primary fibromyalgia

    Jacobsen, Søren; Jensen, L T; Foldager, Marie Viftrup


    type III aminoterminal peptide. Subjective symptoms, tender points and dynamic muscle strength in 45 women with primary fibromyalgia were related to serum concentrations of procollagen type III aminoterminal peptide. Patients with low serum concentrations of procollagen type III aminoterminal peptide...... had more symptoms, a higher frequency of tender points and lesser quality of sleep compared to patients with normal serum concentrations of procollagen type III aminoterminal peptide (P less than 0.05). They also had a lower dynamic muscle strength (P less than 0.0005). We conclude that the serum...

  20. Photonic crystals with topological defects

    Liew, Seng Fatt; Knitter, Sebastian; Xiong, Wen; Cao, Hui


    We introduce topological defects to a square lattice of elliptical cylinders. Despite the broken translational symmetry, the long-range positional order of the cylinders leads to a residual photonic band gap in the local density of optical states. However, the band-edge modes are strongly modified by the spatial variation of the ellipse orientation. The Γ -X band-edge mode splits into four regions of high intensity and the output flux becomes asymmetric due to the formation of crystalline domains with different orientation. The Γ -M band-edge mode has the energy flux circulating around the topological defect center, creating an optical vortex. By removing the elliptical cylinders at the center, we create localized defect states, which are dominated by either clockwise or counterclockwise circulating waves. The flow direction can be switched by changing the ellipse orientation. The deterministic aperiodic variation of the unit cell orientation adds another dimension to the control of light in photonic crystals, enabling the creation of a diversified field pattern and energy flow landscape.

  1. Diagnosis of primary ciliary dyskinesia

    Mary Anne Kowal Olm


    Full Text Available Primary ciliary dyskinesia (PCD is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

  2. Diagnosis of primary ciliary dyskinesia*

    Olm, Mary Anne Kowal; Caldini, Elia Garcia; Mauad, Thais


    Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures. PMID:26176524

  3. Signs and Symptoms of Congenital Heart Defects

    ... Twitter. What Are the Signs and Symptoms of Congenital Heart Defects? Many congenital heart defects cause few or no signs and symptoms. A ... lips, and fingernails) Fatigue (tiredness) Poor blood circulation Congenital heart defects don't cause chest pain or other painful ...

  4. Care and Treatment for Congenital Heart Defects

    ... Thromboembolism Aortic Aneurysm More Care and Treatment for Congenital Heart Defects Updated:Oct 26,2015 Not all people with ... supports you in your pursuit of heart health. Congenital Heart Defects • Home • About Congenital Heart Defects • The Impact of ...

  5. Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

    Schiff, Manuel; Ogier de Baulny, Hélène; Lombès, Anne


    Neonatal cardiomyopathies due to mitochondrial oxidative phosphorylation (OXPHOS) defects are extremely severe conditions which can be either isolated or included in a multi-organ disease, with or without metabolic crises, of which profound lactic acidosis is the prominent feature. Cardiomyopathy is more often hypertrophic than dilated. Antenatal manifestations such as fetal cardiomyopathy, arrhythmia and/or hydrops have been reported. Pathophysiological mechanisms are complex, going beyond ATP deficiency of the high-energy-consuming neonatal myocardium. Birth is a key metabolic period when the myocardium switches ATP production from anaerobic glycolysis to mitochondrial fatty acid oxidation and OXPHOS. Heart-specificity of the defect may be related to the specific localization of the defect, to the high myocardium dependency on OXPHOS, and/or to interaction between the primary genetic alteration and other factors such as modifier genes. Therapeutic options are limited but standardized diagnostic procedures are mandatory to confirm the OXPHOS defect and to identify its causal mutation, allowing genetic counseling and potential prenatal diagnosis.

  6. Immunobiology of Primary Antibody Deficiencies: Towards a new classification

    G.J.A. Driessen (Gertjan)


    textabstractPrimary antibody deficiencies (PADs) are the most common primary immunodeficiencies. The hallmark of PADs is a defect in the production of normal amounts of antigen specific antibodies. These antibodies or immunoglobulins are indispensible for the adaptive immune response against a wide

  7. Role of Primary Cilia in Odontogenesis.

    Hampl, M; Cela, P; Szabo-Rogers, H L; Bosakova, M Kunova; Dosedelova, H; Krejci, P; Buchtova, M


    Primary cilium is a solitary organelle that emanates from the surface of most postmitotic mammalian cells and serves as a sensory organelle, transmitting the mechanical and chemical cues to the cell. Primary cilia are key coordinators of various signaling pathways during development and maintenance of tissue homeostasis. The emerging evidence implicates primary cilia function in tooth development. Primary cilia are located in the dental epithelium and mesenchyme at early stages of tooth development and later during cell differentiation and production of hard tissues. The cilia are present when interactions between both the epithelium and mesenchyme are required for normal morphogenesis. As the primary cilium coordinates several signaling pathways essential for odontogenesis, ciliary defects can interrupt the latter process. Genetic or experimental alterations of cilia function lead to various developmental defects, including supernumerary or missing teeth, enamel and dentin hypoplasia, or teeth crowding. Moreover, dental phenotypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Weyers acrofacial dysostosis, cranioectodermal dysplasia, and oral-facial-digital syndrome, altogether demonstrating that primary cilia play a critical role in regulation of both the early odontogenesis and later differentiation of hard tissue-producing cells. Here, we summarize the current evidence for the localization of primary cilia in dental tissues and the impact of disrupted cilia signaling on tooth development in ciliopathies.

  8. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

    Waleed eAl-Herz


    Full Text Available We report the updated classification of primary immunodeficiencies compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition we have added a table of acquired defects that are phenocopies of primary immunodeficiencies. For each disorder, the key clinical and laboratory features are provided. This classification is the most up to date catalogue of all known primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.

  9. Primary hyperparathyroidism.

    Muñoz-Torres, Manuel; García-Martín, Antonia


    Primary hyperparathyroidism (PHPT) is a common endocrinological process, characterized by chronic elevation of serum concentrations of calcium and parathyroid hormone (PTH). Many years ago, the most frequent forms of clinical presentation were symptomatic renal or skeletal disease with moderate or severe hypercalcemia; however, currently, most patients have few symptoms and mild hypercalcemia. A new form of presentation called normocalcemic PHPT has also been described but clinical consequences are not well established. The biochemical profile of PHPT is characterized by hypercalcemia and high or inappropriately normal PTH concentrations. Parathyroidectomy is the only definitive cure. Medical treatment with the calcimimetic cinacalcet has been shown to normalize calcemia in a high percentage of cases. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  10. Selecting the best defect reduction methodology

    Hinckley, C.M. [Sandia National Labs., Albuquerque, NM (United States); Barkan, P. [Stanford Univ., CA (United States)


    Defect rates less than 10 parts per million, unimaginable a few years ago, have become the standard of world-class quality. To reduce defects, companies are aggressively implementing various quality methodologies, such as Statistical Quality Control Motorola`s Six Sigma, or Shingo`s poka-yok. Although each quality methodology reduces defects, selection has been based on an intuitive sense without understanding their relative effectiveness in each application. A missing link in developing superior defect reduction strategies has been a lack of a general defect model that clarifies the unique focus of each method. Toward the goal of efficient defect reduction, we have developed an event tree which addresses a broad spectrum of quality factors and two defect sources, namely, error and variation. The Quality Control Tree (QCT) predictions are more consistent with production experience than obtained by the other methodologies considered independently. The QCT demonstrates that world-class defect rates cannot be achieved through focusing on a single defect source or quality control factor, a common weakness of many methodologies. We have shown that the most efficient defect reduction strategy depend on the relative strengths and weaknesses of each organization. The QCT can help each organization identify the most promising defect reduction opportunities for achieving its goals.

  11. Infantile refsum disease with enamel defects: a case report.

    Tran, Dorothy; Greenhill, William; Wilson, Stephen


    The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.

  12. Atomic Approaches to Defect Thermochemistry


    ATOMIC APPROACHES TO DEFECT THERMOCHEMISTRY (AFOSR-89-0309) for period 1 April 1989 to 31 March 1992 Submitted by Professor James A. Van Vechten and...could be very much less. Thus, the GaAs lattice is indeed found to be stiff. Positron annihilation experiments (17) also teach us that GaAs be less for Si than for Ge. Experience with chemical trends of bond strengths, as well as the empirical literature, teach us that the H bond

  13. Developmental defects of the lungs

    DaCosta, H.; Pathak, A.; Noronha, O.; Dalal, S.; Shah, K.; Merchant, S.


    Poor lung development was first noted on scintigraphy using sup(99m)Tc-phytate in 32 children. They had all been referred for a hepatosplenic scan but the initial circulatory phase of the radiopharmaceutical was also recorded as a routine procedure. In 3 patients it revealed aplasia of an entire lung; bilateral pulmonary hypolplasia was observed in 14 of 16 patients with diaphragmatic herniae. Six patients with congenital heart enlargement showed a poorly developed ipsilateral lung; 5 of 6 patients with dextrocardia without an intracardiac defect had a larger left lung compared with the right lung; both pulmonary beds appeared equal in a patient with mesocardia.

  14. Electronic Defect States in Polyaniline.

    Ginder, John Matthew

    The electronic defect states of the conducting polymer polyaniline are studied by a variety of magnetic and optical techniques. The insulating emeraldine base form (EB) of polyaniline can be converted to the conducting emeraldine salt form (ES) by treatment with aqueous acids such as HCl. This "protonic acid doping" process occurs via the bonding of protons to the polymer chain, without altering the number of chain electrons. Magnetic susceptibility studies reveal that a roughly linear growth of the Pauli paramagnetic susceptibility, and an increase in the density of Curie-like spins, accompanies this conversion. Consequently, the protonation-induced defects are mainly spin-1/2 polarons; further, the linear growth of the Pauli susceptibility suggests that fully protonated regions--metallic islands --grow with increasing doping level. The electronic structure of the metallic phase is proposed to be that of a polaron lattice with electronic bandwidth ~0.4 eV and polaron decay length ~2 A. The defects which accomodate excess charge in EB were also studied by near-steady-state photoinduced absorption experiments. Upon photoexcitation into the 2 eV absorption band in EB, several photoinduced features evolved. Induced bleachings of the existing transitions at 2.0 and 3.7 eV were observed; induced absorptions were found at 0.9, 1.4, and 3.0 eV. The 2.0 eV bleaching is consistent with the production of molecular charge-transfer excitons, which may relax to a different ring conformation causing long-lived bleaching, or to two separate charges on a single chain. Indeed, the induced absorptions at 1.4 and 3.0 eV are, by analogy with similar protonation -induced absorptions and by their bimolecular recombination kinetics, assigned to photoexcited polarons. Light-induced electron spin resonance experiments confirm the presence of photogenerated spins upon pumping into the excitonic absorption. Near-steady-state photoconductivity measurements on EB reveal a very small induced

  15. Persistent renal cortical scintigram defects in children 2 years after urinary tract infection

    Ditchfield, Michael R.; Cook, David J.; Campo, John F. de [Department of Radiology, Royal Children' s Hospital, 3052, Parkville, Victoria (Australia); Grimwood, Keith [Department of General Paediatrics, Royal Children' s Hospital, 3052, Parkville, Victoria (Australia); Department of Paediatrics, University of Melbourne, Melbourne (Australia); Powell, Harley R.; Gulati, Sanjeev [Department of Nephrology, Royal Children' s Hospital, 3052, Parkville, Victoria (Australia); Sloane, Robert [Department of General Paediatrics, Royal Children' s Hospital, 3052, Parkville, Victoria (Australia)


    Background: Renal cortical scintigraphic studies challenge the role of vesicoureteric reflux in renal scar development, emphasizing instead the part played by acute pyelonephritis. Objective: To determine the prevalence of renal cortical defects in a child cohort 2 years after the child's first diagnosed urinary tract infection and to analyze the relationship of these defects with acute illness variables, primary vesicoureteric reflux and recurrent infections. Materials and methods: In a prospective cohort study, 193 children younger than 5 years with their first proven urinary tract infection underwent renal sonography, voiding cystourethrogram, and renal cortical scintigraphy within 15 days of diagnosis. Two years later, 150 of the 193 children, or 77.7%, had a further renal cortical scintigram, including 75, or 86.2%, of the 87 children who had acute scintigraphic defects. The relationship of cortical defects to age, gender, pre-treatment symptom duration, hospitalization, presence and grade of vesicoureteric reflux, and recurrent urinary tract infections was evaluated. Results: Overall, 20 of the 150 (13.3%; 95% confidence interval (CI) 8.3, 19.8) children had persistent defects 2 years after infection. This included 20 of 75 (26.7%; 95% CI 17.1, 38.1) with initially abnormal scintigrams. No new defects were detected. Although acute defects were more common in the young, those with persistent defects were older (median ages 16.4 vs. 6.8 months, P=0.004) than those with transient abnormalities. After adjustment for age, persistent defects were no longer associated with gender and were not predicted by acute illness variables, primary vesicoureteric reflux or recurrent infections. (orig.)

  16. Influence of neutrophil defects on Burkholderia cepacia complex pathogenesis

    Laura A. Porter


    Full Text Available The Burkholderia cepacia complex (Bcc is a group of Gram-negative bacteria that are ubiquitous in the environment and have emerged as opportunistic pathogens in immunocompromised patients. The primary patient populations infected with Bcc include individuals with cystic fibrosis (CF, as well as those with chronic granulomatous disease (CGD. While Bcc infection in CF is better characterized than in CGD, these two genetic diseases are not obviously similar and it is currently unknown if there is any commonality in host immune defects that is responsible for the susceptibility to Bcc. CF is caused by mutations in the CF transmembrane conductance regulator, resulting in manifestations in various organ systems, however the major cause of morbidity and mortality is currently due to bacterial respiratory infections. CGD, on the other hand, is a genetic disorder that is caused by defects in phagocyte NADPH oxidase. Because of the defect in CGD, phagocytes in these patients are unable to produce reactive oxygen species, which results in increased susceptibility to bacterial and fungal infections. Despite this significant defect in microbial clearance, the spectrum of pathogens frequently implicated in infections in CGD is relatively narrow and includes some bacterial species that are considered almost pathognomonic for this disorder. Very little is known about the cause of the specific susceptibility to Bcc over other potential pathogens more prevalent in the environment, and a better understanding of specific mechanisms required for bacterial virulence has become a high priority. This review will summarize both the current knowledge and future directions related to Bcc virulence in immunocompromised individuals with a focus on the roles of bacterial factors and neutrophil defects in pathogenesis.

  17. Inspection of directed self-assembly defects

    Ito, Chikashi; Durant, Stephane; Lange, Steve; Harukawa, Ryota; Miyagi, Takemasa; Nagaswami, Venkat; Rincon Delgadillo, Paulina; Gronheid, Roel; Nealey, Paul


    Directed Self-Assembly (DSA) is considered as a potential patterning solution for future generation devices. One of the most critical challenges for translating DSA into high volume manufacturing is to achieve low defect density in the DSA patterning process. The defect inspection capability is fundamental to defect reduction in any process, particularly the DSA process, as it provides engineers with information on the numbers and types of defects. While the challenges of other candidates of new generation lithography are well known (for example, smaller size, noise level due to LER etc.), the DSA process causes certain defects that are unique. These defects are nearly planar and in a material which produces very little defect scattering signal. These defects, termed as "dislocation" and "disclination" have unique shapes and have very little material contrast. While large clusters of these unique defects are easy to detect, single dislocation and disclination defects offer considerable challenge during inspection. In this investigation, etching the DSA pattern into a silicon (Si) substrate structure to enhance defect signal and Signal-to-Noise Ratio (SNR) is studied. We used a Rigorous Coupled-Wave Analysis (RCWA) method for solving Maxwell's equations to simulate the DSA unique defects and calculate inspection parameters. Controllable inspection parameters include various illumination and collection apertures, wavelength band, polarization, noise filtering, focus, pixel size, and signal processing. From the RCWA simulation, we compared SNR between "Post-SiN etch" and "Post-SiN+Si-substrate etch" steps. The study is also extended to investigate wafer-level data at post etch inspection. Both the simulations and inspection tool results showed dramatic signal and SNR improvements when the pattern was etched into the SiN+Si substrate allowing capture of DSA unique defect types.

  18. Endothelin receptor antagonists: effects on extracellular matrix synthesis in primary cultures of skin fibroblasts from systemic sclerosis patients

    B. Villaggio


    Full Text Available Endothelin-1 (ET-1 seems to enhance the pro-fibrotic protein synthesis by skin fibroblasts and its effects are mediated by endothelin-A and B (ETA and ETB receptors. This study aimed to investigate the effects of ETA and ETB receptor antagonists (ETARA-sitaxentan and ETA/BRA-bosentan on type I collagen (COL-1, fibronectin (FN and fibrillin-1 (FBL-1 synthesis in primary cultures of skin fibroblasts from systemic sclerosis patients. Primary cultures of fibroblasts were obtained from skin biopsies of 6 female systemic sclerosis patients and were treated with ET-1 (100 nM for 24 and 48 hrs with or without pre-treatment (1 hr with ETARA (2 μM or ETA/BRA (10 μM. Primary culture of human scleroderma skin fibroblasts not treated with ET-1 or ET receptor antagonists (ETARA and ETA/BRA were used as controls. COL-1, FN and FBL-1 synthesis was evaluated by immunocytochemistry and Western blot analysis. Immunocytochemistry and Western blot analysis showed that ET-1 significantly increased COL-1 and FN synthesis at 24 and 48 hrs and FBL-1 synthesis at 48 hrs vs untreated cells. ETARA significantly contrasted the ET-1-mediated increase in COL-1 and FN at 24 hrs as well as COL-1 and FBL-1 at 48 hrs, but not FN synthesis vs ET-1-treated fibroblasts. Conversely, ETA/BRA significantly antagonized the ET-1-mediated overproduction of COL-1 and FN both at 24 and 48 hrs and the FBL-1 synthesis at 48 hrs vs ET-1-treated cells. The single ETARA treatment seems to contrast significantly the increase in COL-1 synthesis, whereas the dual ETA/BRA treatment seems active in significantly antagonizing both COL-1 and FN overproduction induced by ET-1. In conclusion, ET-1 antagonism might have positive effects in contrasting the profibrotic activity of systemic sclerosis skin fibroblasts.

  19. Primary Aldosteronism and ARMC5 Variants

    Zilbermint, Mihail; Xekouki, Paraskevi; Faucz, Fabio R.; Berthon, Annabel; Gkourogianni, Alexandra; Schernthaner-Reiter, Marie Helene; Batsis, Maria; Sinaii, Ninet; Quezado, Martha M.; Merino, Maria; Hodes, Aaron; Abraham, Smita B.; Libé, Rossella; Assié, Guillaume; Espiard, Stéphanie; Drougat, Ludivine; Ragazzon, Bruno; Davis, Adam; Gebreab, Samson Y.; Neff, Ryan; Kebebew, Electron; Bertherat, Jérôme; Lodish, Maya B.


    Context: Primary aldosteronism is one of the leading causes of secondary hypertension, causing significant morbidity and mortality. A number of genetic defects have recently been identified in primary aldosteronism, whereas we identified mutations in ARMC5, a tumor-suppressor gene, in cortisol-producing primary macronodular adrenal hyperplasia. Objective: We investigated a cohort of 56 patients who were referred to the National Institutes of Health for evaluation of primary aldosteronism for ARMC5 defects. Methods: Patients underwent step-wise diagnosis, with measurement of serum aldosterone and plasma renin activity followed by imaging, saline suppression and/or oral salt loading tests, plus adrenal venous sampling. Cortisol secretion was also evaluated; unilateral or bilateral adrenalectomy was performed, if indicated. DNA, protein, and transfection studies in H295R cells were conducted by standard methods. Results: We identified 12 germline ARMC5 genetic alterations in 20 unrelated and two related individuals in our cohort (39.3%). ARMC5 sequence changes in 6 patients (10.7%) were predicted to be damaging by in silico analysis. All affected patients carrying a variant predicted to be damaging were African Americans (P = .0023). Conclusions: Germline ARMC5 variants may be associated with primary aldosteronism. Additional cohorts of patients with primary aldosteronism and metabolic syndrome, particularly African Americans, should be screened for ARMC5 sequence variants because these may underlie part of the known increased predisposition of African Americans to low renin hypertension. PMID:25822102

  20. Sinus Venosus Atrial Septal Defect Complicated by Eisenmenger Syndrome and the Role of Vasodilator Therapy

    Anuwatworn, Amornpol; Bendaly, Edgard; Prescott-Focht, Julia A.; Clark, Richard; Jonsson, Orvar


    Sinus venosus atrial septal defect is a rare congenital, interatrial communication defect at the junction of the right atrium and the vena cava. It accounts for 5–10% of cases of all atrial septal defects. Due to the rare prevalence and anatomical complexity, diagnosing sinus venous atrial septal defects poses clinical challenges which may delay diagnosis and treatment. Advanced cardiac imaging studies are useful tools to diagnose this clinical entity and to delineate the anatomy and any associated communications. Surgical correction of the anomaly is the primary treatment. We discuss a 43-year-old Hispanic female patient who presented with dyspnea and hypoxia following a laparoscopic myomectomy. She had been diagnosed with peripartum cardiomyopathy nine years ago at another hospital. Transesophageal echocardiography and computed tomographic angiography of the chest confirmed a diagnosis of sinus venosus atrial septal defect. She was also found to have pulmonary arterial hypertension and Eisenmenger syndrome. During a hemodynamic study, she responded to vasodilator and she was treated with Ambrisentan and Tadalafil. After six months, her symptoms improved and her pulmonary arterial hypertension decreased. We also observed progressive reversal of the right-to-left shunt. This case illustrates the potential benefit of vasodilator therapy in reversing Eisenmenger physiology, which may lead to surgical repair of the atrial septal defect as the primary treatment. PMID:27974976

  1. Sinus Venosus Atrial Septal Defect Complicated by Eisenmenger Syndrome and the Role of Vasodilator Therapy

    Amornpol Anuwatworn


    Full Text Available Sinus venosus atrial septal defect is a rare congenital, interatrial communication defect at the junction of the right atrium and the vena cava. It accounts for 5–10% of cases of all atrial septal defects. Due to the rare prevalence and anatomical complexity, diagnosing sinus venous atrial septal defects poses clinical challenges which may delay diagnosis and treatment. Advanced cardiac imaging studies are useful tools to diagnose this clinical entity and to delineate the anatomy and any associated communications. Surgical correction of the anomaly is the primary treatment. We discuss a 43-year-old Hispanic female patient who presented with dyspnea and hypoxia following a laparoscopic myomectomy. She had been diagnosed with peripartum cardiomyopathy nine years ago at another hospital. Transesophageal echocardiography and computed tomographic angiography of the chest confirmed a diagnosis of sinus venosus atrial septal defect. She was also found to have pulmonary arterial hypertension and Eisenmenger syndrome. During a hemodynamic study, she responded to vasodilator and she was treated with Ambrisentan and Tadalafil. After six months, her symptoms improved and her pulmonary arterial hypertension decreased. We also observed progressive reversal of the right-to-left shunt. This case illustrates the potential benefit of vasodilator therapy in reversing Eisenmenger physiology, which may lead to surgical repair of the atrial septal defect as the primary treatment.

  2. Cancer risk in children and adolescents with birth defects: a population-based cohort study.

    Lorenzo D Botto

    Full Text Available OBJECTIVE: Birth defects are an increasing health priority worldwide, and the subject of a major 2010 World Health Assembly Resolution. Excess cancer risk may be an added burden in this vulnerable group of children, but studies to date have provided inconsistent findings. This study assessed the risk for cancer in children and young adolescents with major birth defects. METHODS AND FINDINGS: This retrospective, statewide, population-based, cohort study was conducted in three US states (Utah, Arizona, Iowa. A cohort of 44,151 children and young adolescents (0 through 14 years of age with selected major, non-chromosomal birth defects or chromosomal anomalies was compared to a reference cohort of 147,940 children without birth defects randomly sampled from each state's births and frequency matched by year of birth. The primary outcome was rate of cancer prior to age 15 years, by type of cancer and type of birth defect. The incidence of cancer was increased 2.9-fold (95% CI, 2.3 to 3.7 in children with birth defects (123 cases of cancer compared to the reference cohort; the incidence rates were 33.8 and 11.7 per 100,000 person-years, respectively. However, the excess risk varied markedly by type of birth defect. Increased risks were seen in children with microcephaly, cleft palate, and selected eye, cardiac, and renal defects. Cancer risk was not increased with many common birth defects, including hypospadias, cleft lip with or without cleft palate, or hydrocephalus. CONCLUSION: Children with some structural, non-chromosomal birth defects, but not others, have a moderately increased risk for childhood cancer. Information on such selective risk can promote more effective clinical evaluation, counseling, and research.

  3. Surface defects and temperature on atomic friction

    Fajardo, O Y; Mazo, J J, E-mail: [Departamento de Fisica de la Materia Condensada and Instituto de Ciencia de Materiales de Aragon, CSIC-Universidad de Zaragoza, 50009 Zaragoza (Spain)


    We present a theoretical study of the effect of surface defects on atomic friction in the stick-slip dynamical regime of a minimalistic model. We focus on how the presence of defects and temperature change the average properties of the system. We have identified two main mechanisms which modify the mean friction force of the system when defects are considered. As expected, defects change the potential profile locally and thus affect the friction force. But the presence of defects also changes the probability distribution function of the tip slip length and thus the mean friction force. We corroborated both effects for different values of temperature, external load, dragging velocity and damping. We also show a comparison of the effects of surface defects and surface disorder on the dynamics of the system. (paper)


    S. Mythili


    Full Text Available In this paper, a novel idea is proposed for fabric defect detection. De- fects are detected in the fabric using steerable pyramid along with a defect detection algorithm. Various steerable pyramid of four size 256*256, 128*128, 64*64, 32*32 and with four orientation bands 00,450, 900, 1350 are used. Utilizing a Steerable pyramid proved ade- quate in the representation of fabric images in multi-scale and multi- orientations; thus allowing defect detection algorithms to run more effectively. Defect detection algorithm identifies and locates the im- perfection in the defective sample using the statistics mean and stan- dard deviation. This statistics represents the relative amount of inten- sity in the texture and is sufficient to measure defects in the current model .The obtained result are compared with the existing methods wavelet based system and with Gaussian and Laplacian pyramid.

  5. Primordial inhomogeneities from massive defects during inflation

    Firouzjahi, Hassan; Karami, Asieh; Rostami, Tahereh


    We consider the imprints of local massive defects, such as a black hole or a massive monopole, during inflation. The massive defect breaks the background homogeneity. We consider the limit that the physical Schwarzschild radius of the defect is much smaller than the inflationary Hubble radius so a perturbative analysis is allowed. The inhomogeneities induced in scalar and gravitational wave power spectrum are calculated. We obtain the amplitudes of dipole, quadrupole and octupole anisotropies in curvature perturbation power spectrum and identify the relative configuration of the defect to CMB sphere in which large observable dipole asymmetry can be generated. We observe a curious reflection symmetry in which the configuration where the defect is inside the CMB comoving sphere has the same inhomogeneous variance as its mirror configuration where the defect is outside the CMB sphere.

  6. Primordial inhomogeneities from massive defects during inflation

    Firouzjahi, Hassan; Rostami, Tahereh


    We consider the imprints of local massive defects, such as a black hole or a massive monopole, during inflation. The massive defect breaks the background homogeneity. We consider the limit that the physical Schwarzschild radius of the defect is much smaller than the inflationary Hubble radius so a perturbative analysis is allowed. The inhomogeneities induced in scalar and gravitational wave power spectrum are calculated. We obtain the amplitudes of dipole, quadrupole and octupole anisotropies in curvature perturbation power spectrum and identify the relative configuration of the defect to CMB sphere in which large observable dipole asymmetry can be generated. We observe a curious reflection symmetry in which the configuration where the defect is inside the CMB comoving sphere has the same inhomogeneous variance as its mirror configuration where the defect is outside the CMB sphere.

  7. Little String Origin of Surface Defects

    Haouzi, Nathan


    We derive the codimension-two defects of 4d $\\mathcal{N} = 4$ Super Yang-Mills (SYM) theory from the (2, 0) little string. The origin of the little string is type IIB theory compactified on an ADE singularity. The defects are D-branes wrapping the 2-cycles of the singularity. We use this construction to make contact with the description of SYM defects due to Gukov and Witten [arXiv:hep-th/0612073]. Furthermore, we derive from a geometric perspective the complete nilpotent orbit classification of codimension-two defects, and the connection to ADE-type Toda CFT. The only data needed to specify the defects is a set of weights of the algebra obeying certain constraints, which we give explicitly. We highlight the differences between the defect classification in the little string theory and its (2, 0) CFT limit.

  8. Geometric Defects in Quantum Hall States

    Gromov, Andrey


    We describe a geometric (or gravitational) analogue of the Laughlin quasiholes in the fractional quantum Hall states. Analogously to the quasiholes these defects can be constructed by an insertion of an appropriate vertex operator into the conformal block representation of a trial wavefunction, however, unlike the quasiholes these defects are extrinsic and do not correspond to true excitations of the quantum fluid. We construct a wavefunction in the presence of such defects and explain how to assign an electric charge and a spin to each defect, and calculate the adiabatic, non-abelian statistics of the defects. The defects turn out to be equivalent to the genons in that their adiabatic exchange statistics can be described in terms of representations of the mapping class group of an appropriate higher genus Riemann surface. We present a general construction that, in principle, allows to calculate the statistics of $\\mathbb Z_n$ genons for any "parent" topological phase. We illustrate the construction on the ex...

  9. Cardiac arrhythmias and conduction defects in systemic sclerosis.

    Vacca, Alessandra; Meune, Christophe; Gordon, Jessica; Chung, Lorinda; Proudman, Susanna; Assassi, Shervin; Nikpour, Mandana; Rodriguez-Reyna, Tatiana S; Khanna, Dinesh; Lafyatis, Robert; Matucci-Cerinic, Marco; Distler, Oliver; Allanore, Yannick


    Signs and symptoms of arrhythmias or conduction defects are frequently reported in patients with SSc. These rhythm disorders may have several origins (i.e., related to primary heart involvement, pericardial disease, valvular regurgitation or pulmonary arterial hypertension) and may negatively affect the overall prognosis of these patients. It is therefore important to identify patients at high risk for cardiac arrhythmias with a complete cardiological evaluation and to identify the underlying heart disease, including SSc-related myocardial involvement. In addition, some therapeutic options in SSc patients may differ from those recommended in other populations.

  10. The heart-liver metabolic axis: defective communication exacerbates disease.

    Baskin, Kedryn K; Bookout, Angie L; Olson, Eric N


    The heart has been recognized as an endocrine organ for over 30 years (de Bold, 2011); however, little is known about how the heart communicates with other organs in the body, and even less is known about this process in the diseased heart. In this issue of EMBO Molecular Medicine, Magida and Leinwand (2014) introduce the concept that a primary genetic defect in the heart results in aberrant hepatic lipid metabolism, which consequently exacerbates hypertrophic cardiomyopathy (HCM). This study provides evidence in support of the hypothesis that crosstalk occurs between the heart and liver, and that this becomes disrupted in the diseased state.

  11. Reconstruction of partial laryngopharyngectomy defects.

    Anthony, J P; Neligan, P C; Rotstein, L E; Coleman, J


    As our contributors to this section have pointed out, there are at present two main methods of reconstructing defects of the pharynx and cervical esophagus: free jejunal transfer (FJT) and tubed radial forearm flap. The advantage of the FJT is that it is a tube, thus limiting the enteric suture lines to proximal and distal. The radial forearm flap requires not only the proximal and distal suture lines but a long longitudinal suture line to create the tube. This increase the possibility for fistula formation. The controversy surrounding this case concerns what to do with a remaining mucosal strip after a subtotal laryngectomy. Traditional reconstructive principles would dictate that normal tissue should not be sacrificed, but some would argue that the remaining mucosa should be sacrificed to allow for use of a FJT. The other alternative would be use of a radical forearm skin flap tubed to 270 degrees. At the University of Texas M. D. Anderson Cancer Center, we preferentially use the FJT for almost all defects and would probably have sacrificed the remaining mucosal strip in this particular case. We have used skin flaps to patch pharyngeal defects and prevent stricture in a number of cases. This is usually done however when the remaining pharyngeal mucosa approaches 50% or greater. Although we do not routinely use the tubed radial forearm flap because of the increased rate of fistula formation, there are some definite indications for its use. The first important indication is in patients in whom speech rehabilitation is desired or indicated. The skin flap provides a stiffer resonating chamber for the speech production and does not have the peristalsis or the mucus production associated with the jejunal flap. Another indication for use of radial forearm flap would be when there is a contraindication to celiotomy, ie, patients with hepatic cirrhosis and associated ascites or other abdominal conditions precluding abdominal exploration. In this situation, avoiding an

  12. [Primary lipodystrophies].

    Capeau, J; Magré, J; Lascols, O; Caron, M; Béréziat, V; Vigouroux, C


    Primary lipodystrophies represent a heterogeneous group of very rare diseases with a prevalence of less than 1 case for 100.000, inherited or acquired, caracterized by a loss of body fat either generalized or localized (lipoatrophy). In some forms, lipoatrophy is associated with a selective hypertrophy of other fat depots. Clinical signs of insulin resistance are often present: acanthosis nigricans, signs of hyperandrogenism. All lipodystrophies are associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes and hypertriglyceridemia leading to a risk of acute pancreatitis. Chronic complications are those resulting from diabetes involving the retina, kidney and nerves, cardiovascular complications and steatotic liver lesions that could result in cirrhosis. Genetic forms of generalized lipodystrophy (or Berardinelli-Seip syndrome) result, in most cases, from recessive mutations in one of two genes: either BSCL2 coding seipin or BSCL1 coding AGPAT2, an acyl-transferase involved in triglyceride synthesis. Acquired generalized lipodystrophy (Lawrence syndrome) is of unknown origin but is sometimes associated with signs of autoimmunity. Partial lipodystrophies can be familial with dominant transmission. Heterozygous mutations have been identified in the LMNA gene encoding nuclear lamin A/C belonging to the nuclear lamina, or in PPARG encoding the adipogenic transcription factor PPARgamma. Some less typical lipodystrophies, associated with signs of premature aging, have been linked to mutations in LMNA or in the ZMPSTE24 gene encoding the protease responsible for the maturation of prelamin A into lamin A. Acquired partial lipodystrophy (Barraquer-Simons syndrome) is characterized by cephalothoracic fat loss. Its aetiology is unknown but mutations in LMNB2, encoding the lamina protein lamin B2, could represent susceptibility factors. Highly active antiretroviral treatments for HIV infection are currently the most frequent cause

  13. Defect Characterization Using Two-Dimensional Arrays

    Velichko, A.; Wilcox, P. D.


    2D arrays are able to `view' a given defect from a range of angles leading to the possibility of obtaining richer characterization detail than possible with 1D arrays. In this paper a quantitative comparison of 2D arrays with different element layouts is performed. A technique for extracting the scattering matrix of a defect from the raw 2D array data is also presented. The method is tested on experimental data for characterization of various volumetric defects.

  14. Folding defect affine Toda field theories

    Robertson, C


    A folding process is applied to fused a^(1)_r defects to construct defects for the non-simply laced affi?ne Toda ?field theories of c^(1)_n, d^(2)_n and a^(2)_n at the classical level. Support for the hypothesis that these defects are integrable in the folded theories is provided by the observation that transmitted solitons retain their form. Further support is given by the demonstration that energy and momentum are conserved.

  15. Theory and Phenomenology of Spacetime Defects

    Hossenfelder, Sabine


    Whether or not space-time is fundamentally discrete is of central importance for the development of the theory of quantum gravity. If the fundamental description of space-time is discrete, typically represented in terms of a graph or network, then the apparent smoothness of geometry on large scales should be imperfect -- it should have defects. Here, we review a model for space-time defects and summarize the constraints on the prevalence of these defects that can be derived from observation.

  16. Detection of Surface Defects on Compact Discs

    Odgaard, Peter Fogh; Stoustrup, Jakob; Andersen, Palle


    Online detection of surface defects on optical discs is of high importance for the accommodation schemes handling these defects. These surface defects introduce fault components to the position measurements of focus and radial tracking positions. The respective controllers will accordingly try to...... in order to inspect the importance and consequences of the size of the detection delay, from which it can be seen that focus and radial position errors increase significantly due to the fault as the detection delay increases....

  17. Welding defects at friction stir welding

    P. Podržaj


    Full Text Available The paper presents an overview of different types of defects at friction stir welding. In order to explain the reasons for their occurrence a short theoretical background of the process is given first. The main emphasis is on the parameters that influence the process. An energy supply based division of defects into three disjoint groups was used. The occurring defects are demonstrated on various materials.

  18. Topological defects in two-dimensional crystals

    Chen, Yong; Qi, Wei-Kai


    By using topological current theory, we study the inner topological structure of the topological defects in two-dimensional (2D) crystal. We find that there are two elementary point defects topological current in two-dimensional crystal, one for dislocations and the other for disclinations. The topological quantization and evolution of topological defects in two-dimensional crystals are discussed. Finally, We compare our theory with Brownian-dynamics simulations in 2D Yukawa systems.

  19. Phosphorous–vacancy–oxygen defects in silicon

    Wang, Hao


    Electronic structure calculations employing the hybrid functional approach are used to gain fundamental insight in the interaction of phosphorous with oxygen interstitials and vacancies in silicon. It recently has been proposed, based on a binding energy analysis, that phosphorous–vacancy–oxygen defects may form. In the present study we investigate the stability of this defect as a function of the Fermi energy for the possible charge states. Spin polarization is found to be essential for the charge neutral defect.

  20. The impacts of piezoelectric element's defects on color and power doppler images

    Lee, Kyung Sung [Dept. of Radiotechnology, Cheju Halla University, Cheju (Korea, Republic of)


    An ultrasound probe has a big impact on Doppler images even though it has very high risk of frequent function-breakdowns occurring in medical ultrasound scanners. This study experimentally analyses the impacts of an ultrasonic probe’s defected elements on power and color Doppler images. The results show that, the bigger the size of defected probe elements is, and the closer a group of action elements is to the center, the more the brightness of images and the velocity of Doppler diminish. When elements’ defects increase in color and power Doppler images, false images are formed to be mistaken for blood-vessel plaque in neighboring regions. Accordingly, whenever element defects are suspected, we need check-up process in B-mode. From this respective, it is advisable to have primary interest in a probe and carry out continuous probe QA for ultrasonography.

  1. Use of the osteomuscular dorsal scapular flap in the reconstruction of mandibular defects.

    Nthumba, Peter M


    The gold standard for mandibular defect reconstruction is the fibular free flap. Nevertheless, the pedicled osteomuscular dorsal scapular flap as a reconstructive tool offers promise for mandibular defect reconstruction and could be the first choice in certain circumstances. Its use in resource-limited settings offers an excellent solution to otherwise difficult reconstructive problems of the mandible. In 8 patients, mandibular defects resulting from the excision of benign tumors (6), trauma (1), and chronic osteomyelitis (1) were reconstructed using the pedicled osteomuscular dorsal scapular flap; these defects included the central segment of the mandible. The pedicled osteomuscular dorsal scapular flap is an excellent choice for mandibular reconstruction; it may serve as the primary choice in patients with vascular pathology that precludes free tissue transfer, as well as in resource-limited environments, as a secondary choice after a failed free flap reconstruction.

  2. Versatility of Tongue Flaps for Closure of Palatal Defects- Case Report

    Mohan, Vishnu; Nair, Roopesh U


    Palatal defects following congenital anomalies, traumatic injuries, benign and malignant pathologies frequently require resection and reconstruction. Reconstruction of these defects is challenging and complex due to the amount of tissue left for primary closure after excision, compromised vasculature as on repaired cleft palate and limited pedicled flaps around the lesion. Tongue flap though doesn’t fulfil all the ideal requirements of a flap, however because of its flexibility, good blood supply and position it can be considered as the best among other flaps for reconstruction of oral and palatal defects. In this article we describe two different cases in which tongue flap was used to reconstruct palatal defects, one an oroantral communication secondary to a tumour excision and the other an oro-nasal fistula secondary to cleft palate repair. PMID:28274072

  3. A study on the factors that affect the advanced mask defect verification

    Woo, Sungha; Jang, Heeyeon; Lee, Youngmo; Kim, Sangpyo; Yim, Donggyu


    Defect verification has become significantly difficult to higher technology nodes over the years. Traditional primary method of defect (include repair point) control consists of inspection, AIMS and repair steps. Among them, AIMS process needs various wafer lithography conditions, such as NA, inner/outer sigma, illumination shape and etc. It has a limit to analyze for every layer accurately because AIMS tool uses the physical aperture system. And it requires meticulous management of exposure condition and CD target value which change frequently in advanced mask. We report on the influence of several AIMS parameters on the defect analysis including repair point. Under various illumination conditions with different patterns, it showed the significant correlation in defect analysis results. It is able to analyze defect under certain error budget based on the management specification required for each layer. In addition, it provided us with one of the clues in the analysis of wafer repeating defect. Finally we will present 'optimal specification' for defect management with common AIMS recipe and suggest advanced mask process flow.

  4. Reliability of CBCT as an assessment tool for mandibular molars furcation defects

    Marinescu, Adrian George; Boariu, Marius; Rusu, Darian; Stratul, Stefan-Ioan; Ogodescu, Alexandru


    Introduction. In numerous clinical situations it is not possible to have an exact clinical evaluation of the furcation defects. Recently the use of CBCT in periodontology has led to an increased precision in diagnostic. Aim. To determine the accuracy of CBCT as diagnostic tool of the furcation defects. Material and method. 19 patients with generalised advanced chronic periodontitis were included in this study, presenting a total of 25 lower molars with different degrees of furcation defects. Clinical and digital measurements (in mm) were performed on all the molars involved. The data obtained has been compared and statistically analysed. Results. The analysis of primary data has demonstrated that all the furcation grade II and III defects were revealed using the CBCT technique. Regarding the incipient defects (grade I Hamp Conclusions. The use of CBCT technique in evaluation and diagnosis of human mandibular furcation defects can provide many important information regarding the size and aspect of the interradicular defect, efficiently and noninvasively. CBCT technique is used more effectively in detection of advanced furcation degree compared to incipient ones. However, the CBCT examination cannot replace, at least in this stage of development, the clinical measurements, especially the intraoperative ones, which are considered to represent the „golden standard" in this domain.

  5. Defect interactions within a group of subcascades

    Heinisch, H.L. [Pacific Northwest National Lab., Richland, WA (United States)


    The evolution of the defect distributions within high energy cascades that contain multiple subcascades is studied as a function of temperature for cascades in copper. Low energy cascades generated with molecular dynamics are placed in close proximity to simulate the arrangement of subcascades within a high energy event, then the ALSOME code follows the evolution of the cascade damage during short term annealing. The intersubcascade defect interactions during the annealing stage are found to be minimal. However, no conclusions regarding effects of subcascades on defect production should be drawn until intersubcascade defect interactions during the quenching stage are examined.

  6. Antigravity from a spacetime defect

    Klinkhamer, F R


    A nonsingular localized static classical solution is constructed for standard Einstein gravity coupled to an SO(3)\\times SO(3) chiral model of scalars [Skyrme model]. The construction proceeds in three steps. First, an Ansatz is presented for a solution with nontrivial topology of the spacetime manifold. Second, an exact vacuum solution of the reduced field equations is obtained. Third, matter fields are included and a numerical solution is found. This numerical solution has a negative effective mass, meaning that the gravitational force on a distant point mass is repulsive. The origin of the negative effective mass must lie in the surgery needed to create the "defect" from Minkowski spacetime, but this process involves topology change and lies outside the realm of classical Einstein gravity.

  7. Renyi entropy and conformal defects

    Bianchi, Lorenzo [Humboldt-Univ. Berlin (Germany). Inst. fuer Physik; Hamburg Univ. (Germany). II. Inst. fuer Theoretische Physik; Meineri, Marco [Scuola Normale Superiore, Pisa (Italy); Perimeter Institute for Theoretical Physics, Waterloo, ON (Canada); Istituto Nazionale di Fisica Nucleare, Pisa (Italy); Myers, Robert C. [Perimeter Institute for Theoretical Physics, Waterloo, ON (Canada); Smolkin, Michael [California Univ., Berkely, CA (United States). Center for Theoretical Physics and Department of Physics


    We propose a field theoretic framework for calculating the dependence of Renyi entropies on the shape of the entangling surface in a conformal field theory. Our approach rests on regarding the corresponding twist operator as a conformal defect and in particular, we define the displacement operator which implements small local deformations of the entangling surface. We identify a simple constraint between the coefficient defining the two-point function of the displacement operator and the conformal weight of the twist operator, which consolidates a number of distinct conjectures on the shape dependence of the Renyi entropy. As an example, using this approach, we examine a conjecture regarding the universal coefficient associated with a conical singularity in the entangling surface for CFTs in any number of spacetime dimensions. We also provide a general formula for the second order variation of the Renyi entropy arising from small deformations of a spherical entangling surface, extending Mezei's results for the entanglement entropy.

  8. ATR inhibition induces synthetic lethality and overcomes chemoresistance in TP53- or ATM-defective chronic lymphocytic leukemia cells.

    Kwok, Marwan; Davies, Nicholas; Agathanggelou, Angelo; Smith, Edward; Oldreive, Ceri; Petermann, Eva; Stewart, Grant; Brown, Jeff; Lau, Alan; Pratt, Guy; Parry, Helen; Taylor, Malcolm; Moss, Paul; Hillmen, Peter; Stankovic, Tatjana


    TP53 and ataxia telangiectasia mutated (ATM) defects are associated with genomic instability, clonal evolution, and chemoresistance in chronic lymphocytic leukemia (CLL). Currently, therapies capable of providing durable remissions in relapsed/refractory TP53- or ATM-defective CLL are lacking. Ataxia telangiectasia and Rad3-related (ATR) mediates response to replication stress, the absence of which leads to collapse of stalled replication forks into chromatid fragments that require resolution through the ATM/p53 pathway. Here, using AZD6738, a novel ATR kinase inhibitor, we investigated ATR inhibition as a synthetically lethal strategy to target CLL cells with TP53 or ATM defects. Irrespective of TP53 or ATM status, induction of CLL cell proliferation upregulated ATR protein, which then became activated in response to replication stress. In TP53- or ATM-defective CLL cells, inhibition of ATR signaling by AZD6738 led to an accumulation of unrepaired DNA damage, which was carried through into mitosis because of defective cell cycle checkpoints, resulting in cell death by mitotic catastrophe. Consequently, AZD6738 was selectively cytotoxic to both TP53- and ATM-defective CLL cell lines and primary cells. This was confirmed in vivo using primary xenograft models of TP53- or ATM-defective CLL, where treatment with AZD6738 resulted in decreased tumor load and reduction in the proportion of CLL cells with such defects. Moreover, AZD6738 sensitized TP53- or ATM-defective primary CLL cells to chemotherapy and ibrutinib. Our findings suggest that ATR is a promising therapeutic target for TP53- or ATM-defective CLL that warrants clinical investigation.

  9. Experimental study of point-defect creation in high-energy heavy-ion tracks

    Perez, A.; Balanzat, E.; Dural, J.


    Thin platelets of LiF crystals have been bombarded on the side with Ne (40 MeV/amu), Ar (60 MeV/amu), Kr (42 MeV/amu), and Xe (27 MeV/amu) ions at room temperature in the dose range from 108 to 1013 ions cm-2. Taking into account the large penetration depths of these high-energy ions (~=1.4, 1.8, 0.6, and 0.2 mm for Ne, Ar, Kr, and Xe, respectively), it was possible to measure the depth distribution profiles of primary point defects (F centers) and aggregated defects (F2 centers) using a microspectrophotometric technique. These defects are localized in tracks surrounding the ion trajectories in which the energy is deposited by the δ rays emitted. Concerning the creation of primary defects, it has been shown that each individual track is saturated with F centers (~=4×1018 F centers/cm3). From the evolution of the F center depth profiles as a function of the ion doses, using a model of saturated tracks, it has been possible to determine the radii of the tracks all along the ion trajectories. These radii, which are of the order of 7.5, 8, 14, and 32 nm at the entrance in the crystals for Ne, Ar, Kr, and Xe, respectively, increase continuously up to the values of 12, 16, 20, and 44 nm during the slowing down of the ions up to the end of the trajectories. In the wide range of energy deposition into electronic processes studied (from 0.2 to 20 MeV μm-1), a continuous behavior of the primary-defect creation is observed. This seems to indicate that the same excitonic mechanism is responsible of the primary-Frenkel-pair creation in the volume of the track irradiated by the secondary electrons and other mechanisms such as Coulomb explosion or melting, which could take place in the tracks above a certain dissipated-energy threshold, must be ruled out. Finally, the specificity of damaging with ions compared with other irradiation modes (electrons or electromagnetic radiation) is mainly observed with aggregated defects. Due to the high energy density dissipated in the tracks

  10. Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

    Desrosiers, T.A.; Herring, A.H.; Shapira, S.K.; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; Lin, S.; Olshan, A.F.


    Objectives: Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation

  11. Surgical closure of postlaryngectomy pharyngocutaneous fistula: a defect based approach.

    Magdy, Emad A


    Surgical repair of postlaryngectomy pharyngocutaneous fistula (PCF) can be challenging. Although several studies describe separate reconstruction methods, only few address the variability in defect characteristics and hence flap selection. The current clinical study presents a retrospective review of 19 patients who underwent surgical repair of persistent PCFs, over a 4-year period in a tertiary referral institute by a single primary surgeon. All but one patient were men with a mean age of 61 +/- 10 years. Nine patients had previous unsuccessful attempts for surgical closure. Previous neck irradiation was the most common comorbid condition encountered (52.6%), followed by low hemoglobin level (47.4%), hepatic disease (36.8%) and diabetes mellitus (31.6%). According to defect characteristics, six patients received a local cervical skin procedure, ten patients had reconstructions using the pectoralis major musculocutaneous flap and three patients required a radial forearm free flap repair. All PCFs were eventually successfully closed with no major complications. Patients were followed-up for an average of 19.7 months (range, 5-38 months). Acceptable oral swallowing results were achieved in all but one patient. In conclusion, successful results are achievable in difficult persistent PCF cases with a defect based reconstruction approach kept in mind.

  12. Renal acidification defects in patients with their first renal stone episode

    Osther, P J; Hansen, A B; Röhl, H F


    tubular acidosis, the rest had normal urinary acidification. In view of the short duration of stone disease in the patients studied, the acidification defects were considered to be primary, and the stone formation secondary. The results justify extension of these simple screening procedures for unmasking...


    А. V. Bilchenko


    Full Text Available The drawbacks of organizational and technical means of bridge construction and operation in Ukraine are presented. A problem of the primary impact of hydroisolation and water-disposal on occurrence of defects in loadcarrying bridge structures is raised.

  14. Reconstruction of an extended defect in the axilla using a thoracodorsal fasciocutaneous perforator flap

    Visconti, Giuseppe; Eltahir, Yassir; Van Ginkel, Robert J; Werker, Paul M N


    BACKGROUND: Ectopic primary carcinoma of breast tissue is a rare entity, and its diagnosis often is delayed. The axilla is the most common site involved. The Limberg flap as a random flap is easy and practicable for coverage of many defects including those involving the axilla. In the reported case,

  15. Bladder Perforation Secondary to Primary Systemic Amyloidosis

    Christopher J. Dru


    Full Text Available Amyloidosis is a disorder of protein folding characterized by extracellular aggregation and deposition of amyloid protein fibrils. Light-chain amyloidosis, also known as primary systemic amyloidosis, is the most common form of the disease. We present a case of an 84-year-old male with a history of systemic primary amyloidosis causing genitourinary, cardiac, and autonomic dysfunction who presented with hematuria and hypotension secondary to bladder perforation. He underwent open repair of a large extraperitoneal bladder defect. He ultimately died as a result of medical complications from his disease.

  16. Immunoglobulin Replacement Therapy for Primary Immunodeficiency.

    Sriaroon, Panida; Ballow, Mark


    Immunoglobulin replacement therapy has been standard treatment in patients with primary immunodeficiency diseases for the past 3 decades. The goal of therapy is to reduce serious bacterial infections in individuals with antibody function defects. Approximately one-third of patients receiving intravenous immunoglobulin treatment experience adverse reactions. Recent advances in manufacturing processes have resulted in products that are safer and better tolerated. Self-infusion by the subcutaneous route has become popular and resulted in better quality of life. This review summarizes the use of immunoglobulin therapy in primary immunodeficiency diseases including its properties, dosing, adverse effects, and different routes of administration.

  17. Modeling the relationships among internal defect features and external Appalachian hardwood log defect indicators

    R. Edward. Thomas


    As a hardwood tree grows and develops, surface defects such as branch stubs and wounds are overgrown. Evidence of these defects remain on the log surface for decades and in many instances for the life of the tree. As the tree grows the defect is encapsulated or grown over by new wood. During this process the appearance of the defect in the tree's bark changes. The...

  18. Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study

    Desrosiers, T.A.; Herring, A H; Shapira, S K; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; LIN, S.; Olshan, A.F.


    Objectives: Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation and birth defects in a case–control study of cases comprising over 60 different types of birth defects (n=9998) and non-malformed controls (n=4066) with dates of delivery between 1997 and 2004. Me...

  19. Method and instrumentation for detection of rail defects, in particular rail top defects

    Li, Z.; Molodova, M.


    A method and instrumentation for detection of rail defects, in particular rail top defects, in a railway-track by measuring an axle box acceleration signal of a rail vehicle, wherein a longitudinal axle box acceleration signal is used as a measure to detect the occurrence of said rail defects, in pa

  20. Radiographic defect depth and width for prognosis and description of periodontal healing of infrabony defects.

    Klein, F; Kim, T S; Hassfeld, S; Staehle, H J; Reitmeir, P; Holle, R; Eickholz, P


    The aims of the present study were to evaluate 1) defect depth and width as a prognostic factor and 2) change in defect width as a describing parameter of periodontal healing in infrabony defects treated by regenerative therapy after 6 and 24 months. In 24 patients with advanced periodontitis, 39 infrabony defects were treated by guided tissue regeneration (GTR) using expanded polytetrafluoroethylene (ePTFE) (n = 7) or bioabsorbable barriers (n = 32). Clinical parameters were assessed and 39 standardized radiographs (in triplicate) were taken before and 6 and 24 months after surgery. Using a computer-assisted analysis, the depth, width, and angle of the bony defects were measured. Statistically significant vertical clinical attachment gains (CAL-V: 3.15 +/- 1.63 mm to 3.31 +/- 1.65 mm; P or = 3 mm) infrabony defects bony fill was more pronounced than in wide and shallow defects (P <0.05). Improvement achieved by guided tissue regeneration in infrabony defects can be maintained up to 24 months after surgery. Narrow and deep infrabony defects respond radiographically and to some extent clinically more favorably to GTR therapy than wide and shallow defects. However, depth of the infrabony component was a stronger prognostic parameter than defect angle. Actual smoking impairs the results of GTR therapy in infrabony defects.

  1. Predicting internal white oak (Quercus alba) log defect features using surface defect indicator measurements

    Ralph E. Thomas


    As hardwood trees grow and develop, surface defects such as limb stubs and wounds are overgrown and encapsulated into the tree. Evidence of these defects can remain on the tree's surface for decades and in many instances for the life of the tree. The location and severity of internal defects dictate the quality and value of products that can be obtained from logs...

  2. On varieties with higher osculating defect

    De Poi, Pietro; Ilardi, Giovanna


    In this paper, using the method of moving frames, we generalise some of Terracini's results on varieties with tangent defect. In particular, we characterise varieties with higher order osculating defect in terms of Jacobians of higher fundamental forms and moreover we characterise varieties with "small" higher fundamental forms as contained in scrolls.

  3. 30 CFR 56.7002 - Equipment defects.


    ... Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND NONMETAL MINE SAFETY AND HEALTH SAFETY AND HEALTH STANDARDS-SURFACE METAL AND NONMETAL MINES Drilling and Rotary Jet Piercing Drilling § 56.7002 Equipment defects. Equipment defects affecting safety shall be corrected...

  4. 30 CFR 57.7002 - Equipment defects.


    ... Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND NONMETAL MINE SAFETY AND HEALTH SAFETY AND HEALTH STANDARDS-UNDERGROUND METAL AND NONMETAL MINES Drilling and Rotary Jet Piercing Drilling-Surface Only § 57.7002 Equipment defects. Equipment defects affecting...

  5. Unsound defect volume in hardwood pallet cants

    Philip Araman; Matt Winn; Firoz Kabir; Xavier Torcheux; Guillaume Loizeaud


    A study was conducted to determine the percentage of unsound defect volume to sound/clear wood in pallet cants at selected sawmills in Virginia and West Virginia. Splits,wane, shake, holes, decay, unsound knots, bark pockets, and mechanical defects were all considered to be unsound. Data were collected from seven Appalachian area sawmills for four hardwood species: red...

  6. Birth defects in children with newborn encephalopathy

    Felix, JF; Badawi, N; Kurinczuk, JJ; Bower, C; Keogh, JM; Pemberton, PJ


    This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association

  7. 7 CFR 52.780 - Defects.


    ... PROCESSED FRUITS AND VEGETABLES, PROCESSED PRODUCTS THEREOF, AND CERTAIN OTHER PROCESSED FOOD PRODUCTS 1... cherry. (b) (A) classification. Canned red tart pitted cherries that are practically free from defects...) (B) classification. Canned red tart pitted cherries that are reasonably free from defects may...

  8. Orbital dystopia due to orbital roof defect.

    Rha, Eun Young; Joo, Hong Sil; Byeon, Jun Hee


    We performed a retrospective review of patients who presented with delayed dystopia as a consequence of an orbital roof defect due to fractures and nontraumatic causes to search for a correlation between orbital roof defect size and surgical indications for the treatment thereof. Retrospective analyses were performed in 7 patients, all of whom presented with delayed dystopia due to orbital roof defects, between January 2001 and June 2011. The causes of orbital roof defects were displaced orbital roof fractures (5 cases), tumor (1 case), and congenital sphenoid dysplasia (1 case). All 7 patients had initially been treated conservatively and later presented with significant dystopia. The sizes of the defects were calculated on computed tomographic scans. Among the 7 patients, aspiration of cerebrospinal fluid, which caused ocular symptoms, in 1 patient with minimal displaced orbital roof and reconstruction with calvarial bone, titanium micromesh, or Medpor in 6 other patients were performed. The minimal size of the orbital roof in patients who underwent orbital roof reconstruction was 1.2 cm (defect height) x 1.0 cm (defect length), 0.94 cm(2). For all patients with orbital dystopia, displacement of the globe was corrected without any complications, regardless of whether the patient was evaluated grossly or by radiology. In this retrospective study, continuous monitoring of clinical signs and active surgical management should be considered for cases in which an orbital roof defect is detected, even if no definite symptoms are noted, to prevent delayed sequelae.

  9. Indicators for Building Process without Final Defects -

    Jørgensen, Kirsten; Rasmussen, Grane Mikael Gregaard; Thuesen, Christian Langhoff


    This article introduces the preliminary data analysis, as well as the underlying theories and methods for identifying the indicators for building process without final defects. Since 2004, the Benchmark Centre for the Danish Construction Sector (BEC) has collected information about legal defects ...

  10. Positron analysis of defects in metals

    van Veen, A; Kruseman, AC; Schut, H; Mijnarends, PE; Kooi, BJ; De Hosson, JTM; Jean, YC; Eldrup, M; Schrader, DM; West, RN


    New methods are discussed to improve defect analysis. The first method employs mapping of two shape parameters, S and W, of the positron annihilation photopeak. It is demonstrated that the combined use of S and W allows to a better discrimination of defects. The other method is based on background s

  11. Renal acidification defects in medullary sponge kidney

    Osther, P J; Hansen, A B; Røhl, H F


    patients had some form of renal acidification defect; 8 had the distal type of renal tubular acidosis, 2 the complete and 6 the incomplete form. One patient had proximal renal tubular acidosis. These findings, which suggest that renal acidification defects play an important role in the pathogenesis...

  12. Simple intrinsic defects in InAs :

    Schultz, Peter Andrew


    This Report presents numerical tables summarizing properties of intrinsic defects in indium arsenide, InAs, as computed by density functional theory using semi-local density functionals, intended for use as reference tables for a defect physics package in device models.

  13. Birth defects in children with newborn encephalopathy

    Felix, JF; Badawi, N; Kurinczuk, JJ; Bower, C; Keogh, JM; Pemberton, PJ


    This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association betwe

  14. Opioid Use and Neural Tube Defects

    ... to start in 2014). These studies work to identify risk factors for birth defects and to answer questions ... Prevention Study. Maternal treatment with opioid analgesics and risk for birth defects. American Journal of Obstetrics and Gynecology . 2011;204(4):314. ...

  15. Line defects and (framed) BPS quivers

    Cirafici, Michele


    The BPS spectrum of certain N=2 supersymmetric field theories can be determined algebraically by studying the representation theory of BPS quivers. We introduce methods based on BPS quivers to study line defects. The presence of a line defect opens up a new BPS sector: framed BPS states can be bound to the defect. The defect can be geometrically described in terms of laminations on a curve. To a lamination we associate certain elements of the Leavitt path algebra of the BPS quiver and use them to compute the framed BPS spectrum. We also provide an alternative characterization of line defects by introducing framed BPS quivers. Using the theory of (quantum) cluster algebras, we derive an algorithm to compute the framed BPS spectra of new defects from known ones. Line defects are generated from a framed BPS quiver by applying certain sequences of mutation operations. Framed BPS quivers also behave nicely under a set of "cut and join" rules, which can be used to study how N=2 systems with defects couple to produc...

  16. Microphthalmia with linear skin defects syndrome.

    García-Rabasco, Ana; De-Unamuno, Blanca; Martínez, Francisco; Febrer-Bosch, Isabel; Alegre-de-Miquel, Víctor


    Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.

  17. A collagen defect in homocystinuria.

    Kang, A H; Trelstad, R L


    the two patients examined, reflecting a functional defect in collagen cross-linking. Although the concentration of homocysteine used in this study to demonstrate these effects in vitro is clearly higher than that which is observed in homocystinuric's plasma, the data do suggest a possible pathogenetic mechanism of connective tissue defect in homocystinuria.

  18. Electron beam generation and structure of defects in carbon and boron nitride nano-tubes

    Zobelli, A


    The nature and role of defects is of primary importance to understand the physical properties of C and BN (boron nitride) single walled nano-tubes (SWNTs). Transmission electron microscopy (TEM) is a well known powerful tool to study the structure of defects in materials. However, in the case of SWNTs, the electron irradiation of the TEM may knock out atoms. This effect may alter the native structure of the tube, and has also been proposed as a potential tool for nano-engineering of nano-tubular structures. Here we develop a theoretical description of the irradiation mechanism. First, the anisotropy of the emission energy threshold is obtained via density functional based calculations. Then, we numerically derive the total Mott cross section for different emission sites of carbon and boron nitride nano-tubes with different chiralities. Using a dedicated STEM (Scanning Transmission Electron Microscope) microscope with experimental conditions optimised on the basis of derived cross-sections, we are able to control the generation of defects in nano-tubular systems. Either point or line defects can be obtained with a spatial resolution of a few nanometers. The structure, energetics and electronics of point and line defects in BN systems have been investigated. Stability of mono- and di- vacancy defects in hexagonal boron nitride layers is investigated, and their activation energies and reaction paths for diffusion have been derived using the nudged elastic band method (NEB) combined with density functional based techniques. We demonstrate that the appearance of extended linear defects under electron irradiation is more favorable than a random distribution of point defects and this is due to the existence of preferential sites for atom emission in the presence of pre-existing defects, rather than thermal vacancy nucleation and migration. (author)

  19. Primary cilia and signaling pathways in mammalian development, health and disease

    Veland, Iben R; Awan, Aashir; Pedersen, Lotte B


    on the surface of most growth-arrested or differentiated mammalian cells, and defects in their assembly or function are tightly coupled to many developmental defects, diseases and disorders. In normal tissues, the primary cilium coordinates a series of signal transduction pathways, including Hedgehog, Wnt...

  20. The Doppler peaks from a generic defect

    Magueijo, J


    We investigate which of the exotic Doppler peak features found for textures and cosmic strings are generic novelties pertaining to defects. We find that the ``out of phase'' texture signature is an accident. Generic defects, when they generate a secondary peak structure similar to inflation, apply to it an additive shift. It is not necessary for this shift to be ``out of phase''. We also show which factors are responsible for the absence of secondary oscillations found for cosmic strings. Within this general analysis we finally consider the conditions under which topological defects and inflation can be confused. It is argued that only \\Omega=1 inflation and a defect with a horizon size coherence length have a chance to be confused. Any other inflationary or defect model always differ distinctly. (To appear in the proceedings of the XXXIth Moriond meeting, ``Microwave Background Anisotropies'')

  1. Defect-Tolerant Monolayer Transition Metal Dichalcogenides

    Pandey, Mohnish; Rasmussen, Filip Anselm; Kuhar, Korina;


    -principles investigation of defect tolerance in 29 monolayer transition metal dichalcogenides (TMDs) of interest for nanoscale optoelectronics. We find that the TMDs based on group VI and X metals form deep gap states upon creation of a chalcogen (S, Se, Te) vacancy, while the TMDs based on group IV metals form only...... shallow defect levels and are thus predicted to be defect-tolerant. Interestingly, all the defect sensitive TMDs have valence and conduction bands with a very similar orbital composition. This indicates a bonding/antibonding nature of the gap, which in turn suggests that dangling bonds will fall inside...... the gap. These ideas are made quantitative by introducing a descriptor that measures the degree of similarity of the conduction and valence band manifolds. Finally, the study is generalized to nonpolar nanoribbons of the TMDs where we find that only the defect sensitive materials form edge states within...

  2. Defect and functionalized graphene for supercapacitor electrodes

    Taluja, Yogita; SanthiBhushan, Boddepalli; Yadav, Shekhar; Srivastava, Anurag


    The structural, electronic and transport properties of defected (single vacancy and double vacancy) and nitrogen functionalized graphene sheets have been analysed within the framework of Density Functional Theory (DFT) and non-equilibrium Green's function (NEGF) formalism for their possible application as supercapacitor electrodes. Formation energy calculations reveal the increasing stability of defect with nitrogen functional doping concentration at its edges. The extracted electronic properties reveal the presence of acceptor-type energy levels at Fermi level in the defected and functionalized sheets. Transport studies portray remarkable increase in electrical conductivity of graphene sheet after the formation of single vacancy defect and its functionalization. Especially, the Single Vacancy Trimerized pyridine-type defect (SVT) configuration has demonstrated superior thermodynamic stability as well as electrical conductance in comparison to all the other configurations.

  3. Defect studies of ZnSe nanowires

    Philipose, U; Saxena, Ankur; Ruda, Harry E [Centre for Nanotechnology, University of Toronto, 170 College Street, Toronto, ON, M5S 3E4 (Canada); Simpson, P J [Department of Physics and Astronomy, University of Western Ontario, London, ON, N6A 3K7 (Canada); Wang, Y Q; Kavanagh, K L [Department of Physics, Simon Fraser University, Burnaby, BC, V5A 1S6 (Canada)


    During the synthesis of ZnSe nanowires various point and extended defects can form, leading to observed stacking faults and twinning defects, and strong defect related emission in photoluminescence spectra. In this paper, we report on the development of a simple thermodynamic model for estimating the defect concentration in ZnSe nanowires grown under varying Se vapour pressure and for explaining the results of our experimental findings. Positron annihilation spectroscopy was used successfully for the first time for nanowires and the results support predictions from the defect model as well as agreeing well with our structural and optical characterization results. Under very high Se vapour pressure, Se nodules were observed to form on the sidewalls of the nanowire, indicating that beyond a limit, excess Se will begin to precipitate out of the liquid alloy droplet in the vapour-liquid-solid growth of nanowires.

  4. Online isolation of defects in cellular nanocomputers

    Teijiro Isokawa; Shin'ya Kowada; Ferdinand Peper; Naotake Kamiura; Nobuyuki Matsui


    Unreliability will be a major issue for computers built from components at nanometer scales.Thus,it's to be expected that such computers will need a high degree of defect-tolerance to overcome components' defects which have arisen during the process of manufacturing.This paper presents a novel approach to defect-tolerance that is especially geared towards nanocomputers based on asynchronous cellular automata.According to this approach,defective cells are detected and isolated by small configurations that move around randomly in cellular space.These configurations,called random flies,will attach to configurations that are static,which is typical for configurations that contain defective cells.On the other hand,dynamic configurations,like those that conduct computations,will not be isolated from the rest of the cellular space by the random flies,and will be able to continue their operations unaffectedly.

  5. The role of point defects and defect complexes in silicon device processing. Summary report and papers

    Sopori, B.; Tan, T.Y.


    This report is the summary of the third workshop on the role of point defects and defect complexes in silicon device processing. The workshop was organized: (1) to discuss recent progress in the material quality produced by photovoltaic Si manufacturers, (2) to foster the understanding of point defect issues in Si device processing, (3) to review the effects of inhomogeneities on large- area solar cell performance, (4) to discuss how to improve Si solar cell processing, and (5) to develop a new understanding of gettering, defect passivation, and defect annihilation. Separate abstract were prepared for the individual papers, for the database.

  6. The defective RNAs of Closteroviridae

    Munir eMawassi


    Full Text Available The family Closteroviridae consists of two genera, Closterovirus and Ampelovirus with monopartite genomes transmitted respectively by aphids and mealybugs and the Crinivirus with bipartite genomes transmitted by whiteflies. The Closteroviridae consists of more than thirty virus species, which differ considerably in their phytopathological significance. Some, like Beet yellows virus (BYV and Citrus tristeza virus (CTV were associated for many decades with their respective hosts, sugar beets and citrus. Others, like the grapevine leafroll-associated ampeloviruses 1, and 3 were also associated with their grapevine hosts for long periods; however difficulties in virus isolation hampered their molecular characterization. The majority of the recently identified Closteroviridae were probably associated with their vegetative propagated host plants for long periods and only detected through the considerable advances in dsRNA isolation and sequencing of PCR amplified replicons. Molecular characterization of CTV and several other Closteroviridae revealed that, in addition to genomic and subgenomic RNAs, infected plants contain several different subviral defective RNAs (dRNAs. The roles and biological functions of dRNAs associated with Closteroviridae remain terra incognita.

  7. Symmetry fractionalization and twist defects

    Tarantino, Nicolas; Lindner, Netanel H.; Fidkowski, Lukasz


    Topological order in two-dimensions can be described in terms of deconfined quasiparticle excitations—anyons—and their braiding statistics. However, it has recently been realized that this data does not completely describe the situation in the presence of an unbroken global symmetry. In this case, there can be multiple distinct quantum phases with the same anyons and statistics, but with different patterns of symmetry fractionalization—termed symmetry enriched topological order. When the global symmetry group G, which we take to be discrete, does not change topological superselection sectors—i.e. does not change one type of anyon into a different type of anyon—one can imagine a local version of the action of G around each anyon. This leads to projective representations and a group cohomology description of symmetry fractionalization, with the second cohomology group {H}2(G,{{ A }}{{abelian}}) being the relevant group. In this paper, we treat the general case of a symmetry group G possibly permuting anyon types. We show that despite the lack of a local action of G, one can still make sense of a so-called twisted group cohomology description of symmetry fractionalization, and show how this data is encoded in the associativity of fusion rules of the extrinsic ‘twist’ defects of the symmetry. Furthermore, building on work of Hermele (2014 Phys. Rev. B 90 184418), we construct a wide class of exactly-solvable models which exhibit this twisted symmetry fractionalization, and connect them to our formal framework.

  8. Muscular ventricular septal defects: A reappraisal of the anatomy

    Wenink, A.C.G.; Oppenheimer-Dekker, A.; Moulaert, A.J.


    Among 79 autopsy specimens of hearts with an isolated ventricular septal defect, there were 29 cases of muscular defect. Among 60 hearts with complete transposition of the great arteries and a ventricular septal defect, there were 13 cases with a muscular defect. All muscular defects could be classi

  9. Defect-Defect Interaction in Single-Walled Carbon Nanotubes Under Torsional Loading

    Huq, Abul M. A.; Bhuiyan, Abuhanif K.; Liao, Kin; Goh, Kheng Lim

    This paper presents an analysis of interactions between a pair of Stone-Wales (SW) defects in a single-walled carbon nanotube (SWCNT) that has been subjected to an external torque. Defect pairs, representing the different combinations of SW defect of A (SW-A) and B (SW-B) modes, were incorporated in SWCNT models of different chirality and diameter and solved using molecular mechanics. Defect-defect interaction was investigated by evaluating the C-C steric interactions in the defect that possesses the highest potential energy, E, as a function of inter-defect distance, D. This study reveals that the deformation of the C-C bond is attributed to bond stretching and bending. In the SW-B defects, there is an additional contributor arising from the dihedral angular deformation. The magnitude of E depends on the type of defect but the profile of the E versus D curve depends on the orientation of the defects. The largest indifference length, D0, beyond which two defects cease to interact, is approximately 30 Å. When the angular displacement of the tube increases two-fold, E increases, but the profile of the E versus D curve is not affected. The sense of rotation affects the magnitude of E but not the profile of the E versus D curve.

  10. Distribution of Defects in Wind Turbine Blades and Reliability Assessment of Blades Containing Defects

    Toft, Henrik Stensgaard; Branner, Kim; Berring, Peter


    on the assumption that one error in the production process tends to trigger several defects. For both models additional information about number, type and size of the defects is included as stochastic variables. The probability of failure for a wind turbine blade will not only depend on variations in the material...... properties and the load but also on potential defects in the blades. As a numerical example the probability of failure is calculated for the main spar both with and without defects in terms of delaminations. The delaminations increase the probability of failure compared to a perfect blade, but by applying......In the present paper two stochastic models for the distribution of defects in wind turbine blades are proposed. The first model assumes that the individual defects are completely randomly distributed in the blade. The second model assumes that the defects occur in clusters of different size based...

  11. Prevention of dental anomalies in children by prosthetics defects hard tooth tissues and dentitions: the need to possibilities

    Suetenkov D.Ye.; Pudovkina Е.А.; Venatovskaya N.V.; Proshin A.G.


    This article presents the possibility of restore the function and anatomy of the tooth and replacement of defects of dentition by prosthesis in children under the removable bite as a method of prevention of dentoalveolar anomalies. Identified the need for prosthetic treatment of children and the willingness of dentists as primary health care professional to address the problems identified. A clinical analysis of complex treatment of defects in the teeth with fixed restorations

  12. Characterization of Growth Defects in Nd:YCa4O(BO3)3 Crystals by Transmission Synchrotron Topography


    The growth detects in Nd:YCa4O(BO3)3(Nd:YCOB) crystals were investigated by transmission synchrotron topography.It was found that growth striations were the primary defects in Nd:YCOB crystals.Grown-in dislocations.mosaic blocks and inclusions were also obsered in the crystals.The effect of temperature field on the formation of growth defects in the crystals was discussed.

  13. Prevention of dental anomalies in children by prosthetics defects hard tooth tissues and dentitions: the need to possibilities

    Suetenkov D.Ye.


    Full Text Available This article presents the possibility of restore the function and anatomy of the tooth and replacement of defects of dentition by prosthesis in children under the removable bite as a method of prevention of dentoalveolar anomalies. Identified the need for prosthetic treatment of children and the willingness of dentists as primary health care professional to address the problems identified. A clinical analysis of complex treatment of defects in the teeth with fixed restorations

  14. [Perspectives in the management of congenital heart defects in adult patients].

    Hartyánszky, István; Varga, Sándor; Havasi, Kálmán; Babik, Barna; Katona, Márta; Bogáts, Gábor


    Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with "Fontan-circulation" type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy.

  15. Neutron-energy-dependent defect production cross sections for fission and fusion applications

    Odette, G.R.; Doiron, D.R.


    Neutron cross sections for displacements and post-short-term cascade annealing defects are derived from nuclear kinematics calculations of primary atomic recoil energy distributions and the number of secondary defects produced per primary as a function of recoil energy. For the first time, recoil kinematics of charged- and multiple-particle emission reactions are treated rigorously using a compound-nucleus evaporation spectrum nuclear model. Secondary-defect production functions, derived from computer simulation experiments, are taken from the literature. Spectral-averaged defect production cross sections for a fusion reactor first-wall-type environment are on the order of 1.5 to 2.5 times those for a fast fission reactor core-type spectrum. The indicated range of uncertainty is primarily due to secondary-defect production model sensitivity. Nuclear model and data errors are expected to become more significant at high neutron energies, greater than approximately 20 MeV. Fusion reactor environments are found to produce some very energetic recoils and high-energy release events due to charged-particle reactions such as (n,..cap alpha..).

  16. Studying post-etching silicon crystal defects on 300mm wafer by automatic defect review AFM

    Zandiatashbar, Ardavan; Taylor, Patrick A.; Kim, Byong; Yoo, Young-kook; Lee, Keibock; Jo, Ahjin; Lee, Ju Suk; Cho, Sang-Joon; Park, Sang-il


    Single crystal silicon wafers are the fundamental elements of semiconductor manufacturing industry. The wafers produced by Czochralski (CZ) process are very high quality single crystalline materials with known defects that are formed during the crystal growth or modified by further processing. While defects can be unfavorable for yield for some manufactured electrical devices, a group of defects like oxide precipitates can have both positive and negative impacts on the final device. The spatial distribution of these defects may be found by scattering techniques. However, due to limitations of scattering (i.e. light wavelength), many crystal defects are either poorly classified or not detected. Therefore a high throughput and accurate characterization of their shape and dimension is essential for reviewing the defects and proper classification. While scanning electron microscopy (SEM) can provide high resolution twodimensional images, atomic force microscopy (AFM) is essential for obtaining three-dimensional information of the defects of interest (DOI) as it is known to provide the highest vertical resolution among all techniques [1]. However AFM's low throughput, limited tip life, and laborious efforts for locating the DOI have been the limitations of this technique for defect review for 300 mm wafers. To address these limitations of AFM, automatic defect review AFM has been introduced recently [2], and is utilized in this work for studying DOI on 300 mm silicon wafer. In this work, we carefully etched a 300 mm silicon wafer with a gaseous acid in a reducing atmosphere at a temperature and for a sufficient duration to decorate and grow the crystal defects to a size capable of being detected as light scattering defects [3]. The etched defects form a shallow structure and their distribution and relative size are inspected by laser light scattering (LLS). However, several groups of defects couldn't be properly sized by the LLS due to the very shallow depth and low

  17. Robust defect segmentation in woven fabrics

    Sari-Sarraf, H.; Goddard, J.S. Jr.


    This paper describes a robust segmentation algorithm for the detection and localization of woven fabric defects. The essence of the presented segmentation algorithm is the localization of those events (i.e., defects) in the input images that disrupt the global homogeneity of the background texture. To this end, preprocessing modules, based on the wavelet transform and edge fusion, are employed with the objective of attenuating the background texture and accentuating the defects. Then, texture features are utilized to measure the global homogeneity of the output images. If these images are deemed to be globally nonhomogeneous (i.e., defects are present), a local roughness measure is used to localize the defects. The utility of this algorithm can be extended beyond the specific application in this work, that is, defect segmentation in woven fabrics. Indeed, in a general sense, this algorithm can be used to detect and to localize anomalies that reside in images characterized by ordered texture. The efficacy of this algorithm has been tested thoroughly under realistic conditions and as a part of an on-line fabric inspection system. Using over 3700 images of fabrics, containing 26 different types of defects, the overall detection rate of this approach was 89% with a localization accuracy of less than 0.2 inches and a false alarm rate of 2.5%.

  18. Platelet rich fibrin in jaw defects

    Nica, Diana; Ianes, Emilia; Pricop, Marius


    Platelet rich fibrin (PRF) is a tissue product of autologous origin abundant in growth factors, widely used in regenerative procedures. Aim of the study: Evaluation of the regenerative effect of PRF added in the bony defects (after tooth removal or after cystectomy) Material and methods: The comparative nonrandomized study included 22 patients divided into 2 groups. The first group (the test group) included 10 patients where the bony defects were treated without any harvesting material. The second group included 12 patients where the bony defects were filled with PRF. The bony defect design was not critical, with one to two walls missing. After the surgeries, a close clinically monitoring was carried out. The selected cases were investigated using both cone beam computer tomography (CBCT) and radiographic techniques after 10 weeks postoperatively. Results: Faster bone regeneration was observed in the bony defects filled with PRF comparing with the not grafted bony defects. Conclusions: PRF added in the bony defects accelerates the bone regeneration. This simplifies the surgical procedures and decreases the economic costs.

  19. Coulomb screening in graphene with topological defects

    Chakraborty, Baishali; Gupta, Kumar S.; Sen, Siddhartha


    We analyze the screening of an external Coulomb charge in gapless graphene cone, which is taken as a prototype of a topological defect. In the subcritical regime, the induced charge is calculated using both the Green's function and the Friedel sum rule. The dependence of the polarization charge on the Coulomb strength obtained from the Green's function clearly shows the effect of the conical defect and indicates that the critical charge itself depends on the sample topology. Similar analysis using the Friedel sum rule indicates that the two results agree for low values of the Coulomb charge but differ for the higher strengths, especially in the presence of the conical defect. For a given subcritical charge, the transport cross-section has a higher value in the presence of the conical defect. In the supercritical regime we show that the coefficient of the power law tail of polarization charge density can be expressed as a summation of functions which vary log periodically with the distance from the Coulomb impurity. The period of variation depends on the conical defect. In the presence of the conical defect, the Fano resonances begin to appear in the transport cross-section for a lower value of the Coulomb charge. For both sub and supercritical regime we derive the dependence of LDOS on the conical defect. The effects of generalized boundary condition on the physical observables are also discussed.

  20. Modeling of Powder Bed Manufacturing Defects

    Mindt, H.-W.; Desmaison, O.; Megahed, M.; Peralta, A.; Neumann, J.


    Powder bed additive manufacturing offers unmatched capabilities. The deposition resolution achieved is extremely high enabling the production of innovative functional products and materials. Achieving the desired final quality is, however, hampered by many potential defects that have to be managed in due course of the manufacturing process. Defects observed in products manufactured via powder bed fusion have been studied experimentally. In this effort we have relied on experiments reported in the literature and—when experimental data were not sufficient—we have performed additional experiments providing an extended foundation for defect analysis. There is large interest in reducing the effort and cost of additive manufacturing process qualification and certification using integrated computational material engineering. A prerequisite is, however, that numerical methods can indeed capture defects. A multiscale multiphysics platform is developed and applied to predict and explain the origin of several defects that have been observed experimentally during laser-based powder bed fusion processes. The models utilized are briefly introduced. The ability of the models to capture the observed defects is verified. The root cause of the defects is explained by analyzing the numerical results thus confirming the ability of numerical methods to provide a foundation for rapid process qualification.

  1. Point Defects in SiC

    Zvanut, Mary Ellen


    Production of high frequency, high power electronic devices using wide bandgap semiconductors has spurred renewed interest in point defects in SiC. Recent electron paramagnetic resonance (EPR) spectroscopy studies focus on centers in as-grown high purity semi-insulating substrates because intrinsic defects are thought to compensate unavoidable shallow centers, thus creating the high resistivity required. The EPR studies address the chemical/structural composition of the defects, the defect level (energy with respect to a band edge with which the defect can accept or release an electron) and thermal stability. Thus far, the positively charged carbon vacancy, the Si vacancy, a carbon-vacancy/carbon antisite pair, and several as yet-unidentified centers have been observed in as-grown electronic-grade 4H-SiC [1-3]. The talk will review the types of defects recently identified in SiC and discuss their possible relationship to compensation. The photo-induced EPR experiments used to determine defect levels will be discussed, with a particular focus on the carbon vacancy. The use of high frequency EPR to resolve the many different types of centers in SiC will also be covered. Finally, the presentation will review the thermal stability of the intrinsic defects detected in as-grown 4H SiC. 1. M. E. Zvanut and V. V. Konovalov, Appl. Phys. Lett. 80, 410 (2002). 2. N.T. Son, Z. Zolnai, and E. Janzen, Phys. Rev. B64, 2452xx (2003). 3. W.E. Carlos, E.R. Glaser, and B.V. Shanabrook, in Proceedings of the 22nd conference on Defects in Semiconductors, Aarhus, Denmark, July 2003.

  2. Treatment of open tibial fracture with bone defect caused by high velocity missiles: a case report.

    Golubović, Zoran; Vukajinović, Zoran; Stojiljković, Predrag; Golubović, Ivan; Visnjić, Aleksandar; Radovanović, Zoran; Najman, Stevo


    Tibia fracture caused by high velocity missiles is mostly comminuted and followed by bone defect which makes their healing process extremely difficult and prone to numerous complications. A 34-year-old male was wounded at close range by a semi-automatic gun missile. He was wounded in the distal area of the left tibia and suffered a massive defect of the bone and soft tissue. After the primary treatment of the wound, the fracture was stabilized with an external fixator type Mitkovic, with convergent orientation of the pins. The wound in the medial region of the tibia was closed with the secondary stitch, whereas the wound in the lateral area was closed with the skin transplant after Thiersch. Due to massive bone defect in the area of the rifle-missile wound six months after injury, a medical team placed a reconstructive external skeletal fixator type Mitkovic and performed corticotomy in the proximal metaphyseal area of the tibia. By the method of bone transport (distractive osteogenesis), the bone defect of the tibia was replaced. After the fracture healing seven months from the secondary surgery, the fixator was removed and the patient was referred to physical therapy. Surgical treatment of wounds, external fixation, performing necessary debridement, adequate antibiotic treatment and soft and bone tissue reconstruction are essential in achieving good results in patients with the open tibial fracture with bone defect caused by high velocity missiles. Reconstruction of bone defect can be successfully treated by reconstructive external fixator Mitkovic.


    Ananth Bhandary


    Full Text Available AIM: To study the proportion of patients with visual field defects in pituitary adenomas And to study the pattern of visual field defects in pituitary adenomas. MATERIALS AND METHODS: 24 patients diagnosed with a pituitary adenoma underwent complete ophthalmic and Humphrey’s Perimetry 30 – 2 visual field test at Department of ophthalmology, M. S Ramaiah Hospital between November 2011 to May 2013. RESULTS: Among the 24 cases in the study, 3 cases were of pituitary micro adenoma constituting 12.5% and the remaining cases (21 cases were pituitary macro adenoma, constituting 87.5%. Visual acuity of 6/6 – 6/12 were observed in 28 (58.3% out of total 48 eyes. Visual field defects were observed in 19 cases (79%. Bilateral temporal hemianopia was observed in the majority (41% of cases with field defects. One eye blind and contra lateral temporal hemianopia was observed in 20.8%. One eye temporal hemianopia and other eye involvement of 3 quadrants seen in 2 patients (8.4%. 5 patients had no visual field defects. CONCLUSION: Although ophthalmologists have a minor role in primary diagnosis of pituitary adenoma, routine ophthalmologic examination is very important. To detect early visual field defects, automated perimetry should be done as a part routine examination in patients with suspected pituitary adenoma

  4. Hydrogen defects from uv photodissociation of OH- centers in alkali halides

    Morato, Spero Penha; Lüty, Fritz


    A systematic investigation of the uv-light-induced photodissociation of substitutional OH- defects in KCl has been performed in the whole temperature range between 4 and 300 K. The primary and secondary processes and their reaction products (O-, U2, U, and H centers) are well understood and accounted for up to the point when the H center (Cl-2 crowdion) becomes thermally mobile and reactive, leading to an unexplained loss of hydrogen defects. A detailed study of the related local-mode spectra in the infrared identifies this missing hydrogen by a new local-mode absorption band (tested in KCl, KBr, KI, and RbBr). Studies of the formation-kinetics of this new Hx- defect show that it is produced by the reaction of mobile Cl-2 crowdions with H- defects. The same Hx- centers can be produced by low-temperature x irradiation of KCl: H- crystals. From these studies it becomes evident that the Hx- defect is composed from the same electronic and ionic ingredients as the U2 center, thus constituting an alternative stable configuration for this defect with completely different electronic and ionic structure. Among the possible structural models which are discussed, a mixed (H-Cl)- dumbbell model appears to be the most likely one.

  5. Microvascular free flaps in the management of war wounds with tissue defects

    Kozarski Jefta


    Full Text Available Background. War wounds caused by modern infantry weapons or explosive devices are very often associated with the defects of soft and bone tissue. According to their structure, tissue defects can be simple or complex. In accordance with war surgical doctrine, at the Clinic for Plastic Surgery and Burns of the Military Medical Academy, free flaps were used in the treatment of 108 patients with large tissue defects. With the aim of closing war wounds, covering deep structures, or making the preconditions for reconstruction of deep structures, free flaps were applied in primary, delayed, or secondary term. The main criteria for using free flaps were general condition of the wounded, extent, location, and structure of tissue defects. The aim was also to point out the advantages and disadvantages of the application of free flaps in the treatment of war wounds. Methods. One hundred and eleven microvascular free flaps were applied, both simple and complex, for closing the war wounds with extensive tissue defects. The main criteria for the application of free flaps were: general condition of the wounded, size, localization, and structure of tissue defects. For the extensive defects of the tissue, as well as for severely contaminated wounds latissimus dorsi free flaps were used. For tissue defects of distal parts of the lower extremities, scapular free flaps were preferred. While using free tissue transfer for recompensation of bone defects, free vascularized fibular grafts were applied, and in skin and bone defects complex free osteoseptocutaneous fibular, free osteoseptocutaneous radial forearm, and free skin-bone scapular flaps were used. Results. After free flap transfer 16 (14,4% revisions were performed, and after 8 unsuccessful revisions another free flaps were utilized in 3 (37,5% patients, and cross leg flaps in 5 (62,5% patients. Conclusion. The treatment of war wounds with large tissue defects by the application of free microvascular flaps

  6. Rational defect introduction in silicon nanowires.

    Shin, Naechul; Chi, Miaofang; Howe, Jane Y; Filler, Michael A


    The controlled introduction of planar defects, particularly twin boundaries and stacking faults, in group IV nanowires remains challenging despite the prevalence of these structural features in other nanowire systems (e.g., II-VI and III-V). Here we demonstrate how user-programmable changes to precursor pressure and growth temperature can rationally generate both transverse twin boundaries and angled stacking faults during the growth of oriented Si nanowires. We leverage this new capability to demonstrate prototype defect superstructures. These findings yield important insight into the mechanism of defect generation in semiconductor nanowires and suggest new routes to engineer the properties of this ubiquitous semiconductor.

  7. Phenol dissociation on pristine and defective graphene

    Widjaja, Hantarto; Oluwoye, Ibukun; Altarawneh, Mohammednoor; Hamra, A. A. B.; Lim, H. N.; Huang, N. M.; Yin, Chun-Yang; Jiang, Zhong-Tao


    Phenol (C6H5O‒H) dissociation on both pristine and defective graphene sheets in terms of associated enthalpic requirements of the reaction channels was investigated. Here, we considered three common types of defective graphene, namely, Stone-Wales, monovacancy and divacancy configurations. Theoretical results demonstrate that, graphene with monovacancy creates C atoms with dangling bond (unpaired valence electron), which remains particularly useful for spontaneous dissociation of phenol into phenoxy (C6H5O) and hydrogen (H) atom. The reactions studied herein appear barrierless with reaction exothermicity as high as 2.2 eV. Our study offers fundamental insights into another potential application of defective graphene sheets.

  8. Surface defects and instanton partition functions

    Gaiotto, Davide; Kim, Hee-Cheol


    We study the superconformal index of five-dimensional SCFTs and the sphere partition function of four-dimensional gauge theories with eight supercharges in the presence of co-dimension two half-BPS defects. We derive a prescription which is valid for defects which can be given a "vortex construction", i.e. can be defined by RG flow from vortex configurations in a larger theory. We test the prescription against known results and expected dualities. We employ our prescription to develop a general computational strategy for defects defined by coupling the bulk degrees of freedom to a Gauged Linear Sigma Model living in co-dimension two.

  9. Interdisciplinary Management of an Isolated Intrabony Defect

    Sheetal Ghivari


    Full Text Available The treatment of intrabony defects is a real challenge in molar teeth as it is chronic, slowly progressing disease which needs timely intervention. Periodontal inflammation associated with intrabony defect is not a separate entity as it secondarily affects the pulp causing retrograde pulpitis. However, treatment of these lesions will be complicated due to extensive bone loss. The tooth was endodontically treated followed by periodontal surgery to eliminate the deep periodontal pocket and promote bone fill in osseous defect. PepGen P-15 composited with platelet rich plasma was utilized for enhancing bone formation. The combination of these graft materials provides synergistic effect on bone regeneration.

  10. Intelligent Camera for Surface Defect Inspection

    CHENG Wan-sheng; ZHAO Jie; WANG Ke-cheng


    An intelligent camera for surface defect inspection is presented which can pre-process the surface image of a rolled strip and pick defective areas out at a spead of 1600 meters per minute. The camera is made up of a high speed line CCD, a 60Mb/s CCD digitizer with correlated double sampling function, and a field programmable gate array(FPGA), which can quickly distinguish defective areas using a perceptron embedded in FPGA thus the data to be further processed would dramatically be reduced. Some experiments show that the camera can meet high producing speed, and reduce cost and complexity of automation surface inspection systems.

  11. Production defects in marine composite structures

    Hayman, Brian; Berggreen, Christian; Tsouvalis, Nicholas G.


    , and to have a good understanding of the way in which production defects and imperfections influence the structural performance, so that adequate levels of structural safety and reliability can be achieved without having to apply excessively large factors of safety. A review is made of the types of defects...... that arise in the relevant production processes, of their causes and the means that can be used to reduce or eliminate them, and of models that enable the effects of defects and imperfections on structural performance to be predicted....

  12. Defects of organization in rendering medical aid

    Shavkat Islamov


    Full Text Available The defects of organization at the medical institution mean disturbance of rules, norms and order of rendering of medical aid. The number of organization defects in Uzbekistan increased from 20.42%, in 1999 to 25.46% in 2001 with gradual decrease to 19.9% in 2003 and 16.66%, in 2006 and gradual increase to 21.95% and 28.28% (P<0.05 in 2005 and 2008. Among the groups of essential defects of organization there were following: disturbance of transportation rules, lack of dispensary care, shortcomings in keeping medical documentation.

  13. Etiopathogenetic consideration and definition of the clinical manifestation of erosive dental defects

    Stojšin Ivana M.


    Full Text Available Dental defects of erosive nature are defined as irreversible losses of dental tissue, caused by long lasting and repeated action of acids that dissolve top layer of hydroxyapatite and fluorideapatites crystal structure, under assumption that aggressive factor is not of bacterial nature. Acids that cause changes on teeth according to their origin are gastric, dietetic, or they are of environmental origin. Current way of life, as well as nutritional habits create potentially dangerous conditions for the hard dental tissue, for prevention of mineralization process causes defects of oral system homeostasis. Defects occur on primary teeth, as well as on permanent teeth. However, this happens once and a half time more frequently on primary teeth due to the weaker primary maturation. In initial phases, changes are localized in enamel and by their development the bottom locates in dentine. Defects appear as smooth, shiny, round concavities on caries immune positions, or as cupping of occlusal surfaces. The depth of an eroded lesion consists of the depth of the crater plus the depth of tissue demineralization at the base of the lesion. Early verification of the etiological factor, together with good knowledge of the manifested shape change has influence to the prevention of the crown of tooth loss, complete occlusion, mastication and speech.

  14. Prevalence of enamel defects and association with dental caries in preschool children.

    Massignan, C; Ximenes, M; da Silva Pereira, C; Dias, L; Bolan, M; Cardoso, M


    This was to evaluate the prevalence of the developmental defects of enamel (DDE) in primary teeth and its association with dental caries. A cross-sectional study with a randomised representative sample was carried out with 1101 children aged 2-5 years enrolled in public preschools (50% prevalence of DDE in primary teeth, a standard error of 3%, and a confidence level of 95%). Three calibrated dentists (K > 0.62) performed clinical examination. Data collected were: sex, age, DDE (Modified DDE Index) and dental caries (WHO). Descriptive analysis, Chi-square test and multinomial logistic regression were applied for data analysis. Among children, 565 (51.3%) were boys; mean age was 3.7 (±0.9 years). The prevalence of enamel defect was 39.1%; the prevalence of diffuse opacities, demarcated opacities and enamel hypoplasia was 25.3, 19.1 and 6.1%, respectively. The prevalence of dental caries was 31.0%, with mean def-t 1.14 (±2.44). Primary teeth with enamel hypoplasia had three times the odds of having dental caries than those with absence of enamel defects (OR = 3.10; 95% CI: 1.91, 5.01). The presence of enamel defects was moderate and associated with dental caries.

  15. Analysis Strategy for Fracture Assessment of Defects in Ductile Materials

    Dillstroem, Peter; Andersson, Magnus; Sattari-Far, Iradj; Weilin Zang (Inspecta Technology AB, Stockholm (Sweden))


    The main purpose of this work is to investigate the significance of the residual stresses for defects (cracks) in ductile materials with nuclear applications, when the applied primary (mechanical) loads are high. The treatment of weld-induced stresses as expressed in the SACC/ProSACC handbook and other fracture assessment procedures such as the ASME XI code and the R6-method is believed to be conservative for ductile materials. This is because of the general approach not to account for the improved fracture resistance caused by ductile tearing. Furthermore, there is experimental evidence that the contribution of residual stresses to fracture diminishes as the degree of yielding increases to a high level. However, neglecting weld-induced stresses in general, though, is doubtful for loads that are mostly secondary (e.g. thermal shocks) and for materials which are not ductile enough to be limit load controlled. Both thin-walled and thick-walled pipes containing surface cracks are studied here. This is done by calculating the relative contribution from the weld residual stresses to CTOD and the J-integral. Both circumferential and axial cracks are analysed. Three different crack geometries are studied here by using the finite element method (FEM). (i) 2D axisymmetric modelling of a V-joint weld in a thin-walled pipe. (ii) 2D axisymmetric modelling of a V-joint weld in a thick-walled pipe. (iii) 3D modelling of a X-joint weld in a thick-walled pipe. t. Each crack configuration is analysed for two load cases; (1) Only primary (mechanical) loading is applied to the model, (2) Both secondary stresses and primary loading are applied to the model. Also presented in this report are some published experimental investigations conducted on cracked components of ductile materials subjected to both primary and secondary stresses. Based on the outcome of this study, an analysis strategy for fracture assessment of defects in ductile materials of nuclear components is proposed. A new

  16. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence

    Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels


    Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac...... defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge...... in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Case presentation: Our first case was a white girl...

  17. Defect chemistry and defect engineering of TiO2-based semiconductors for solar energy conversion.

    Nowotny, Janusz; Alim, Mohammad Abdul; Bak, Tadeusz; Idris, Mohammad Asri; Ionescu, Mihail; Prince, Kathryn; Sahdan, Mohd Zainizan; Sopian, Kamaruzzaman; Mat Teridi, Mohd Asri; Sigmund, Wolfgang


    This tutorial review considers defect chemistry of TiO2 and its solid solutions as well as defect-related properties associated with solar-to-chemical energy conversion, such as Fermi level, bandgap, charge transport and surface active sites. Defect disorder is discussed in terms of defect reactions and the related charge compensation. Defect equilibria are used in derivation of defect diagrams showing the effect of oxygen activity and temperature on the concentration of both ionic and electronic defects. These defect diagrams may be used for imposition of desired semiconducting properties that are needed to maximize the performance of TiO2-based photoelectrodes for the generation of solar hydrogen fuel using photo electrochemical cells (PECs) and photocatalysts for water purification. The performance of the TiO2-based semiconductors is considered in terms of the key performance-related properties (KPPs) that are defect related. It is shown that defect engineering may be applied for optimization of the KPPs in order to achieve optimum performance.

  18. Signal to Noise Studies on Thermographic Data with Fabricated Defects for Defense Structures

    Zalameda, Joseph N.; Rajic, Nik; Genest, Marc


    There is a growing international interest in thermal inspection systems for asset life assessment and management of defense platforms. The efficacy of flash thermography is generally enhanced by applying image processing algorithms to the observations of raw temperature. Improving the defect signal to noise ratio (SNR) is of primary interest to reduce false calls and allow for easier interpretation of a thermal inspection image. Several factors affecting defect SNR were studied such as data compression and reconstruction using principal component analysis and time window processing.

  19. Radiographic parameters for prognosis of periodontal healing of infrabony defects: two different definitions of defect depth.

    Eickholz, Peter; Hörr, Torten; Klein, Filip; Hassfeld, Stefan; Kim, Ti-Sun


    The aim of the present study was to evaluate defect width and two different definitions of defect depth as prognostic factors of periodontal healing in infrabony defects treated by regenerative therapy 6 and 24 months after surgery. In 32 patients with moderate to advanced periodontitis, 50 infrabony defects were treated by the guided tissue regeneration (GTR) technique using non-resorbable or bioabsorbable barriers. Clinical parameters were assessed, and 50 triplets of standardized radiographs were taken before surgery and 6 and 24 months after surgery. Using a computer-assisted analysis, the distances cemento-enamel junction (CEJ) to alveolar crest (AC), CEJ to bony defect (BD), horizontal projection of the most coronal extension of the bony wall to the root surface to BD, width, and angle of the bony defects were measured. Depth of the bony defect was 1) calculated as CEJ-BD minus CEJ-AC (INFRA1) and 2) measured as horizontal projection of the most coronal extension of the bony wall to the root surface to BD (INFRA2). Whereas statistically significant vertical clinical attachment level gains (CAL-V: 3.36 +/- 1.59 mm/ 3.41 +/- 1.72 mm; P or = 4 mm) infrabony defects, bony fill was more pronounced than in wide and shallow defects (P < 0.001). Improvement achieved by GTR in infrabony defects can be maintained up to 24 months after surgery. Narrow and deep infrabony defects respond radiographically and are to some extent clinically more favorable to GTR therapy than are wide and shallow defects. The infrabony component of bony defects, as determined by the distance from the most coronal extension of the lateral bony wall to BD (INFRA2), is a better predictor of bony fill than that determined by AC-BD (INFRA1).

  20. Hypomineralized Second Primary Molars as Predictor of Molar Incisor Hypomineralization

    Negre-Barber, A.; Montiel-Company, J. M.; Boronat-Catalá, M.; M. Catalá-Pizarro; Almerich-Silla, J. M.


    Molar incisor hypomineralization (MIH) is a developmental defect of dental enamel that shares features with hypomineralized second primary molars (HSPM). Prior to permanent tooth eruption, second primary molars could have predictive value for permanent molar and incisor hypomineralization. To assess this possible relationship, a cross-sectional study was conducted in a sample of 414 children aged 8 and 9 years from the INMA cohort in Valencia (Spain). A calibrated examiner (linear-weighted Ka...

  1. ILT based defect simulation of inspection images accurately predicts mask defect printability on wafer

    Deep, Prakash; Paninjath, Sankaranarayanan; Pereira, Mark; Buck, Peter


    At advanced technology nodes mask complexity has been increased because of large-scale use of resolution enhancement technologies (RET) which includes Optical Proximity Correction (OPC), Inverse Lithography Technology (ILT) and Source Mask Optimization (SMO). The number of defects detected during inspection of such mask increased drastically and differentiation of critical and non-critical defects are more challenging, complex and time consuming. Because of significant defectivity of EUVL masks and non-availability of actinic inspection, it is important and also challenging to predict the criticality of defects for printability on wafer. This is one of the significant barriers for the adoption of EUVL for semiconductor manufacturing. Techniques to decide criticality of defects from images captured using non actinic inspection images is desired till actinic inspection is not available. High resolution inspection of photomask images detects many defects which are used for process and mask qualification. Repairing all defects is not practical and probably not required, however it's imperative to know which defects are severe enough to impact wafer before repair. Additionally, wafer printability check is always desired after repairing a defect. AIMSTM review is the industry standard for this, however doing AIMSTM review for all defects is expensive and very time consuming. Fast, accurate and an economical mechanism is desired which can predict defect printability on wafer accurately and quickly from images captured using high resolution inspection machine. Predicting defect printability from such images is challenging due to the fact that the high resolution images do not correlate with actual mask contours. The challenge is increased due to use of different optical condition during inspection other than actual scanner condition, and defects found in such images do not have correlation with actual impact on wafer. Our automated defect simulation tool predicts

  2. Subcascade formation and defect cluster size scaling in high-energy collision events in metals

    De Backer, A.; Sand, A. E.; Nordlund, K.; Luneville, L.; Simeone, D.; Dudarev, S. L.


    It has been recently established that the size of the defects created under ion irradiation follows a scaling law (Sand A. E. et al., EPL, 103 (2013) 46003; Yi X. et al., EPL, 110 (2015) 36001). A critical constraint associated with its application to phenomena occurring over a broad range of irradiation conditions is the limitation on the energy of incident particles. Incident neutrons or ions, with energies exceeding a certain energy threshold, produce a complex hierarchy of collision subcascade events, which impedes the use of the defect cluster size scaling law derived for an individual low-energy cascade. By analyzing the statistics of subcascade sizes and energies, we show that defect clustering above threshold energies can be described by a product of two scaling laws, one for the sizes of subcascades and the other for the sizes of defect clusters formed in subcascades. The statistics of subcascade sizes exhibits a transition at a threshold energy, where the subcascade morphology changes from a single domain below the energy threshold, to several or many sub-domains above the threshold. The number of sub-domains then increases in proportion to the primary knock-on atom energy. The model has been validated against direct molecular-dynamics simulations and applied to W, Fe, Be, Zr and sixteen other metals, enabling the prediction of full statistics of defect cluster sizes with no limitation on the energy of cascade events. We find that populations of defect clusters produced by the fragmented high-energy cascades are dominated by individual Frenkel pairs and relatively small defect clusters, whereas the lower-energy non-fragmented cascades produce a greater proportion of large defect clusters.

  3. Dental enamel defects, caries experience and oral health-related quality of life: a cohort study.

    Arrow, P


    The impact of enamel defects of the first permanent molars on caries experience and child oral health-related quality of life was evaluated in a cohort study. Children who participated in a study of enamel defects of the first permanent molars 8 years earlier were invited for a follow-up assessment. Consenting children completed the Child Perception Questionnaire and the faces Modified Child Dental Anxiety Scale, and were examined by two calibrated examiners. ANOVA, Kruskal-Wallis, negative binomial and logistic regression were used for data analyses. One hundred and eleven children returned a completed questionnaire and 91 were clinically examined. Negative binomial regression found that oral health impacts were associated with gender (boys, risk ratio (RR) = 0.73, P = 0.03) and decayed, missing or filled permanent teeth (DMFT) (RR = 1.1, P = 0.04). The mean DMFT of children were sound (0.9, standard deviation (SD) = 1.4), diffuse defects (0.8, SD = 1.7), demarcated defects (1.5, SD = 1.4) and pit defects (1.3, SD = 2.3) (Kruskal-Wallis, P = 0.05). Logistic regression of first permanent molar caries found higher odds of caries experience with baseline primary tooth caries experience (odds ratio (OR) = 1.5, P = 0.01), the number of teeth affected by enamel defects (OR = 1.9, P = 0.05) and lower odds with the presence of diffuse enamel defects (OR = 0.1, P = 0.04). The presence of diffuse enamel defects was associated with lower odds of caries experience. © 2016 Australian Dental Association.

  4. Model Tests of Pile Defect Detection


    The pile, as an important foundation style, is being used in engineering practice. Defects of different types and damages of different degrees easily occur during the process of pile construction. So,dietecting defects of the pile is very important. As so far, there are some difficult problems in pile defect detection. Based on stress wave theory, some of these typical difficult problems were studied through model tests. The analyses of the test results are carried out and some significant results of the low-strain method are obtained, when a pile has a gradually-decreasing crosssection part, the amplitude of the reflective signal originating from the defect is dependent on the decreasing value of the rate of crosssection β. No apparent signal reflected from the necking appeares on the velocity response curve when the value of β is less than about 3.5 %.

  5. Microcephaly and Other Birth Defects: Zika

    ... ol Português Recommend on Facebook Tweet Share Compartir Zika and Microcephaly Microcephaly is a birth defect in ... pregnancy or has stopped growing after birth. Congenital Zika Syndrome Congenital Zika syndrome is a pattern of ...

  6. Oral telangiectatic granuloma with an intrabony defect

    Rathore, Akanksha; Jadhav, Tanya; Kulloli, Anita; Singh, Archana


    Oral telangiectatic granuloma is a benign hyperplastic lesion occurring in response to trauma or chronic irritation in the oral cavity. The characteristic histological appearance comprises of typical granulation tissue with a proliferation of small thin-walled blood vessels in the loose connective tissue. We describe a case of a 36-year-old female who had a swelling in the left maxillary region which was associated with the intrabony defect. An internal bevel gingivectomy was performed, and the histopathological report was suggestive of telangiectatic granuloma. The intrabony defect was managed with the placement of platelet rich fibrin plug in the defect. A follow-up at 6 months showed no recurrence and no loss in the width of keratinized tissue. The aim of this case is to highlight the rare association of intrabony defect with telangiectatic granuloma and the need for histopathological diagnosis in such lesions. PMID:26941527

  7. Oral telangiectatic granuloma with an intrabony defect

    Akanksha Rathore


    Full Text Available Oral telangiectatic granuloma is a benign hyperplastic lesion occurring in response to trauma or chronic irritation in the oral cavity. The characteristic histological appearance comprises of typical granulation tissue with a proliferation of small thin-walled blood vessels in the loose connective tissue. We describe a case of a 36-year-old female who had a swelling in the left maxillary region which was associated with the intrabony defect. An internal bevel gingivectomy was performed, and the histopathological report was suggestive of telangiectatic granuloma. The intrabony defect was managed with the placement of platelet rich fibrin plug in the defect. A follow-up at 6 months showed no recurrence and no loss in the width of keratinized tissue. The aim of this case is to highlight the rare association of intrabony defect with telangiectatic granuloma and the need for histopathological diagnosis in such lesions.

  8. Infrared Computations of Defect Schur Indices

    Cordova, Clay; Shao, Shu-Heng


    We conjecture a formula for the Schur index of N=2 four-dimensional theories in the presence of boundary conditions and/or line defects, in terms of the low-energy effective Seiberg-Witten description of the system together with massive BPS excitations. We test our proposal in a variety of examples for SU(2) gauge theories, either conformal or asymptotically free. We use the conjecture to compute these defect-enriched Schur indices for theories which lack a Lagrangian description, such as Argyres-Douglas theories. We demonstrate in various examples that line defect indices can be expressed as sums of characters of the associated two-dimensional chiral algebra and that for Argyres-Douglas theories the line defect OPE reduces in the index to the Verlinde algebra.

  9. Living with a Congenital Heart Defect

    ... to the dentist also can help prevent IE. Birth Control and Pregnancy Women who have heart defects should ... with their doctors about the safest type of birth control for them. Many of these women can safely ...

  10. Observing Dissipative Topological Defects with Coupled Lasers

    Pal, Vishwa; Tradonsky, Chene; Chriki, Ronen; Friesem, Asher A.; Davidson, Nir


    Topological defects have been observed and studied in a wide range of systems, such as cosmology, spin systems, cold atoms, and optics, as they are quenched across a phase transition into an ordered state. These defects limit the coherence of the system and its ability to approach a fully ordered state, so revealing their origin and control is becoming an increasingly important field of research. We observe dissipative topological defects in a one-dimensional ring of phased-locked lasers, and show how their formation is related to the Kibble-Zurek mechanism and is governed in a universal manner by two competing time scales. The ratio between these two time scales depends on the system parameters, and thus offers the possibility of enabling the system to dissipate to a fully ordered, defect-free state that can be exploited for solving hard computational problems in various fields.

  11. Dental Enamel Defects and Celiac Disease

    ... Follow Us Home Health Information Digestive Diseases Dental Enamel Defects and Celiac Disease Related Topics Section Navigation Digestive Diseases Abdominal Adhesions Acid Reflux (GER & GERD) in Adults Definition & Facts ...

  12. International conference on defects in insulating crystals


    Short summaries of conference papers are presented. Some of the conference topics included transport properties, defect levels, superionic conductors, radiation effects, John-Teller effect, electron-lattice interactions, and relaxed excited states. (SDF)

  13. Thermodynamics of Cosmic Defect Network Evolution

    Avelino, P P


    We show that simple thermodynamic conditions determine, to a great extent, the equation of state and dynamics of cosmic defects of arbitrary dimensionality. We use these conditions to provide a more direct derivation of the Velocity-dependent One-Scale (VOS) model for the macroscopic dynamics of topological defects of arbitrary dimensionality in a $N+1$-dimensional homogeneous and isotropic universe. We parameterize the modifications to the VOS model associated to the interaction of the topological defects with other fields, including, in particular, a new dynamical degree of freedom associated to the variation of the mass per unit $p$-area of the defects, and compute the corresponding scaling solutions. The observational impact of this new dynamical degree of freedom is also briefly discussed.

  14. Di-interstitial defect in silicon revisited

    Londos, C. A.; Antonaras, G. [Solid State Section, Physics Department, University of Athens, Panepistimiopolis, Zografos, 157 84 Athens (Greece); Chroneos, A. [Engineering and Innovation, The Open University, Milton Keynes MK7 6AA (United Kingdom); Department of Materials, Imperial College London, London SW7 2BP (United Kingdom)


    Infrared spectroscopy was used to study the defect spectrum of Cz-Si samples following fast neutron irradiation. We mainly focus on the band at 533 cm{sup −1}, which disappears from the spectra at ∼170 °C, exhibiting similar thermal stability with the Si-P6 electron paramagnetic resonance (EPR) spectrum previously correlated with the di-interstitial defect. The suggested structural model of this defect comprises of two self-interstitial atoms located symmetrically around a lattice site Si atom. The band anneals out following a first-order kinetics with an activation energy of 0.88 ± 0.3 eV. This value does not deviate considerably from previously quoted experimental and theoretical values for the di-interstitial defect. The present results indicate that the 533 cm{sup −1} IR band originates from the same structure as that of the Si-P6 EPR spectrum.

  15. Color Vision Defects: What Teachers Should Know.

    Lewis, Barbara A.; And Others


    Discusses the nature of color vision defects as they relate to reading instruction. Suggests ways that teachers can adapt instruction to help provide maximal learning opportunities for the color deficient child. (RS)

  16. Controlling defectiveness in a complex product

    Harris, C.L.


    A common practice when measuring defectiveness in a complicated product is to assign ''demerit'' points to each defect in proportion to the seriousness of the fault. A plan is presented for monitoring defectives by using a modified demerit per unit control chart. The statistics presented are basic to control charts for demerits. What is different is the chart format which has the advantage of minimum effort for daily updates and independence from required sample sizes. Basically, the charts were designed for simplicity of use where product quantities are not large. Emphasis is placed on maintaining perspective between plotting data and completing the circle of defect reporting, analysis and corrective action feedback.

  17. Genetic Counseling for Congenital Heart Defects

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  18. Intrinsic defects in 3D printed materials

    Bolton, Christopher; Dagastine, Raymond


    We discuss the impact of bulk structural defects on the coherence, phase and polarisation of light passing through transparent 3D printed materials fabricated using a variety of commercial print technologies.

  19. Focal skin defect, limb anomalies and microphthalmia.

    Jackson, K.E.; Andersson, H.C.


    We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

  20. Pulmonary complications of abdominal wall defects.

    Panitch, Howard B


    The abdominal wall is an integral component of the chest wall. Defects in the ventral abdominal wall alter respiratory mechanics and can impair diaphragm function. Congenital abdominal wall defects also are associated with abnormalities in lung growth and development that lead to pulmonary hypoplasia, pulmonary hypertension, and alterations in thoracic cage formation. Although infants with ventral abdominal wall defects can experience life-threatening pulmonary complications, older children typically experience a more benign respiratory course. Studies of lung and chest wall function in older children and adolescents with congenital abdominal wall defects are few; such investigations could provide strategies for improved respiratory performance, avoidance of respiratory morbidity, and enhanced exercise ability for these children.

  1. Congenital Heart Defects and Physical Activity

    ... Thromboembolism Aortic Aneurysm More Congenital Heart Defects and Physical Activity Updated:Apr 19,2016 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...

  2. Holographic entanglement entropy of surface defects

    Gentle, Simon A.; Gutperle, Michael; Marasinou, Chrysostomos


    We calculate the holographic entanglement entropy in type IIB supergravity solutions that are dual to half-BPS disorder-type surface defects in N=4 supersymmetric Yang-Mills theory. The entanglement entropy is calculated for a ball-shaped region bisected by a surface defect. Using the bubbling supergravity solutions we also compute the expectation value of the defect operator. Combining our result with the previously-calculated one-point function of the stress tensor in the presence of the defect, we adapt the calculation of Lewkowycz and Maldacena [1] to obtain a second expression for the entanglement entropy. Our two expressions agree up to an additional term, whose possible origin and significance is discussed.

  3. Holographic entanglement entropy of surface defects

    Gentle, Simon A; Marasinou, Chrysostomos


    We calculate the holographic entanglement entropy in type IIB supergravity solutions that are dual to half-BPS disorder-type surface defects in ${\\cal N}=4$ Super Yang-Mills theory. The entanglement entropy is calculated for a ball-shaped region bisected by a surface defect. Using the bubbling supergravity solutions we also compute the expectation value of the defect operator. Combining our result with the previously-calculated one-point function of the stress tensor in the presence of the defect, we adapt the calculation of Lewkowycz and Maldacena to obtain a second expression for the entanglement entropy. Our two expressions agree up to an additional term, whose possible origin and significance is discussed

  4. Reconstrução da parede torácica nos defeitos adquiridos Chest wall reconstruction in acquired defects

    Marcus Vinicius H. de Carvalho


    Full Text Available Acquired chest wall defects present a challenging problem for thoracic surgeons. Many of such defects can be repaired with the use of local and regional musculocutaneous flaps, but larger defects compromising skeletal structure require increasingly sophisticated reconstructive techniques. The following discussion will review the options for repair acquired chest wall defects based in literature. The authors searched the Pubmed ( and found citations from January 1996 to February 2008. By reading the titles and the abstracts most of the citations were discharged because they focused in congenital chest wall defects or were cases report. However, many papers were found describing the outcome of large series of patients with acquired chest wall deformities. A review of recent literature shows that the repair of chest wall defects with soft tissues, if possible, remains the treatment of choice. Large chest wall defects require skeletal reconstruction to prevent paradoxical respiration. The selection of the most appropriate flap is primary dictated by the location and the size of the defect. It is important to transfer tissue with good vitality, so understanding the vascular supply is imperative. Autogenous grafts have been used in the past for skeletal reconstruction but a combination of synthetic materials with musculocutaneous flaps has been used lately. Based in the literature, the use of prosthetic material in chest wall reconstruction does not significantly increases the risk of wound infection.

  5. [Unawareness for homonymous visual field defect].

    Ito, Tomoko; Hirayama, Kazumi; Yamawaki, Rie; Kondo, Yumiko; Sakai, Shinya; Kondo, Takeo; Yamadori, Atsushi


    There was no report which dealt with the relationship between emotional state, degree of defective visual search, severity of hemianopic dyslexia, the episode when the patient became aware of the defect, and unawareness of visual loss in homonymous hemifield. To investigate the relationship between degree of awareness and those factors that might be responsible for the unawareness, including the aspects listed above. Four patients with visual field defects caused by a brain lesion after a stroke was investigated. Self rating of emotional state, search performance for an object among many placed on a table, and for text reading, as well as visual field, visual positive phenomena, and hemispatial neglect were evaluated. Degree of unawareness for field loss was evaluated by modified version of the method of Bisiach et al. (1985). In addition, the episodes when the patient became aware of the defect were asked. In accordance with the previous studies, we found no relationship between the degree of awareness of field defect and anatomic lesions, co-existence of hemispatial neglect, or the degree of awareness of hemiplegia. However, the patient with neglect was unaware of their troubles in vision at all, whereas the patients without neglect were aware of the troubles but misinterpreted them as problems of the eyes including acuity. In accordance with previous studies, co-existence of visual hallucinations or illusions seemed to be associated with awareness of visual field defect. No relationship was found between the degree of awareness of field defect and emotional state, degree of field loss, degree of defective visual search, or severity of hemianopic dyslexia. Their responses to the inquiry about the degree of awareness of field defect were not consistent. Thus, the awareness of the field defect seemed to be difficult to be kept firmly in their mind. On the other hand, the patients could remember the episode when they became aware of the defect for the first time

  6. Radioactive fallout and neural tube defects

    Nejat Akar


    Full Text Available Possible link between radioactivity and the occurrence of neural tube defects is a long lasting debate since the Chernobyl nuclear fallout in 1986. A recent report on the incidence of neural defects in the west coast of USA, following Fukushima disaster, brought another evidence for effect of radioactive fallout on the occurrence of NTD’s. Here a literature review was performed focusing on this special subject.

  7. Reflection and transmission of conformal perturbation defects

    Brunner, Ilka


    We consider reflection and transmission of interfaces which implement renormalisation group flows between conformal fixed points in two dimensions. Such an RG interface is constructed from the identity defect in the ultraviolet CFT by perturbing the theory on one side of the defect line. We compute reflection and transmission coefficients in perturbation theory to third order in the coupling constant and check our calculations against exact constructions of RG interfaces between coset models.

  8. Corrosion of surface defects in fine wires.

    Rentler, R M; Greene, N D


    Defects were observed on the surfaces of various fine diameter wires commonly used in biomedical applications. These surface irregularities were viewed at high magnifications using a scanning electron microscope which has a much greater depth of field than normal light microscopy. Defects include scratches, pits, and crevices, which are the result of commercial wire drawing practices. Corrosion test results show that imperfections can serve as sites for localized corrosion attack which could lead to premature failures.

  9. Topological Defects in Liquid Crystal Films

    DUAN Yi-Shi; ZHAO Li; ZHANG Xin-Hui; SI Tie-Yan


    A topological theory of liquid crystal films in the presence of defects is developed based on the φ-mapping topological current theory. By generalizing the free-energy density in "one-constant" approximation, a covariant freeenergy density is obtained, from which the U(1) gauge field and the unified topological current for monopoles and strings in liquid crystals are derived. The inner topological structure of these topological defects is characterized by the winding numbers of φ-mapping.

  10. [SOX2 defect and anophthalmia and microphthalmia].

    Ye, Fu-xiang; Fan, Xian-qun


    As a severe congenital developmental disorder, anophthalmia and microphthalmia are usually accompanied with vision impairment and hypoevolutism of the orbit in the affected side. Many genes are involved in anophthalmia and microphthalmia, in which, SOX2 is an important one. The defect of SOX2 causes multiple system disorders, including anophthalmia and microphthalmia. We describe the relationship between the SOX2 defect and anophthalmia/microphthalmia, in order to offer some proposals for the differential diagnosis, treatment and research of anophthalmia and microphthalmia.

  11. EUV actinic defect inspection and defect printability at the sub-32 nm half pitch

    Huh, Sungmin; Kearney, Patrick; Wurm, Stefan; Goodwin, Frank; Han, Hakseung; Goldberg, Kenneth; Mochi, Iacopp; Gullikson, Eric M.


    Extreme ultraviolet (EUV) mask blanks with embedded phase defects were inspected with a reticle actinic inspection tool (AIT) and the Lasertec M7360. The Lasertec M7360, operated at SEMA TECH's Mask Blank Development Center (MBDC) in Albany, NY, has a sensitivity to multilayer defects down to 40-45 nm, which is not likely sufficient for mask blank development below the 32 nm half-pitch node. Phase defect printability was simulated to calculate the required defect sensitivity for a next generation blank inspection tool to support reticle development for the sub-32 nm half-pitch technology node. Defect mitigation technology is proposed to take advantage of mask blanks with some defects. This technology will reduce the cost of ownership of EUV mask blanks. This paper will also discuss the kind of infrastructure that will be required for the development and mass production stages.

  12. Highly birefringent extruded elliptical-hole photonic crystal fibers with single defect and double defects

    Zhongjiao He


    Highly birefringent elliptical-hole photonic crystal fibers(PCFs)with single defect and double defects are proposed,which are suppoosed to be achieved by extruding normal circular-hole PCFs based on a triangular lattice photonic crystal structure.Comparative research on the birefringence and the confinement loss of the proposed PCFs with single defect and double defects is presented.Simulation results show that the proposed PCFs with single defect and double defects can be with high birefringence(even up to the order of 10-2).The confinement loss increases when the ellipticity of the air hole of the PCFs increases,which nevertheless can be overconle by increasing the ring number or the area of the air holes in the fiber cladding.

  13. Primary congenital glaucoma associated with Patau syndrome with long survival.

    Jaru-Ampornpan, Pimkwan; Kuchtey, John; Dev, V G; Kuchtey, Rachel


    Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13.

  14. Complement defects in patients with chronic rhinosinusitis.

    Maria Q Gaunsbaek

    Full Text Available The complement system is an important part of our immune system, and complement defects lead generally to increased susceptibility to infections and autoimmune diseases. We have studied the role of complement activity in relation with chronic rhinosinusitis (CRS, and more specifically studied whether complement defects collectively predispose individuals for CRS or affect CRS severity. The participants comprised 87 CRS patients randomly selected from the general population, and a control group of 150 healthy blood donors. The CRS patients were diagnosed according to the European Position Paper on Rhinosinusitis and nasal Polyps criteria, and severity was evaluated by the Sino-nasal Outcome Test-22. Serum samples were analysed by ELISA for activity of the respective pathways of complement, and subsequently for serum levels of relevant components. We found that the frequency of complement defects was significantly higher among CRS patients than among healthy control subjects. A majority of Mannan-binding lectin deficient CRS patients was observed. The presence of complement defects had no influence on the severity of subjective symptoms. Our studies show that defects in the complement system collectively may play an immunological role related to the development of CRS. However, an association between severity of symptoms and presence of complement defects could not be demonstrated.

  15. Positron annihilation spectroscopy in defects of semiconductors

    Fujinami, M


    Interaction of positron and defects, application to research of defects of semiconductor and defects on the surface of semiconductor are explained. Cz (Czochralski)-Si single crystal with 10 sup 1 sup 8 cm sup - sup 3 impurity oxygen was introduced defects by electron irradiation and the positron lifetime was measured at 90K after annealing. The defect size and recovery temperature were determined by the lifetime measurement. The distribution of defects in the depth direction is shown by S-E curve. The chemical state analysis is possible by CBS (Coincidence Doppler Broadening) spectra. The application to silicon-implanted (100 keV, 2x10 sup 1 sup 5 cm sup - sup 2) silicon and oxygen-implanted (180 keV, 2x10 sup 1 sup 5 cm sup - sup 2) silicon are stated. On the oxygen-implanted silicon, the main product was V2 after implantation, V sub 6 O sub 2 at 600degC and V sub 1 sub 0 O sub 6 at 800degC. (S.Y.)

  16. Computational defect review for actinic mask inspections

    Morgan, Paul; Rost, Daniel; Price, Daniel; Corcoran, Noel; Satake, Masaki; Hu, Peter; Peng, Danping; Yonenaga, Dean; Tolani, Vikram


    As optical lithography continues to extend into low-k1 regime, resolution of mask patterns continues to diminish. The limitation of 1.35 NA posed by water-based lithography has led to the application of various resolution enhancement techniques (RET), for example, use of strong phase-shifting masks, aggressive OPC and sub-resolution assist features, customized illuminators, etc. The adoption of these RET techniques combined with the requirements to detect even smaller defects on masks due to increasing MEEF, poses considerable challenges for a mask inspection engineer. Inspecting masks under their actinic-aerial image conditions would detect defects that are more likely to print under those exposure conditions. However, this also makes reviewing such defects in their low-contrast aerial images very challenging. On the other hand, inspecting masks under higher resolution inspection optics would allow for better viewing of defects post-inspection. However, such inspections generally would also detect many more defects, including printable and nuisance, thereby making it difficult to judge which are of real concern for printability on wafer. Often, an inspection engineer may choose to use Aerial and/or high resolution inspection modes depending on where in the process flow the mask is and the specific device-layer characteristics of the mask. Hence, a comprehensive approach is needed in handling defects both post-aerial and post-high resolution inspections. This analysis system is designed for the Applied Materials Aera™ mask inspection platform, all data reported was collected using the Aera.

  17. Reduction in Defect Content of ODS Alloys

    Ritherdon, J


    The work detailed within this report is a continuation of earlier work carried out under contract number 1DX-SY382V. The earlier work comprises a literature review of the sources and types of defects found principally in Fe-based ODS alloys as well as experimental work designed to identify defects in the prototype ODS-Fe{sub 3}Al alloy, deduce their origins and to recommend methods of defect reduction. The present work is an extension of the experimental work already reported and concentrates on means of reduction of defects already identified rather than the search for new defect types. This report also includes results gathered during powder separation trials, conducted by the University of Groningen, Netherlands and coordinated by the University of Liverpool, involving the separation of different metallic powders in terms of their differing densities. The scope and objectives of the present work were laid out in the technical proposal ''Reduction in Defect Content in ODS Alloys-III''. All the work proposed in the ''Statement of Work'' section of the technical proposal has been carried out and all work extra to the ''Statement of Work'' falls within the context of an ODS-Fe{sub 3}Al alloy of improved overall quality and potential creep performance in the consolidated form. The outturn of the experimental work performed is reported in the following sections.

  18. Defect Tolerant Semiconductors for Solar Energy Conversion.

    Zakutayev, Andriy; Caskey, Christopher M; Fioretti, Angela N; Ginley, David S; Vidal, Julien; Stevanovic, Vladan; Tea, Eric; Lany, Stephan


    Defect tolerance is the tendency of a semiconductor to keep its properties despite the presence of crystallographic defects. Scientific understanding of the origin of defect tolerance is currently missing. Here we show that semiconductors with antibonding states at the top of the valence band are likely to be tolerant to defects. Theoretical calculations demonstrate that Cu3N with antibonding valence band maximum has shallow intrinsic defects and no surface states, in contrast to GaN with bonding valence band maximum. Experimental measurements indicate shallow native donors and acceptors in Cu3N thin films, leading to 10(16)-10(17) cm(-3) doping with either electrons or holes depending on the growth conditions. The experimentally measured bipolar doping and the solar-matched optical absorption onset (1.4 eV) make Cu3N a promising candidate absorber for photovoltaic and photoelectrochemical solar cells, despite the calculated indirect fundamental band gap (1.0 eV). These conclusions can be extended to other materials with antibonding character of the valence band, defining a class of defect-tolerant semiconductors for solar energy conversion applications.

  19. Prenatal diagnosis of fetal aortopulmonary septal defect with ventricular septal defect by two-dimension echocardiography


    @@ Fetal aortopulmonary septal defect (APSD) is an extremely rare condition, accounting for 0.1%-0.2% of all cardiac defects in live births world wide.1 Hospital mortality is 13% and 33% for simple and complex APSD, respectively.2 This rare cardiac defect refers to a congenital malformation in the development of the arteriosus truncus septum, and is usually associated with a wide variety of other structural cardiac anomalies such as ventricular septal defect (VSD), pulmonary valve stegnosis and so on.3 Prenatal diagnosis of an APSD is possible by echocardiography.

  20. Multiscale simulations of defect dipole-enhanced electromechanical coupling at dilute defect concentrations

    Liu, Shi; Cohen, R. E.


    The role of defects in solids of mixed ionic-covalent bonds such as ferroelectric oxides is complex. Current understanding of defects on ferroelectric properties at the single-defect level remains mostly at the empirical level, and the detailed atomistic mechanisms for many defect-mediated polarization-switching processes have not been convincingly revealed quantum mechanically. We simulate the polarization-electric field (P-E) and strain-electric field (ɛ-E) hysteresis loops for BaTiO3 in the presence of generic defect dipoles with large-scale molecular dynamics and provide a detailed atomistic picture of the defect dipole-enhanced electromechanical coupling. We develop a general first-principles-based atomistic model, enabling a quantitative understanding of the relationship between macroscopic ferroelectric properties and dipolar impurities of different orientations, concentrations, and dipole moments. We find that the collective orientation of dipolar defects relative to the external field is the key microscopic structure feature that strongly affects materials hardening/softening and electromechanical coupling. We show that a small concentration (≈0.1 at. %) of defect dipoles dramatically improves electromechanical responses. This offers the opportunity to improve the performance of inexpensive polycrystalline ferroelectric ceramics through defect dipole engineering for a range of applications including piezoelectric sensors, actuators, and transducers.

  1. A theoretical study of intrinsic point defects and defect clusters in magnesium aluminate spinel.

    Gilbert, C A; Smith, R; Kenny, S D; Murphy, S T; Grimes, R W; Ball, J A


    Point and small cluster defects in magnesium aluminate spinel have been studied from a first principles viewpoint. Typical point defects that occur during collision cascade simulations are cation anti-site defects, which have a small formation energy and are very stable, O and Mg split interstitials and vacancies. Isolated Al interstitials were found to be energetically unfavourable but could occur as part of a split Mg-Al pair or as a three atom-three vacancy Al 'ring' defect, previously observed in collision cascades using empirical potentials. The structure and energetics of the defects were investigated using density functional theory (DFT) and the results compared to simulations using empirical fixed charge potentials. Each point defect was studied in a variety of supercell sizes in order to ensure convergence. It was found that empirical potential simulations significantly overestimate formation energies, but that the type and relative stability of the defects are well predicted by the empirical potentials both for point defects and small defect clusters.

  2. Automated defect review of the wafer bevel with a defect review scanning electron microscope

    McGarvey, Steve; Kanezawa, Masakazu


    One of the few remaining bastions of non-regulated Integrated Circuit defectivity is the wafer bevel. Recent internal Integrated Circuit Manufacturing studies have suggested that the edge bevel may be responsible for as much as a two to three percent yield loss during a defect excursion on the manufacturing line and a one to two percent yield loss during ongoing wafer manufacturing. A new generation of defect inspection equipment has been introduced to the Research and Development, Integrated Circuit, MEM's and Si wafer manufacturing markets that has imparted the ability for the end equipment user to detect defects located on the bevel of the wafer. The inherent weakness of the current batch of wafer bevel inspection equipment is the lack of automatic discrete defect classification data into multiple, significant classification bins and the lack of discrete elemental analysis data. Root cause analysis is based on minimal discrete defect analysis as a surrogate for a statistically valid sampling of defects from the bevel. This paper provides a study of the methods employed with a Hitachi RS-5500EQEQ Defect Review Scanning Electron Microscope (DRSEM) to automatically capture high resolution/high magnification images and collect elemental analysis on a statistically valid sample of the discrete defects that were located by a bevel inspection system.

  3. System for Analyzing Microscopic Defects and Defect Propagation Due to Aging Project

    National Aeronautics and Space Administration — New technology is needed for sensing and characterizing incipient defects, and assessing the effects of aging in aerospace components. Next generation materials,...

  4. Inborn errors of metabolism underlying primary immunodeficiencies.

    Parvaneh, Nima; Quartier, Pierre; Rostami, Parastoo; Casanova, Jean-Laurent; de Lonlay, Pascale


    A number of inborn errors of metabolism (IEM) have been shown to result in predominantly immunologic phenotypes, manifesting in part as inborn errors of immunity. These phenotypes are mostly caused by defects that affect the (i) quality or quantity of essential structural building blocks (e.g., nucleic acids, and amino acids), (ii) cellular energy economy (e.g., glucose metabolism), (iii) post-translational protein modification (e.g., glycosylation) or (iv) mitochondrial function. Presenting as multisystemic defects, they also affect innate or adaptive immunity, or both, and display various types of immune dysregulation. Specific and potentially curative therapies are available for some of these diseases, whereas targeted treatments capable of inducing clinical remission are available for others. We will herein review the pathogenesis, diagnosis, and treatment of primary immunodeficiencies (PIDs) due to underlying metabolic disorders.

  5. The metaphyseal bone defect predicts outcome in reverse shoulder arthroplasty for proximal humerus fracture sequelae.

    Greiner, Stefan; Uschok, Stephan; Herrmann, Sebastian; Gwinner, Clemens; Perka, Carsten; Scheibel, Markus


    Reverse shoulder arthroplasty (RSA) represents an established procedure for treatment of fracture sequelae (FS) after proximal humerus fractures. The present work evaluates which factors are of influence for the clinical outcome. Fifty cases (mean age 69, range 44-89) have been evaluated postoperatively clinically [Constant Score (CS)] and radiographically (mean FU 34; range 24-93 months). The type of primary treatment, the amount of a metaphyseal bone defect, the preoperative status of the rotator cuff, the number of previous operative interventions and the type of FS according to Boileau were analysed whether they are of influence for clinical outcome. The mean CS increased significantly from 16.9 ± 6.7 preoperatively to 54.1 ± 15.7 points postoperatively. The CS of primary conservative treatment was significantly higher in comparison to primary operative treatment. Patients with a metaphyseal bone defect of more than 3 cm had significantly lower CS results. Degenerative changes of the teres minor muscle also had a significant negative influence on clinical results. Score results decreased with increasing number of previous operations. There were no significant difference in between patients classified as Boileau type I and II (category 1) compared to types III and IV (category 2). RSA significantly improved the clinical result. A metaphyseal bone defect and preoperative degeneration of the teres minor showed to be negative prognostic factors. Primary operative treatment and the number of previous operations also negatively influenced the clinical result.

  6. Filling defect artefacts in magnetic resonance urography

    Girish, G.; Chooi, W.K.; Morcos, S.K. [Department of Diagnostic Imaging, Northern General Hospital, Sheffield Teaching Hospitals NHS Trust, S5 7AU, Sheffield (United Kingdom)


    The aim of this study was to determine the prevalence of filling defect artefacts (FDA) in magnetic resonance urography (MRU). Retrospectively, we assessed MRU examinations of 45 patients with neurogenic bladder dysfunction (21 men, 24 women; mean age 35 years, age range 18-71 years). The MRU was performed 30 min after intramuscular injection of 20 mg frusemide using heavily T2-weighted fast-spin-echo techniques [axial, thick coronal slab, coronal maximum intensity projection (MIP) images] with fat saturation. The images were reviewed by two observers to determine the presence of filling defects and dilatation of pelvicalyceal system and ureters. The filling defects were classified into central, eccentric and complete. Clinical course and plain films were reviewed to determine significance of the detected filling defects. True filling defects were observed in 5 patients (11%) and all due to stones seen on the plain radiograph of the abdomen. Filling defects artefacts (FDAs) were seen in 23 patients (51%; 17 pelvicalyceal system, 17 upper third of ureters, 7 mid ureters and 1 distal ureter). No stones were seen on the plain radiograph of these patients and they had a favourable clinical course for over 24 months. The true filling defects were large in size, eccentric in position and seen in more than one sequence of the MRU examination (axial, n=5; slab, n=5; and MIP, n=4). Four (80%) of the patients with true defects and 21 (91%) of those with FDAs had dilatation of the pelvicalyceal system and ureters. The FDAs were small in size, centrally placed (74%) and always seen in axial images, rarely in slab images (2 cases) and not seen in MIP images. Artefactual filling defects can be seen in MRU examinations. The cause of the FDAs is not fully explained and could be secondary to turbulent and fast flow of the urine. Some of the FDAs seen in the calyces could be due to the tips of the papillae. Awareness of such defects obviates misinterpretation and prevents

  7. Modified Whale's tail technique for the management of bone-defect in anterior teeth.

    Kuriakose, Anu; Ambooken, Majo; Jacob, Jayan; John, Priya


    The purpose of this case report is to describe the efficacy of a modified Whale's tail technique to achieve primary closure and thereby aid in regeneration of an interdental osseous defect between maxillary central incisors complicated by an aberrant frenal attachment. A healthy 32-year-old female patient reported with the complaint of spacing between her upper front teeth. Clinical examination revealed an aberrant frenum extending into the interdental papilla in relation to the central incisors. There was a 6 mm periodontal pocket in relation to the mesiopalatal aspect of maxillary left central incisor. Intraoral periapical radiograph showed vertical bone loss in relation to mesial aspect of maxillary left central incisor. A modified Whale's tail flap was employed to access the area. The defect was filled with an alloplastic graft. Six months postoperative review showed complete elimination of the pocket along with radiographic bone fill of the defect.

  8. Reconstruction of facial defects after combat wounding using vascularized pedicled galeal and parietal bony grafts

    Jović Nebojša


    Full Text Available Combat wounds are basically extensive and destructive. Such injuries cause defects of soft and bone structures of the face and neck. During primary surgical management of maxillofacial combat wounds the principle of minimal bone and soft tissue debridement was respected. Definitive reconstruction of the defect was performed after two or three months, when infection was cured and adjacent tissues were restituted. Each combat wound leaves behind fibrous changes in surrounding tissues. Success of the reconstructive procedures is more certain if flaps with its own blood supply are used, either arterial or vascularized grafts from the other parts of body (by microvascular technique. This paper presents our experiences with galeal flap in reconstruction of facial soft tissue defects, as well as galea, together with external table of parietal bone in reconstruction of soft and bony tissues of maxillofacial region in 15 patients.

  9. Experimental Insights into the Origin of Defect-Structured Hibonites Found in Meteorites

    Han. J.; Keller, L. P.; Danielson, L. R.


    Hibonite (CaAl12O19) is a primary, highly refractory phase occurring in many Ca-Al-rich inclusions (CAIs). Previous microstructural studies of hibonite in CAIs and their Wark-Lovering (WL) rims showed the presence of numerous stacking defects in hibonites. These defects are interpreted as the modification of the stacking sequences of spinel and Ca-containing blocks within the ideal hexagonal hibonite structure due to the presence of wider spinel blocks [3], as shown by experimental studies of reaction-sintered compounds in the CaO-Al2O3 system. We performed a series of experiments in the CaO-Al2O3-MgO system in order to provide additional in-sights into the formation processes and conditions of defect-structured hibonites found in meteorites.

  10. Using IRS Products to Recover 7ETM+ Defective Images

    Mobasheri M. Reza


    Full Text Available On May 31st, 2003, Landsat 7 faced an anomaly in the Scan Line Corrector (SLC normal operation. This malfunctioning of SLC caused the individual scan lines alternately overlap each other and consequently produce large gaps at the edges of the image. Regarding the unique specification of ETM+ sensor on board of Landsat-7 satellite such as its spectral bands in the shortwave IR and TIR region and its suitable spatial resolution which is ideal for most of the scientific researches, a technique for the reconstruction of the defected images due to the SLC malfunctioning, was built up. Due to the availability of IRS/1D LISS-III images for our region of interest i.e., southwest of Iran, it was decided to use these images to recover 7ETM+ products. The procedure in reconstructing the defected 7ETM+ images is divided in to two stages. In the first stage, after implementation of some preprocessing to both LISS-III and 7ETM+, a linear regression model between bands 3 and 4 of 7ETM+ and bands 2 and 3 of LISS-III was setup. This model is used to fill up the missing places in 7ETM+ defected image and produced two new images in bands 3 and 4. In the second stage, these two newly reconstructed images of 7ETM+ were used to recover images of 7ETM+ in other spectral bands. At this stage, two methods were introduced, one using linear relationship between band 3 and bands 1 and 2 and in the second method we introduced a planar relationship between bands 3 and 4 with each one of bands 5, 6 and 7. The models are applied to few images and are found to be fairly reliable. The primary and necessary conditions for applying these methods have been explained in detail.

  11. Impaired visual competition in patients with homonymous visual field defects.

    Geuzebroek, A C; van den Berg, A V


    Intense visual training can lead to partial recovery of visual field defects caused by lesions of the primary visual cortex. However, the standard visual detection and discrimination tasks, used to assess this recovery process tend to ignore the complexity of the natural visual environment, where multiple stimuli continuously interact. Visual competition is an essential component for natural search tasks and detecting unexpected events. Our study focused on visual decision-making and to what extent the recovered visual field can compete for attention with the 'intact' visual field. Nine patients with visual field defects who had previously received visual discrimination training, were compared to healthy age-matched controls using a saccade target-selection paradigm, in which participants actively make a saccade towards the brighter of two flashed targets. To further investigate the nature of competition (feed-forward or feedback inhibition), we presented two flashes that reversed their intensity difference during the flash. Both competition between recovered visual field and intact visual field, as well as competition within the intact visual field, were assessed. Healthy controls showed the expected primacy effect; they preferred the initially brighter target. Surprisingly, choice behaviour, even in the patients' supposedly 'intact' visual field, was significantly different from the control group for all but one. In the latter patient, competition was comparable to the controls. All other patients showed a significantly reduced preference to the brighter target, but still showed a small hint of primacy in the reversal conditions. The present results indicate that patients and controls have similar decision-making mechanisms but patients' choices are affected by a strong tendency to guess, even in the intact visual field. This tendency likely reveals slower integration of information, paired with a lower threshold. Current rehabilitation should therefore also

  12. Chapter 27: Approach to primary immunodeficiency.

    Uzzaman, Ashraf; Fuleihan, Ramsay L


    Primary immunodeficiency diseases (PID) are inherited defects of the innate or adaptive arms of the immune system that lead to an increase in the incidence, frequency, or severity of infections. There may be defects in the adaptive arm of the immune system that include combined immunodeficiency and antibody deficiency syndromes or by abnormalities in innate immunity such as disorders of phagocytes, the complement pathway, or Toll-Like receptor (TLR) mediated signaling. Recurrent sinopulmonary infections with encapsulated bacteria such as Haemophilus influenza type B or Streptococcus pneumoniae may be characteristic of an IgG antibody deficiency or dysfunction. Frequent viral, fungal, or protozoal infections may suggest T lymphocyte dysfunction. Multiple staphylococcal skin infections and fungal infections may imply neutrophil dysfunction or the hyper-IgE syndrome, and recurrent neisserial infection is a characteristic manifestation of late complement component (C5-9, or the membrane attack complex) defects. Recurrent viral or pyogenic bacterial infections often without the presence of a significant inflammatory response suggest a defect in TLR signaling. Mycobacterial infections are characteristic of defects in interleukin (IL)-12, interferon (IFN) gamma, or their receptors. Screening of newborns for T-cell lymphopenia using a polymerase chain reaction to amplify T-cell receptor excision circles (TRECs), which are formed when a T cell rearranges the variable region of its receptor, serves as a surrogate for newly synthesized naïve T cells. Because of very low numbers of TRECs, severe combined immunodeficiency, DiGeorge syndrome, and other causes of T-cell lymphopenia have been identified in newborns.

  13. Zero defections: quality comes to services.

    Reichheld, F F; Sasser, W E


    Companies that want to improve their service quality should take a cue from manufacturing and focus on their own kind of scrap heap: customers who won't come back. Because that scrap heap can be every bit as costly as broken parts and misfit components, service company managers should strive to reduce it. They should aim for "zero defections"--keeping every customer they can profitably serve. As companies reduce customer defection rates, amazing things happen to their financials. Although the magnitude of the change varies by company and industry, the pattern holds: profits rise sharply. Reducing the defection rate just 5% generates 85% more profits in one bank's branch system, 50% more in an insurance brokerage, and 30% more in an auto-service chain. And when MBNA America, a Delaware-based credit card company, cut its 10% defection rate in half, profits rose a whopping 125%. But defection rates are not just a measure of service quality; they are also a guide for achieving it. By listening to the reasons why customers defect, managers learn exactly where the company is falling short and where to direct their resources. Staples, the stationery supplies retailer, uses feedback from customers to pinpoint products that are priced too high. That way, the company avoids expensive broad-brush promotions that pitch everything to everyone. Like any important change, managing for zero defections requires training and reinforcement. Great-West Life Assurance Company pays a 50% premium to group health-insurance brokers that hit customer-retention targets, and MBNA America gives bonuses to departments that hit theirs.

  14. Congenital Abdominal Wall Defects: Staged closure by Dual Mesh.

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels


    To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh related complications; and post-discharge gastrointestinal surgery. GDM was placed in 34 (gastroschisis=27, omphalocele=7) patients during the study period. Complete closure of the fascia was obtained in one patient with omphalocele and in 22 patients with gastroschisis. Mesh related surgical complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure-related. Of the 30 children discharged, 28 (82%) were still alive. At follow-up, three patients (10%) were operated for a minor ventral hernia and 4 children were operated (laparotomy and adhesionolysis) for adhesive intestinal obstruction. Staged closure with GDM is a safe alternative when primary fascial closure is difficult.

  15. Use of periosteal membrane as a barrier membrane for the treatment of buccal Grade II furcation defects in lower molars: A novel technique

    Vikas Verma


    Full Text Available Objective : To use the periosteum as a barrier in treatment of buccal Grade II furcation defects of lower molars. Materials and Methods : This technique was performed on 12 patients with bilateral buccal Grade II furcation defects of lower molars. On a random basis, one furcation defect of each pair was selected for the control group and other for the experimental group. Debridement was done in the defect area in both groups. In the control group, after debridement, mucoperiosteal flap was sutured back. In the experimental group, after reflection of the mucoperiosteal flap, a portion of the periosteum along with a layer of connective tissue (periosteal membrane was incised and mobilized in the defect area for defect coverage as a barrier, and then the periosteal membrane and mucoperiosteal flap were fixed with suture, respectively. Horizontal dimension of the furcation defect was the primary outcome measure. Gingival index, probing attachment level (PAL, and vertical dimension of furcation defect were the secondary outcome measures. Clinical parameters were registered at baseline and at 6 months. Results : Every clinical parameter was improved by surgery. Significant gain in PAL as well as horizontal and vertical dimensions of the furcation defects was found. Conclusion: This periosteum displacement technique is effective for the treatment of buccal Grade II furcation defects of lower molars.

  16. Case Series Study of Visual Field Defects in Pituitary Gland Tumors

    Vallabha K


    Full Text Available Background: The pituitary gland is a small endocrine gland, weighing about 500 mg. Pituitary adenomas account for 12-15 % of all intracranial tumors. Pituitary gland is in the sella turcica, 8-13 mm lower than the optic chiasm. Therefore, when it increases, it can easily compress the optic nerve fibers in the chiasm. Micro adenomas can have a negligible effect on the visual system or on the function impairment when pituitary adenoma compresses the frontal part of optic nerve; impairments in visual fields, visual acuity, and color contrast sensitivity are possible. The long standing compression of the chiasm induces primary optic nerve atrophy, which directly impairs visual function. The prevalence of visual field defects in pituitary adenomas varies from 37 to 96% in different studies. Because of its anatomical relationship with optic chiasm, pituitary adenoma typically results in bitemporal hemianopia. However, according to the tumor size and optic chiasmal position, a variety of field defects can be produced by pituitary adenoma and the tumor size is a significant factor in the severity of Visual field defects. Aim: To study the proportion of patients with visual field defects in pituitary adenomas and to study the pattern of visual field defects in pituitary adenomas. Materials and Methods: 7 patients diagnosed with a pituitary adenoma underwent complete ophthalmic and Humphrey’s Perimetry 30-2 visual field test at Department of Ophthalmology, BLDEU’S Shri B M Patil Medical College Hospital, Vijayapura between January 2015 to December 2015. Results: Among the 7 cases in the study, 2 cases were of pituitary micro adenoma constituting 28.5% and the remaining cases (5 cases were pituitary macro adenoma, constituting 71.5%. Visual acuity of 6/6 - 6/12 were observed in 10 (71.4% out of total 14 eyes. Visual field defects were observed in all 6 cases (85.7%. Bilateral temporal hemianopia was observed in the majority (42.8% of cases with field

  17. Protein defects in neuromuscular diseases

    Vainzof M.


    Full Text Available Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is highly variable, ranging from severe congenital forms with rapid progression to milder forms with later onset and a slower course. In recent years, several proteins from the sarcolemmal muscle membrane (dystrophin, sarcoglycans, dysferlin, caveolin-3, from the extracellular matrix (alpha2-laminin, collagen VI, from the sarcomere (telethonin, myotilin, titin, nebulin, from the muscle cytosol (calpain 3, TRIM32, from the nucleus (emerin, lamin A/C, survival motor neuron protein, and from the glycosylation pathway (fukutin, fukutin-related protein have been identified. Mutations in their respective genes are responsible for different forms of neuromuscular diseases. Protein analysis using Western blotting or immunohistochemistry with specific antibodies is of the utmost importance for the differential diagnosis and elucidation of the physiopathology of each genetic disorder involved. Recent molecular studies have shown clinical inter- and intra-familial variability in several genetic disorders highlighting the importance of other factors in determining phenotypic expression and the role of possible modifying genes and protein interactions. Developmental studies can help elucidate the mechanism of normal muscle formation and thus muscle regeneration. In the last fifteen years, our research has focused on muscle protein expression, localization and possible interactions in patients affected by different forms of muscular dystrophies. The main objective of this review is to summarize the most recent findings in the field and our own contribution.

  18. CPT-Violating Leptogenesis induced by Gravitational Defects

    Mavromatos, Nick E


    We explore leptogenesis induced by the propagation of neutrinos in gravitational backgrounds that may occur in string theory. The first background is due to linear dilatons and the associated Kalb-Ramond field (axion) in four non-compact space-time dimensions of the string, and can be described within the framework of local effective lagrangians. The axion is linear in the time coordinate of the Einstein frame and gives rise to a constant torsion which couples to the fermion spin through a gravitational covariant derivative. This leads to different energy-momentum dispersion relations for fermions and anti-fermions and hence leptogenesis. The next two backgrounds go beyond the local effective lagrangian framework. One is a stochastic (Lorentz Violating) Finsler metric which again leads to different dispersion relations between fermions and antifermions. The third background of primary interest is the one due to populations of stochastically fluctuating point-like space-time defects that can be encountered in ...

  19. Microradiography to evaluate bone growth into a rat mandibular defect

    Schortinghuis, J; Ruben, JL; Meijer, HJA; Bronckers, ALJJ; Raghoebar, GM; Stegenga, B; Schortinghuisa, Jurjen; Rubenb, Jan L.; Meijera, Henny J.A.; Bronckersc, Antonius L.J.J.; Raghoebara, Gerry M.

    Microradiography has been evaluated to measure bone heating into a 5.0 mm outer diameter mandibular defect in the rat. This method provides high-resolution radiographs of the defects that can be used for an accurate measurement of bone defect heating. In 12 rats, the defect widths of 42-day-old

  20. Logistic planning and control of reworking perishable production defectives

    R.H. Teunter (Ruud); S.D.P. Flapper


    textabstractWe consider a production line that is dedicated to a single product. Produced lots may be non-defective, reworkable defective, or non-reworkable defective. The production line switches between production and rework. After producing a fixed number (N) of lots, all reworkable defective lot

  1. Logistic planning and control of reworking perishable production defectives

    R.H. Teunter (Ruud); S.D.P. Flapper


    textabstractWe consider a production line that is dedicated to a single product. Produced lots may be non-defective, reworkable defective, or non-reworkable defective. The production line switches between production and rework. After producing a fixed number (N) of lots, all reworkable defective

  2. Decision making in reconstruction of defects of the eyelid.

    Ferguson, Noor M; Mathijssen, Irene M J; Hofer, Stefan O P; Mureau, Marc A M


    We present three patients with major defects of the eyelid who subsequently had them reconstructed. They included a defect of the lateral upper lid, a defect of the medial upper and lower lids, and a defect of the medial lower lid, cheek, and nose.

  3. Ovarian Cancers Harbor Defects in Nonhomologous End Joining Resulting in Resistance to Rucaparib.

    McCormick, Aiste; Donoghue, Peter; Dixon, Michelle; O'Sullivan, Richard; O'Donnell, Rachel L; Murray, James; Kaufmann, Angelika; Curtin, Nicola J; Edmondson, Richard J


    Purpose: DNA damage defects are common in ovarian cancer and can be used to stratify treatment. Although most work has focused on homologous recombination (HR), DNA double-strand breaks are repaired primarily by nonhomologous end joining (NHEJ). Defects in NHEJ have been shown to contribute to genomic instability and have been associated with the development of chemoresistance.Experimental Design: NHEJ was assessed in a panel of ovarian cancer cell lines and 47 primary ascetic-derived ovarian cancer cultures, by measuring the ability of cell extracts to end-join linearized plasmid monomers into multimers. mRNA and protein expression of components of NHEJ was determined using RT-qPCR and Western blotting. Cytotoxicities of cisplatin and the PARP inhibitor rucaparib were assessed using sulforhodamine B (SRB) assays. HR function was assessed using γH2AX/RAD51 foci assay.Results: NHEJ was defective (D) in four of six cell lines and 20 of 47 primary cultures. NHEJ function was independent of HR competence (C). NHEJD cultures were resistant to rucaparib (P = 0.0022). When HR and NHEJ functions were taken into account, only NHEJC/HRD cultures were sensitive to rucaparib (compared with NHEJC/HRC P = 0.034, NHEJD/HRC P = 0.0002, and NHEJD/HRD P = 0.0045). The DNA-PK inhibitor, NU7441, induced resistance to rucaparib (P = 0.014) and HR function recovery in a BRCA1-defective cell line.Conclusions: This study has shown that NHEJ is defective in 40% of ovarian cancers, which is independent of HR function and associated with resistance to PARP inhibitors in ex vivo primary cultures. Clin Cancer Res; 23(8); 2050-60. ©2016 AACR. ©2016 American Association for Cancer Research.

  4. Congenital defects of the pericardium: a review.

    Shah, Ankit B; Kronzon, Itzhak


    Pericardial defects are a rare disorder that can be characterized as acquired or congenital. Congenital defects can be further characterized by location and size of the defect, e.g. left- or right-sided and partial or complete absence of the pericardium. While physical examination and electrocardiogram are not diagnostic, chest radiographs and echocardiography have findings that should alert the clinician to the absence of the pericardium as a possible diagnosis. Despite its limitations with visualizing the normal pericardium in areas of minimal adipose, cardiac magnetic resonance is currently the gold standard for diagnosing the congenital absence of the pericardium. Patients have a similar life expectancy to those without pericardial defects; however in certain cases, herniation and strangulation of cardiac chambers can be life threatening and lead to sudden cardiac death. Treatment is tailored to the patient's symptoms, presentation, and the size and location of the defect. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email:

  5. Annealing study of a bistable cluster defect

    Junkes, Alexandra, E-mail: alexandra.junkes@desy.d [Institute for Experimental Physics, University of Hamburg, 22761 Hamburg (Germany); Eckstein, Doris [Institute for Experimental Physics, University of Hamburg, 22761 Hamburg (Germany); Pintilie, Ioana [Institute for Experimental Physics, University of Hamburg, 22761 Hamburg (Germany); NIMP Bucharest-Margurele (Romania); Makarenko, Leonid F. [Belarusian State University, Minsk (Belarus); Fretwurst, Eckhart [Institute for Experimental Physics, University of Hamburg, 22761 Hamburg (Germany)


    This work deals with the influence of neutron and proton induced cluster related defects on the properties of n-type silicon detectors. Defect concentrations were obtained by means of Deep Level Transient Spectroscopy (DLTS) and Thermally Stimulated Current (TSC) technique, while the full depletion voltage and the reverse current were extracted from capacitance-voltage (C-V) and current-voltage (I-V) characteristics. The annealing behaviour of the reverse current can be correlated with the annealing of the cluster related defect levels labeled E4a and E4b by making use of their bistability. This bistability was characterised by isochronal and isothermal annealing studies and it was found that the development with increasing annealing temperature is similar to that of divacancies. This supports the assumption that E4a and E4b are vacancy related defects. In addition we observe an influence of the disordered regions on the shape and height of the DLTS or TSC signals corresponding to point defects like the vacancy-oxygen complex.

  6. Color Vision Defects in School Going Children

    R K Shrestha


    Full Text Available Introduction: Color Vision defect can be observed in various diseases of optic nerve and retina and also a significant number of people suffer from the inherited condition of red and green color defect. Methods: A cross-sectional descritptive study was designed with purposive sampling of students from various schools of Kathmandu Valley. All children were subjected to color vision evaluation using Ishihara Isochromatic color plates along with other examination to rule out any other causes of color deficiency. Results: A total of 2001 students were examined, 1050 male students and 951 females with mean age of 10.35 (±2.75 and 10.54 (±2.72 respectively. Among the total students examined, 2.1% had some form of color vision defects. Of the male population , 3.9% had color vision defects while none of the female was found with the deficiency. Conclusions: The prelevance of color vision defect in Nepal is significant and comparable with the prelevance quoted in the studies from different countries. Keywords:color vision; congenital red green color effect; Nepal; prevalence.

  7. Reticle defect sizing of optical proximity correction defects using SEM imaging and image analysis techniques

    Zurbrick, Larry S.; Wang, Lantian; Konicek, Paul; Laird, Ellen R.


    Sizing of programmed defects on optical proximity correction (OPC) feature sis addressed using high resolution scanning electron microscope (SEM) images and image analysis techniques. A comparison and analysis of different sizing methods is made. This paper addresses the issues of OPC defect definition and discusses the experimental measurement results obtained by SEM in combination with image analysis techniques.

  8. Influence of Slot Defect Length on Magnetic Flux Leakage

    Songling HUANG; Luming LI; Haiqing YANG; Keren SHI


    A key issue, which influences the applications of magnetic flux leakage testing, is defect quantification. There have been many research on the relationship between width, depth and magnetic flux leakage of slot defect. However, the length factor is often ignored. The relationship between characteristics of defect leakage field and defect length was investigated. The magnetic flux leakages of a series of plate specimens with the same width, same depth and different length slot defects were tested under the same magnetizing conditions. Testing results show that defect length is an important parameter needed to consider in quantifying defects.

  9. Experience with peroneus brevis muscle flaps for reconstruction of distal leg and ankle defects

    Babu Bajantri


    Full Text Available Objective: Peroneus brevis is a muscle in the leg which is expendable without much functional deficit. The objective of this study was to find out its usefulness in coverage of the defects of the lower leg and ankle. Patients and Methods: A retrospective analysis of the use of 39 pedicled peroneus brevis muscle flaps used for coverage of defects of the lower leg and ankle between November 2010 and December 2012 was carried out. The flaps were proximally based for defects of the lower third of the leg in 12 patients and distally based for reconstruction of defects of the ankle in 26 patients, with one patient having flaps on both ankles. Results: Partial flap loss in critical areas was found in four patients requiring further flap cover and in non-critical areas in two patients, which were managed with a skin graft. Three of the four critical losses occurred when we used it for covering defects over the medial malleolus. There was no complete flap loss in any of the patients. Conclusion: This flap has a unique vascular pattern and fails to fit into the classification of the vasculature of muscles by Mathes and Nahai. The unusual feature is an axial vessel system running down the deep aspect of the muscle and linking the perforators from the peroneal artery and anterior tibial artery, which allows it to be raised proximally or distally on a single perforator. The flap is simple to raise and safe for the reconstruction of small-to moderate-sized skin defects of the distal third of the tibia and all parts of the ankle except the medial malleolus, which is too far from the pedicle of the distally based flap. The donor site can be closed primarily to provide a linear scar. The muscle flap thins with time to provide a good result aesthetically at the primary defect.

  10. Postreperfusion myocardial technetium-99m-sestamibi defect corresponds to area at risk

    Poulsen, Runa Hyldgaard, E-mail: [Clinical Institute, Aarhus University, DK-8000 Aarhus C (Denmark); Botker, Hans Erik [Department of Cardiology, Aarhus University Hospital, Skejby (Denmark); Rehling, Michael [Department of Nuclear Medicine, Aarhus University Hospital, Skejby (Denmark)


    Introduction: Technetium-99m-sestamibi (MIBI) is the most frequently used myocardial perfusion tracer in patients with ischemic heart disease. In patients with acute ST-elevation myocardial infarction, we previously found that the defect in myocardial MIBI uptake was the same in patients injected with MIBI before primary angioplasty and in patients injected immediately after successful treatment. Thus, reperfusion may not be followed by increased uptake of MIBI. Instead, the MIBI defect after reperfusion may reflect the area at risk (AAR) defined by MIBI injected before treatment. We intended to investigate whether myocardial imaging with MIBI administered after reperfusion reflects myocardial perfusion or rather the ischemic AAR. Methods: In 12 pigs, left anterior descending coronary artery was totally occluded for 45 min with an angioplasty balloon. After a 2-h reperfusion, MIBI was injected intravenously, and {sup 153}Gd-microspheres were injected in left atrium. AAR and infarct size (IS) were determined by histochemical staining. MIBI and microsphere distribution were evaluated by counting the sliced left ventricle on a gamma camera. Defects were defined as uptake less than 45% of maximum uptake. Results: The mean{+-}S.D. defect size as a fraction of left ventricle was for MIBI 21%{+-}5.5%, AAR 25%{+-}6.3%, IS 13%{+-}3.9% and microspheres defect size 7.3%{+-}5.5%. MIBI defect size overestimated IS (P=.0005) and microspheres defect size (P=.0001), but it was not significantly different from AAR (P=.30). Conclusion: In a porcine model of myocardial infarction after 45 min of ischemia, MIBI administered 120 min after reperfusion delineates AAR.

  11. Nucleic acid-based approaches to investigate microbial-related cheese quality defects.

    O'Sullivan, Daniel J; Giblin, Linda; McSweeney, Paul L H; Sheehan, Jeremiah J; Cotter, Paul D


    The microbial profile of cheese is a primary determinant of cheese quality. Microorganisms can contribute to aroma and taste defects, form biogenic amines, cause gas and secondary fermentation defects, and can contribute to cheese pinking and mineral deposition issues. These defects may be as a result of seasonality and the variability in the composition of the milk supplied, variations in cheese processing parameters, as well as the nature and number of the non-starter microorganisms which come from the milk or other environmental sources. Such defects can be responsible for production and product recall costs and thus represent a significant economic burden for the dairy industry worldwide. Traditional non-molecular approaches are often considered biased and have inherently slow turnaround times. Molecular techniques can provide early and rapid detection of defects that result from the presence of specific spoilage microbes and, ultimately, assist in enhancing cheese quality and reducing costs. Here we review the DNA-based methods that are available to detect/quantify spoilage bacteria, and relevant metabolic pathways in cheeses and, in the process, highlight how these strategies can be employed to improve cheese quality and reduce the associated economic burden on cheese processors.

  12. Nucleic acid-based approaches to investigate microbial-related cheese quality defects

    Daniel eO Sullivan


    Full Text Available AbstractThe microbial profile of cheese is a primary determinant of cheese quality. Microorganisms can contribute to aroma and taste defects, form biogenic amines, cause gas and secondary fermentation defects, and can contribute to cheese pinking and mineral deposition issues. These defects may be as a result of seasonality and the variability in the composition of the milk supplied, variations in cheese processing parameters, as well as the nature and number of the non-starter microorganisms which come from the milk or other environmental sources. Such defects can be responsible for production and product recall costs and thus represent a significant economic burden for the dairy industry worldwide. Traditional non-molecular approaches are often considered biased and have inherently slow turnaround times. Molecular techniques can provide early and rapid detection of defects that result from the presence of specific spoilage microbes and, ultimately, assist in enhancing cheese quality and reducing costs. Here we review the DNA-based methods that are available to detect/quantify spoilage bacteria, and relevant metabolic pathways, in cheeses and, in the process, highlight how these strategies can be employed to improve cheese quality and reduce the associated economic burden on cheese processors.

  13. Treatment of midfacial defects using prostheses supported by ITI dental implants.

    Scolozzi, Paolo; Jaques, Bertrand


    The purpose of this study was to evaluate retrospectively the use of ITI dental implants used for anchoring facial prostheses in the restorative treatment of midface defects. The authors analyzed the clinical data of 26 patients with orbital defects (n = 11), orbitonasal defects (n = 4), orbitonasomaxillary defects (n = 3), and nasal defects (n = 8). Data included age, sex, primary disease, implant position, implant length, implant failure, prosthetic attachment, radiation therapy, and peri-implant skin reactions. Follow-up was at 1, 3, 6, and 12 months and then on a yearly basis. The authors noted the status of healing and complications, if any. In total, 62 implants were placed as follows: 27 (43.5 percent) for orbital prostheses, 12 (19.4 percent) for orbitonasal prostheses, 14 (22.6 percent) for orbitonasomaxillary prostheses, and nine (14.5 percent) for nasal prostheses. Thirty-eight implants (61.3 percent) were placed in previously irradiated areas in 18 patients (69.2 percent). Mild skin reactions together with mild accumulation of sebaceous crusting around implants were recorded in 14.2 percent of the skin observations. No patient experienced severe inflammation requiring administration of systemic antibiotics or surgical revision. Implant success was 100 percent in both irradiated and nonirradiated patients. In conclusion, ITI dental implants result in a high rate of success in retaining midface prostheses and offer good stability and aesthetic satisfaction.

  14. Msh2 deficiency leads to chromosomal abnormalities, centrosome amplification, and telomere capping defect

    Wang, Yisong [ORNL; Liu, Yie [ORNL


    Msh2 is a key mammalian DNA mismatch repair (MMR) gene and mutations or deficiencies in mammalian Msh2 gene result in microsatellite instability (MSI+) and the development of cancer. Here, we report that primary mouse embryonic fibroblasts (MEFs) deficient in the murine MMR gene Msh2 (Msh2-/-) showed a significant increase in chromosome aneuploidy, centrosome amplification, and defective mitotic spindle organization and unequal chromosome segregation. Although Msh2-/- mouse tissues or primary MEFs had no apparent change in telomerase activity, telomere length, or recombination at telomeres, Msh2-/- MEFs showed an increase in chromosome end-to-end fusions or chromosome ends without detectable telomeric DNA. These data suggest that MSH2 helps to maintain genomic stability through the regulation of the centrosome and normal telomere capping in vivo and that defects in MMR can contribute to oncogenesis through multiple pathways.

  15. Point defect reduction in wide bandgap semiconductors by defect quasi Fermi level control

    Reddy, P.; Hoffmann, M. P.; Kaess, F.; Bryan, Z.; Bryan, I.; Bobea, M.; Klump, A.; Tweedie, J.; Kirste, R.; Mita, S.; Gerhold, M.; Collazo, R.; Sitar, Z.


    A theoretical framework for a general approach to reduce point defect density in materials via control of defect quasi Fermi level (dQFL) is presented. The control of dQFL is achieved via excess minority carrier generation. General guidelines for controlling dQFL that lead to a significant reduction in compensating point defects in any doped material is proposed. The framework introduces and incorporates the effects of various factors that control the efficacy of the defect reduction process such as defect level, defect formation energy, bandgap, and excess minority carrier density. Modified formation energy diagrams are proposed, which illustrate the effect of the quasi Fermi level control on the defect formation energies. These formation energy diagrams provide powerful tools to determine the feasibility and requirements to produce the desired reduction in specified point defects. An experimental study of the effect of excess minority carriers on point defect incorporation in GaN and AlGaN shows an excellent quantitative agreement with the theoretical predictions. Illumination at energies larger than the bandgap is employed as a means to generate excess minority carriers. The case studies with CN in Si doped GaN, H and VN in Mg doped GaN and VM-2ON in Si doped Al0.65Ga0.35N revealed a significant reduction in impurities in agreement with the proposed theory. Since compensating point defects control the material performance (this is particularly challenging in wide and ultra wide bandgap materials), dQFL control is a highly promising technique with wide scope and may be utilized to improve the properties of various materials systems and performance of devices based upon them.

  16. Indicators for Building Process without Final Defects -

    Jørgensen, Kirsten; Rasmussen, Grane Mikael Gregaard; Thuesen, Christian Langhoff


    This article introduces the preliminary data analysis, as well as the underlying theories and methods for identifying the indicators for building process without final defects. Since 2004, the Benchmark Centre for the Danish Construction Sector (BEC) has collected information about legal defects...... in connection with Danish construction enterprises that have been handed over. The project aims to utilise the knowledge potential available in BEC´s database in order to locate key performance indicators of construction failures and defects. The empirical data from BEC is applied in a more academic context...... than has been the case until now. The idea is to survey which indicators differentiate good construction and processes of construction from bad ones. The method is a retrospective analysis, which is based on data on the handing over. The data used has been partly that which BEC has already collected...

  17. Automated Defect Inspection Systems by Pattern Recognition

    Mira Park


    Full Text Available Visual inspection and classification of cigarettes packaged in a tin container is very important in manufacturing cigarette products that require high quality package presentation. For accurate automated inspection and classification, computer vision has been deployed widely in manufacturing. We present the detection of the defective packaging of tins of cigarettes by identifying individual objects in the cigarette tins. Object identification information is used for the classification of the acceptable cases (correctly packaged tins or defective cases (incorrectly packaged tins. This paper investigates the problem of identifying the individual cigarettes and a paper spoon in the packaged tin using image processing andmorphology operations. The segmentation performance was evaluated on 500 images including examples of both good cases and defective cases.

  18. Complement defects in patients with chronic rhinosinusitis

    Gaunsbaek, Maria Quisgaard; Lange, Bibi; Kjeldsen, Anette D;


    The complement system is an important part of our immune system, and complement defects lead generally to increased susceptibility to infections and autoimmune diseases. We have studied the role of complement activity in relation with chronic rhinosinusitis (CRS), and more specifically studied...... whether complement defects collectively predispose individuals for CRS or affect CRS severity. The participants comprised 87 CRS patients randomly selected from the general population, and a control group of 150 healthy blood donors. The CRS patients were diagnosed according to the European Position Paper...... on Rhinosinusitis and nasal Polyps criteria, and severity was evaluated by the Sino-nasal Outcome Test-22. Serum samples were analysed by ELISA for activity of the respective pathways of complement, and subsequently for serum levels of relevant components. We found that the frequency of complement defects...

  19. Topological Defects in the Cosmos and Lab

    Vachaspati, T


    Current theories of particle physics lead to the unavoidable conclusion that there must have been several phase transitions in the early universe. Further, in the context of these theories, it is possible that cosmological phase transitions would have produced topological defects that may be roaming our heavens today. A finding of these fossils from the early universe would provide a direct confirmation of the thermal history of the cosmos, insight into astrophysical phenomena, and, vital information about particle physics. The elimination of unobserved topological defects provides important constraints on particle physics and may also suggest novel cosmology. I describe some of the research on cosmic topological defects and recent efforts to address cosmological issues in condensed matter systems. (Invited article for publication in Contemporary Physics.)

  20. Defect (p,q) Five-branes

    Kimura, Tetsuji


    We study the local description of composite five-branes of codimension two. The formulation is constructed by virtue of the $SL(2,{\\mathbb Z}) \\times SL(2,{\\mathbb Z)}$ monodromy associated with two-torus. Applying the conjugate monodromy transformations to the complex structures of the two-torus, we obtain the field configuration of the defect $(p,q)$ five-branes. This is the composite state of $p$ defect NS5-branes and $q$ exotic $5^2_2$-branes. We also obtain a new hyper-K\\"{a}hler geometry. This is an ALG space, a generalization of an ALF space which asymptotically has a tri-holomorphic two-torus action. This geometry appears in the conjugate configuration of the single defect KK5-brane.

  1. Study of point defect detectors in Si


    The importance of point defects in semiconductor and functionmaterials has been studied indetail, but effective means for detecting point defects has not been available for a long time.Theend of range defects in Si, produced by 140 keV Ge+ implantation,were investigated as detectorsfor measuring the interstitial concentration created by 42 keV B+ implantation.The concentrationof interstitial resulting from the B+ implantation and the behaviorof the interstitial flux underdifferent annealing condition were given. The enhanced diffusion in the borondoped EPI marker,resulting from mobile non-equilibrium interstitials wasdemonstrated to be transient. Interstitialfluxes arising from processing can be detected bytransient enhanced diffusion (TED) of dopedmarker layers as well.

  2. Anomalous Coupling Between Topological Defects and Curvature

    Vitelli, Vincenzo; Turner, Ari M.


    We investigate a counterintuitive geometric interaction between defects and curvature in thin layers of superfluids, superconductors, and liquid crystals deposited on curved surfaces. Each defect feels a geometric potential whose functional form is determined only by the shape of the surface, but whose sign and strength depend on the transformation properties of the order parameter. For superfluids and superconductors, the strength of this interaction is proportional to the square of the charge and causes all defects to be repelled (attracted) by regions of positive (negative) Gaussian curvature. For liquid crystals in the one elastic constant approximation, charges between 0 and 4π are attracted by regions of positive curvature while all other charges are repelled.

  3. Atrioventricular septal defects among infants in Europe

    Christensen, Nikolas; Andersen, Helle; Garne, Ester


    OBJECTIVE: To describe the epidemiology of chromosomal and non-chromosomal cases of atrioventricular septal defects in Europe. METHODS: Data were obtained from EUROCAT, a European network of population-based registries collecting data on congenital anomalies. Data from 13 registries for the period...... 2000-2008 were included. RESULTS: There was a total of 993 cases of atrioventricular septal defects, with a total prevalence of 5.3 per 10,000 births (95% confidence interval 4.1 to 6.5). Of the total cases, 250 were isolated cardiac lesions, 583 were chromosomal cases, 79 had multiple anomalies, 58...... of pregnancy owing to foetal anomaly. Among the groups, additional associated cardiac anomalies were most frequent in heterotaxia cases (38%) and least frequent in chromosomal cases (8%). Coarctation of the aorta was the most common associated cardiac defect. The 1-week survival rate for live births was 94...

  4. Defects and quantum Seiberg-Witten geometry

    Bullimore, Mathew [Institute for Advanced Study, Einstein Dr., Princeton, NJ 08540 (United States); Kim, Hee-Cheol; Koroteev, Peter [Perimeter Institute for Theoretical Physics, 31 Caroline Street North, Waterloo, Ontario N2L2Y5 (Canada)


    We study the Nekrasov partition function of the five dimensional U(N) gauge theory with maximal supersymmetry on ℝ{sup 4}×S{sup 1} in the presence of codimension two defects. The codimension two defects can be described either as monodromy defects, or by coupling to a certain class of three dimensional quiver gauge theories on ℝ{sup 2}×S{sup 1}. We explain how these computations are connected with both classical and quantum integrable systems. We check, as an expansion in the instanton number, that the aforementioned partition functions are eigenfunctions of an elliptic integrable many-body system, which quantizes the Seiberg-Witten geometry of the five-dimensional gauge theory.

  5. Performance model to predict overall defect density

    J Venkatesh


    Full Text Available Management by metrics is the expectation from the IT service providers to stay as a differentiator. Given a project, the associated parameters and dynamics, the behaviour and outcome need to be predicted. There is lot of focus on the end state and in minimizing defect leakage as much as possible. In most of the cases, the actions taken are re-active. It is too late in the life cycle. Root cause analysis and corrective actions can be implemented only to the benefit of the next project. The focus has to shift left, towards the execution phase than waiting for lessons to be learnt post the implementation. How do we pro-actively predict defect metrics and have a preventive action plan in place. This paper illustrates the process performance model to predict overall defect density based on data from projects in an organization.

  6. Echocardiographic assessment and percutaneous closure of multiple atrial septal defects

    Timperley Jonathan


    Full Text Available Abstract Atrial septal defect closure is now routinely performed using a percutaneous approach under echocardiographic guidance. Centrally located, secundum defects are ideal for device closure but there is considerable morphological variation in size and location of the defects. A small proportion of atrial septal defects may have multiple fenestrations and these are often considered unsuitable for device closure. We report three cases of multiple atrial septal defects successfully closed with two Amplatzer septal occluders.

  7. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

    Leigh, Margaret W; Pittman, Jessica E; Carson, Johnny L; Ferkol, Thomas W; Dell, Sharon D; Davis, Stephanie D; Knowles, Michael R; Zariwala, Maimoona A


    Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.

  8. 48 CFR 1615.407-1 - Rate reduction for defective pricing or defective cost or pricing data.


    ... defective pricing or defective cost or pricing data. 1615.407-1 Section 1615.407-1 Federal Acquisition... for defective pricing or defective cost or pricing data. The clause set forth in section 1652.215-70... based on a combination of cost and price analysis (community-rated). ...

  9. Laterality defects in the national birth defects prevention study 1998-2007 birth prevalence and descriptive epidemiology

    Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007...

  10. Primary Occipital Encephalocele in an Elderly Patient.

    Barros, Fernanda Carvalho; Barros, Henrique Almeida; Júnior, Helvécio Marangon; Taitson, Paulo Franco


    The encephalocele is a condition characterized by the protrusion of the intracranial contents through a bone defect of the skull. The authors report a clinical case of an 80-year-old woman with primary occipital encephalocele on the right side and that was affected by trauma and presented liquor fistula and infection. Tomographic sections were obtained by injection intravenous of contrast. The images showed bone thickness thinning on the right occipital region and solution of continuity (encephalocele) with regular contours, reduction in brain volume, and hypodensity of the periventricular white substance were observed. The patient was successfully operated.

  11. Primary cilia and coordination of signaling pathways in heart development and tissue Homeostasis

    Clement, Christian Alexandro

    This thesis focuses on cilia and their sensory function in the mammalian organism. In particular, the Hedgehog (Hh) signaling pathway functions via the primary cilium and plays a unique role in development, differentiation, cancer and possibly in stem cell fate. Defects in primary cilia assembly...

  12. Swimming pool use and birth defect risk.

    Agopian, A J; Lupo, Philip J; Canfield, Mark A; Mitchell, Laura E


    Swimming during pregnancy is recommended. However, the use of swimming pools is also associated with infection by water-borne pathogens and exposure to water disinfection byproducts, which are 2 mechanisms that are suspected to increase risk for birth defects. Thus, we evaluated the relationship between maternal swimming pool use during early pregnancy and risk for select birth defects in offspring. Data were evaluated for nonsyndromic cases with 1 of 16 types of birth defects (n = 191-1829) and controls (n = 6826) from the National Birth Defects Prevention Study delivered during 2000-2006. Logistic regression analyses were conducted separately for each birth defect type. Separate analyses were conducted to assess any pool use (yes vs no) and frequent use (5 or more occasions in 1 month) during the month before pregnancy through the third month of pregnancy. There was no significant positive association between any or frequent pool use and any of the types of birth defects, even after adjustment for several potential confounders (maternal race/ethnicity, age at delivery, education, body mass index, folic acid use, nulliparity, smoking, annual household income, surveillance center, and season of conception). Frequent pool use was significantly negatively associated with spina bifida (adjusted odds ratio, 0.68; 95% confidence interval, 0.47-0.99). Among offspring of women 20 years old or older, pool use was associated with gastroschisis (adjusted odds ratio, 1.3; 95% confidence interval, 1.0-1.8), although not significantly so. We observed little evidence suggesting teratogenic effects of swimming pool use. Because swimming is a common and suggested form of exercise during pregnancy, these results are reassuring. Copyright © 2013 Mosby, Inc. All rights reserved.

  13. Air pollution and congenital heart defects.

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava


    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations.

  14. Caries prevalence and enamel defects in 5- and 10-year-old children with cleft lip and/or palate

    Sundell, Anna Lena; Nilsson, Anna-Karin; Ullbro, Christer


    OBJECTIVE: To determine the prevalence of dental caries and enamel defects in 5- and 10-year-old Swedish children with cleft lip and/or palate (CL(P)) in comparison to non-cleft controls. MATERIALS AND METHODS: The study group consisted of 139 children with CL(P) (80 subjects aged 5 years and 59...... aged 10 years) and 313 age-matched non-cleft controls. All children were examined by one of two calibrated examiners. Caries was scored according to the International Caries Detection and Assessment System (ICDAS-II) and enamel defects as presence and frequency of hypoplasia and hypomineralization...... prevalence of enamel defects was found in CL(P) children of both age groups and anterior permanent teeth were most commonly affected. CONCLUSIONS: Preschool children with cleft lip and/or palate seem to have more caries in the primary dentition than age-matched non-cleft controls. Enamel defects were more...

  15. Dirac oscillator interacting with a topological defect

    Carvalho, J.; Furtado, C.; Moraes, F. [Unidade Academica de Tecnologia de Alimentos, CCTA, Universidade Federal de Campina Grande, Pereiros, 58840-000, Pombal, Paraiba (Brazil); Departamento de Fisica, CCEN, Universidade Federal da Paraiba, Cidade Universitaria, 58051-970 Joao Pessoa, Paraiba (Brazil)


    In this work we study the interaction problem of a Dirac oscillator with gravitational fields produced by topological defects. The energy levels of the relativistic oscillator in the cosmic string and in the cosmic dislocation space-times are sensible to curvature and torsion associated to these defects and are important evidence of the influence of the topology on this system. In the presence of a localized magnetic field the energy levels acquire a term associated with the Aharonov-Bohm effect. We obtain the eigenfunctions and eigenvalues and see that in the nonrelativistic limit some results known in standard quantum mechanics are reached.

  16. Thermal Defects of Avionic Turbojet Engines

    Szczepankowski Andrzej


    Full Text Available The paper analyzes the most frequent reasons associated with operation of avionic turbojet engines (ATE and leading to initiation of thermal defects affecting turbine units. These reasons are illustrated with examples of gradual deteriorations revealed on surfaces of turbine parts and subassemblies and defected during endoscopic examinations of propelling drives. Attention is paid to various design and technological improvements that are implemented to counteract such deteriorations. The analysis is focused on mistakes that are committed during operation, repairs or manufacturing of avionic turbojet engines and that may affect safety of aircraft operations.

  17. Gauge theory and defects in solids

    Edelen, DGB


    This new series Mechanics and Physics of Discrete Systems aims to provide a coherent picture of the modern development of discrete physical systems. Each volume will offer an orderly perspective of disciplines such as molecular dynamics, crystal mechanics and/or physics, dislocation, etc. Emphasized in particular are the fundamentals of mechanics and physics that play an essential role in engineering applications.Volume 1, Gauge Theory and Defects in Solids, presents a detailed development of a rational theory of the dynamics of defects and damage in solids. Solutions to field e

  18. Lecture notes on 2-dimensional defect TQFT

    Carqueville, Nils


    These notes offer an introduction to the functorial and algebraic description of 2-dimensional topological quantum field theories `with defects', assuming only superficial familiarity with closed TQFTs in terms of commutative Frobenius algebras. The generalisation of this relation is a construction of pivotal 2-categories from defect TQFTs. We review this construction in detail, flanked by a range of examples. Furthermore we explain how open/closed TQFTs are equivalent to Calabi-Yau categories and the Cardy condition, and how to extract such data from pivotal 2-categories.

  19. Diagnosis and treatment of congenital heart defects

    Peuster, M.; Beerbaum, P.; Meyer, H. [Ruhr-Universitaet Bochum, Bad Oeyenhausen (Germany). Herz- und Diabeteszentrum NRW


    The Clinic for Congenital Heart Defects in Bad Oeynhausen, Germany, specializes in the interdisciplinary care of children and adolescents with congenital heart defects. The available expertise covers all aspects of diagnosis and treatment, as well as clinical research at the highest level. The clinic has a complete array of imaging systems, including a Philips Integris BV5000 Biplane cath lab system, Philips Gyroscan Intera CV MR system, ultrasound and PET systems. The range of available equipment makes it possible to select the most appropriate imaging modality for each situation, with particular reference to the need to minimize the overall radiation exposure. (orig.)

  20. Maximizing results in reconstruction of cheek defects.

    Mureau, Marc A M; Hofer, Stefan O P


    The face is exceedingly important, as it is the medium through which individuals interact with the rest of society. Reconstruction of cheek defects after trauma or surgery is a continuing challenge for surgeons who wish to reliably restore facial function and appearance. Important in aesthetic facial reconstruction are the aesthetic unit principles, by which the face can be divided in central facial units (nose, lips, eyelids) and peripheral facial units (cheeks, forehead, chin). This article summarizes established options for reconstruction of cheek defects and provides an overview of several modifications as well as tips and tricks to avoid complications and maximize aesthetic results.

  1. Defects and diffusion in semiconductors XIV

    Fisher, David J


    This 14th volume in the series covers the latest results in the field of Defects and Diffusion in Semiconductor. The issue also includes some original papers: An Experimental Study of the Thermal Properties of Modified 9Cr-1Mo Steel; Physico-Mechanical Properties of Sintered Iron-Silica Sand Nanoparticle Composites: A Preliminary Study; Defect and Dislocation Density Parameters of 5251 Al Alloy Using Positron Annihilation Lifetime Technique; A Novel Computational Strategy to Enhance the Ability of Elaborate Search by Entire Swarm to Find the Best Solution in Optimization of AMCs; Synthesis and

  2. GaN: Defect and Device Issues

    Pearton, S.J.; Ren, F.; Shul, R.J.; Zolper, J.C.


    The role of extended and point defects, and key impurities such as C, O and H, on the electrical and optical properties of GaN is reviewed. Recent progress in the development of high reliability contacts, thermal processing, dry and wet etching techniques, implantation doping and isolation and gate insulator technology is detailed. Finally, the performance of GaN-based electronic and photonic devices such as field effect transistors, UV detectors, laser diodes and light-emitting diodes is covered, along with the influence of process-induced or grown-in defects and impurities on the device physics.

  3. Toward defect guard-banding of EUV exposures by full chip optical wafer inspection of EUV mask defect adders

    Halle, Scott D.; Meli, Luciana; Delancey, Robert; Vemareddy, Kaushik; Crispo, Gary; Bonam, Ravi; Burkhardt, Martin; Corliss, Daniel


    The detection of EUV mask adder defects has been investigated with an optical wafer defect inspection system employing a methodology termed Die-to-"golden" Virtual Reference Die (D2VRD). Both opaque and clear type mask absorber programmed defects were inspected and characterized over a range of defect sizes, down to (4x mask) 40 nm. The D2VRD inspection system was capable of identifying the corresponding wafer print defects down to the limit of the defect printability threshold at approximately 30 nm (1x wafer). The efficacy of the D2VRD scheme on full chip wafer inspection to suppress random process defects and identify real mask defects is demonstrated. Using defect repeater analysis and patch image classification of both the reference die and the scanned die enables the unambiguous identification of mask adder defects.

  4. Primary Considerations for Primary TEFL in China

    Yvonne Griffiths


    This article will focus on five key areas relating to Primary TEFL in China. Firstly, the real TEFL context in Chinese primary schools will be discussed in terms of its special characteristics. Secondly, the current methodological approach will be examined from both a theoretical perspective, focusing on government (MOE) policy for primary TEFL, and a practical perspective, based on personal observations of classroom practice. The third section of the article will highlight some perceived shortcomings of current practice, while the fourth will outline the actual needs of primary learners in the Chinese educational system. Finally, the question of how teachers can meet these needs will be examined in relation to: methodological integration;integration of skills and sub-skills teaching/learning; and the exploitation of materials and activities to provide learners with three different types of language input and output opportunities (extensive, intensive and analysed: Swan, 2006).

  5. Brain tumor - primary - adults

    ... Vestibular schwannoma (acoustic neuroma) - adults; Meningioma - adults; Cancer - brain tumor (adults) ... Primary brain tumors include any tumor that starts in the brain. Primary brain tumors can start from brain cells, ...

  6. Primary Hyperparathyroidism: An Overview

    Jessica MacKenzie-Feder; Sandra Sirrs; Donald Anderson; Jibran Sharif; Aneal Khan


    Primary hyperparathyroidism is a common condition that affects 0.3% of the general population. Primary and tertiary care specialists can encounter patients with primary hyperparathyroidism, and prompt recognition and treatment can greatly reduce morbidity and mortality from this disease. In this paper we will review the basic physiology of calcium homeostasis and then consider genetic associations as well as common etiologies and presentations of primary hyperparathyroidism. We will consider...

  7. Primary Meningeal Rhabdomyosarcoma


    Primary meningeal rhabdomyosarcoma is a rare primary brain malignancy, with scant case reports. While most reports of primary intracranial rhabdomyosarcoma occur in pediatric patients, a handful of cases in adult patients have been reported in the medical literature. We report the case of a 44-year-old male who developed primary meningeal rhabdomyosarcoma. After developing episodes of right lower extremity weakness, word finding difficulty, and headaches, a brain magnetic resonance imagin...

  8. Primary Care's Dim Prognosis

    Alper, Philip R.


    Given the chorus of approval for primary care emanating from every party to the health reform debate, one might suppose that the future for primary physicians is bright. Yet this is far from certain. And when one looks to history and recognizes that primary care medicine has failed virtually every conceivable market test in recent years, its…

  9. Investigating Primary Source Literacy

    Archer, Joanne; Hanlon, Ann M.; Levine, Jennie A.


    Primary source research requires students to acquire specialized research skills. This paper presents results from a user study testing the effectiveness of a Web guide designed to convey the concepts behind "primary source literacy". The study also evaluated students' strengths and weaknesses when conducting primary source research. (Contains 3…

  10. Antibiotic prophylaxis in primary immune deficiency disorders.

    Kuruvilla, Merin; de la Morena, Maria Teresa


    Long-term prophylactic antibiotics are being widely implemented as primary or adjunctive therapy in primary immune deficiencies. This practice has transformed clinical outcomes in the setting of chronic granulomatous disease, complement deficiencies, Mendelian susceptibility to mycobacterial disease, Wiskott-Aldrich syndrome, hyper-IgE syndrome, Toll signaling defects, and prevented Pneumocystis in patients with T-cell deficiencies. Yet, controlled trials are few in the context of primary antibody deficiency syndromes, and most of this practice has been extrapolated from data in patients who are immune competent and with recurrent acute otitis media, chronic rhinosinusitis, cystic fibrosis, and bronchiectasis. The paucity of guidelines on the subject is reflected in recent surveys among practicing immunologists that highlight differences of habit regarding this treatment. Such discrepancies reinforce the lack of standard protocols on the subject. This review will provide evidence for the use of antibiotic prophylaxis in various primary immune deficiency populations, especially highlighting the role antibiotic prophylaxis in primary antibody deficiency syndromes. We also discussed the relationship of long-term antibiotic use and the prevalence of resistant pathogens. Overall, examination of available data on the use of prophylactic antibiotics in antibody deficiency syndromes merit future investigation in well-designed multicenter prospective trials because this population has few other management options.

  11. Variations in programmed phase defect size and its impact on defect detection signal intensity using at-wavelength inspection system

    Amano, Tsuyoshi; Takagi, Noriaki; Abe, Tsukasa


    A programmed phase defect Extreme Ultraviolet (EUV) mask was fabricated and measurement repeatability of the defect size using a scanning probe microscope (SPM) was evaluated. The SPM measurement results indicated that the defect size variation as registered by the measurement repeatability were much smaller than the defect-to-defect variations. It means the defect-to-defect variation in size actually does exist. Some defects were found where their sizes before a multilayer coating (on quartz) were all the same but after the coat their sizes varied quite significantly when observed on the multilayer. This result indicated that it is difficult to estimate the phase defect size on quartz, whereas they can be accurately measured on multilayer. Influences of the defect size variation on defect detection signal intensity (DSI) using an actinic blank inspection (ABI) system were examined; their influences on the wafer printability were also examined. The DSI was strongly correlated with defect depth on the multilayer, and it was also indicated that the ABI can detect small variations in defect sizes. It was also confirmed that the impact of the phase defects on wafer printed CDs were proportional to the DSIs, and that the ABI has a potential to detect phase defect that could cause 5 % of the CD error when printing 16 nm dense lines.

  12. Generation of optical vorticity from topological defects

    Fumeron, Sébastien [Institut Jean Lamour, Université de Lorraine, 54506 Vandoeuvre Cedex (France); Pereira, Erms [Instituto de Física, Universidade Federal de Alagoas, 57072-900 Maceió, Alagoas (Brazil); Escola Politécnica de Pernambuco, Universidade de Pernambuco, Rua Benfíca, 455, 50720-001 Recife, PE (Brazil); Moraes, Fernando, E-mail: [Departamento de Física and Departamento de Matemática, Universidade Federal de Pernambuco, 50670-901 Recife, PE (Brazil); Departamento de Física, CCEN, Universidade Federal da Paraíba, Caixa Postal 5008, 58051-900 João Pessoa, PB (Brazil)


    The propagation of an electromagnetic wave along a chiral string (or screw dislocation) is studied. Adopting the formalism of differential forms, it is shown that the singular torsion of the defect is responsible for quantized modes. Moreover, it is demonstrated that the modes thus obtained have well defined orbital angular momentum, opening the possibility for applications relevant both for cosmology and for optics.

  13. 7 CFR 51.1564 - External defects.


    ...) in the aggregate. Artificial Coloring When unsightly or when concealing any defect causing damage or... color and blends should be ignored) When more than 30 percent of the surface is affected by light tan or light brown colors which do not blend or when more than 15 percent of the surface is affected by...

  14. Living with a Congenital Heart Defect

    ... as “blue baby”. In the 1960s in India, open heart surgeries were unheard of. Uncorrected, this ... of Birth Defects, Blood Disorders & Disabilities Information For… Media Policy Makers Language: English (US) Español (Spanish) ...

  15. Osteochondral defects in the ankle: why painful?

    van Dijk, C.N.; Reilingh, M.L.; Zengerink, M.; van Bergen, C.J.A.


    Osteochondral defects of the ankle can either heal and remain asymptomatic or progress to deep ankle pain on weight bearing and formation of subchondral bone cysts. The development of a symptomatic OD depends on various factors, including the damage and insufficient repair of the subchondral bone pl

  16. Reorientation of Defect Dipoles in Ferroelectric Ceramics

    LI Bao-Shan; LI Guo-Rong; ZHAO Su-Chuan; ZHU Zhi-Gang; DING Ai-Li


    @@ We investigate the frequency, temperature, tetragonality and quenched temperature dependences of the hysteresis loops in Pb[(Zr0.52 Ti0.48)0.95 (Mn1/3Nb2/3)0.05]O3 (PMnN-PZT) ceramics. It has been demonstrated that the polarization-field hysteresis curves show "pinched" shapes when tested at room temperature, higher frequency or using the large-tetragonality specimen. While normal square-like loops are observed at 200 ℃ and 0.01 Hz or using the small-tetragonality one. Meanwhile, close relations between the P-E loops and the applied frequency,temperature or tetragonality reveal that there exists a typical relaxation time corresponding to the reorientation of the defect dipoles. It can be seen further from the quenched temperature dependences of the loops that the reorientation of the defect dipoles may influence the pinching. Compared to the intrinsic depinning procedure induced by changes of the distribution of defect dipoles, we provide new evidence for extrinsic depinning mechanism of the defect dipoles in the ferroelectric ceramics.

  17. When Your Baby Has a Birth Defect

    ... places to get information include: books written for parents of children with birth defects national organizations such as the March of Dimes, the National Information Center for Children and Youth With Disabilities, and those ... groups or other parents Keep a file with a running list of ...

  18. Interactions between Lattice Defects in Metallic Systems

    Pestman, Barend Jan


    The research concentrates on the explanation of the occurrence of brittle fracture from both the crystallographic structure and from plasticity. Especially the interaction between dislocations (line defects that move under the influence of an applied stress) and grain boundaries has been studied. Th

  19. 16 CFR 1115.4 - Defect.


    ... Practices CONSUMER PRODUCT SAFETY COMMISSION CONSUMER PRODUCT SAFETY ACT REGULATIONS SUBSTANTIAL PRODUCT HAZARD REPORTS General Interpretation § 1115.4 Defect. Section 15(b)(2) of the CPSA requires every manufacturer (including an importer), distributor, and retailer of a consumer product who obtains...

  20. On condensation of topological defects and confinement

    Gaete, P; Gaete, Patricio; Wotzasek, Clovis


    We study the static quantum potential for a theory of anti-symmetric tensor fields that results from the condensation of topological defects, within the framework of the gauge-invariant but path-dependent variables formalism. Our calculations show that the interaction energy is the sum of a Yukawa and a linear potentials, leading to the confinement of static probe charges.