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Digastric Muscle Phenotypes of the Ts65Dn Mouse Model of Down Syndrome.

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Tiffany J Glass

Full Text Available Down syndrome is frequently associated with complex difficulties in oromotor development, feeding, and swallowing. However, the muscle phenotypes underlying these deficits are unclear. We tested the hypotheses that the Ts65Dn mouse model of DS has significantly altered myosin heavy chain (MyHC isoform profiles of the muscles involved in feeding and swallowing, as well as reductions in the speed of these movements during behavioral assays. SDS-PAGE, immunofluorescence, and qRT-PCR were used to assess MyHC isoform expression in pertinent muscles, and functional feeding and swallowing performance were quantified through videofluoroscopy and mastication assays. We found that both the anterior digastric (ADG and posterior digastric (PDG muscles in 11-day old and 5-6 week old Ts65Dn groups showed significantly lower MyHC 2b protein levels than in age-matched euploid control groups. In videofluoroscopic and videotape assays used to quantify swallowing and mastication performance, 5-6 week old Ts65Dn and euploid controls showed similar swallow rates, inter-swallow intervals, and mastication rates. In analysis of adults, 10-11 week old Ts65Dn mice revealed significantly less MyHC 2b mRNA expression in the posterior digastric, but not the anterior digastric muscle as compared with euploid controls. Analysis of MyHC 2b protein levels across an adult age range (10-53 weeks of age revealed lower levels of MyHC 2b protein in the PDG of Ts65Dn than in euploids, but similar levels of MyHC 2b in the ADG. Cumulatively, these results indicate biochemical differences in some, but not all, muscles involved in swallowing and jaw movement in Ts65Dn mice that manifest early in post-natal development, and persist into adulthood. These findings suggest potential utility of this model for future investigations of the mechanisms of oromotor difficulties associated with Down syndrome.
Attentional function and basal forebrain cholinergic neuron morphology during aging in the Ts65Dn mouse model of Down syndrome.

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Powers, Brian E; Velazquez, Ramon; Kelley, Christy M; Ash, Jessica A; Strawderman, Myla S; Alldred, Melissa J; Ginsberg, Stephen D; Mufson, Elliott J; Strupp, Barbara J

2016-12-01

Individuals with Down syndrome (DS) exhibit intellectual disability and develop Alzheimer's disease-like neuropathology during the third decade of life. The Ts65Dn mouse model of DS exhibits key features of both disorders, including impairments in learning, attention and memory, as well as atrophy of basal forebrain cholinergic neurons (BFCNs). The present study evaluated attentional function in relation to BFCN morphology in young (3 months) and middle-aged (12 months) Ts65Dn mice and disomic (2N) controls. Ts65Dn mice exhibited attentional dysfunction at both ages, with greater impairment in older trisomics. Density of BFCNs was significantly lower for Ts65Dn mice independent of age, which may contribute to attentional dysfunction since BFCN density was positively associated with performance on an attention task. BFCN volume decreased with age in 2N but not Ts65Dn mice. Paradoxically, BFCN volume was greater in older trisomic mice, suggestive of a compensatory response. In sum, attentional dysfunction occurred in both young and middle-aged Ts65Dn mice, which may in part reflect reduced density and/or phenotypic alterations in BFCNs.
Hypocellularity in the Murine Model for Down Syndrome Ts65Dn Is Not Affected by Adult Neurogenesis

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López-Hidalgo, Rosa; Ballestín, Raul; Vega, Jessica; Blasco-Ibáñez, José M.; Crespo, Carlos; Gilabert-Juan, Javier; Nácher, Juan; Varea, Emilio

2016-01-01

Down syndrome (DS) is caused by the presence of an extra copy of the chromosome 21 and it is the most common aneuploidy producing intellectual disability. Neural mechanisms underlying this alteration may include defects in the formation of neuronal networks, information processing and brain plasticity. The murine model for DS, Ts65Dn, presents reduced adult neurogenesis. This reduction has been suggested to underlie the hypocellularity of the hippocampus as well as the deficit in olfactory learning in the Ts65Dn mice. Similar alterations have also been observed in individuals with DS. To determine whether the impairment in adult neurogenesis is, in fact, responsible for the hypocellularity in the hippocampus and physiology of the olfactory bulb, we have analyzed cell proliferation and neuronal maturation in the two major adult neurogenic niches in the Ts656Dn mice: the subgranular zone (SGZ) of the hippocampus and the subventricular zone (SVZ). Additionally, we carried out a study to determine the survival rate and phenotypic fate of newly generated cells in both regions, injecting 5′BrdU and sacrificing the mice 21 days later, and analyzing the number and phenotype of the remaining 5′BrdU-positive cells. We observed a reduction in the number of proliferating (Ki67 positive) cells and immature (doublecortin positive) neurons in the subgranular and SVZ of Ts65Dn mice, but we did not observe changes in the number of surviving cells or in their phenotype. These data correlated with a lower number of apoptotic cells (cleaved caspase 3 positive) in Ts65Dn. We conclude that although adult Ts65Dn mice have a lower number of proliferating cells, it is compensated by a lower level of cell death. This higher survival rate in Ts65Dn produces a final number of mature cells similar to controls. Therefore, the reduction of adult neurogenesis cannot be held responsible for the neuronal hypocellularity in the hippocampus or for the olfactory learning deficit of Ts65Dn mice
Galantamine improves olfactory learning in the Ts65Dn mouse model of Down syndrome.

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de Souza, Fabio M Simoes; Busquet, Nicolas; Blatner, Megan; Maclean, Kenneth N; Restrepo, Diego

2011-01-01

Down syndrome (DS) is the most common form of congenital intellectual disability. Although DS involves multiple disturbances in various tissues, there is little doubt that in terms of quality of life cognitive impairment is the most serious facet and there is no effective treatment for this aspect of the syndrome. The Ts65Dn mouse model of DS recapitulates multiple aspects of DS including cognitive impairment. Here the Ts65Dn mouse model of DS was evaluated in an associative learning paradigm based on olfactory cues. In contrast to disomic controls, trisomic mice exhibited significant deficits in olfactory learning. Treatment of trisomic mice with the acetylcholinesterase inhibitor galantamine resulted in a significant improvement in olfactory learning. Collectively, our study indicates that olfactory learning can be a sensitive tool for evaluating deficits in associative learning in mouse models of DS and that galantamine has therapeutic potential for improving cognitive abilities.
Adult-Onset Fluoxetine Treatment Does Not Improve Behavioral Impairments and May Have Adverse Effects on the Ts65Dn Mouse Model of Down Syndrome

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Markus Heinen

2012-01-01

Full Text Available Down syndrome is caused by triplication of chromosome 21 and is associated with neurocognitive phenotypes ranging from severe intellectual disability to various patterns of more selective neuropsychological deficits, including memory impairments. In the Ts65Dn mouse model of Down syndrome, excessive GABAergic neurotransmission results in local over-inhibition of hippocampal circuits, which dampens hippocampal synaptic plasticity and contributes to cognitive impairments. Treatments with several GABAA receptor antagonists result in increased plasticity and improved memory deficits in Ts65Dn mice. These GABAA receptor antagonists are, however, not suitable for clinical applications. The selective serotonin reuptake inhibitor fluoxetine, in contrast, is a widely prescribed antidepressant that can also enhance plasticity in the adult rodent brain by lowering GABAergic inhibition. For these reasons, we wondered if an adult-onset 4-week oral fluoxetine treatment restores spatial learning and memory impairments in Ts65Dn mice. Fluoxetine did not measurably improve behavioral impairments of Ts65Dn mice. On the contrary, we observed seizures and mortality in fluoxetine-treated Ts65Dn mice, raising the possibility of a drug × genotype interaction with respect to these adverse treatment outcomes. Future studies should re-address this in larger animal cohorts and determine if fluoxetine treatment is associated with adverse treatment effects in individuals with Down syndrome.
Protein dynamics associated with failed and rescued learning in the Ts65Dn mouse model of Down syndrome.

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Md Mahiuddin Ahmed

Full Text Available Down syndrome (DS is caused by an extra copy of human chromosome 21 (Hsa21. Although it is the most common genetic cause of intellectual disability (ID, there are, as yet, no effective pharmacotherapies. The Ts65Dn mouse model of DS is trisomic for orthologs of ∼55% of Hsa21 classical protein coding genes. These mice display many features relevant to those seen in DS, including deficits in learning and memory (L/M tasks requiring a functional hippocampus. Recently, the N-methyl-D-aspartate (NMDA receptor antagonist, memantine, was shown to rescue performance of the Ts65Dn in several L/M tasks. These studies, however, have not been accompanied by molecular analyses. In previous work, we described changes in protein expression induced in hippocampus and cortex in control mice after exposure to context fear conditioning (CFC, with and without memantine treatment. Here, we extend this analysis to Ts65Dn mice, measuring levels of 85 proteins/protein modifications, including components of MAP kinase and MTOR pathways, and subunits of NMDA receptors, in cortex and hippocampus of Ts65Dn mice after failed learning in CFC and after learning was rescued by memantine. We show that, compared with wild type littermate controls, (i of the dynamic responses seen in control mice in normal learning, >40% also occur in Ts65Dn in failed learning or are compensated by baseline abnormalities, and thus are considered necessary but not sufficient for successful learning, and (ii treatment with memantine does not in general normalize the initial protein levels but instead induces direct and indirect responses in approximately half the proteins measured and results in normalization of the endpoint protein levels. Together, these datasets provide a first view of the complexities associated with pharmacological rescue of learning in the Ts65Dn. Extending such studies to additional drugs and mouse models of DS will aid in identifying pharmacotherapies for effective
Hematopoietic Stem Cells from Ts65Dn Mice Are Deficient in the Repair of DNA Double-Strand Breaks.

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Wang, Yingying; Chang, Jianhui; Shao, Lijian; Feng, Wei; Luo, Yi; Chow, Marie; Du, Wei; Meng, Aimin; Zhou, Daohong

2016-06-01

Down syndrome (DS) is a genetic disorder caused by the presence of an extra partial or whole copy of chromosome 21. In addition to musculoskeletal and neurodevelopmental abnormalities, children with DS exhibit various hematologic disorders and have an increased risk of developing acute lymphoblastic leukemia and acute megakaryocytic leukemia. Using the Ts65Dn mouse model, we investigated bone marrow defects caused by trisomy for 132 orthologs of the genes on human chromosome 21. The results showed that, although the total bone marrow cellularity as well as the frequency of hematopoietic progenitor cells (HPCs) was comparable between Ts65Dn mice and their age-matched euploid wild-type (WT) control littermates, human chromosome 21 trisomy led to a significant reduction in hematopoietic stem cell (HSC) numbers and clonogenic function in Ts65Dn mice. We also found that spontaneous DNA double-strand breaks (DSBs) were significantly increased in HSCs from the Ts65Dn mice, which was correlated with the significant reduction in HSC clonogenic activity compared to those from WT controls. Moreover, analysis of the repair kinetics of radiation-induced DSBs revealed that HSCs from Ts65Dn mice were less proficient in DSB repair than the cells from WT controls. This deficiency was associated with a higher sensitivity of Ts65Dn HSCs to radiation-induced suppression of HSC clonogenic activity than that of euploid HSCs. These findings suggest that an additional copy of genes on human chromosome 21 may selectively impair the ability of HSCs to repair DSBs, which may contribute to DS-associated hematological abnormalities and malignancies.
Epigallocatechin-3-gallate (EGCG) consumption in the Ts65Dn model of Down syndrome fails to improve behavioral deficits and is detrimental to skeletal phenotypes.

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Stringer, Megan; Abeysekera, Irushi; Thomas, Jared; LaCombe, Jonathan; Stancombe, Kailey; Stewart, Robert J; Dria, Karl J; Wallace, Joseph M; Goodlett, Charles R; Roper, Randall J

2017-08-01

Down syndrome (DS) is caused by three copies of human chromosome 21 (Hsa21) and results in phenotypes including intellectual disability and skeletal deficits. Ts65Dn mice have three copies of ~50% of the genes homologous to Hsa21 and display phenotypes associated with DS, including cognitive deficits and skeletal abnormalities. DYRK1A is found in three copies in humans with Trisomy 21 and in Ts65Dn mice, and is involved in a number of critical pathways including neurological development and osteoclastogenesis. Epigallocatechin-3-gallate (EGCG), the main polyphenol in green tea, inhibits Dyrk1a activity. We have previously shown that EGCG treatment (~10mg/kg/day) improves skeletal abnormalities in Ts65Dn mice, yet the same dose, as well as ~20mg/kg/day did not rescue deficits in the Morris water maze spatial learning task (MWM), novel object recognition (NOR) or balance beam task (BB). In contrast, a recent study reported that an EGCG-containing supplement with a dose of 2-3mg per day (~40-60mg/kg/day) improved hippocampal-dependent task deficits in Ts65Dn mice. The current study investigated if an EGCG dosage similar to that study would yield similar improvements in either cognitive or skeletal deficits. Ts65Dn mice and euploid littermates were given EGCG [0.4mg/mL] or a water control, with treatments yielding average daily intakes of ~50mg/kg/day EGCG, and tested on the multivariate concentric square field (MCSF)-which assesses activity, exploratory behavior, risk assessment, risk taking, and shelter seeking-and NOR, BB, and MWM. EGCG treatment failed to improve cognitive deficits; EGCG also produced several detrimental effects on skeleton in both genotypes. In a refined HPLC-based assay, its first application in Ts65Dn mice, EGCG treatment significantly reduced kinase activity in femora but not in the cerebral cortex, cerebellum, or hippocampus. Counter to expectation, 9-week-old Ts65Dn mice exhibited a decrease in Dyrk1a protein levels in Western blot analysis
Long-term effect of neonatal inhibition of APP gamma-secretase on hippocampal development in the Ts65Dn mouse model of Down syndrome.

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Stagni, Fiorenza; Raspanti, Alessandra; Giacomini, Andrea; Guidi, Sandra; Emili, Marco; Ciani, Elisabetta; Giuliani, Alessandro; Bighinati, Andrea; Calzà, Laura; Magistretti, Jacopo; Bartesaghi, Renata

2017-07-01

Neurogenesis impairment is considered a major determinant of the intellectual disability that characterizes Down syndrome (DS), a genetic condition caused by triplication of chromosome 21. Previous evidence obtained in the Ts65Dn mouse model of DS showed that the triplicated gene APP (amyloid precursor protein) is critically involved in neurogenesis alterations. In particular, excessive levels of AICD (amyloid precursor protein intracellular domain) resulting from APP cleavage by gamma-secretase increase the transcription of Ptch1, a Sonic Hedgehog (Shh) receptor that keeps the mitogenic Shh pathway repressed. Previous evidence showed that neonatal treatment with ELND006, an inhibitor of gamma-secretase, reinstates the Shh pathway and fully restores neurogenesis in Ts65Dn pups. In the framework of potential therapies for DS, it is extremely important to establish whether the positive effects of early intervention are retained after treatment cessation. Therefore, the goal of the current study was to establish whether early treatment with ELND006 leaves an enduring trace in the brain of Ts65Dn mice. Ts65Dn and euploid pups were treated with ELND006 in the postnatal period P3-P15 and the outcome of treatment was examined at ~one month after treatment cessation. We found that in treated Ts65Dn mice the pool of proliferating cells in the hippocampal dentate gyrus (DG) and total number of granule neurons were still restored as was the number of pre- and postsynaptic terminals in the stratum lucidum of CA3, the site of termination of the mossy fibers from the DG. Accordingly, patch-clamp recording from field CA3 showed functional normalization of the input to CA3. Unlike in field CA3, the number of pre- and postsynaptic terminals in the DG of treated Ts65Dn mice was no longer fully restored. The finding that many of the positive effects of neonatal treatment were retained after treatment cessation provides proof of principle demonstration of the efficacy of early
Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice.

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Starbuck, John M; Dutka, Tara; Ratliff, Tabetha S; Reeves, Roger H; Richtsmeier, Joan T

2014-08-01

Trisomy 21 results in gene-dosage imbalance during embryogenesis and throughout life, ultimately causing multiple anomalies that contribute to the clinical manifestations of Down syndrome. Down syndrome is associated with manifestations of variable severity (e.g., heart anomalies, reduced growth, dental anomalies, shortened life-span). Craniofacial dysmorphology and cognitive dysfunction are consistently observed in all people with Down syndrome. Mouse models are useful for studying the effects of gene-dosage imbalance on development. We investigated quantitative changes in the skull and brain of the Dp(16)1Yey Down syndrome mouse model and compared these mice to Ts65Dn and Ts1Cje mouse models. Three-dimensional micro-computed tomography images of Dp(16)1Yey and euploid mouse crania were morphometrically evaluated. Cerebellar cross-sectional area, Purkinje cell linear density, and granule cell density were evaluated relative to euploid littermates. Skulls of Dp(16)1Yey and Ts65Dn mice displayed similar changes in craniofacial morphology relative to their respective euploid littermates. Trisomy-based differences in brain morphology were also similar in Dp(16)1Yey and Ts65Dn mice. These results validate examination of the genetic basis for craniofacial and brain phenotypes in Dp(16)1Yey mice and suggest that they, like Ts65Dn mice, are valuable tools for modeling the effects of trisomy 21 on development. © 2014 Wiley Periodicals, Inc.
Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities.

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Leach, P T; Crawley, J N

2017-12-20

Mutant mouse models of neurodevelopmental disorders with intellectual disabilities provide useful translational research tools, especially in cases where robust cognitive deficits are reproducibly detected. However, motor, sensory and/or health issues consequent to the mutation may introduce artifacts that preclude testing in some standard cognitive assays. Touchscreen learning and memory tasks in small operant chambers have the potential to circumvent these confounds. Here we use touchscreen visual discrimination learning to evaluate performance in the maternally derived Ube3a mouse model of Angelman syndrome, the Ts65Dn trisomy mouse model of Down syndrome, and the Mecp2 Bird mouse model of Rett syndrome. Significant deficits in acquisition of a 2-choice visual discrimination task were detected in both Ube3a and Ts65Dn mice. Procedural control measures showed no genotype differences during pretraining phases or during acquisition. Mecp2 males did not survive long enough for touchscreen training, consistent with previous reports. Most Mecp2 females failed on pretraining criteria. Significant impairments on Morris water maze spatial learning were detected in both Ube3a and Ts65Dn, replicating previous findings. Abnormalities on rotarod in Ube3a, and on open field in Ts65Dn, replicating previous findings, may have contributed to the observed acquisition deficits and swim speed abnormalities during water maze performance. In contrast, these motor phenotypes do not appear to have affected touchscreen procedural abilities during pretraining or visual discrimination training. Our findings of slower touchscreen learning in 2 mouse models of neurodevelopmental disorders with intellectual disabilities indicate that operant tasks offer promising outcome measures for the preclinical discovery of effective pharmacological therapeutics. © 2017 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.
Experience-dependent reduction of soluble β-amyloid oligomers and rescue of cognitive abilities in middle-age Ts65Dn mice, a model of Down syndrome.

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Sansevero, Gabriele; Begenisic, Tatjana; Mainardi, Marco; Sale, Alessandro

2016-09-01

Down syndrome (DS) is the most diffused genetic cause of intellectual disability and, after the age of forty, is invariantly associated with Alzheimer's disease (AD). In the last years, the prolongation of life expectancy in people with DS renders the need for intervention paradigms aimed at improving mental disability and counteracting AD pathology particularly urgent. At present, however, there are no effective therapeutic strategies for DS and concomitant AD in mid-life people. The most intensively studied mouse model of DS is the Ts65Dn line, which summarizes the main hallmarks of the DS phenotype, included severe learning and memory deficits and age-dependent AD-like pathology. Here we report for the first time that middle-age Ts65Dn mice display a marked increase in soluble Aβ oligomer levels in their hippocampus. Moreover, we found that long-term exposure to environmental enrichment (EE), a widely used paradigm that increases sensory-motor stimulation, reduces Aβ oligomers and rescues spatial memory abilities in trisomic mice. Our findings underscore the potential of EE procedures as a non-invasive paradigm for counteracting brain aging processes in DS subjects. Copyright © 2016 Elsevier Inc. All rights reserved.
Short- and long-term effects of neonatal pharmacotherapy with epigallocatechin-3-gallate on hippocampal development in the Ts65Dn mouse model of Down syndrome.

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Stagni, Fiorenza; Giacomini, Andrea; Emili, Marco; Trazzi, Stefania; Guidi, Sandra; Sassi, Martina; Ciani, Elisabetta; Rimondini, Roberto; Bartesaghi, Renata

2016-10-01

Cognitive disability is an unavoidable feature of Down syndrome (DS), a genetic disorder due to the triplication of human chromosome 21. DS is associated with alterations of neurogenesis, neuron maturation and connectivity that are already present at prenatal life stages. Recent evidence shows that pharmacotherapies can have a large impact on the trisomic brain provided that they are administered perinatally. Epigallocatechin-3-gallate (EGCG), the major polyphenol of green tea, performs many actions in the brain, including inhibition of DYRK1A, a kinase that is over-expressed in the DS brain and contributes to the DS phenotype. Young adults with DS treated with EGCG exhibit some cognitive benefits, although these effects disappear with time. We deemed it extremely important, however, to establish whether treatment with EGCG at the initial stages of brain development leads to plastic changes that outlast treatment cessation. In the current study, we exploited the Ts65Dn mouse model of DS in order to establish whether pharmacotherapy with EGCG during peak of neurogenesis in the hippocampal dentate gyrus (DG) enduringly restores hippocampal development and memory performance. Euploid and Ts65Dn mice were treated with EGCG from postnatal day 3 (P3) to P15. The effects of treatment were examined at its cessation (at P15) or after one month (at P45). We found that at P15 treated trisomic pups exhibited restoration of neurogenesis, total hippocampal granule cell number and levels of pre- and postsynaptic proteins in the DG, hippocampus and neocortex. However, at P45 none of these effects were still present, nor did treated Ts65Dn mice exhibit any improvement in hippocampus-dependent tasks. These findings show that treatment with EGCG carried out in the neonatal period rescues numerous trisomy-linked brain alterations. However, even during this, the most critical time window for hippocampal development, EGCG does not elicit enduring effects on the hippocampal physiology
Disruption of Inhibitory Function in the Ts65Dn Mouse Hippocampus Through Overexpression of GIRK2

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2007-10-24

embryological and developmental or a result of later problems. Delays in prenatal growth of the Ts65Dn cerebral cortex and hippocampus due to longer...cultured from both DS patients and model animals are also reportedly more vulnerable to apoptosis (Sawa, 1999). A majority of research investigating cell...death in DS has been limited to several apoptosis -related genes, including those related to oxidative stress, and transcription factors overexpressed
A flavonoid agonist of the TrkB receptor for BDNF improves hippocampal neurogenesis and hippocampus-dependent memory in the Ts65Dn mouse model of DS.

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Stagni, Fiorenza; Giacomini, Andrea; Guidi, Sandra; Emili, Marco; Uguagliati, Beatrice; Salvalai, Maria Elisa; Bortolotto, Valeria; Grilli, Mariagrazia; Rimondini, Roberto; Bartesaghi, Renata

2017-12-01

Intellectual disability is the unavoidable hallmark of Down syndrome (DS), with a heavy impact on public health. Reduced neurogenesis and impaired neuron maturation are considered major determinants of altered brain function in DS. Since the DS brain starts at a disadvantage, attempts to rescue neurogenesis and neuron maturation should take place as soon as possible. The brain-derived neurotrophic factor (BDNF) is a neurotrophin that plays a key role in brain development by specifically binding to tropomyosin-related kinase receptor B (TrkB). Systemic BDNF administration is impracticable because BDNF has a poor blood-brain barrier penetration. Recent screening of a chemical library has identified a flavone derivative, 7,8-dihydroxyflavone (7,8-DHF), a small-molecule that crosses the blood-brain barrier and binds with high affinity and specificity to the TrkB receptor. The therapeutic potential of TrkB agonists for neurogenesis improvement in DS has never been examined. The goal of our study was to establish whether it is possible to restore brain development in the Ts65Dn mouse model of DS by targeting the TrkB receptor with 7,8-DHF. Ts65Dn mice subcutaneously injected with 7,8-DHF in the neonatal period P3-P15 exhibited a large increase in the number of neural precursor cells in the dentate gyrus and restoration of granule cell number, density of dendritic spines and levels of the presynaptic protein synaptophysin. In order to establish the functional outcome of treatment, mice were treated with 7,8-DHF from P3 to adolescence (P45-50) and were tested with the Morris Water Maze. Treated Ts65Dn mice exhibited improvement of learning and memory, indicating that the recovery of the hippocampal anatomy translated into a functional rescue. Our study in a mouse model of DS provides novel evidence that treatment with 7,8-DHF during the early postnatal period restores the major trisomy-linked neurodevelopmental defects, suggesting that therapy with 7,8-DHF may represent a
Pre- and post-natal melatonin administration partially regulates brain oxidative stress but does not improve cognitive or histological alterations in the Ts65Dn mouse model of Down syndrome.

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Corrales, Andrea; Parisotto, Eduardo B; Vidal, Verónica; García-Cerro, Susana; Lantigua, Sara; Diego, Marian; Wilhem Filho, Danilo; Sanchez-Barceló, Emilio J; Martínez-Cué, Carmen; Rueda, Noemí

2017-09-15

Melatonin administered during adulthood induces beneficial effects on cognition and neuroprotection in the Ts65Dn (TS) mouse model of Down syndrome. Here, we investigated the effects of pre- and post-natal melatonin treatment on behavioral and cognitive abnormalities and on several neuromorphological alterations (hypocellularity, neurogenesis impairment and increased oxidative stress) that appear during the early developmental stages in TS mice. Pregnant TS females were orally treated with melatonin or vehicle from the time of conception until the weaning of the offspring, and the pups continued to receive the treatment from weaning until the age of 5 months. Melatonin administered during the pre- and post-natal periods did not improve the cognitive impairment of TS mice as measured by the Morris Water maze or fear conditioning tests. Histological alterations, such as decreased proliferation (Ki67+ cells) and hippocampal hypocellularity (DAPI+ cells), which are typical in TS mice, were not prevented by melatonin. However, melatonin partially regulated brain oxidative stress by modulating the activity of the primary antioxidant enzymes (superoxide dismutase in the cortex and catalase in the cortex and hippocampus) and slightly decreasing the levels of lipid peroxidation in the hippocampus of TS mice. These results show the inability of melatonin to prevent cognitive impairment in TS mice when it is administered at pre- and post-natal stages. Additionally, our findings suggest that to induce pro-cognitive effects in TS mice during the early stages of development, in addition to attenuating oxidative stress, therapies should aim to improve other altered processes, such as hippocampal neurogenesis and/or hypocellularity. Copyright © 2017 Elsevier B.V. All rights reserved.
Low dose EGCG treatment beginning in adolescence does not improve cognitive impairment in a Down syndrome mouse model.

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Stringer, Megan; Abeysekera, Irushi; Dria, Karl J; Roper, Randall J; Goodlett, Charles R

2015-11-01

Down syndrome (DS) or Trisomy 21 causes intellectual disabilities in humans and the Ts65Dn DS mouse model is deficient in learning and memory tasks. DYRK1A is triplicated in DS and Ts65Dn mice. Ts65Dn mice were given up to ~20mg/kg/day epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, or water beginning on postnatal day 24 and continuing for three or seven weeks, and were tested on a series of behavioral and learning tasks, including a novel balance beam test. Ts65Dn as compared to control mice exhibited higher locomotor activity, impaired novel object recognition, impaired balance beam and decreased spatial learning and memory. Neither EGCG treatment improved performance of the Ts65Dn mice on these tasks. Ts65Dn mice had a non-significant increase in Dyrk1a activity in the hippocampus and cerebellum. Given the translational value of the Ts65Dn mouse model, further studies will be needed to identify the EGCG doses (and mechanisms) that may improve cognitive function. Copyright © 2015 Elsevier Inc. All rights reserved.
The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

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Matthieu Raveau

2012-05-01

Full Text Available Down syndrome (DS leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1. In addition cardiac connexins (Cx40, Cx43 and sodium channel sub-units (Scn5a, Scn1b, Scn10a were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.
Oxidant production and SOD1 protein expression in single skeletal myofibers from Down syndrome mice

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Patrick M. Cowley

2017-10-01

Full Text Available Down syndrome (DS is a genetic condition caused by the triplication of chromosome 21. Persons with DS exhibit pronounced muscle weakness, which also occurs in the Ts65Dn mouse model of DS. Oxidative stress is thought to be an underlying factor in the development of DS-related pathologies including muscle dysfunction. High-levels of oxidative stress have been attributed to triplication and elevated expression of superoxide dismutase 1 (SOD1; a gene located on chromosome 21. The elevated expression of SOD1 is postulated to increase production of hydrogen peroxide and cause oxidative injury and cell death. However, it is unknown whether SOD1 protein expression is associated with greater oxidant production in skeletal muscle from Ts65Dn mice. Thus, our objective was to assess levels of SOD1 expression and oxidant production in skeletal myofibers from the flexor digitorum brevis obtained from Ts65Dn and control mice. Measurements of oxidant production were obtained from myofibers loaded with 2′,7′-dichlorodihydrofluorescein diacetate (DCFH2-DA in the basal state and following 15 min of stimulated unloaded contraction. Ts65Dn myofibers exhibited a significant decrease in basal DCF emissions (p 0.05. Myofibers from Ts65Dn mice tended to be smaller and myonuclear domain was lower (p < 0.05. In summary, myofibers from Ts65Dn mice exhibited decreased basal DCF emissions that were coupled with elevated protein expression of SOD1. Stimulated contraction in isolated myofibers did not affect DCF emissions in either group. These findings suggest the skeletal muscle dysfunction in the adult Ts65Dn mouse is not associated with skeletal muscle oxidative stress.
Prenatal treatment prevents learning deficit in Down syndrome model.

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Incerti, Maddalena; Horowitz, Kari; Roberson, Robin; Abebe, Daniel; Toso, Laura; Caballero, Madeline; Spong, Catherine Y

2012-01-01

Down syndrome is the most common genetic cause of mental retardation. Active fragments of neurotrophic factors release by astrocyte under the stimulation of vasoactive intestinal peptide, NAPVSIPQ (NAP) and SALLRSIPA (SAL) respectively, have shown therapeutic potential for developmental delay and learning deficits. Previous work demonstrated that NAP+SAL prevent developmental delay and glial deficit in Ts65Dn that is a well-characterized mouse model for Down syndrome. The objective of this study is to evaluate if prenatal treatment with these peptides prevents the learning deficit in the Ts65Dn mice. Pregnant Ts65Dn female and control pregnant females were randomly treated (intraperitoneal injection) on pregnancy days 8 through 12 with saline (placebo) or peptides (NAP 20 µg +SAL 20 µg) daily. Learning was assessed in the offspring (8-10 months) using the Morris Watermaze, which measures the latency to find the hidden platform (decrease in latency denotes learning). The investigators were blinded to the prenatal treatment and genotype. Pups were genotyped as trisomic (Down syndrome) or euploid (control) after completion of all tests. two-way ANOVA followed by Neuman-Keuls test for multiple comparisons, PDown syndrome-placebo; n = 11) did not demonstrate learning over the five day period. DS mice that were prenatally exposed to peptides (Down syndrome-peptides; n = 10) learned significantly better than Down syndrome-placebo (ptreatment with the neuroprotective peptides (NAP+SAL) prevented learning deficits in a Down syndrome model. These findings highlight a possibility for the prevention of sequelae in Down syndrome and suggest a potential pregnancy intervention that may improve outcome.

Early environmental therapy rescues brain development in a mouse model of Down syndrome.

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Begenisic, Tatjana; Sansevero, Gabriele; Baroncelli, Laura; Cioni, Giovanni; Sale, Alessandro

2015-10-01

Down syndrome (DS), the most common genetic disorder associated with intellectual disabilities, is an untreatable condition characterized by a number of developmental defects and permanent deficits in the adulthood. Ts65Dn mice, the major animal model for DS, display severe cognitive and synaptic plasticity defects closely resembling the human phenotype. Here, we employed a multidisciplinary approach to investigate, for the first time in developing Ts65Dn mice, the effects elicited by early environmental enrichment (EE) on brain maturation and function. We report that exposure to EE resulted in a robust increase in maternal care levels displayed by Ts65Dn mothers and led to a normalization of declarative memory abilities and hippocampal plasticity in trisomic offspring. The positive effects of EE on Ts65Dn phenotype were not limited to the cognitive domain, but also included a rescue of visual system maturation. The beneficial EE effects were accompanied by increased BDNF and correction of over-expression of the GABA vesicular transporter vGAT. These findings highlight the beneficial impact of early environmental stimuli and their potential for application in the treatment of major functional deficits in children with DS. Copyright © 2015 Elsevier Inc. All rights reserved.
Early increased density of cyclooxygenase-2 (COX-2 immunoreactive neurons in Down syndrome

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Maria Mulet

2017-06-01

Full Text Available Neuroinflammation is one of the hallmarks of Alzheimer’s disease. One of the enzymes involved in neuroinflammation, even in early stages of the disease, is COX-2, an inducible cyclooxygenase responsible for the generation of eicosanoids and for the generation of free radicals. Individuals with Down syndrome develop Alzheimer’s disease early in life. Previous studies pointed to the possible overexpression of COX-2 and correlated it to brain regions affected by the disease. We analysed the COX-2 expression levels in individuals with Down syndrome and in young, adult and old mice of the Ts65Dn mouse model for Down syndrome. We have observed an overexpression of COX-2 in both, Down syndrome individuals and mice. Importantly, mice already presented an overexpression of COX-2 at postnatal day 30, before neurodegeneration begins; which suggests that neuroinflammation may underlie the posterior neurodegeneration observed in individuals with Down syndrome and in Ts65Dn mice and could be a factor for the premature appearance of Alzheimer’s disease.
Short-term treatment with flumazenil restores long-term object memory in a mouse model of Down syndrome.

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Colas, Damien; Chuluun, Bayarsaikhan; Garner, Craig C; Heller, H Craig

2017-04-01

Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABA A receptor (GABA A R) antagonists in adult animals, but none of the compounds investigated are approved for human use. We explored the therapeutic potential of flumazenil (FLUM), a GABA A R antagonist working at the benzodiazepine binding site that has FDA approval. Long-term memory was assessed by the Novel Object Recognition (NOR) testing in Ts65Dn mice after acute or short-term chronic treatment with FLUM. Short-term, low, chronic dose regimens of FLUM elicit long-lasting (>1week) normalization of cognitive function in both young and aged mice. FLUM at low dosages produces long lasting cognitive improvements and has the potential of fulfilling an unmet therapeutic need in DS. Copyright © 2017. Published by Elsevier Inc.
Adrenalectomy for Cushing's syndrome: do's and don'ts.

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Paduraru, D N; Nica, A; Carsote, M; Valea, A

2016-01-01

Aim. To present specific aspects of adrenalectomy for Cushing's syndrome (CS) by introducing well established aspects ("do's") and less known aspects ("don'ts"). Material and Method. This is a narrative review. Results. The "do's" for laparoscopic adrenalectomy (LA) are the following: it represents the "gold standard" for secretor and non-secretor adrenal tumors and the first line therapy for CS with an improvement of cardio-metabolic co-morbidities; the success rate depending on the adequate patients' selection and the surgeon's skills. The "don'ts" are large (>6-8 centimeters), locally invasive, malignant tumors requiring open adrenalectomy (OA). Robotic adrenalectomy is a new alternative for LA, with similar safety and conversion rate and lower pain drugs use. The "don'ts" are the following: lack of randomized controlled studies including oncologic outcome, different availability at surgical centers. Related to the sub-types of CS, the "do's" are the following: adrenal adenomas which are cured by LA, while adrenocortical carcinoma (ACC) requires adrenalectomy as first line therapy and adjuvant mitotane therapy; synchronous bilateral adrenalectomy (SBA) is useful for Cushing's disease (only cases refractory to pituitary targeted therapy), for ectopic Cushing's syndrome (cases with unknown or inoperable primary site), and for bilateral cortisol producing adenomas. The less established aspects are the following: criteria of skilled surgeon to approach ACC; the timing of surgery in subclinical CS; the need for adrenal vein catheterization (which is not available in many centers) to avoid unnecessary SBA. Conclusion. Adrenalectomy for CS is a dynamic domain; LA overstepped the former OA area. The future will improve the knowledge related to RA while the cutting edge is represented by a specific frame of intervention in SCS, children and pregnant women. Abbreviations: ACC = adrenocortical carcinoma, ACTH = Adrenocorticotropic Hormone, CD = Cushing's disease, CS
Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome [v1; ref status: indexed, http://f1000r.es/5ky

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Long H. Do

2015-07-01

Full Text Available Recently, in studies examining fibroblasts obtained from the tissues of one set of monozygotic twins (i.e. fetuses derived from the same egg discordant for trisomy 21 (Down syndrome; DS, Letourneau et al., reported the presence of a defined pattern of dysregulation within specific genomic domains they referred to as Gene Expression Dysregulated Domains (GEDDs. GEDDs were described as alternating segments of increased or decreased gene expression affecting all chromosomes. Strikingly, GEDDs in fibroblasts were largely conserved in induced pluripotent cells (iPSCs generated from the twin’s fibroblasts as well as in fibroblasts from the Ts65Dn mouse model of DS. Our recent analysis failed to find GEDDs. We reexamined the human iPSCs RNAseq data from Letourneau et al., and data from this same research group published earlier examining iPSCs from the same monozygotic twins. An independent analysis of RNAseq data from Ts65Dn fibroblasts also failed to confirm presence of GEDDs. Our analysis questions the validity of GEDDs in DS.
Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.

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McElyea, Samantha D; Starbuck, John M; Tumbleson-Brink, Danika M; Harrington, Emily; Blazek, Joshua D; Ghoneima, Ahmed; Kula, Katherine; Roper, Randall J

2016-11-15

Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. We hypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage. In vitro and in vivo treatment with Epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points. Furthermore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adult Ts65Dn mice. Normalization of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the cranial vault, but did not correct all craniofacial anatomy. These data underscore the complexity of the gene–phenotype relationship in trisomy and suggest that changes in Dyrk1a expression play an important role in morphogenesis and growth of the cranial vault. These results suggest that a temporally specific prenatal therapy may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.
Tegafur/gimeracil/oteracil (TS-1 induced Stevens–Johnson syndrome: Case report

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Satoko Minakawa

2013-09-01

Full Text Available TS-1 is an oral fluoropyrimidine anticancer drug that contains tegafur, gimeracil, and oteracil. A 78-year-old Japanese male who was diagnosed with carcinoma of the oral floor (rT4aN0M0 was prescribed a standard dose of TS-1 (80 mg/day. On Day 8 after administration of TS-1, an eruption developed. There was erythema, along with vesicles and erosions involving the lip, face, neck, trunk, limbs, and genitals. The drug-induced lymphocyte stimulation test (DLST for TS-1 was negative on the 23rd day, but positive on the 43rd day (20 days after discontinuing prednisolone. The condition was diagnosed as Stevens–Johnson syndrome due to TS-1 because of the clinical course and laboratory results. This case and 24 cases previously reported in the literature were analyzed. The types of drug eruption were drug-related lupus (9 cases, acral erythema (7 cases, scleroderma-like skin lesion (2 cases, Stevens–Johnson syndrome (2 cases, lichenoid eruption (1 case, purpura (1 case, lichen planus (1 case, erythema multiforme (1 case, hypopigmentation (1 case and toxic epidermal necrolysis (1 case, respectively. In view of the increasing usage of TS-1 in several common cancers, clinicians should be aware of drug eruptions due to TS-1.
Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp(16)1/Yey mouse models of Down syndrome.

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Aziz, Nadine M; Guedj, Faycal; Pennings, Jeroen L A; Olmos-Serrano, Jose Luis; Siegel, Ashley; Haydar, Tarik F; Bianchi, Diana W

2018-01-01

Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological hallmarks of DS include atypical central nervous system development that manifests prenatally and extends throughout life. As a result, individuals with DS exhibit cognitive and motor deficits and have delays in
Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media.

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Stephanie Kuhn

Full Text Available Down syndrome is one of the most common congenital disorders leading to a wide range of health problems in humans, including frequent otitis media. The Tc1 mouse carries a significant part of human chromosome 21 (Hsa21 in addition to the full set of mouse chromosomes and shares many phenotypes observed in humans affected by Down syndrome with trisomy of chromosome 21. However, it is unknown whether Tc1 mice exhibit a hearing phenotype and might thus represent a good model for understanding the hearing loss that is common in Down syndrome. In this study we carried out a structural and functional assessment of hearing in Tc1 mice. Auditory brainstem response (ABR measurements in Tc1 mice showed normal thresholds compared to littermate controls and ABR waveform latencies and amplitudes were equivalent to controls. The gross anatomy of the middle and inner ears was also similar between Tc1 and control mice. The physiological properties of cochlear sensory receptors (inner and outer hair cells: IHCs and OHCs were investigated using single-cell patch clamp recordings from the acutely dissected cochleae. Adult Tc1 IHCs exhibited normal resting membrane potentials and expressed all K(+ currents characteristic of control hair cells. However, the size of the large conductance (BK Ca(2+ activated K(+ current (I(K,f, which enables rapid voltage responses essential for accurate sound encoding, was increased in Tc1 IHCs. All physiological properties investigated in OHCs were indistinguishable between the two genotypes. The normal functional hearing and the gross structural anatomy of the middle and inner ears in the Tc1 mouse contrast to that observed in the Ts65Dn model of Down syndrome which shows otitis media. Genes that are trisomic in Ts65Dn but disomic in Tc1 may predispose to otitis media when an additional copy is active.
Chronic melatonin treatment rescues electrophysiological and neuromorphological deficits in a mouse model of Down syndrome.

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Corrales, Andrea; Vidal, Rebeca; García, Susana; Vidal, Verónica; Martínez, Paula; García, Eva; Flórez, Jesús; Sanchez-Barceló, Emilio J; Martínez-Cué, Carmen; Rueda, Noemí

2014-01-01

The Ts65Dn mouse (TS), the most commonly used model of Down syndrome (DS), exhibits several key phenotypic characteristics of this condition. In particular, these animals present hypocellularity in different areas of their CNS due to impaired neurogenesis and have alterations in synaptic plasticity that compromise their cognitive performance. In addition, increases in oxidative stress during adulthood contribute to the age-related progression of cognitive and neuronal deterioration. We have previously demonstrated that chronic melatonin treatment improves learning and memory and reduces cholinergic neurodegeneration in TS mice. However, the molecular and physiological mechanisms that mediate these beneficial cognitive effects are not yet fully understood. In this study, we analyzed the effects of chronic melatonin treatment on different mechanisms that have been proposed to underlie the cognitive impairments observed in TS mice: reduced neurogenesis, altered synaptic plasticity, enhanced synaptic inhibition and oxidative damage. Chronic melatonin treatment rescued both impaired adult neurogenesis and the decreased density of hippocampal granule cells in trisomic mice. In addition, melatonin administration reduced synaptic inhibition in TS mice by increasing the density and/or activity of glutamatergic synapses in the hippocampus. These effects were accompanied by a full recovery of hippocampal LTP in trisomic animals. Finally, melatonin treatment decreased the levels of lipid peroxidation in the hippocampus of TS mice. These results indicate that the cognitive-enhancing effects of melatonin in adult TS mice could be mediated by the normalization of their electrophysiological and neuromorphological abnormalities and suggest that melatonin represents an effective treatment in retarding the progression of DS neuropathology. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation.

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Warsi, Qurratul; Kirby, Caroline; Beg, Mirza

2017-01-01

Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient's TS.
Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

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Qurratul Warsi

2017-03-01

Full Text Available Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.
Lipopolysaccharide aggravated DOI-induced Tourette syndrome: elaboration for recurrence of Tourette syndrome.

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Hongyan, Long; Zhenyang, Si; Chunyan, Wang; Qingqing, Pan

2017-12-01

Tourette syndrome (TS) is a neurological disorder characterized by highest familial recurrence rate among neuropsychiatric diseases with complicated inheritance. Recurrence of Tourette syndrome was frequently observed in clinical. Unexpectedly, the mechanism of recurrence of Tourette syndrome was failure to elucidate. Here, we first shown that lipopolysaccharide(LPS) may played an important role in the recurrence of Tourette syndrome. The TS model in rats was induced by DOI (the selective 5-HT2A/2C agonist 1-(2, 5-dimethoxy-4-iodophenyl) -2- aminopropane). The rats were randomly divided into 4 groups:(1)Control;(2) Control + LPS; (2)TS; (3)TS + LPS. The results demonstrated that the LPS treatment significantly increased stereotypic score and autonomic activity. LPS treatment also significantly increased inflammatory cytokines such as interleukin-6 (IL-6), interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) in serum and striatum. Also, highly expressed TLR4, MyD88, P-NF-κBp65, P-IκBα in TS rats were increased respectively by LPS treatment as indicted in western blot analysis and immunohistochemistry analysis. Thus, it was supposed that lipopolysaccharide(LPS) may played an important role in the recurrence of Tourette syndrome and its mechanism was related to TLR/NF-κB pathway.
Delayed presentation of turner syndrome: Challenge to optimal management

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Uma Kaimal Saikia

2017-01-01

Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.
Tourette syndrome and learning disabilities

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Klug Marilyn G

2005-09-01

Full Text Available Abstract Background Tourette Syndrome (TS is a neurodevelopmental disorder of childhood. Learning disabilities are frequently comorbid with TS. Using the largest sample of TS patients ever reported, we sought to identify differences between subjects with TS only and subjects with TS and a comorbid learning disability. Methods We used the Tourette Syndrome International Consortium database (TIC to compare subjects with comorbid Tourette Syndrome and learning disabilities (TS + LD to subjects who did not have a comorbid learning disability (TS - LD. The TIC database contained 5,500 subjects. We had usable data on 5,450 subjects. Results We found 1,235 subjects with TS + LD. Significant differences between the TS + LD group and the TS - LD group were found for gender (.001, age onset (.030, age first seen (.001, age at diagnosis (.001, prenatal problems (.001, sibling or other family member with tics (.024, two or more affected family members (.009, and severe tics (.046. We used logistic modeling to identify the optimal prediction model of group membership. This resulted in a five variable model with the epidemiologic performance characteristics of accuracy 65.2% (model correctly classified 4,406 of 5,450 subjects, sensitivity 66.1%, and specificity 62.2%. Conclusion Subjects with TS have high prevalence rates of comorbid learning disabilities. We identified phenotype differences between the TS - LD group compared to TS + LD group. In the evaluation of subjects with TS, the presence of a learning disability should always be a consideration. ADHD may be an important comorbid condition in the diagnosis of LD or may also be a potential confounder. Further research on etiology, course and response to intervention for subjects with TS only and TS with learning disabilities is needed.
Rapid Presentation of Emotional Expressions Reveals New Emotional Impairments in Tourette’s Syndrome

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Martial eMermillod

2013-04-01

Full Text Available Objective:Based on a variety of empirical evidence obtained within the theoretical framework of embodiment theory, we considered it likely that motor disorders in Tourette’s syndrome (TS would have emotional consequences for TS patients. However, previous research using emotional facial categorization tasks suggests that these consequences are limited to TS patients with obsessive-compulsive behaviors(OCB.Method:These studies used long stimulus presentations which allowed the participants to categorize the different emotional facial expressions (EFEs on the basis of a perceptual analysis that might potentially hide a lack of emotional feeling for certain emotions. In order to reduce this perceptual bias, we used a rapid visual presentation procedure.Results:Using this new experimental method, we revealed different and surprising impairments on several EFEs in TS patients compared to matched healthy control participants. Moreover, a spatial frequency analysis of the visual signal processed by the patients suggests that these impairments may be located at a cortical level.Conclusions:The current study indicates that the rapid visual presentation paradigm makes it possible to identify various potential emotional disorders that were not revealed by the standard visual presentation procedures previously reported in the literature. Moreover, the spatial frequency analysis performed in our study suggests that emotional deficit in TS might lie at the level of temporal cortical areas dedicated to the processing of HSF visual information.
Increased prevalence of autoimmunity in Turner syndrome

DEFF Research Database (Denmark)

Mortensen, K H; Cleemann, L; Hjerrild, B E

2009-01-01

and karyotype. In conclusion, TS girls and women face a high prevalence of autoimmunity and associated disease with a preponderance towards hypothyroidism and CD. Thus, health care providers dealing with this patient group should be observant and test liberally for these conditions even before clinical symptoms......Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated...... hypothyroid. Overall, 18% (19) presented with CD autoantibodies, of whom 26% (five) had CD. Anti-TPO and CD autoantibodies co-existed in 9% (10). Immunoglobulin A deficiency was found in 3% (three) of patients, who all had CD autoantibodies without disease. Among four patients with anti-GAD-65 none had T1DM...
Combined Treatment With Environmental Enrichment and (-)-Epigallocatechin-3-Gallate Ameliorates Learning Deficits and Hippocampal Alterations in a Mouse Model of Down Syndrome.

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Catuara-Solarz, Silvina; Espinosa-Carrasco, Jose; Erb, Ionas; Langohr, Klaus; Gonzalez, Juan Ramon; Notredame, Cedric; Dierssen, Mara

2016-01-01

Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, we have demonstrated beneficial effects of a combined treatment with green tea extract containing (-)-epigallocatechin-3-gallate (EGCG) and cognitive stimulation in young adult DS individuals. Although we could reproduce the cognitive-enhancing effects in mouse models, the underlying mechanisms of these beneficial effects are unknown. Here, we explored the effects of a combined therapy with environmental enrichment (EE) and EGCG in the Ts65Dn mouse model of DS at young age. Our results show that combined EE-EGCG treatment improved corticohippocampal-dependent learning and memory. Cognitive improvements were accompanied by a rescue of cornu ammonis 1 (CA1) dendritic spine density and a normalization of the proportion of excitatory and inhibitory synaptic markers in CA1 and dentate gyrus.
Chiari I malformation associated with turner syndrome

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Kamble Jayaprakash Harsha

2017-01-01

Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.
Spectroscopic Classification of ASASSN-13dn

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Martini, P.; Elias, J.; Points, S.; Prieto, J. L.; Shappee, B. J.; Stanek, K. Z.; Kochanek, C. S.; Holoien, T. W.-S.; Jencson, J.; Basu, U.; Beacom, J. F.; Szczygiel, D.; Pojmanski, G.; Brimacombe, J.; Bersier, D.

2013-12-01

We obtained optical spectra of ASASSN-13dn (ATel #5665). The candidate was confirmed with the new KOSMOS instrument (Kitt Peak Ohio State Multi-Object Spectrograph), which is presently being commissioned at the KPNO 4-m Mayall telescope. Observations were obtained with both the blue and red VPH grisms (50 min each) for a combined wavelength range of 380nm to 965nm at R ~ 2000. The spectrum of ASASSN-13dn is characteristic of a Type II SN at the redshift of its host galaxy (z=0.023).

A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody

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Chandra Mohan Sharma

2016-01-01

Full Text Available Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes , limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies.Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome,cerebellar ataxia and palatal myoclonus.This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.
DYRK1A-mediated Cyclin D1 Degradation in Neural Stem Cells Contributes to the Neurogenic Cortical Defects in Down Syndrome

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Sònia Najas

2015-02-01

Full Text Available Alterations in cerebral cortex connectivity lead to intellectual disability and in Down syndrome, this is associated with a deficit in cortical neurons that arises during prenatal development. However, the pathogenic mechanisms that cause this deficit have not yet been defined. Here we show that the human DYRK1A kinase on chromosome 21 tightly regulates the nuclear levels of Cyclin D1 in embryonic cortical stem (radial glia cells, and that a modest increase in DYRK1A protein in transgenic embryos lengthens the G1 phase in these progenitors. These alterations promote asymmetric proliferative divisions at the expense of neurogenic divisions, producing a deficit in cortical projection neurons that persists in postnatal stages. Moreover, radial glial progenitors in the Ts65Dn mouse model of Down syndrome have less Cyclin D1, and Dyrk1a is the triplicated gene that causes both early cortical neurogenic defects and decreased nuclear Cyclin D1 levels in this model. These data provide insights into the mechanisms that couple cell cycle regulation and neuron production in cortical neural stem cells, emphasizing that the deleterious effect of DYRK1A triplication in the formation of the cerebral cortex begins at the onset of neurogenesis, which is relevant to the search for early therapeutic interventions in Down syndrome.
Overexpression of Dyrk1A is implicated in several cognitive, electrophysiological and neuromorphological alterations found in a mouse model of Down syndrome.

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Susana García-Cerro

Full Text Available Down syndrome (DS phenotypes result from the overexpression of several dosage-sensitive genes. The DYRK1A (dual-specificity tyrosine-(Y-phosphorylation regulated kinase 1A gene, which has been implicated in the behavioral and neuronal alterations that are characteristic of DS, plays a role in neuronal progenitor proliferation, neuronal differentiation and long-term potentiation (LTP mechanisms that contribute to the cognitive deficits found in DS. The purpose of this study was to evaluate the effect of Dyrk1A overexpression on the behavioral and cognitive alterations in the Ts65Dn (TS mouse model, which is the most commonly utilized mouse model of DS, as well as on several neuromorphological and electrophysiological properties proposed to underlie these deficits. In this study, we analyzed the phenotypic differences in the progeny obtained from crosses of TS females and heterozygous Dyrk1A (+/- male mice. Our results revealed that normalization of the Dyrk1A copy number in TS mice improved working and reference memory based on the Morris water maze and contextual conditioning based on the fear conditioning test and rescued hippocampal LTP. Concomitant with these functional improvements, normalization of the Dyrk1A expression level in TS mice restored the proliferation and differentiation of hippocampal cells in the adult dentate gyrus (DG and the density of GABAergic and glutamatergic synapse markers in the molecular layer of the hippocampus. However, normalization of the Dyrk1A gene dosage did not affect other structural (e.g., the density of mature hippocampal granule cells, the DG volume and the subgranular zone area or behavioral (i.e., hyperactivity/attention alterations found in the TS mouse. These results suggest that Dyrk1A overexpression is involved in some of the cognitive, electrophysiological and neuromorphological alterations, but not in the structural alterations found in DS, and suggest that pharmacological strategies targeting
A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

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Christina E. Brzezniak

2017-04-01

Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.
Mondini deformity in a case of Turner syndrome. A radiological finding.

Science.gov (United States)

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

2012-01-01

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.
Handwriting Tics in Tourette’s Syndrome: A Single Center Study

OpenAIRE

Zanaboni Dina, Carlotta; Bona, Alberto R.; Zekaj, Edvin; Servello, Domenico; Porta, Mauro

2016-01-01

Tourette’s syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic (1), beginning in childhood or in adolescence. More recently, Tourette’s syndrome has been acknowledged as a broad spectrum syndrome (2), including different comorbidities and coexisting symptoms. When beginning in early childhood TS mainly presents with attention deficit and hyperactivity disorder (ADHD) and tics, when beginning in adolescence instead tics and obsessi...
Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic.

Science.gov (United States)

Vincent, A J; Nguyen, H H; Ranasinha, S; Vollenhoven, B

2017-10-01

Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis. Median age at TS diagnosis was 14 years (range 0-65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16-65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44-76%) and those with positive screening diagnoses (5-53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea. A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.
Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

DEFF Research Database (Denmark)

Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

2015-01-01

BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...
Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

OpenAIRE

Qurratul Warsi; Caroline Kirby; Mirza Beg

2017-01-01

Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include orophar...
Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

Science.gov (United States)

Paolucci, Denise Gruccio; Bamba, Vaneeta

2017-06-01

Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.
Alterations to dendritic spine morphology, but not dendrite patterning, of cortical projection neurons in Tc1 and Ts1Rhr mouse models of Down syndrome.

Directory of Open Access Journals (Sweden)

Matilda A Haas

Full Text Available Down Syndrome (DS is a highly prevalent developmental disorder, affecting 1/700 births. Intellectual disability, which affects learning and memory, is present in all cases and is reflected by below average IQ. We sought to determine whether defective morphology and connectivity in neurons of the cerebral cortex may underlie the cognitive deficits that have been described in two mouse models of DS, the Tc1 and Ts1Rhr mouse lines. We utilised in utero electroporation to label a cohort of future upper layer projection neurons in the cerebral cortex of developing mouse embryos with GFP, and then examined neuronal positioning and morphology in early adulthood, which revealed no alterations in cortical layer position or morphology in either Tc1 or Ts1Rhr mouse cortex. The number of dendrites, as well as dendrite length and branching was normal in both DS models, compared with wildtype controls. The sites of projection neuron synaptic inputs, dendritic spines, were analysed in Tc1 and Ts1Rhr cortex at three weeks and three months after birth, and significant changes in spine morphology were observed in both mouse lines. Ts1Rhr mice had significantly fewer thin spines at three weeks of age. At three months of age Tc1 mice had significantly fewer mushroom spines--the morphology associated with established synaptic inputs and learning and memory. The decrease in mushroom spines was accompanied by a significant increase in the number of stubby spines. This data suggests that dendritic spine abnormalities may be a more important contributor to cognitive deficits in DS models, rather than overall neuronal architecture defects.
Degradative capacities and bioaugmentation potential of an anaerobic benzene-degrading bacterium strain DN11

Energy Technology Data Exchange (ETDEWEB)

Yuki Kasai; Yumiko Kodama; Yoh Takahata; Toshihiro Hoaki; Kazuya Watanabe [Marine Biotechnology Institute, Kamaishi (Japan)

2007-09-15

Azoarcus sp. strain DN11 is a denitrifying bacterium capable of benzene degradation under anaerobic conditions. The present study evaluated strain DN11 for its application to bioaugmentation of benzene-contaminated underground aquifers. Strain DN11 could grow on benzene, toluene, m-xylene, and benzoate as the sole carbon and energy sources under nitrate-reducing conditions, although o- and p-xylenes were transformed in the presence of toluene. Phenol was not utilized under anaerobic conditions. Kinetic analysis of anaerobic benzene degradation estimated its apparent affinity and inhibition constants to be 0.82 and 11 {mu}M, respectively. Benzene-contaminated groundwater taken from a former coal-distillation plant site in Aichi, Japan was anaerobically incubated in laboratory bottles and supplemented with either inorganic nutrients (nitrogen, phosphorus, and nitrate) alone, or the nutrients plus strain DN11, showing that benzene was significantly degraded only when DN11 was introduced. Denaturing gradient gel electrophoresis of PCR-amplified 16S rRNA gene fragments, and quantitative PCR revealed that DN11 decreased after benzene was degraded. Following the decrease in DN11 16S rRNA gene fragments corresponding to bacteria related to Owenweeksia hongkongensis and Pelotomaculum isophthalicum, appeared as strong bands, suggesting possible metabolic interactions in anaerobic benzene degradation. Results suggest that DN11 is potentially useful for degrading benzene that contaminates underground aquifers at relatively low concentrations. 50 refs., 6 figs., 1 tab.
Treating Tourette Syndrome and Tic Disorders: A Guide for Practitioners

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Woods, Douglas W., Ed.; Piacentini, John C., Ed.; Walkup, John T., Ed

2007-01-01

Grounded in a comprehensive model of Tourette syndrome (TS) and related disorders, this state-of-the-art volume provides a multidisciplinary framework for assessment and treatment. Leading authorities present the latest knowledge on the neurobehavioral underpinnings of TS, its clinical presentation, and how to distinguish it from frequently…
The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

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Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

2015-07-01

Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.
Tourette Syndrome and Stigma: A Place from Which Parents Advocate. Special Project in Sociology/Anthropology.

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Jeffery, Kelly

This paper presents a historical background and definition of Tourette Syndrome (TS), a review of the literature, and a view of the TS person as stigmatized in society. Social processes are examined through the eyes of the TS individual, and the impact of education on the TS person is examined. TS is viewed as the presence of motor or vocal tics,…
Handwriting Tics in Tourette's Syndrome: A Single Center Study.

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Zanaboni Dina, Carlotta; Bona, Alberto R; Zekaj, Edvin; Servello, Domenico; Porta, Mauro

2016-01-01

Tourette's syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic, beginning in childhood or in adolescence. Handwriting is one of the most impaired school activities for TS patients because of the presence of tics that hamper learning processes. In this paper, we present a case of handwriting tics in a TS patient highlighting the main features.
Handwriting tics in Tourette’s syndrome: a single center study.

Directory of Open Access Journals (Sweden)

Carlotta eZanaboni Dina

2016-02-01

Full Text Available Tourette’s syndrome (TS is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic (1, beginning in childhood or in adolescence. More recently, Tourette’s syndrome has been acknowledged as a broad spectrum syndrome (2, including different comorbidities and coexisting symptoms. When beginning in early childhood TS mainly presents with attention deficit and hyperactivity disorder (ADHD and tics, when beginning in adolescence instead tics and obsessive-compulsive behavior or disorder (OCB/OCD are predominant. OCB/OCD trait is present in 60-80% of patients (3, and they are considered as thought tics (4. In many cases motor and sound tics resolve spontaneously in adulthood, though OCB/OCD generally remain. Tics often interfere with subject’s daily activities (5 affecting Quality of Life and causing Social Impairment, particularly in schooling and working. Handwriting is one of the most impaired school activity for TS patients because of the tics presence that hamper learning processes.In our clinical experience handwriting tics (HT could severely affect and condition TS subjects, but they are not often pointed out in the Literature. For this reason there are not precise data regarding the incidence of HT neither in Tourette’s syndrome patients nor in healthy population.
Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome

DEFF Research Database (Denmark)

Gravholt, Claus Højbjerg; Hansen, Klavs Würgler; Erlandsen, Mogens

2006-01-01

OBJECTIVE: Increased blood pressure (BP), night: day BP ratio, and heart rate is seen in Turner syndrome (TS), and an increased risk of ischaemic heart disease and type 2 diabetes, as well as aortic dilatation and dissection. We hypothesized that altered heart rate variability is present in TS...
Churg-strauss syndrome: a case report.

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Zhdan, Vyacheslav М; Kitura, Yevdokiia М; Kitura, Oksana Ye; Babanina, Maryna Yu; Tkachenko, Maksym V; Lebid, Volodymyr G

A clinical case of Churg-Strauss syndrome has been reported on the 53-year-old female patient Ts. with bronchial asthma and allergic rhinitis. The main clinical signs and syndromes depending on the stage of the disease are presented, as well as therapeutic treatment of patients with this disease.
Retracted: Association of ACE I/D gene polymorphism with T2DN susceptibility and the risk of T2DM developing into T2DN in a Caucasian population.

Science.gov (United States)

Liu, Guohui; Zhou, Tian-Biao; Jiang, Zongpei; Zheng, Dongwen

2015-03-01

The association of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism with type-2 diabetic nephropathy (T2DN) susceptibility and the risk of type-2 diabetes mellitus (T2DM) developing into T2DN in Caucasian populations is still controversial. A meta-analysis was performed to evaluate the association of ACE I/D gene polymorphism with T2DN susceptibility and the risk of T2DM developing into T2DN in Caucasian populations. A predefined literature search and selection of eligible relevant studies were performed to collect data from electronic databases. Sixteen articles were identified for the analysis of the association of ACE I/D gene polymorphism with T2DN susceptibility and the risk of T2DM developing into T2DN in Caucasian populations. ACE I/D gene polymorphism was not associated with T2DN susceptibility and the risk of patients with T2DM developing T2DN in Caucasian populations. Sensitivity analysis according to sample size of case (ACE I/D gene polymorphism was not associated with T2DN susceptibility and the risk of patients with T2DM developing T2DN in Caucasian populations. However, more studies should be performed in the future. © The Author(s) 2014.

Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome

DEFF Research Database (Denmark)

Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L

2009-01-01

CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations...
Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

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Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

2015-04-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.
The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis Is Different between Initially Euthyroid Girls with and Those without Turner Syndrome.

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Wasniewska, Malgorzata; Salerno, Mariacarolina; Corrias, Andrea; Mazzanti, Laura; Matarazzo, Patrizia; Corica, Domenico; Aversa, Tommaso; Messina, Maria Francesca; De Luca, Filippo; Valenzise, Mariella

2016-01-01

To prospectively investigate, during a 5-year follow-up, whether the prognosis of thyroid function with Hashimoto thyroiditis (HT) is different in euthyroid girls with Turner syndrome (TS) than in euthyroid girls without TS. In 66 TS girls and 132 non-TS girls with euthyroid HT and similar thyroid functional test results at HT diagnosis, we followed up the evolution of thyroid status over time. At the end of follow-up, the TS girls exhibited higher TSH levels, lower fT4 levels, and lower prevalence rates of both euthyroidism and subclinical hypothyroidism, but higher prevalence rates of both overt hypothyroidism and hyperthyroidism, irrespective of the karyotype. An association with TS is able to impair the long-term prognosis of thyroid function in girls with HT. Such an effect occurs irrespective of thyroid functional test results at HT diagnosis and is not necessarily linked with a specific karyotype. © 2016 S. Karger AG, Basel.
Increasing the Effectiveness of Education for Students with Tourette Syndrome.

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Wilson, Jeni; Shrimpton, Bradley

This paper examines the educational implications for students with Tourette syndrome (TS) and outlines a multi-dimensional approach for improving their education. It presents data from two qualitative studies in Australia. TS is a debilitating neurological disorder that causes involuntary vocal and motor tics. The first study investigated the…
Perturbed sympatho-vagal balance in Turner syndrome - relation to aortic dilation

DEFF Research Database (Denmark)

Trolle, Christian; Mortensen, Kristian Havmand; Andersen, Niels Holmark

Objective: The risk of aortic dissection is 100 fold increased in Turner syndrome (TS). Increased blood pressure (BP) and heart rate is present as well as an increased risk of ischemic heart disease and diabetes. This study aimed to prospectively assess heart rate variability (HRV) in TS and its...... relation to aortic dimensions. Methods: Adults with TS (n=91, aged 37.4±10.4 years) recruited through the Danish National Society of Turner Syndrome Contact Group and an endocrine outpatient clinic were examined thrice (mean follow-up of 4.7±0.5 years). Healthy controls (n=64, aged 39.4±12.1 years) were...
Atypical presentations of Wolframs syndrome

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S Saran

2012-01-01

Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.
A Comparison of Tropical Storm (TS) and Non-TS Gust Factors for Assessing Peak Wind Probabilities at the Eastern Range

Science.gov (United States)

Merceret, Francis J.; Crawford, Winifred C.

2010-01-01

Peak wind speed is an important forecast element to ensure the safety of personnel and flight hardware at Kennedy Space Center (KSC) and the Cape Canaveral Air Force Station (CCAFS) in East-Central Florida. The 45th Weather Squadron (45 WS), the organization that issues forecasts for the KSC/CCAFS area, finds that peak winds are more difficult to forecast than mean winds. This difficulty motivated the 45 WS to request two independent studies. The first (Merceret 2009) was the development of a reliable model for gust factors (GF) relating the peak to the mean wind speed in tropical storms (TS). The second (Lambert et al. 2008) was a climatological study of non-TS cool season (October-April) mean and peak wind speeds by the Applied Meteorology Unit (AMU; Bauman et al. 2004) without the use of GF. Both studies presented their statistics as functions of mean wind speed and height. Most of the few comparisons of TS and non-TS GF in the literature suggest that non-TS GF at a given height and mean wind speed are smaller than the corresponding TS GF. The investigation reported here converted the non-TS peak wind statistics calculated by the AMU to the equivalent GF statistics and compared them with the previous TS GF results. The advantage of this effort over all previously reported studies of its kind is that the TS and non-TS data were taken from the same towers in the same locations. This eliminates differing surface attributes, including roughness length and thermal properties, as a major source of variance in the comparison. The goal of this study is two-fold: to determine the relationship between the non-TS and TS GF and their standard deviations (GFSD) and to determine if models similar to those developed for TS data in Merceret (2009) could be developed for the non-TS environment. The results are consistent with the literature, but include much more detailed, quantitative information on the nature of the relationship between TS and non-TS GF and GFSD as a function
Progress in research on Tourette syndrome

Science.gov (United States)

Black, Kevin J.; Jankovic, Joseph; Hershey, Tamara; McNaught, Kevin St. P.; Mink, Jonathan W.; Walkup, John

2014-01-01

Tourette syndrome (TS) is a heritable neuropsychiatric disorder commonly complicated by obsessions and compulsions, but defined by frequent unwanted movements (motor tics) and vocalizations (phonic tics) that develop in childhood or adolescence. In recent years, research on TS has progressed rapidly on several fronts. Inspired by the Fifth International Scientific Symposium on Tourette Syndrome, the articles in this special issue review advances in the phenomenology, epidemiology, genetics, pathophysiology, and treatment of TS. PMID:25436182
Go/NoGo performance in boys with Tourette syndrome

DEFF Research Database (Denmark)

Eichele, Heike; Eichele, Tom; Hammar, Asa

2010-01-01

This study compared performance and performance monitoring in 19 boys with Tourette syndrome (TS) (12.64 years, +/- 2.05) and 19 age-matched controls (13.16 years, +/- 2.29) using a Go/NoGo task. The results indicated similar performance accuracy in the TS group and the control group. TS particip......This study compared performance and performance monitoring in 19 boys with Tourette syndrome (TS) (12.64 years, +/- 2.05) and 19 age-matched controls (13.16 years, +/- 2.29) using a Go/NoGo task. The results indicated similar performance accuracy in the TS group and the control group. TS...
Maternal Choline Supplementation: A Potential Prenatal Treatment for Down Syndrome and Alzheimer's Disease.

Science.gov (United States)

Strupp, Barbara J; Powers, Brian E; Velazquez, Ramon; Ash, Jessica A; Kelley, Christy M; Alldred, Melissa J; Strawderman, Myla; Caudill, Marie A; Mufson, Elliott J; Ginsberg, Stephen D

2016-01-01

Although Down syndrome (DS) can be diagnosed prenatally, currently there are no effective treatments to lessen the intellectual disability (ID) which is a hallmark of this disorder. Furthermore, starting as early as the third decade of life, DS individuals exhibit the neuropathological hallmarks of Alzheimer's disease (AD) with subsequent dementia, adding substantial emotional and financial burden to their families and society at large. A potential therapeutic strategy emerging from the study of trisomic mouse models of DS is to supplement the maternal diet with additional choline during pregnancy and lactation. Studies demonstrate that maternal choline supplementation (MCS) markedly improves spatial cognition and attentional function, as well as normalizes adult hippocampal neurogenesis and offers protection to basal forebrain cholinergic neurons (BFCNs) in the Ts65Dn mouse model of DS. These effects on neurogenesis and BFCNs correlate significantly with spatial cognition, suggesting functional relationships. In this review, we highlight some of these provocative findings, which suggest that supplementing the maternal diet with additional choline may serve as an effective and safe prenatal strategy for improving cognitive, affective, and neural functioning in DS. In light of growing evidence that all pregnancies would benefit from increased maternal choline intake, this type of recommendation could be given to all pregnant women, thereby providing a very early intervention for individuals with DS, and include babies born to mothers unaware that they are carrying a fetus with DS.
From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research

Science.gov (United States)

Pagliaroli, Luca; Vető, Borbála; Arányi, Tamás; Barta, Csaba

2016-01-01

Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder marked by the appearance of multiple involuntary motor and vocal tics. TS presents high comorbidity rates with other disorders such as attention deficit hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). TS is highly heritable and has a complex polygenic background. However, environmental factors also play a role in the manifestation of symptoms. Different epigenetic mechanisms may represent the link between these two causalities. Epigenetic regulation has been shown to have an impact in the development of many neuropsychiatric disorders, however very little is known about its effects on Tourette Syndrome. This review provides a summary of the recent findings in genetic background of TS, followed by an overview on different epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs in the regulation of gene expression. Epigenetic studies in other neurological and psychiatric disorders are discussed along with the TS-related epigenetic findings available in the literature to date. Moreover, we are proposing that some general epigenetic mechanisms seen in other neuropsychiatric disorders may also play a role in the pathogenesis of TS. PMID:27462201
Tourette Syndrome: Classroom Implications

Science.gov (United States)

Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

2011-01-01

Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…
Leaching of DOC, DN, and inorganic constituents from scrap tires.

Science.gov (United States)

Selbes, Meric; Yilmaz, Ozge; Khan, Abdul A; Karanfil, Tanju

2015-11-01

One concern for recycle and reuse of scrap tires is the leaching of tire constituents (organic and inorganic) with time, and their subsequent potential harmful impacts in environment. The main objective of this study was to examine the leaching of dissolved organic carbon (DOC), dissolved nitrogen (DN), and selected inorganic constituents from scrap tires. Different sizes of tire chips and crumb rubber were exposed to leaching solutions with pH's ranging from 3.0 to 10.0 for 28days. The leaching of DOC and DN were found to be higher for smaller size tire chips; however, the leaching of inorganic constituents was independent of the size. In general, basic pH conditions increased the leaching of DOC and DN, whereas acidic pH conditions led to elevated concentrations of metals. Leaching was minimal around the neutral pH values for all the monitored parameters. Analysis of the leaching rates showed that components associated with the rubbery portion of the tires (DOC, DN, zinc, calcium, magnesium, etc.) exhibited an initial rapid followed by a slow release. On the other hand, a constant rate of leaching was observed for iron and manganese, which are attributed to the metal wires present inside the tires. Although the total amounts that leached varied, the observed leaching rates were similar for all tire chip sizes and leaching solutions. Operation under neutral pH conditions, use of larger size tire chips, prewashing of tires, and removal of metal wires prior to application will reduce the impact of tire recycle and reuse. Copyright © 2015 Elsevier Ltd. All rights reserved.
TS-EUROTRAIN: A European-wide investigation and training network on the aetiology and pathophysiology of Gilles de la Tourette Syndrome

Directory of Open Access Journals (Sweden)

Natalie J Forde

2016-08-01

Full Text Available Gilles de la Tourette Syndrome (GTS is characterised by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD and obsessive-compulsive disorder (OCD, thus providing an excellent model for the exploration of shared aetiology across disorders. TS-EUROTRAIN (FP7-PEOPLE-2012-ITN, Grant Agr.No.316978 is a Marie Curie Initial Training Network (http://ts-eurotrain.eu that aims to elucidate the complex aetiology of the onset and clinical course of GTS, investigate the neurobiological underpinnings of GTS and related disorders, translate research findings into clinical applications and establish a pan-European infrastructure for the study of GTS. This includes the challenges of (i assembling a large genetic database for the evaluation of the genetic architecture with high statistical power; (ii exploring the role of gene-environment interactions including the effects of epigenetic phenomena; (iii employing endophenotype-based approaches to understand the shared aetiology between GTS, OCD and ADHD; (iv establishing a developmental animal model for GTS; (v gaining new insights into the neurobiological mechanisms of GTS via cross-sectional and longitudinal neuroimaging studies; and (vi partaking in outreach activities including the dissemination of scientific knowledge about GTS to the public. Fifteen partners from academia and industry and twelve PhD candidates pursue the project. Our ultimate aims are to elucidate the complex aetiology and neurobiological underpinnings of GTS, translate research findings into clinical applications and establish Pan-European infrastructure for the study of GTS and associated disorders.
[Recognition and management of Tourette syndrome].

Science.gov (United States)

Chao, Kuo-Yu; Wang, Huei-Shyong; See, Lai-Chu

2009-10-01

Tourette syndrome (TS) is a chronic tic disorder that occurs in childhood. Children with TS may have multiple tic incidents during a day, even many times per minute. Such sudden, rapid and short utterings or movements may influence sufferers' ability to perform daily activities and present barriers to normal interaction with others. Anger, depression and low self-esteem are commonly seen in many children with TS. Awareness of TS is not great in Taiwan, and so many pediatric patients fail to obtain an early diagnosis and / or are mistreated or punished due to disorder-related behaviors. Such results in elevated physical, psychological and social stresses for sufferers. In this paper, we briefly introduce TS symptoms, diagnosis, classification, prognosis, co-morbidity, related psycho-social stresses, and common treatments. In order to facilitate the effective management of TS, we provide suggestion for patient families and schools as well as recommendations on how to interact effectively with others. We hope this article is helpful for healthcare workers, patients, families and schools to improve the recognition and management of TS.
Resting energy expenditure in girls with Turner syndrome.

Science.gov (United States)

Binder, Gerhard; Frank, Laura; Ziegler, Julian; Blumenstock, Gunnar; Schweizer, Roland

2017-03-01

Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls. We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were -2.90 (TS), -3.32 (GHD), -3.69 (SGA) and -0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA). At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups. At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.
A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

International Nuclear Information System (INIS)

Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk; Evlice, Ahmet

2013-01-01

Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.
A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

Energy Technology Data Exchange (ETDEWEB)

Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk [Faculty of Dentistry, Cukurova University, Adana (Turkey); Evlice, Ahmet [Faculty of Medicine, Cukurova University, Adana (Turkey)

2013-06-15

Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.
Tourette's syndrome in famous musicians

Directory of Open Access Journals (Sweden)

Carlos Henrique F. Camargo

2015-01-01

Full Text Available Tourette's syndrome (TS is defined as a disorder characterized by multiple motor tics and at least one vocal tic that have lasted for not less than one year. It is a relatively complex neurobehavioral disorder, in which patients may present with coexistent attention deficit hyperactivity disorder, obsessive-compulsive disorder or other behavioral comorbidities. The musical genius Wolfgang Amadeus Mozart (1756-1791 and the rock star Kurt Cobain (1967-1994 may both have suffered from TS, and some contemporary musicians have had their clinical condition confirmed as TS. Our hypothetical diagnosis of TS in Mozart and Cobain is based on the presence of tics and psychiatric comorbidities. In contemporary musicians, such as Michael Wolff, Nick Van Bloss and James Durbin, TS has often only been diagnosed after a considerable delay. This delay in diagnosis and the controversies surrounding the clinical case of Mozart show how difficult a confirmatory diagnosis of this complex disease is.
Social Cognition in Tourette's Syndrome: Intact Theory of Mind and Impaired Inhibitory Functioning

Science.gov (United States)

Channon, Shelley; Sinclair, Elizabeth; Waller, Denise; Healey, Louise; Robertson, Mary M.

2004-01-01

Although associations between social cognition involving theory of mind and non-social executive skills have frequently been reported, dissociations in performance have also been found. The present study was designed to examine social and non-social cognition in uncomplicated Tourette Syndrome (TS). Adult TS participants without comorbid diagnoses…

Unusual presentation of Klinefelter syndrome

Science.gov (United States)

Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

2013-01-01

Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838
A Case of Turner Syndrome with Multiple Embolic Infarcts

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Cindy W. Yoon

2016-09-01

Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.
TS-1 and TS-2 transient overpower tests on FFTF fuel

International Nuclear Information System (INIS)

Pitner, A.L.; Ferrell, P.C.; Culley, G.E.; Weber, E.T.

1985-01-01

The TS-1 and TS-2 TREAT transient experiments subjected a low burnup (2 MWd/kg) and a medium burnup (58 MWd/kg), respectively, FFTF irradiated fuel pin to unprotected 5 cents/s overpower transient conditions. The fuel pin failure response was similar in the two tests, which demonstrated a large margin to failure (P/P 0 > 3) and a favorable upper level failure location. Thus, for these transient conditions, burnup effects on transient performance appeared to be minimal in the range tested. Pin disruption in the medium burnup TS-2 test was more severe due to the higher fission gas pressurization, but failure occurred at only a 5% lower power level than for the low burnup TS-1 fuel pin. Both tests exhibited axial extrusion of molten fuel to the region above the fuel column several seconds before pin failure, demonstrating a potentially beneficial inherent safety mechanism to delay failure and mitigate accident consequences
Turner Syndrome (For Teens)

Science.gov (United States)

... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...
Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

International Nuclear Information System (INIS)

Y-Hassan, Shams

2016-01-01

Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings
Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

Energy Technology Data Exchange (ETDEWEB)

Y-Hassan, Shams, E-mail: shams.younis-hassan@karolinska.se

2016-10-15

Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings
Metabolic syndrome presenting as abdominal pain

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Mohammed Y Al-Dossary

2017-01-01

Full Text Available Metabolic syndrome represents a sum of risk factors that lead to the occurrence of cardiovascular and cerebrovascular events. The early detection of metabolic syndrome is extremely important in adults who are at risk. Although the physiopathological mechanisms of the metabolic syndrome are not yet clear, insulin resistance plays a key role that could explain the development of type 2 diabetes mellitus in untreated metabolic syndrome patients. Here, we present the case of a 26-year-old male who was diagnosed with metabolic syndrome and severe hypertriglyceridemia after presenting with abdominal pain. Although hypertriglyceridemia and hyperglycemia are the most common predictors of metabolic syndrome, clinicians need to be vigilant for unexpected presentations in patients at risk for metabolic syndrome. This case sheds light on the importance of early detection.
The curious case of SN 2011dn: A very peculiar type Ia supernova?

Science.gov (United States)

Rachubo, Alisa

Type Ia supernovae (SNe Ia) are excellent cosmological distance indicators due to the uniformity in their light curves, which led to the major discovery of the accelerated expansion of the universe. However, SNe Ia are not so uniform as one may expect, as there are many peculiar SNe Ia that exhibit differences in their photometric and spectroscopic behavior from normal SNe Ia. One of the goals of supernova cosmology today is to produce a cleaner sample of SNe Ia without these peculiar SNe Ia. Here we consider SN 2011dn, a peculiar SN Ia candidate. In 2011, Salvo, et al. carried out a preliminary analysis of a subset of the data prescribed here, and identified spectral and photometric peculiarities in this object's evolution that warranted further analysis. Here, we present a complete re-reduction and reanalysis of B, V,R, and I photometry of SN 2011dn obtained at Mount Laguna Observatory, spanning from 7 days before maximum light in B to 88 days past maximum light. In addition, we also consider total flux spectra from 9 days before maximum light to 4 days after maximum light, along with ultraviolet (UV) photometry obtained with the Swift telescope. From SN 2011dn's optical spectra, we find that SN 2011dn most closely resembles a SN 1991T-like type Ia supernova ('91T-like SN Ia). Such SNe Ia are typically more luminous than normal SNe Ia, and possess broader (i.e., they decline less rapidly than normal from maximum light) light curves. Their Deltam15(B) (drop in B magnitude 15 days after maximum light) are typically significantly less than the canonical value of 1.1, and can be as low as 0.8. In the earlier preliminary analysis, Salvo et al. measured a surprisingly high Deltam15(B) value for SN 2011dn, of ˜ 1.1. Since SN 2011dn was embedded in UGC 11501 (its host galaxy), however, it is possible that some of the light from the host galaxy was included in the photometric aperture, resulting in inaccurate photometric measurements. Here, in order to better isolate the
The portrayal of Tourette Syndrome in film and television.

Science.gov (United States)

Calder-Sprackman, Samantha; Sutherland, Stephanie; Doja, Asif

2014-03-01

To determine the representation of Tourette Syndrome (TS) in fictional movies and television programs by investigating recurrent themes and depictions. Television and film can be a source of information and misinformation about medical disorders. Tourette Syndrome has received attention in the popular media, but no studies have been done on the accuracy of the depiction of the disorder. International internet movie databases were searched using the terms "Tourette's", "Tourette's Syndrome", and "tics" to generate all movies, shorts, and television programs featuring a character or scene with TS or a person imitating TS. Using a grounded theory approach, we identified the types of characters, tics, and co-morbidities depicted as well as the overall representation of TS. Thirty-seven television programs and films were reviewed dating from 1976 to 2010. Fictional movies and television shows gave overall misrepresentations of TS. Coprolalia was overrepresented as a tic manifestation, characters were depicted having autism spectrum disorder symptoms rather than TS, and physicians were portrayed as unsympathetic and only focusing on medical therapies. School and family relationships were frequently depicted as being negatively impacted by TS, leading to poor quality of life. Film and television are easily accessible resources for patients and the public that may influence their beliefs about TS. Physicians should be aware that TS is often inaccurately represented in television programs and film and acknowledge misrepresentations in order to counsel patients accordingly.
Are there distinct subtypes in Tourette syndrome? Pure-Tourette syndrome versus Tourette syndrome-plus, and simple versus complex tics

Directory of Open Access Journals (Sweden)

Eapen V

2015-06-01

Full Text Available Valsamma Eapen,1,2 Mary M Robertson3,41School of Psychiatry, University of New South Wales, Sydney, NSW, Australia; 2Academic Unit of Child Psychiatry, South Western Sydney Local Health District, Ingham Institute, Liverpool, NSW, Australia; 3Neuropsychiatry, University College London, UK; 4St Georges Hospital and Medical School, London, UKAbstract: This study addressed several questions relating to the core features of Tourette syndrome (TS including in particular coprolalia (involuntary utterance of obscene words and copropraxia (involuntary and inappropriate rude gesturing. A cohort of 400 TS patients was investigated. We observed that coprolalia occurred in 39% of the full cohort of 400 patients and copropraxia occurred in 20% of the cohort. Those with coprolalia had significantly higher Yale Global Tic Severity Scale (YGTSS and Diagnostic Confidence Index (DCI total scores and a significantly higher proportion also experienced copropraxia and echolalia. A subgroup of 222 TS patients with full comorbidity data available were also compared based on whether they had pure-TS (motor and vocal tics only or associated comorbidities and co-existent psychopathologies (TS-plus. Pure-TS and TS-plus groups were compared across a number of characteristics including TS severity, associated clinical features, and family history. In this subgroup, 13.5% had pure-TS, while the remainder had comorbidities and psychopathologies consistent with TS-plus. Thirty-nine percent of the TS-plus group displayed coprolalia, compared to (0% of the pure-TS group and the difference in proportions was statistically significant. The only other significant difference found between the two groups was that pure-TS was associated with no family history of obsessive compulsive disorder which is an interesting finding that may suggest that additional genes or environmental factors may be at play when TS is associated with comorbidities. Finally, differences between individuals
Genetic Susceptibility and Neurotransmitters in Tourette Syndrome

NARCIS (Netherlands)

Paschou, Peristera; Fernandez, Thomas V.; Sharp, Frank; Heiman, Gary A.; Hoekstra, Pieter J.; Martino, D; Cavanna, AE

2013-01-01

Family studies have consistently shown that Tourette syndrome (TS) is a familial disorder and twin studies have clearly indicated a genetic contribution in the etiology of TS. Whereas early segregation studies of TS suggested a single-gene autosomal dominant disorder, later studies have pointed to
DN detection during SLSF tests

International Nuclear Information System (INIS)

Braid, T.H.; Harper, H.A.; Wilson, R.E.; Baldwin, R.D.; Gilbert, D.M.; Baxter, D.E.; Gillins, R.L.; Jeffries, G.L.

1982-01-01

During two tests in the Sodium Loop Safety Facility (W2 and P4), two systems were operated to detect delayed neutrons from exposed fuel. One monitored directly the sodium in the in-pile loop with a transit delay from the flux region of approx.2 seconds; the other conducted a sample stream of sodium to external detectors with a transit delay which could be varied from approx.10 to approx. 40 seconds. Detectors of a wide range of sensitivity were operated in pulse and current mode; DN signals varying from 2 recoil to many grams of molten fuel could be recorded reliably without saturation. During the W2 and P4 tests a continuous DN record was made. Massive fuel failure signals were observed during reactor transients in both tests, including events interpreted as fuel melting and exposure of large areas. The steady signal from the blockage in P4 was studied as a function of reactor power and sodium temperature
A case report of severe panhypopituitarism in a newborn delivered by a women with Turner syndrome.

Science.gov (United States)

Olszewska, Marta; Kiełbasa, Grzegorz; Wójcik, Małgorzata; Zygmunt-Górska, Agata; Starzyk, Jerzy B

2015-01-01

Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.
Phenotype Development in Adolescents With Tourette Syndrome

DEFF Research Database (Denmark)

Groth, Camilla; Debes, Nanette Mol; Skov, Liselotte

2017-01-01

Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents...... followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without...... OCD or ADHD) at baseline and 55% at follow-up.Tic-related impairment was expected to improve with an age-related tic decline, but surprisingly the impairment score did not reflect the tic decline. Sex, vocal and motor tics, and OCD and ADHD severity were highly significantly correlated...
Genetics Home Reference: Tourette syndrome

Science.gov (United States)

... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...
Data of evolutionary structure change: 2QU0A-2DN1B [Confc[Archive

Lifescience Database Archive (English)

Full Text Available >A 2QU0A WGKVGGNAGAYGence> HHHH...2QU0A-2DN1B 2QU0 2DN1 A B VLSAADKSNVKAAWGKVGGNAGAYGAEALERMFLSFPTT...index>0 2DN1 B 2DN1B ...ence>WGKVN--VDEVGence> GGG --HHHHH VAL CA 367 GLY CA 400 2QU0
Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome

DEFF Research Database (Denmark)

Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M

2001-01-01

Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had...... the 45,X karyotype verified by karyotyping. We found no difference in the mean TRFL in the young age group (TS: 7011+/-521 vs C: 7285+/-917 bp, P = 0.3), or in the older age group (TS: 7357+/-573 vs C: 7221+/-621 bp, P = 0.6). In conclusion, our data suggest that Ullrich-Turner syndrome is not associated...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....
Comparative genomic analysis reveals a novel mitochondrial isoform of human rTS protein and unusual phylogenetic distribution of the rTS gene

Directory of Open Access Journals (Sweden)

McGuire John J

2005-09-01

Full Text Available Abstract Background The rTS gene (ENOSF1, first identified in Homo sapiens as a gene complementary to the thymidylate synthase (TYMS mRNA, is known to encode two protein isoforms, rTSα and rTSβ. The rTSβ isoform appears to be an enzyme responsible for the synthesis of signaling molecules involved in the down-regulation of thymidylate synthase, but the exact cellular functions of rTS genes are largely unknown. Results Through comparative genomic sequence analysis, we predicted the existence of a novel protein isoform, rTS, which has a 27 residue longer N-terminus by virtue of utilizing an alternative start codon located upstream of the start codon in rTSβ. We observed that a similar extended N-terminus could be predicted in all rTS genes for which genomic sequences are available and the extended regions are conserved from bacteria to human. Therefore, we reasoned that the protein with the extended N-terminus might represent an ancestral form of the rTS protein. Sequence analysis strongly predicts a mitochondrial signal sequence in the extended N-terminal of human rTSγ, which is absent in rTSβ. We confirmed the existence of rTS in human mitochondria experimentally by demonstrating the presence of both rTSγ and rTSβ proteins in mitochondria isolated by subcellular fractionation. In addition, our comprehensive analysis of rTS orthologous sequences reveals an unusual phylogenetic distribution of this gene, which suggests the occurrence of one or more horizontal gene transfer events. Conclusion The presence of two rTS isoforms in mitochondria suggests that the rTS signaling pathway may be active within mitochondria. Our report also presents an example of identifying novel protein isoforms and for improving gene annotation through comparative genomic analysis.
Comparative genomic analysis reveals a novel mitochondrial isoform of human rTS protein and unusual phylogenetic distribution of the rTS gene

Science.gov (United States)

Liang, Ping; Nair, Jayakumar R; Song, Lei; McGuire, John J; Dolnick, Bruce J

2005-01-01

Background The rTS gene (ENOSF1), first identified in Homo sapiens as a gene complementary to the thymidylate synthase (TYMS) mRNA, is known to encode two protein isoforms, rTSα and rTSβ. The rTSβ isoform appears to be an enzyme responsible for the synthesis of signaling molecules involved in the down-regulation of thymidylate synthase, but the exact cellular functions of rTS genes are largely unknown. Results Through comparative genomic sequence analysis, we predicted the existence of a novel protein isoform, rTS, which has a 27 residue longer N-terminus by virtue of utilizing an alternative start codon located upstream of the start codon in rTSβ. We observed that a similar extended N-terminus could be predicted in all rTS genes for which genomic sequences are available and the extended regions are conserved from bacteria to human. Therefore, we reasoned that the protein with the extended N-terminus might represent an ancestral form of the rTS protein. Sequence analysis strongly predicts a mitochondrial signal sequence in the extended N-terminal of human rTSγ, which is absent in rTSβ. We confirmed the existence of rTS in human mitochondria experimentally by demonstrating the presence of both rTSγ and rTSβ proteins in mitochondria isolated by subcellular fractionation. In addition, our comprehensive analysis of rTS orthologous sequences reveals an unusual phylogenetic distribution of this gene, which suggests the occurrence of one or more horizontal gene transfer events. Conclusion The presence of two rTS isoforms in mitochondria suggests that the rTS signaling pathway may be active within mitochondria. Our report also presents an example of identifying novel protein isoforms and for improving gene annotation through comparative genomic analysis. PMID:16162288
Self-reported emotion regulation in adults with Tourette's syndrome.

Science.gov (United States)

Drury, Helena; Wilkinson, Verity; Robertson, Mary M; Channon, Shelley

2016-11-30

Recent work has reported mild impairments in social and emotional processing in Tourette's syndrome (TS), but deliberate attempts to use specific emotion regulation strategies have not been investigated previously. In the present study, adult participants with TS and no comorbidities (TS-alone) were compared to healthy control participants on several self-report measures assessing habitual use of reappraisal and suppression emotion regulation strategies. There were no group differences on measures of reappraisal, but the TS-alone group reported using suppression more frequently than the control group and this was true across a range of negative emotions. The groups did not differ on symptomatology scores of anxiety or depression, although more frequent use of suppression was associated with higher depressive symptomatology for the TS-alone group only. Further work is needed to examine potential factors that may influence emotion regulation in TS, including increased emotional reactivity or expertise in applying strategies to suppress tic symptoms. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

VISIT-TS: A multimedia tool for population studies on tic disorders [version 2; referees: 2 approved

Directory of Open Access Journals (Sweden)

M. Jonathan Vachon

2016-10-01

Full Text Available Population-based assessment of Tourette syndrome (TS and other tic disorders produces a paradox. On one hand, ideally diagnosis of tic disorders requires expert observation. In fact, diagnostic criteria for TS explicitly require expert assessment of tics for a definite diagnosis. On the other hand, large-scale population surveys with expert assessment of every subject are impracticable. True, several published studies have successfully used expert assessment to find tic prevalence in a representative population (e.g. all students in a school district. However, extending these studies to larger populations is daunting. We created a multimedia tool to demonstrate tics to a lay audience, discuss their defining and common attributes, and address features that differentiate tics from other movements and vocalizations. A first version was modified to improve clarity and to include a more diverse group in terms of age and ethnicity. The result is a tool intended for epidemiological research. It may also provide additional benefits, such as more representative minority recruitment for other TS studies and increased community awareness of TS.
Interstitial lung disease caused by TS-1: a case of long-term drug retention as a fatal adverse reaction.

Science.gov (United States)

Park, Joong-Min; Hwang, In Gyu; Suh, Suk-Won; Chi, Kyong-Choun

2011-12-01

TS-1 is an oral anti-cancer agent for gastric cancer with a high response rate and low toxicity. We report a case of long-term drug retention of TS-1 causing interstitial lung disease (ILD) as a fatal adverse reaction. A 65-year-old woman underwent a total gastrectomy with pathologic confirmation of gastric adenocarcinoma. She received 6 cycles of TS-1 and low-dose cisplatin for post-operative adjuvant chemotherapy followed by single-agent maintenance therapy with TS-1. After 8 months, the patient complained of a productive cough with sputum and mild dyspnea. A pulmonary evaluation revealed diffuse ILD in the lung fields, bilaterally. In spite of discontinuing chemotherapy and the administration of corticosteroids, the pulmonary symptoms did not improve, and the patient died of pulmonary failure. TS-1-induced ILD can be caused by long-term drug retention that alters the lung parenchyma irreversibly, the outcome of which can be life-threatening. Pulmonary evaluation for early detection of disease is recommended.
Waardenburg syndrome presenting with constipation since birth.

Science.gov (United States)

Gupta, R; Sharma, S B; Mathur, P; Agrawal, L D

2014-12-01

Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.
Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome

DEFF Research Database (Denmark)

Hagman, Anna; Loft, Anne; Wennerholm, Ulla-Britt

2013-01-01

What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?......What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?...
Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

Science.gov (United States)

Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

2016-05-01

Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
Yearly stepwise increments of the growth hormone dose results in a better growth response after four years in girls with Turner syndrome. Dutch Working Group on Growth Hormone

NARCIS (Netherlands)

van Teunenbroek, A.; de Muinck Keizer-Schrama, S. M.; Stijnen, T.; Jansen, M.; Otten, B. J.; Delemarre-van de Waal, H. A.; Vulsma, T.; Wit, J. M.; Rouwé, C. W.; Reeser, H. M.; Gosen, J. J.; Rongen-Westerlaken, C.; Drop, S. L.

1996-01-01

To optimize the growth promoting effect of growth hormone (GH), 65 previously untreated girls with Turner syndrome (TS), chronological age (CA) 2-11 yr, were randomized into 3 dosage regimen groups: A, B, and C, with a daily recombinant-human GH dose during 4 study years of 4-4-4-4, 4-6-6-6, and
Cognitive Profile of Turner Syndrome

Science.gov (United States)

Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

2009-01-01

Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…
Long QT interval in Turner syndrome: a high prevalence of LQTS gene mutations

DEFF Research Database (Denmark)

Trolle, Christian

Objective: QT interval prolongation of unknown aetiology is common in Turner syndrome (TS). This study set out to explore the presence of known pathogenic long QT (LQT) mutations in TS and to examine the corrected QT interval (QTc) over time and relate the findings to the TS phenotype. Methods......QTc). The prevalence of mutations in genes related to Long QT syndrome (LQTS) was determined in females with TS and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. Results: The mean hQTc in females with TS (414.0±25.5 ms...
Prevalence of metabolic syndrome and associated factors in women aged 35 to 65 years who were enrolled in a family health program in Brazil.

Science.gov (United States)

Schmitt, Ana Carolina Basso; Cardoso, Maria Regina Alves; Lopes, Heno; Pereira, Wendry Maria Paixão; Pereira, Elaine Cristina; de Rezende, Debora Aparecida Paccola; Guarizi, Rubia Guibo; Dellu, Mayra Cecilia; Oliveira, Jéssica de Moura; Flauzino, Erika; Blümel, Juan E; Aldrighi, José Mendes

2013-04-01

The aims of this study were to estimate the prevalence of metabolic syndrome among women aged 35 to 65 years and to identify associated factors. This was a cross-sectional study. We randomly selected 581 women (aged 35-65 y) from among those enrolled in a family health program in the city of Pindamonhangaba, Brazil. Metabolic syndrome was identified in accordance with the definition of the National Cholesterol Education Program Adult Treatment Panel III. Health conditions and lifestyle habits were evaluated by a survey, and anthropometric measurements were obtained. The prevalence of metabolic syndrome was estimated, and Poisson regression was used to evaluate the associations between metabolic syndrome `and the factors investigated. The prevalence of metabolic syndrome was 42.2% (95% CI, 38.1-46.2). The most common metabolic syndrome component was abdominal obesity (60.6%), followed by low levels of high-density lipoprotein cholesterol (51.3%), high levels of triglycerides (41.4%), high blood pressure (31.7%), and diabetes (13.9%). The following factors were associated with metabolic syndrome: the 45- to 54-year age group (prevalence ratio, 1.54; 95% CI, 1.08-2.01), the 55- to 65-year age group (prevalence ratio, 3.51; 95% CI, 1.49-3.10), hyperuricemia (prevalence ratio, 2.95; 95% CI, 1.15-1.86), and sleep apnea risk (prevalence ratio, 2.41; 95% CI, 1.16-1.82). We found an inverse association between metabolic syndrome and having had more than 5 years of schooling (prevalence ratio, 0.65; 95% CI, 0.65-1.04). The prevalence of metabolic syndrome is high, and the associated clinical factors are hyperuricemia and risk of sleep apnea.
Metabolic syndrome pathophysiology and clinical presentation.

Science.gov (United States)

Handelsman, Yehuda

2009-01-01

Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.
Go/NoGo performance in boys with Tourette syndrome

DEFF Research Database (Denmark)

Eichele, Heike; Eichele, Tom; Hammar, Asa

2010-01-01

This study compared performance and performance monitoring in 19 boys with Tourette syndrome (TS) (12.64 years, +/- 2.05) and 19 age-matched controls (13.16 years, +/- 2.29) using a Go/NoGo task. The results indicated similar performance accuracy in the TS group and the control group. TS particip...
Adrenalectomy for Cushing’s syndrome: do’s and don’ts

Science.gov (United States)

Paduraru, DN; Nica, A; Carsote, M; Valea, A

2016-01-01

Aim. To present specific aspects of adrenalectomy for Cushing’s syndrome (CS) by introducing well established aspects (“do’s”) and less known aspects (“don’ts”). Material and Method. This is a narrative review. Results. The “do’s” for laparoscopic adrenalectomy (LA) are the following: it represents the “gold standard” for secretor and non-secretor adrenal tumors and the first line therapy for CS with an improvement of cardio-metabolic co-morbidities; the success rate depending on the adequate patients’ selection and the surgeon’s skills. The “don’ts” are large (>6-8 centimeters), locally invasive, malignant tumors requiring open adrenalectomy (OA). Robotic adrenalectomy is a new alternative for LA, with similar safety and conversion rate and lower pain drugs use. The “don’ts” are the following: lack of randomized controlled studies including oncologic outcome, different availability at surgical centers. Related to the sub-types of CS, the “do’s” are the following: adrenal adenomas which are cured by LA, while adrenocortical carcinoma (ACC) requires adrenalectomy as first line therapy and adjuvant mitotane therapy; synchronous bilateral adrenalectomy (SBA) is useful for Cushing’s disease (only cases refractory to pituitary targeted therapy), for ectopic Cushing’s syndrome (cases with unknown or inoperable primary site), and for bilateral cortisol producing adenomas. The less established aspects are the following: criteria of skilled surgeon to approach ACC; the timing of surgery in subclinical CS; the need for adrenal vein catheterization (which is not available in many centers) to avoid unnecessary SBA. Conclusion. Adrenalectomy for CS is a dynamic domain; LA overstepped the former OA area. The future will improve the knowledge related to RA while the cutting edge is represented by a specific frame of intervention in SCS, children and pregnant women. Abbreviations: ACC = adrenocortical carcinoma, ACTH
Genome-wide association study of Tourette's syndrome

NARCIS (Netherlands)

Scharf, J. M.; Yu, D.; Mathews, C. A.; Neale, B. M.; Stewart, S. E.; Fagerness, J. A.; Evans, P.; Gamazon, E.; Edlund, C. K.; Service, S. K.; Tikhomirov, A.; Osiecki, L.; Illmann, C.; Pluzhnikov, A.; Konkashbaev, A.; Davis, L. K.; Han, B.; Crane, J.; Moorjani, P.; Crenshaw, A. T.; Parkin, M. A.; Reus, V. I.; Lowe, T. L.; Rangel-Lugo, M.; Chouinard, S.; Dion, Y.; Girard, S.; Cath, D. C.; Smit, J. H.; King, R. A.; Fernandez, T. V.; Leckman, J. F.; Kidd, K. K.; Kidd, J. R.; Pakstis, A. J.; State, M. W.; Herrera, L. D.; Romero, R.; Fournier, E.; Sandor, P.; Barr, C. L.; Phan, N.; Gross-Tsur, V.; Benarroch, F.; Pollak, Y.; Budman, C. L.; Bruun, R. D.; Erenberg, G.; Naarden, A. L.; Hoekstra, P. J.

2013-01-01

Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association
EST Table: DN237607 [KAIKOcDNA[Archive

Lifescience Database Archive (English)

Full Text Available tatin; Flags: Precursor gb|AAT40571.1| myostatin [Aepyceros melampus] 10/09/03 49 %/132 aa FBpp0273825|DpseG...ef|XP_966819.1| PREDICTED: similar to myostatin [Tribolium castaneum] DN237607 BmP ...
Operation and consolidation: lifetime of equipment and priorities TS

CERN Document Server

Béjar-Alonso, Isabel

2008-01-01

Since 1999 the TS department has benchmarked his services with the industry and other research laboratories and has prepared several consolidation plans. An evaluation of the results obtained from the different consolidation plans will be summarized. The difference between the projects achieved and those planned will be analyzed. The impact of the differed consolidation and of the maintenance backlog will be analyzed in order to present the future TS consolidation strategy
Delayed ß-cell response and glucose intolerance in young women with Turner syndrome

DEFF Research Database (Denmark)

Hjerrild, Britta Eilersen; Holst, Jens Juul; Juhl, Claus

2011-01-01

BACKGROUND: To investigate glucose homeostasis in detail in Turner syndrome (TS), where impaired glucose tolerance (IGT) and type 2 diabetes are frequent. METHODS: Cross sectional study of women with Turner syndrome (TS)(n = 13) and age and body mass index matched controls (C) (n = 13), evaluated...
Self-initiated coping with Tourette's syndrome: Effect of tic suppression on QOL.

Science.gov (United States)

Matsuda, Natsumi; Kono, Toshiaki; Nonaka, Maiko; Fujio, Miyuki; Kano, Yukiko

2016-02-01

Because of the semi-voluntary nature of tics, patients with Tourette' syndrome (TS) often report self-initiated coping with tics. Our goals were to understand the experiences of self-initiated coping with tics by individuals with TS (e.g., suppression frequency, suppression ability, and side effects of tic suppression), and investigate the effects of tic control on quality of life (QOL). One hundred participants with TS (38 children and 62 adults) answered a questionnaire concerning tic control, QOL, and other clinical characteristics. Fifty-eight percent of the participants always or frequently tried to suppress tics daily. In contrast, over 90% felt uncomfortable or incomplete when they suppressed tics and needed concentration or extra effort to suppress them. Thirty-four percent could suppress tics for less than one minute and 65% could suppress tics for less than 10min. Higher subjective satisfaction with tic control was positively correlated with life satisfaction and QOL. Individuals with TS often attempt self-initiated coping in their daily lives, especially through tic suppression, despite experiencing subjective discomfort and being aware that the duration of tic suppression is often limited. Moreover, it was found that their subjective satisfaction with tic control and effective tic suppression might have a positive influence on their life satisfaction and QOL. Thus, self-initiated coping with tics is vital for improving the QOL of individuals with TS and intervention aimed at enhancing subjective satisfaction with tic control could help manage TS. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Tourette syndrome research highlights 2015

Science.gov (United States)

Richards, Cheryl A.; Black, Kevin J.

2016-01-01

We present selected highlights from research that appeared during 2015 on Tourette syndrome and other tic disorders. Topics include phenomenology, comorbidities, developmental course, genetics, animal models, neuroimaging, electrophysiology, pharmacology, and treatment. We briefly summarize articles whose results we believe may lead to new treatments, additional research or modifications in current models of TS. PMID:27429744
Biotransformation of Tributyltin chloride by Pseudomonas stutzeri strain DN2

Directory of Open Access Journals (Sweden)

Dnyanada S. Khanolkar

2014-12-01

Full Text Available A bacterial isolate capable of utilizing tributyltin chloride (TBTCl as sole carbon source was isolated from estuarine sediments of west coast of India and identified as Pseudomonas stutzeri based on biochemical tests and Fatty acid methyl ester (FAME analysis. This isolate was designated as strain DN2. Although this bacterial isolate could resist up to 3 mM TBTCl level, it showed maximum growth at 2 mM TBTCl in mineral salt medium (MSM. Pseudomonas stutzeri DN2 exposed to 2 mM TBTCl revealed significant alteration in cell morphology as elongation and shrinkage in cell size along with roughness of cell surface. FTIR and NMR analysis of TBTCl degradation product extracted using chloroform and purified using column chromatography clearly revealed biotransformation of TBTCl into Dibutyltin dichloride (DBTCl2 through debutylation process. Therefore, Pseudomonas stutzeri strain DN2 may be used as a potential bacterial strain for bioremediation of TBTCl contaminated aquatic environmental sites.
Biotransformation of Tributyltin chloride by Pseudomonas stutzeri strain DN2

Science.gov (United States)

Khanolkar, Dnyanada S.; Naik, Milind Mohan; Dubey, Santosh Kumar

2014-01-01

A bacterial isolate capable of utilizing tributyltin chloride (TBTCl) as sole carbon source was isolated from estuarine sediments of west coast of India and identified as Pseudomonas stutzeri based on biochemical tests and Fatty acid methyl ester (FAME) analysis. This isolate was designated as strain DN2. Although this bacterial isolate could resist up to 3 mM TBTCl level, it showed maximum growth at 2 mM TBTCl in mineral salt medium (MSM). Pseudomonas stutzeri DN2 exposed to 2 mM TBTCl revealed significant alteration in cell morphology as elongation and shrinkage in cell size along with roughness of cell surface. FTIR and NMR analysis of TBTCl degradation product extracted using chloroform and purified using column chromatography clearly revealed biotransformation of TBTCl into Dibutyltin dichloride (DBTCl2) through debutylation process. Therefore, Pseudomonas stutzeri strain DN2 may be used as a potential bacterial strain for bioremediation of TBTCl contaminated aquatic environmental sites. PMID:25763027

Gilles de la Tourette syndrome in a cohort of deaf people.

Science.gov (United States)

Robertson, M M; Roberts, S; Pillai, S; Eapen, V

2015-10-01

We present six patients with Gilles de la Tourette syndrome (TS) who are also deaf. TS has been observed previously, but rarely reported in deaf people, and to date, so called "unusual" phenomenology has been highlighted. TS occurs almost worldwide and in all cultures, and the clinical phenomenology is virtually identical. In our cohort of deaf patients (we suggest another culture) with TS, the phenomenology is the same as in hearing people, and as in all other cultures, with classic motor and vocal/phonic tics, as well as associated phenomena including echo-phenomena, pali-phenomena and rarer copro-phenomena. When "words" related to these phenomenon (e.g. echolalia, palilalia, coprolalia or mental coprolalia) are elicited in deaf people, they occur usually in British Sign Language (BSL): the more "basic" vocal/phonic tics such as throat clearing are the same phenomenologically as in hearing TS people. In our case series, there was a genetic predisposition to TS in all cases. We would argue that TS in deaf people is the same as TS in hearing people and in other cultures, highlighting the biological nature of the disorder. Copyright © 2015 Elsevier B.V. All rights reserved.
Are there distinct subtypes in Tourette syndrome? Pure-Tourette syndrome versus Tourette syndrome-plus, and simple versus complex tics

Science.gov (United States)

Eapen, Valsamma; Robertson, Mary M

2015-01-01

This study addressed several questions relating to the core features of Tourette syndrome (TS) including in particular coprolalia (involuntary utterance of obscene words) and copropraxia (involuntary and inappropriate rude gesturing). A cohort of 400 TS patients was investigated. We observed that coprolalia occurred in 39% of the full cohort of 400 patients and copropraxia occurred in 20% of the cohort. Those with coprolalia had significantly higher Yale Global Tic Severity Scale (YGTSS) and Diagnostic Confidence Index (DCI) total scores and a significantly higher proportion also experienced copropraxia and echolalia. A subgroup of 222 TS patients with full comorbidity data available were also compared based on whether they had pure-TS (motor and vocal tics only) or associated comorbidities and co-existent psychopathologies (TS-plus). Pure-TS and TS-plus groups were compared across a number of characteristics including TS severity, associated clinical features, and family history. In this subgroup, 13.5% had pure-TS, while the remainder had comorbidities and psychopathologies consistent with TS-plus. Thirty-nine percent of the TS-plus group displayed coprolalia, compared to (0%) of the pure-TS group and the difference in proportions was statistically significant. The only other significant difference found between the two groups was that pure-TS was associated with no family history of obsessive compulsive disorder which is an interesting finding that may suggest that additional genes or environmental factors may be at play when TS is associated with comorbidities. Finally, differences between individuals with simple versus complex vocal/motor tics were evaluated. Results indicated that individuals with complex motor/vocal tics were significantly more likely to report premonitory urges/sensations than individuals with simple tics and TS. The implications of these findings for the assessment and understanding of TS are discussed. PMID:26089672
TS/EL ELECTRICAL WORK REQUEST FORM

CERN Multimedia

TS Department

2008-01-01

To facilitate the processing of requests for minor electrical installation work to be carried out by the TS/EL group, a new procedure designed to improve contacts and exchange of information with customers has been set up. The procedure comprises a check to determine whether the TS/EL or the TS/FM group is responsible for the area where the electrical work is to be done. If the work is to be performed by the EL group, an on-line request form must be completed. The following steps must be completed: On a web browser, use the link http://ts-dep.web.cern.ch/ts-dep/groups/el/el.htm In the left-hand menu choose ‘Demande de Travaux Electriques’ Enter the building number to check which group to contact and click ‘FIND’ If the area is: Under FM’s responsibility:\tCall 77777 Under EL’s responsibility:\tClick the link to the work form, complete it and send it (click ‘ENVOYER’) IMPORTANT This form is for minor electrical installation requests only. Please call 72201 in t...
Assessment of TS-1, a thick cane mutant

International Nuclear Information System (INIS)

Shama Rao, H.K.

1979-01-01

A true breeding thick cane mutant TS-1, induced by radiations, was obtained in variety Co-419. TS-1 was found to be superior to Co-419 with respect to cane size, weight, yield and juice quality. The thick canes of TS-1 were found to be solid even at 14 months age and so also their ratoons. The tillering habit of TS-1 has a definite advantage over other varieties with respect to easy intercultural field operations. TS-1 is now being tested under various agroclimatic zones in Karnataka, Maharashtra and U.P. (auth.)
Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

Science.gov (United States)

Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

2016-01-01

Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.
Enhanced Antisaccade Abilities in Children with Tourette syndrome: the Weakening of the Gap-Effect

Directory of Open Access Journals (Sweden)

Diana eParvinchi

2013-11-01

Full Text Available Tourette Syndrome (TS is a childhood onset disorder of motor and vocal tics. The neural networks underlying TS overlap with those of saccade eye movements. Thus, deviations on saccadic tasks can provide important information about psychopathology of TS. Tourette syndrome often coexists with Attention Deficit Hyperactivity Disorder (ADHD and Obsessive Compulsive Disorder (OCD. Hence, we manipulated various components of a saccade task to measure its effects on saccades of children with TS-only, TS+ADHD, TS+ADHD+OCD and healthy controls. Children looked towards (prosaccade or in the opposite direction (antisaccade of a peripheral target as soon as it appeared. The prosaccade and antisaccade tasks were presented in three conditions. In the Gap200 condition, the fixation dot disappeared 200 msec prior to the appearance of the peripheral target, In the Gap800 condition, the fixation dot disappeared 800 msec prior to the appearance of the peripheral target and in Overlap200 the fixation dot disappeared 200 msec after the appearance of the peripheral target. Fixation-offset manipulations had different effects on each group’s antisaccades. The TS+ADHD+OCD group’s antisaccade latencies and error rates remained relatively unchanged in the three conditions and displayed a pattern of eye movements that can be interpreted as enhanced. Alternatively, the TS+ADHD group displayed an overall pattern of longer saccadic latencies. Findings corroborate the hypothesis that the combination of tic disorder and ADHD results in unique behavioural profiles. It is plausible that a subgroup of children with TS develop an adaptive ability to control their tics which generalizes to enhanced volitional control of saccadic behaviour as well. Supporting evidence and other findings are discussed.
The effects of co-occurring ADHD symptoms on electrophysiological correlates of cognitive control in young people with Tourette syndrome.

Science.gov (United States)

Shephard, Elizabeth; Jackson, Georgina M; Groom, Madeleine J

2016-09-01

Efficient cognitive control is implicated in tic control in young people with Tourette syndrome (TS). Attention-deficit/hyperactivity disorder (ADHD) frequently co-occurs with TS and is associated with impaired cognitive control. Young people with TS and ADHD (TS+ADHD) show poorer cognitive control performance than those with TS, but how co-occurring ADHD affects underlying neural activity is unknown. We investigated this issue by examining behavioural and event-related potential (ERP) correlates of cognitive control in young people with these conditions. Participants aged 9-17 with TS (n = 17), TS+ADHD (n = 17), ADHD (n = 11), and unaffected controls (n = 20) performed a visual Go/Nogo task during electroencephalography (EEG) recording. Behavioural performance measures (D-prime, RT, reaction time variability, post-error slowing) and ERP measures (N2, P3, error-related negativity (ERN), error positivity (Pe)) were analysed in a 2 (TS-yes, TS-no) × 2 (ADHD-yes, ADHD-no) factorial analysis to investigate the effects of TS, ADHD, and their interaction. The results of these analyses showed that ADHD was associated with poorer performance and reduced amplitude of all ERPs, reflecting widespread cognitive control impairments. Tourette syndrome was associated with slowed RTs, which might reflect a compensatory slowing of motor output to facilitate tic control. There was no interaction between the TS and ADHD factors for any behavioural or ERP measure, indicating the impairing effects of ADHD on behaviour and electrophysiological markers of cognitive control were present in TS+ADHD and that RT slowing associated with TS was unaffected by co-occurring ADHD symptoms. © 2015 The British Psychological Society.
Primary antiphospholipid syndrome presenting with homonymous quadrantanopsia.

Science.gov (United States)

Yang, Hee Kyung; Moon, Ki Won; Ji, Min Jung; Han, Sang Beom; Hwang, Jeong-Min

2018-06-01

To report a case of primary antiphospholipid syndrome presenting with isolated homonymous superior quadrantanopsia. A 50-year-old Korean man presented with subjective visual disturbance for 1 month. Visual field testing showed a right homonymous superior quadrantanopsia. Brain magnetic resonance imaging (MRI) revealed an old infarct in his left occipital lobe and multiple lesions in other areas of the brain. Laboratory tests showed a marked increase in serum anti-β2 glycoprotein I antibody, which remained elevated after 12 weeks. He was diagnosed with primary antiphospholipid syndrome and started anticoagulation therapy. This is the first case report of primary antiphospholipid syndrome presenting with isolated homonymous quadrantanopsia. Antiphospholipid syndrome should be considered as a differential diagnosis in patients with homonymous visual field defects accompanying multiple cerebral infarcts.
Tourette's syndrome and associated disorders: a systematic review

Directory of Open Access Journals (Sweden)

Bárbara R. Ferreira

2014-09-01

Full Text Available Objective: To compile data on Tourette's syndrome (TS, tics and associated disorders.Methods: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies, based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included.Results: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders.Conclusions: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance.
Parental Psychopathology and Tourette Syndrome/Chronic Tic Disorder in Offspring: A Nationwide Case-Control Study.

Science.gov (United States)

Leivonen, Susanna; Scharf, Jeremiah M; Mathews, Carol A; Chudal, Roshan; Gyllenberg, David; Sucksdorff, Dan; Suominen, Auli; Voutilainen, Arja; Brown, Alan S; Sourander, Andre

2017-04-01

To determine the associations between maternal and paternal psychiatric diagnoses and Tourette syndrome (TS)/chronic tic disorder (CT) in a nationwide study. This nested case-control study linked data derived from three national registers. All singletons born and diagnosed with TS/CT in Finland between January 1991 and December 2010 were identified (n = 1,120) and matched to four controls (n = 4,299). Conditional logistic regression was used to examine the associations between parental psychopathology and TS/CT. Altogether, 24.9% of patients with TS/CT and 12.0% of controls had a mother with a psychiatric diagnosis. Similarly, 17.9% and 12.9% had a father with a psychiatric diagnosis. Any maternal and any paternal psychiatric diagnosis was associated with offspring TS/CT (odds ratio [OR] 2.3; 95% CI 1.9-2.7 and OR 1.2; 95% CI 1.01-1.5, respectively). The association between maternal psychiatric diagnosis and TS/CT was stronger than that between paternal psychiatric diagnosis and TS/CT (p disorders (OR 3.1, 95% CI 1.9-5.1), anxiety disorders (OR 2.6, 95% CI 1.9-3.5), affective disorders (OR 2.3, 95% CI 1.8-2.9), psychotic disorders (OR 2.0, 95% CI 1.2-3.3), and addiction disorders (OR 1.8, 95% CI 1.1-2.8) were associated with TS/CT. Paternal OCD (OR 6.5, 95% CI 1.1-39.5) and anxiety disorders (OR 1.5, 95% CI 1.1-2.3) were associated with TS/CT. Parental psychiatric diagnoses (especially in the mother) are associated with diagnosed offspring TS/CT. Further studies are required before the results can be generalized to all children with TS/CT. The associations between maternal psychiatric disorders and TS may reflect both maternal specific environmental and/or genetic influences. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Turner Syndrome

Science.gov (United States)

... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...
LIDAR TS for ITER core plasma. Part II: simultaneous two wavelength LIDAR TS

Science.gov (United States)

Gowers, C.; Nielsen, P.; Salzmann, H.

2017-12-01

We have shown recently, and in more detail at this conference (Salzmann et al) that the LIDAR approach to ITER core TS measurements requires only two mirrors in the inaccessible port plug area of the machine. This leads to simplified and robust alignment, lower risk of mirror damage by plasma contamination and much simpler calibration, compared with the awkward and vulnerable optical geometry of the conventional imaging TS approach, currently under development by ITER. In the present work we have extended the simulation code used previously to include the case of launching two laser pulses, of different wavelengths, simultaneously in LIDAR geometry. The aim of this approach is to broaden the choice of lasers available for the diagnostic. In the simulation code it is assumed that two short duration (300 ps) laser pulses of different wavelengths, from an Nd:YAG laser are launched through the plasma simultaneously. The temperature and density profiles are deduced in the usual way but from the resulting combined scattered signals in the different spectral channels of the single spectrometer. The spectral response and quantum efficiencies of the detectors used in the simulation are taken from catalogue data for commercially available Hamamatsu MCP-PMTs. The response times, gateability and tolerance to stray light levels of this type of photomultiplier have already been demonstrated in the JET LIDAR system and give sufficient spatial resolution to meet the ITER specification. Here we present the new simulation results from the code. They demonstrate that when the detectors are combined with this two laser, LIDAR approach, the full range of the specified ITER core plasma Te and ne can be measured with sufficient accuracy. So, with commercially available detectors and a simple modification of a Nd:YAG laser similar to that currently being used in the design of the conventional ITER core TS design mentioned above, the ITER requirements can be met.
Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

Science.gov (United States)

Bondy, Carolyn A

2007-01-01

The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function
Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

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Pedersen Erik M

2011-04-01

Full Text Available Abstract Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS. Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve.
Transcutaneous Spinal Direct Current Stimulation (tsDCS

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Filippo eCogiamanian

2012-07-01

Full Text Available In the past ten years renewed interest has centered on non-invasive transcutaneous weak direct currents applied over the scalp to modulate cortical excitability (brain polarization or transcranial direct current stimulation, tDCS. Extensive literature shows that tDCS induces marked changes in cortical excitability that outlast stimulation.Aiming at developing a new, non invasive, approach to spinal cord neuromodulation we assessed the after-effects of thoracic transcutaneous spinal DC stimulation (tsDCS on somatosensory potentials (SEPs evoked in healthy subjects by posterior tibial nerve (PTN stimulation. Our findings showed that thoracic anodal tsDCS depresses the cervico-medullary PTN-SEP component (P30 without eliciting adverse effects. tsDCS also modulates post-activation H-reflex dynamics. Later works further confirmed that transcutaneous electric fields modulate spinal cord function. Subsequent studies in our laboratory showed that tsDCS modulates the flexion reflex in the human lower limb. Besides influencing the laser evoked potentials, tsDCS increases pain tolerance in healthy subjects. Hence, though the underlying mechanisms remain speculative, tsDCS modulates activity in lemniscal, spinothalamic and segmental motor systems.Here we review currently available experimental evidence that non-invasive spinal cord stimulation influences spinal function in humans and argue that, by focally modulating spinal excitability, tsDCS could provide a novel therapeutic tool complementary to drugs and invasive spinal cord stimulation in managing various pathologic conditions, including pain.
Osteoprotegerin in Turner syndrome - relationship to aortic diameter

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Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette

2015-01-01

BACKGROUND: Cardiovascular disease is a cardinal trait of Turner syndrome (TS), causing half of the 3-fold excess mortality. Since osteoprotegerin (OPG) is as a potential biomarker of cardiovascular disease, this cross-sectional and prospective study aimed at elucidating OPG levels in TS and its...
Conns' syndrome - atypical presentations

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Kumar, K V S Hari; Modi, K D; Jha, Sangeeta; Jha, Ratan

2009-01-01

Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)
[Construction of a system for proper TS-1 application].

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Azuma, Sayaka; Morimoto, Shigefumi; Kagawa, Kunihiko; Katada, Yoshinori; Hasegawa, Kenji; Tabuse, Katsuyoshi

2010-03-01

TS-1 is an oral anti-tumor drug, which contains 5-chloro-2, 4-dihydroxypyridine (CDHP), a compound mainly excreted in urine. Since the CDHP concentration is increased among patients with impaired renal function, the frequency of side effects of TS-1 increases in such patients. Therefore, we constructed a computer-aided system that enables prompt monitoring of creatinine clearance (Ccr) calculated from the serum creatinine levels of patients prescribed TS-1 at the time pharmacists prepare the medicine. With this system, we found two cases who were prescribed TS-1, despite their decreased Ccr. One was a patient whose estimated Ccr was less than 30 mL/min/m2. With such renal malfunction, pharmacokinetics of the drug was considerably changed compared with normal control, and the dosage should be reduced. The other case presented with severe jaundice and had only a mild decrease of renal function (Ccr: 50 mL/min/m2). So we measured the concentration of uracil in the urine and performed a drug lymphocyte stimulation test for further investigation of concomitant affecting factors. Our system is useful because it can show pharmacists both the dosage TS-1 patients take and their renal function at a glance in real time. This system can be adapted for every medicine which might accumulate in patients with renal dysfunction.
Neurosurgical strategies for Gilles de la Tourette’s syndrome

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Karim Mukhida

2008-09-01

Full Text Available Karim Mukhida1,2, Matthew Bishop2, Murray Hong2, Ivar Mendez21Division of Neurosurgery, University of Toronto, Toronto, Ontario, Canada; 2Departments, of Anatomy and Neurobiology and Surgery (Neurosurgery, Dalhousie University, Halifax, Nova Scotia, CanadaAbstract: Tourette’s syndrome (TS is a neurological disorder characterized by motor and vocal tics that typically begin in childhood and often are accompanied by psychiatric comorbidities. Symptoms of TS may be socially disabling and cause secondary medical complications. Pharmacological therapies remain the mainstay of symptom management. For the subset of patients in whom TS symptoms are medically recalcitrant and do not dissipate by adulthood, neurosurgery may offer an alternative treatment strategy. Greater understanding of the neuroanatomic and pathophysiologic basis of TS has facilitated the development of surgical procedures that aim to ameliorate TS symptoms by lesions or deep brain stimulation of cerebral structures. Herein, the rationale for the surgical management of TS is discussed and neurosurgical experiences since the 1960s are reviewed. The necessity for neurosurgical strategies to be performed with appropriate ethical considerations is highlighted.Keywords: tourette’s syndrome, neurosurgery, deep brain stimulation, thalamus
Phase I study of concurrent radiotherapy with TS-1 and vitamin A (TAR therapy) for head and neck cancer

International Nuclear Information System (INIS)

Nakashima, Torahiko; Kuratomi, Yuichiro; Yamamoto, Tomoya; Masuda, Muneyuki; Hirakawa, Naoya; Nakamura, Kazumasa; Shioyama, Yoshiyuki; Umezaki, Toshiro; Komune, Shizuo

2005-01-01

The triple combination of 5-fluorouracil (5-FU), vitamin A and radiation (FAR therapy) has been effectively used to treat head and neck cancer. The biological anti-tumor effect of 5-FU depends on the activity of its metabolizing enzyme, dihydropyrimidine dehydrogenase (DPD). TS-1 is a novel oral DPD inhibitory fluoropyrimidine (DIF). To improve the anti-tumor effect of FAR therapy, we have applied TS-1 in place of 5-FU injection in the combination of Vitamin A and radiation (TAR therapy). In this study, we have examined the appropriate duration of TS-1 medication and the clinical efficacy and safety of TAR therapy. TS-1 was administered orally at a dose of 65 mg/m 2 twice a day. Vitamin A (Retinol Palmitate: 50,000 U/day) was administered intra-musculary on each day of radiation. Radiation was given (1.5∼2 Gy/day: 5 days/week) for 30∼40 Gy. The levels were divided according to the length of TS-1 application as follows: level 1, 2 weeks; level 2, 3 weeks; level 4, 4 weeks. Grade 4 toxicity of anorexia was observed in one case of level 3. We decided that level 2 (3 weeks of TS-1 administration) was the appropriate length of TS-1 application. TAR therapy is a useful concurrent chemo-radiotherapy which might improve the response rate and quality of life (QOL) of patients with head and neck squamous cell carcinoma (HNSCC). (author)

A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

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Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

2017-01-01

Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.
Physical fitness of schoolgirls with Turner syndrome

NARCIS (Netherlands)

Milde, K.; Tomaszewski, P.K.; Stupnicki, R.

2013-01-01

The aim of the study was to assess physical fitness of girls with Turner syndrome (TS) and to determine the relative contributions of age, body height, and body mass to performance in fitness tests. Girls with TS aged 10-18 years (n = 184), and age- and stature-matched healthy controls (n = 280)
Tourette Syndrome and the School Nurse. Revised.

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Ort, Sharon I.; And Others

Information on Tourette Syndrome (TS), as well as transient and chronic tic disorders, is provided in this pamphlet for the school nurse, who can support and educate the child, family, and other school personnel. Information is included on genetic factors and behaviors that may be connected to TS: obsessive-compulsive symptoms, hyperactivity,…
Parkinsonian syndromes presenting with circadian rhythm sleep disorder- advanced sleep-phase type.

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Shukla, Garima; Kaul, Bhavna; Gupta, Anupama; Goyal, Vinay; Behari, Madhuri

2015-01-01

Circadian rhythm sleep disorder-advanced sleep-phase type is a relatively uncommon disorder, mostly seen among the elderly population. Impaired circadian rhythms have been reported in neurodegenerative conditions; however, there are no reports of any circadian rhythm sleep disorder among patients with Parkinsonian syndromes. We report two patients who presented with this circadian rhythm disorder, and were then diagnosed with a Parkinsonian syndrome. The cases. A 65-year-old retired man presented with history of abrupt change in sleep schedules, sleeping around 6.30-7 p.m. and waking up around 3-4 a.m. for the last 2 months. On detailed examination, the patient was observed to have symmetrical bradykinesia and cogwheel rigidity of limbs. A diagnosis of multiple system atrophy was made, supported by MRI findings and evidence of autonomic dysfunction. Symptoms of change in sleep-wake cycles resolved over the next 1 year, while the patient was treated with dopaminergic therapy. A 47-year-old man, who was being evaluated for presurgical investigation for refractory temporal lobe epilepsy, presented with complaints suggestive of dysarthria, bradykinesia of limbs and frequent falls for 5 months. Simultaneously, he began to sleep around 7 p.m. and wake up at about 2-3 a.m. Examination revealed severe axial rigidity, restricted vertical gaze and bradykinesia of limbs. A diagnosis of progressive supranuclear palsy was made. This is the first report of Parkinson's plus syndromes presenting with a circadian rhythm sleep disorder-advanced sleep-phase type. More prospective assessment for circadian sleep disorders may introduce useful insights into similar associations. Copyright 2015, NMJI.
Fertility preservation in Turner syndrome.

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Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel

2016-01-01

Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
The comorbidity of bipolar disorder, diabetes mellitus, and autoimmune hypothyroidism in an adult woman with Turner’s syndrome: a case report

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Li J

2017-09-01

Full Text Available Jinling Li, Xiaohong Hong, Haiyun Xu The Mental Health Center, Shantou University Medical College, Shantou, Guangdong, People’s Republic of China Abstract: Turner’s syndrome (TS is the most common sex chromosome abnormality in females and characterized with short stature and ovarian dysgenesis. Patients with TS may also present many other physical diseases and mental disorders. In this case report, we present a 49-year-old woman with TS, who also met criteria for bipolar disorder, type 2 diabetes mellitus, and autoimmune hypothyroidism. The patient was admitted to the mental health center for depressive symptoms in 1991 and was misdiagnosed as hypopituitarism, which was not corrected until 2005 when her karyotype of 45, X/46, X, i(Xq was identified. Due to the misdiagnosis and other specific reasons, the patient missed the optimal time for hormone replacement therapy. Keywords: Turner’s syndrome, bipolar disorder, karyotype, comorbidity
Capecitabine caused cardiogenic shock through induction of global takotsubo syndrome

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Y-Hassan, Shams, E-mail: shams.younis-hassan@karolinska.se; Tornvall, Per; Törnerud, Mattias; Henareh, Loghman

2013-01-15

5-Fluorouracil (5-FU) and its oral pro-drug capecitabine are widely used in oncology for the treatment of various solid tumours, including colorectal cancers. Cardiotoxicity to these drugs is not an uncommon adverse effect and has been reported in 1%–18% of patients. Capecitabine has been reported to trigger mid-apical Takotsubo syndrome (TS). We describe here the case of a 55-year-old man who presented with cardiogenic shock and ECG signs of ST-elevation myocardial infarction. The symptoms began 28 h after the commencement of capecitabine adjuvant therapy, following a radical right-sided hemicolectomy for low-differentiated adenocarcinoma of the caecum. Echocardiography showed severe global left ventricular dysfunction. Cardiac magnetic resonance imaging showed no signs of late gadolinium enhancement. These clinical, cardiac image study findings and the course of the disease with full recovery within one week were consistent with global TS triggered by the adjuvant therapy capecitabine and presenting with a life-threatening cardiogenic shock. Moreover, we have demonstrated the speedy dynamic of the left ventricular wall motion abnormality with global TS at presentation and basal (inverted) TS findings 4 days later on.
Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.

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Sundaram, Senthil K; Huq, Ahm M; Sun, Zhen; Yu, Wu; Bennett, Lindsey; Wilson, Benjamin J; Behen, Michael E; Chugani, Harry T

2011-05-01

Ten members of a 3-generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS-CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OFCC1 genes that segregated with chronic tic phenotype. These variants were not present in 100 control subjects or in dbSNP/1000 Genomes databases. A novel variant in the 5' untranslated region of the OFCC1 gene was found in 2 TS-CTD patients from a different pedigree. Further studies will clarify the importance of variants in MRPL3, DNAJC13, and OFCC1 genes in TS. Copyright © 2011 American Neurological Association.
PREVALENCE OF CELIAC DISEASE IN PATIENTS WITH TURNER’S SYNDROME

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H. Moayeri S. H. Bahremand

2005-07-01

Full Text Available Celiac disease (CD has been reported in association with genetic disorders ‎such as Down’s syndrome and Turner’s syndrome (TS. This study was undertaken to assess the prevalence of CD among a group of patients with TS. Forty eight girls with TS and a control group composed of 48 healthy girls were screened for CD by IgA antiendomysial antibody (IgA-EMA. Total IgA of serum was measured in all of the patients and controls and EMA was measured in subjects who had normal range of IgA. Endoscopy and biopsy of duodenum was performed for EMA positive patients and pathologic evaluation was done according to Marsh’s classification. Total IgA of serum in all of the subjects was in normal range. Two subjects, both with TS, were EMA positive, resulting in a prevalence of 4.1% for CD in TS. Duodenal biopsy was performed in these patients and histologic changes of samples were classified as grade II in one and grade III b in another one. Results of this study are compatible with previous observations placing girls with TS at higher risk for CD relative to general population and justifying screening of CD in patients with TS.
[Chronic tics and Tourette syndrome in children and adolescents: diagnostic and treatment characteristics].

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Zavadenko, N N; Doronina, O B; Nesterovsky, Yu E

2015-01-01

Chronic tics (CT) are observed in 3-4% population, Tourette syndrome (TS) in 0.1-3.0%. In most cases, tic disorders start at age 2-15 years, but frequently they are diagnosed late. Clinical presentations of tics and comorbid disorders are various and depend on child's age. Difficulties in treatment of CT are associated with their persistence and those for TS with the fluctuating course of tics and probable onset of the disease in the form of behavioral disorders. Treatment of CT and TS is individual. Methods of behavioral and psychotherapy are recommended for a certain period of time if tics do not hamper everyday life. Increase in tick frequency and severity indicate the necessity of using pharmacological treatment. The European recommendations on pharmacotherapy of tic disorders and the drugs available in Russia are considered. Results of the studies on the efficacy of antiepileptic drugs and tenoten children in CT and TS are presented.
During childhood unrecognized congenital heart defect in patient with Turner syndrome, and its implications

International Nuclear Information System (INIS)

Klaskova, E.; Kapralova, S.; Zapletalova, J.; Tuedoes, Z.

2015-01-01

Congenital heart disease affects approximately 50 % of individuals with Turner syndrome (TS). Bicuspid aortic valve, aortic coarctation, ascending aorta dilatation and arterial hypertension are important risk factors for life-threatening aortic dissection or rupture. Authors discuss the importance of a careful cardiac examination including cardiac magnetic resonance imaging study and life-long follow-up by experienced cardiologist in TS patients, and point out high maternal mortality and morbidity during pregnancy. They present a case report of woman with TS and the above-mentioned in childhood unrecognized congenital heart defects that underwent infertility treatment without pre conceptional counselling focused on cardiovascular risk for aortic dissection. (author)
Quantitative liver functions in Turner syndrome with and without hormone replacement therapy

DEFF Research Database (Denmark)

Gravholt, Claus Højbjerg; Poulsen, H.E.; Ott, Peter

2007-01-01

Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes.......Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes....
Two male patients with ring Y : definition of an interval in Yq contributing to Turner syndrome

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Tzancheva, M; Kaneva, R; Kumanov, P; Williams, G; Tyler-Smith, C

Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies,
Immune-mediated animal models of Tourette syndrome

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Hornig, Mady; Lipkin, W. Ian

2014-01-01

An autoimmune diathesis has been proposed in Tourette syndrome (TS) and related neuropsychiatric disorders such as obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism and anorexia nervosa. Environmental triggers including infection and xenobiotics are hypothesized to lead to the production of brain-directed autoantibodies in a subset of genetically susceptible individuals. Although much work has focused on Group A Streptococcus (GAS), the role of this common childhood infection remains controversial. Animal model studies based on immune and autoantibody findings in TS have demonstrated immunoglobulin (Ig) deposits and stereotypic movements and related behavioral disturbances reminiscent of TS following exposure to GAS and other activators of host anti-microbial responses, soluble immune mediators and anti-GAS or anti-neuronal antibodies. Demonstration of the ability to recreate these abnormalities through passive transfer of serum IgG from GAS-immunized mice into naïve mice and abrogation of this activity through depletion of IgG has provided compelling evidence in support of the autoimmune hypothesis. Immunologically-based animal models of TS are a potent tool for dissecting the pathogenesis of this serious neuropsychiatric syndrome. PMID:23313649
Sex hormone replacement in Turner syndrome

DEFF Research Database (Denmark)

Trolle, Christian; Hjerrild, Britta; Cleemann, Line Hartvig

2012-01-01

The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent...... osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner...... syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects...
QTc interval prolongation in children with Turner syndrome: the results of exercise testing and 24-h ECG.

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Dalla Pozza, Robert; Bechtold, Susanne; Urschel, Simon; Netz, Heinrich; Schwarz, Hans-Peter

2009-01-01

Turner syndrome (TS) is the most common sex chromosome abnormality in females. Recently, a prolongation of the rate-corrected QT (QTc) interval in the electrocardiogram (ECG) of TS patients has been reported. A prolonged QTc interval has been correlated to an increased risk for sudden cardiac death, and medical treatment is warranted in patients with congenital long QT syndrome (LQTS). Additionally, several drugs of common use are contraindicated in LQTS because of their effects on myocardial repolarization. The importance of the QTc prolongation in TS patients is not known at present. Eighteen TS patients with a prolonged QTc interval (group 1) and 11 TS patients with a normal QTc interval (group 2) (mean age 12.6+/-3.1 vs. 11.8+/-2.1 years, respectively) were tested. The QTc interval was calculated during exercise testing and during 24-h ECG recordings. None of the patients experienced adverse cardiac events during the tests. The mean QTc interval decreased from 0.467 to 0.432 s in group 1 and from 0.432 to 0.412 s in group 2. During the 24-h ECG, the maximum QTc interval was significantly prolonged in group 1 (0.51 vs. 0.465 s, pinformation about the cardiac risk in the single TS patient with a prolonged QTc interval. This helps in counseling these girls, as clear therapeutic guidelines are currently lacking.
The application of neuropathic pain questionnaires in burning mouth syndrome patients.

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Heo, Jun-Young; Ok, Soo-Min; Ahn, Yong-Woo; Ko, Myung-Yun; Jeong, Sung-Hee

2015-01-01

To evaluate and compare the validity of the PainDETECT, DN4, and abbreviated DN4 (DN4i) neuropathic pain questionnaires for primary burning mouth syndrome (BMS), which is a burning sensation in the oral mucosa in the absence of any identifiable organic etiology. Eighty-one patients (42 with primary BMS and 39 with nociceptive pain) complaining of a burning sensation and pain in their oral mucosa were enrolled in this study. All of the patients completed the neuropathic pain questionnaires. The sensitivity, specificity, positive predictive value, negative predictive value, and the area under the receiver operating characteristic (ROC) curve were estimated. Then the relationship between pain intensity and total neuropathic pain score was investigated. Data were analyzed with the chi-square test and independent t test for subjects' baseline characteristic differences, and with Pearson correlation coefficients for the relationship of variables. The mean area under the ROC curves (AUCs) for PainDETECT, DN4, and DN4i were 0.81, 0.79, and 0.81, respectively. There was no statistically significant difference in the AUCs among the questionnaires. PainDETECT, DN4, and DN4i had a lower sensitivity and specificity for BMS compared to previous validation studies. The total scores for PainDETECT, DN4, and DN4i in the primary BMS group were significantly associated with pain intensity. Although the results of this study suggest that neuropathic pain questionnaires, such as PainDETECT and DN4, are not ideal principal screening tools for BMS patients, a substantial proportion of neuropathic symptoms in primary BMS patients were identified.
Turner syndrome: transition from pediatrics to adulthood.

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Rubin, Karen R

2008-09-01

To highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS). The morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent self-care and autonomy in adolescent patients. An essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during early-stage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity. The transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood.
ChemTS: an efficient python library for de novo molecular generation

Science.gov (United States)

Yang, Xiufeng; Zhang, Jinzhe; Yoshizoe, Kazuki; Terayama, Kei; Tsuda, Koji

2017-12-01

Automatic design of organic materials requires black-box optimization in a vast chemical space. In conventional molecular design algorithms, a molecule is built as a combination of predetermined fragments. Recently, deep neural network models such as variational autoencoders and recurrent neural networks (RNNs) are shown to be effective in de novo design of molecules without any predetermined fragments. This paper presents a novel Python library ChemTS that explores the chemical space by combining Monte Carlo tree search and an RNN. In a benchmarking problem of optimizing the octanol-water partition coefficient and synthesizability, our algorithm showed superior efficiency in finding high-scoring molecules. ChemTS is available at https://github.com/tsudalab/ChemTS.
FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

DEFF Research Database (Denmark)

Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

2010-01-01

Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

Science.gov (United States)

Kothari, Cartik; Wack, Maxime; Hassen-Khodja, Claire; Finan, Sean; Savova, Guergana; O'Boyle, Megan; Bliss, Geraldine; Cornell, Andria; Horn, Elizabeth J; Davis, Rebecca; Jacobs, Jacquelyn; Kohane, Isaac; Avillach, Paul

2017-09-01

The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high-quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients. © 2017 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.
Clinical course of Tourette syndrome.

Science.gov (United States)

Bloch, Michael H; Leckman, James F

2009-12-01

Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics lasting at least a year in duration. Children with TS often experience comorbid conditions such as obsessive-compulsive disorder (OCD) and attention-deficit disorder. The goal of this article was to review the long-term clinical course of tics and comorbid conditions in children with TS. We conducted a traditional literature search to locate relevant articles regarding long-term outcome and prognosis in TS and tic disorders. Tics typically have an onset between the ages of 4 and 6 years and reach their worst-ever severity between the ages of 10 and 12 years. On average, tic severity declines during adolescence. By early adulthood, roughly three-quarters of children with TS will have greatly diminished tic symptoms and over one-third will be tic free. Comorbid conditions, such as OCD and other anxiety and depressive disorders, are more common during the adolescence and early adulthood of individuals with TS than in the general population. Although tics are the sine qua non of TS, they are often not the most enduring or impairing symptoms in children with TS. Measures used to enhance self-esteem, such as encouraging strong friendships and the exploration of interests, are crucial to ensuring positive adulthood outcome in TS.
Behandling af Tourettes syndrom med aripiprazol

DEFF Research Database (Denmark)

Stenstrøm, Anne Dorte; Sindø, Ingrid

2008-01-01

Tourette's syndrome (TS) is a motoric disorder characterised by multiple motor and vocal tics. The treatment for patients with moderate to severe TS includes antipsychotic medication. A case report is described in which a 20 year-old male had taken antipsychotic medication since the age of five......, due to TS. The initial treatment consisted of pimozide and risperidone, both of which had an unsatisfactorily efficacy on tics and side effects in the form of weight gain and sedation. The patient is now treated with aripiprazole and there is a marked reduction of tics and no side effects...
The putative imprinted locus D15S9 within the common deletion region for the Prader-Willi and Angelman syndromes encodes two overlapping mRNAs transcribed from opposite strands

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Glenn, C.C.; Driscoll, D.J. [Univ. of Florida, Gainesville, FL (United States); Saitoh, S. [Case Western Reserve Univ., Cleveland, OH (United States)] [and others

1994-09-01

Prader-Willi syndrome is typically caused by a deletion of paternal 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15, while Angelman syndrome is caused by a maternal deletion or paternal UPD of the same region. Therefore, these two clinically distinct neurobehavioral syndromes result from differential expression of imprinted genes within 15q11-q13. A 3.1 kb cDNA, DN34, from the D15S9 locus within 15q11-q13 was isolated from a human fetal brain library. We showed previously that DN34 probe detects a DNA methylation imprint and therefore may represent a candidate imprinted gene. Isolation of genomic clones and DNA sequencing demonstrated that the gene segment encoding the partial cDNA DN34 was split by a 2 kb intron, but did not encode a substantial open reading frame (ORF). Preliminary analysis of expression by RT-PCR suggests that this gene is expressed in fetal but not in tested tissue types from the adult, and thus its imprinting status has not been possible to assess at present. Surprisingly, we found an ORF on the antisense strand of the DN34 cDNA. This ORF encodes a putative polypeptide of 505 amino acid residues containing a RING C{sub 3}HC{sub 4} zinc-finger motif and other features of nuclear proteins. Subsequent characterization of this gene, ZNF127, and a mouse homolog, demonstrated expression of 3.2 kb transcript from all tested fetal and adult tissues. Transcripts initiate from within a CpG-island, shown to be differentially methylated on parental alleles in the human. Interestingly, functional imprinting of the mouse homolog was subsequently demonstrated in an F{sub 1} cross by analyzing a VNTR polymorphism in the mRNA. The ZNF127 gene is intronless, has significant overlap with the DN34 gene on the antisense strand, and a 1 kb 3{prime} end within the 2 kb DN34 intron.
Stuttering and Tourette's Syndrome

Science.gov (United States)

... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...
Teaching Children with Tourette Syndrome. ERIC Digest E570.

Science.gov (United States)

Knoblauch, Bernadette

This digest provides basic information on Tourette Syndrome (TS) as well as guidelines for appropriate classroom accommodations. It reports that about 100,000 Americans have diagnosed TS with symptoms including multiple motor and vocal tics; frequent (daily) occurrence of bouts of tics; periodic changes in the number, frequency, and severity of…
Churg–Strauss Syndrome Presenting with Endobronchial Masses

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Veli Çetinsu

2015-12-01

Full Text Available Churg–Strauss syndrome is a condition with unknown etiology and asthma, allergic rhinitis, eosinophilic infiltration of blood and tissues, and transient infiltration of the lungs. It occurs mostly in the 3rd–4th decades of life with an incidence of 2.4/1000000. Presentation frequently involves nodular lung infiltrations, infiltrations with cavity, ground-glass appearance, and alveolar opacity. However, endobronchial mass is an unexpected presentation. In the current case report, we present a 45-year-old male patient who was receiving asthma therapy for 5 years. In the last follow-up visit, we identified a mass in the right hilum on X-ray radiography and performed fiberoptic bronchoscopy. Pathologic examination of biopsy material verified the diagnosis of Churg–Strauss syndrome. Bronchial mass is an unexpected presentation of Churg–Strauss syndrome and pathologic examination is essential to distinguish it from pulmonary malignancies
A role for E2-2 at the DN3 stage of early thymopoiesis

DEFF Research Database (Denmark)

Wikström, Ingela; Forssell, Johan; Penha-Goncalves, Mario N

2008-01-01

Roles for the E-proteins E2A and HEB during T lymphocyte development have been well established. Based on our previous observations of counter selection against T cells lacking E2-2, it seemed reasonable to assume that there would be a function also for E2-2 in thymocyte development. Aiming...... proteins, Id2 displayed a prominent expression exclusively in DN1, whereas Id3 showed some expression in DN1, followed by a down regulation and then a prominent induction, peaking in the DP stage. E2-2 was expressed during the DN stages, as well as in the DP stage, suggesting that E2-2 operates in concert...
Tourette Syndrome: School-Based Interventions for Tics and Associated Conditions

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Koutsoklenis, Athanasios; Theodoridou, Zoe

2012-01-01

Tourette syndrome (TS) is a neurological disorder characterized by motor and phonic tics that follow a fluctuating pattern of severity, intensity and frequency. TS is often associated with other conditions such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder and learning difficulties. This complex phenotype affects the…
Nuclear NF-κB p65 in peripheral blood mononuclear cells correlates with urinary MCP-1, RANTES and the severity of type 2 diabetic nephropathy.

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Bin Yi

Full Text Available AIMS: To investigate if nuclear NF-κB p65 expression in ex vivo isolated peripheral blood mononuclear cells correlates with urinary MCP-1 or RANTES and the severity of type 2 diabetic nephropathy. METHODS: According to their urinary albumin-to-creatinine ratio (uACR, 107 patients with type 2 diabetes (eGFR >60 ml/min were divided into normal albuminuria group (DN0 group, 38 cases, microalbuminuria group (DN1 group, 38 cases, and macroalbuminuria group (DN2 group, 31 cases, compared with matched healthy normal control group (NC group, 30 cases. Nuclear NF-κB p65 protein expression levels in peripheral blood mononuclear cells were detected by western blotting. Real-time quantitative polymerase chain reaction was used to detect NF-κB p65 mRNA expression and ELISA assay was used to detect the levels of urinary MCP-1 and RANTES. RESULTS: Nuclear NF-κB p65 protein and NF-κB p65 mRNA expression levels in peripheral blood mononuclear cells, urinary MCP-1/Cr and RANTES/Cr were all significantly higher in all diabetes groups as compared with NC group. In particular, the increase of nuclear NF-κB p65 protein and NF-κB p65 mRNA expressions, urinary MCP-1/Cr and RANTES/Cr all correlated with the severity of type 2 diabetic nephropathy as indicated by the increase in uACR. Pearson correlation analysis indicated that both urinary MCP-1/Cr and RANTES/Cr were positively correlated with nuclear NF-κB p65 protein or NF-κB p65 mRNA levels. Stepwise multiple regression analysis showed that nuclear NF-κB p65 protein or NF-κB p65 mRNA was an independent variable for urinary MCP-1/Cr, and MCP-1/Cr and RANTES/Cr were two independent variables for uACR. CONCLUSION: Our research demonstrates that nuclear NF-κB p65 protein and mRNA expressions in ex vivo isolated peripheral blood mononuclear cells well correlate with urinary MCP-1/Cr, RANTES/Cr and the severity of type 2 diabetic nephropathy.
Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

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K K Singh

2015-01-01

Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.

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Sanjay Premi

Full Text Available Presence of the human Y-chromosome in females with Turner Syndrome (TS enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS patients and detected high level of mosaicisms ranging from 45,XO:46,XY = 100:0% in 4; 45,XO:46,XY:46XX = 4:94:2 in 8; and 45,XO:46,XY:46XX = 50:30:20 cells in 3 TS patients, unlike previous reports showing 5-8% cells with Y- material. Also, no ring, marker or di-centric Y was observed in any of the cases. Of the two TS patients having intact Y chromosome in >85% cells, one was exceptionally tall. Both the patients were positive for SRY, DAZ, CDY1, DBY, UTY and AZFa, b and c specific STSs. Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was normal in 8 TS patients while the remaining 7 showed either absence of this gene or known and novel mutations within and outside of the HMG box. SNV/SFV analysis showed normal four copies of the DAZ genes in these 8 patients. All the TS patients showed aplastic uterus with no ovaries and no symptom of gonadoblastoma. Present study demonstrates new types of polymorphisms indicating that no two TS patients have identical genotype-phenotype. Thus, a comprehensive analysis of more number of samples is warranted to uncover consensus on the loci affected, to be able to use them as potential diagnostic markers.
Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation.

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Hotwani, Kavita; Sharma, Krishna

2015-01-01

Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57.
Treatment of Tourette syndrome.

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Kurlan, Roger M

2014-01-01

Tourette's syndrome (TS) consists of chronic motor and phonic tics and characteristically begins in childhood. The tics can be disabling and commonly associated behavioral comorbities such as attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), can also cause problems in daily functioning. The underlying etiology and neurobiology of TS remain unknown although genetic factors appear to be important, cortical control of basal ganglia motor function appears to be disturbed and neurochemical abnormalities, particularly involving dopamine neurotransmission, are likely present. The treatment of TS involves appropriate education and support. Tics can be treated with habit reversal cognitive behavioral therapy, medications (most commonly alpha agonists and antipsychotics), local intramuscular injections of botulinum toxin and some severe, refractory cases have responded to deep brain stimulation surgery (DBS). It is important to appropriately diagnose and treat comorbid behavioral disorders that are disrupting function. OCD can be treated with cognitive behavioral therapy, selective serotonin reuptake inhibitors, and atypical antipsychotics. DBS has become a treatment option for patients with disabling OCD despite other therapies. ADHD is treated with appropriate classroom accommodations, behavioral therapy, alpha agonists, atomoxetine or methylphenidate-containing stimulant drugs.
Identification of two heritable cross-disorder endophenotypes for Tourette Syndrome

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Darrow, Sabrina M.; Hirschtritt, Matthew E.; Davis, Lea K.; Illmann, Cornelia; Osiecki, Lisa; Grados, Marco; Sandor, Paul; Dion, Yves; King, Robert; Pauls, David; Budman, Cathy L.; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J.; Yu, Dongmei; McGrath, Lauren M.; McMahon, William M.; Lee, Paul C.; Delucchi, Kevin L.; Scharf, Jeremiah M.; Mathews, Carol A.

2016-01-01

Objective Phenotypic heterogeneity in Tourette syndrome (TS) is partly due to complex genetic relationships between TS, obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). Identifying symptom-based endophenotypes across diagnoses may aid gene-finding efforts. Method 3494 individuals recruited for genetic studies were assessed for TS, OCD, and ADHD symptoms. Symptom-level factor and latent class analyses were conducted in TS families and replicated in an independent sample. Classes were characterized by comorbidity rates and proportion of parents. Heritability and TS-, OCD-, and ADHD-associated polygenic load were estimated. Results We identified two cross-disorder symptom-based phenotypes across analyses: symmetry (symmetry, evening up, checking obsessions; ordering, arranging, counting, writing-rewriting compulsions, repetitive writing tics) and disinhibition (uttering syllables/words, echolalia/palilalia, coprolalia/copropraxia and obsessive urges to offend/mutilate/be destructive). Heritability estimates for both endophenotypes were high (disinhibition factor= 0.35, SE=0.03, p= 4.2 ×10−34; symmetry factor= 0.39, SE=0.03, p= 7.2 ×10−31; symmetry class=0.38, SE=0.10, p=0.001). Mothers of TS probands had high rates of symmetry (49%) but not disinhibition (5%). Polygenic risk scores derived from a TS genome-wide association study (GWAS) were associated with symmetry (p= 0.02), while risk scores derived from an OCD GWAS were not. OCD polygenic risk scores were associated with disinhibition (p =0.03), while TS and ADHD risk scores were not. Conclusions We identified two heritable TS-related endophenotypes that cross traditional diagnostic boundaries. The symmetry phenotype correlated with TS polygenic load, and was present in otherwise “TS-unaffected” mothers, suggesting that this phenotype may reflect additional TS (rather than OCD) genetic liability that is not captured by traditional DSM-based diagnoses. PMID:27809572
RETRACTED: Relationship between the ACE I/D gene polymorphism and T1DN susceptibility/risk of T1DM developing into T1DN in the Caucasian population.

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Zhou, Tian-Biao; Guo, Xue-Feng; Jiang, Zongpei; Li, Hong-Yan

2015-12-01

The following article has been included in a multiple retraction: Tian-Biao Zhou, Xue-Feng Guo, Zongpei Jiang, and Hong-Yan Li Relationship between the ACE I/D gene polymorphism and T1DN susceptibility/risk of T1DM developing into T1DN in the Caucasian population Journal of Renin-Angiotensin-Aldosterone System 1470320314563425, first published on February 1, 2015 doi: 10.1177/1470320314563425 This article has been retracted at the request of the Editors and the Publisher. After conducting a thorough investigation, SAGE found that the submitting authors of a number of papers published in the Journal of the Renin-Angiotensin Aldosterone System ( JRAAS) (listed below) had supplied fabricated contact details for their nominated reviewers. The Editors accepted these papers based on the reports supplied by the individuals using these fake reviewer email accounts. After concluding that the peer review process was therefore seriously compromised, SAGE and the journal Editors have decided to retract all affected articles. Online First articles (these articles will not be published in an issue) Wenzhuang Tang, Tian-Biao Zhou, and Zongpei Jiang Association of the angiotensinogen M235T gene polymorphism with risk of diabetes mellitus developing into diabetic nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563426, first published on December 18, 2014 doi: 10.1177/1470320314563426 Tian-Biao Zhou, Hong-Yan Li, Zong-Pei Jiang, Jia-Fan Zhou, Miao-Fang Huang, and Zhi-Yang Zhou Role of renin-angiotensin-aldosterone system inhibitors in radiation nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563424, first published on December 18, 2014 doi: 10.1177/1470320314563424 Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January
Impact of Tourette Syndrome on School Measures in a Nationally Representative Sample.

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Claussen, Angelika H; Bitsko, Rebecca H; Holbrook, Joseph R; Bloomfield, Jeanette; Giordano, Kathy

2018-05-01

Children with Tourette syndrome (TS) are at risk for a variety of co-occurring conditions and learning and school problems. The purpose of this study was to determine the impact of TS and co-occurring conditions on school measures. Parent-reported data from the 2007-2008 and 2011-2012 National Survey of Children's Health were combined (n = 129,353 children aged 6-17 yrs). Parent report of health care provider diagnosis of TS; co-occurring mental, emotional, and behavioral conditions; learning and language conditions; and school measures were assessed. School measures included type of school, individual education plan (IEP), number of school days missed, school problems, doing well in school, doing homework, and repeating a grade. Children with TS were compared with those who never had TS on school measures accounting for co-occurring conditions. After adjusting for demographics, compared with children without TS, children currently with TS were more likely to have an IEP, have a parent contacted about school problems, and not complete homework. After further adjusting for co-occurring conditions, only IEP status remained statistically significant. Compared with children with mild TS, children with moderate or severe TS were more likely to have an IEP, repeat a grade, encounter school problems, and not care about doing well in school. Tourette syndrome severity and co-occurring conditions are associated with school challenges and educational service needs. Awareness among health care providers, teachers and parents of the potential challenges related to both TS and co-occurring conditions would help to best support the child's education.
Functional characterization of DnSIZ1, a SIZ/PIAS-type SUMO E3 ligase from Dendrobium.

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Liu, Feng; Wang, Xiao; Su, Mengying; Yu, Mengyuan; Zhang, Shengchun; Lai, Jianbin; Yang, Chengwei; Wang, Yaqin

2015-09-17

SUMOylation is an important post-translational modification of eukaryotic proteins that involves the reversible conjugation of a small ubiquitin-related modifier (SUMO) polypeptide to its specific protein substrates, thereby regulating numerous complex cellular processes. The PIAS (protein inhibitor of activated signal transducers and activators of transcription [STAT]) and SIZ (scaffold attachment factor A/B/acinus/PIAS [SAP] and MIZ) proteins are SUMO E3 ligases that modulate SUMO conjugation. The characteristic features and SUMOylation mechanisms of SIZ1 protein in monocotyledon are poorly understood. Here, we examined the functions of a homolog of Arabidopsis SIZ1, a functional SIZ/PIAS-type SUMO E3 ligase from Dendrobium. In Dendrobium, the predicted DnSIZ1 protein has domains that are highly conserved among SIZ/PIAS-type proteins. DnSIZ1 is widely expressed in Dendrobium organs and has a up-regulated trend by treatment with cold, high temperature and wounding. The DnSIZ1 protein localizes to the nucleus and shows SUMO E3 ligase activity when expressed in an Escherichia coli reconstitution system. Moreover, ectopic expression of DnSIZ1 in the Arabidopsis siz1-2 mutant partially complements several phenotypes and results in enhanced levels of SUMO conjugates in plants exposed to heat shock conditions. We observed that DnSIZ1 acts as a negative regulator of flowering transition which may be via a vernalization-induced pathway. In addition, ABA-hypersensitivity of siz1-2 seed germination can be partially suppressed by DnSIZ1. Our results suggest that DnSIZ1 is a functional homolog of the Arabidopsis SIZ1 with SUMO E3 ligase activity and may play an important role in the regulation of Dendrobium stress responses, flowering and development.
Tic Disorders and Tourette’s Syndrome

OpenAIRE

J. Gordon Millichap

1995-01-01

The relationship between Tourette’s syndrome (TS) and chronic tic disorder was evaluated in 71 unselected children referred for psychopharmacological treatment at the Massachusetts General Hospital, Boston.
An introduction to the clinical phenomenology of Tourette syndrome.

Science.gov (United States)

Martino, Davide; Madhusudan, Namrata; Zis, Panagiotis; Cavanna, Andrea E

2013-01-01

Tourette syndrome (TS) is the primary tic disorder that reaches most commonly medical attention and monitoring, with an estimated prevalence close to 1% between 5 and 18 years of age. Motor and phonic tics are the core features of TS. In addition to their well-characterized phenomenology, tics display a peculiar variability over time, which is strongly influenced by a variety of contextual factors. The sensory phenomena of TS are increasingly recognized as another crucial symptom of TS and consist of premonitory urges and somatic hypersensitivity. A relevant proportion of patients with TS display complex, tic-like, repetitive behaviors that include echophenomena, coprophenomena, and nonobscene socially inappropriate behaviors (NOSIBs). The burden of behavioral comorbidities is very important in determining the degree of disability of TS patients. Only a small minority of TS patients presents exclusively with a tic disorder. Obsessive-compulsive symptoms and related disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. Probably, the presence of comorbid attention deficit hyperactivity disorder (ADHD) is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Affective disorders, impulse control disorders, autism spectrum disorders, and personality disorders complete the wide psychopathological spectrum of this condition, but have been less investigated than OCD and ADHD. The complexity of the Tourette spectrum has been confirmed by cluster and factor analytical approaches, and is likely to inform the study of the genetic basis of this disorder, as well as future reappraisal of its nosography, with the development of novel clinical subtypes. © 2013 Elsevier Inc. All rights reserved.

Treatment of Tourette Syndrome with Cannabinoids

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Kirsten R. Müller-Vahl

2013-01-01

Full Text Available Cannabinoids have been used for hundred of years for medical purposes. To day, the cannabinoid delta-9-tetrahydrocannabinol (THC and the cannabis extract nabiximols are approved for the treatment of nausea, anorexia and spasticity, respectively. In Tourette syndrome (TS several anecdotal reports provided evidence that marijuana might be effective not only in the suppression of tics, but also in the treatment of associated behavioural problems. At the present time there are only two controlled trials available investigating the effect of THC in the treatment of TS. Using both self and examiner rating scales, in both studies a significant tic reduction could be observed after treatment with THC compared to placebo, without causing significant adverse effects. Available data about the effect of THC on obsessive-compulsive symptoms are inconsistent. According to a recent Cochrane review on the efficacy of cannabinoids in TS, definite conclusions cannot be drawn, because longer trials including a larger number of patients are missing. Notwithstanding this appraisal, by many experts THC is recommended for the treatment of TS in adult patients, when first line treatments failed to improve the tics. In treatment resistant adult patients, therefore, treatment with THC should be taken into consideration.
Bartter syndrome: presentation in an extremely premature neonate.

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Flores, F X; Ojeda, F J; Calhoun, D A

2013-08-01

Reports of Bartter syndrome in premature neonates are rare. We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and hypercalciuria ,who was diagnosed with neonatal Bartter syndrome. The evaluation, diagnosis and management of neonatal Bartter syndrome in this premature neonate are discussed.
An Abdominal Presentation of Churg-Strauss Syndrome

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Rees, J. R. E.; Burgess, P.

2010-01-01

Churg-Strauss syndrome is a small and medium vessel vasculitis that is also known as allergic granulomatous angiitis. It most commonly presents with an asthma like symptoms. It was first described in Mount Siani Hospital, New York in 1951 by Jacob Churg and Lotte Stauss and was recognised after the study of a series of 13 patients who had asthma, eosinophilia, granulomatous inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital. PMID:20814555
Inhibin A and B in adolescents and young adults with Turner's syndrome and no sign of spontaneous puberty

DEFF Research Database (Denmark)

Gravholt, C.H.; Næraa, R.W.; Andersson, A.M.

2002-01-01

The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity.......The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity....
Turner′s syndrome presenting as metabolic bone disease

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Sadishkumar Kamalanathan

2012-01-01

Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.
Tourette syndrome and comorbid early-onset schizophrenia.

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Kerbeshian, Jacob; Peng, Chun-Zi; Burd, Larry

2009-12-01

A study of the shared phenomenology between Tourette syndrome (TS) and schizophrenia. An illustrative case report is presented. We used a chart review of 399 clinically ascertained patients with TS to identify 10 cases meeting criteria for schizophrenia. From our 10 patients, salient clinical characteristics were then tabulated. We then extracted similar clinical characteristics from a previously published series of patients with comorbid TS and schizophrenia in order to combine cases and allow for a comparison between childhood-onset schizophrenia (COS), adolescent-onset schizophrenia (AdolOS), and adult-onset schizophrenia (AduOS) cases in these groups. We found 10 cases of schizophrenia (all were males) in the 399 TS patients for a prevalence rate of 2.5% (95% CI 0.96-4.04). Mean age of tic onset for TS diagnostic criteria ranged from 2-14 years with a mean of 8.2 years. The mean age of diagnosis for schizophrenia was 14.2 (range 9-23 years). We found six cases of schizophrenia with onset of positive psychotic symptoms by 13 years of age, two cases with onset after 13 years of age and before 18 years of age, and two cases with onset after 18 years of age. Attention deficit hyperactivity disorder was present at a higher rate (70%) than one would expect in a clinically ascertained group of patients with TS. Comparison between COS, AdolOS and AduOS in our pooled cases noted a sex bias skewed toward males. Catatonic symptoms may be more likely in child or adolescent onset cases and negative symptoms more likely in AduOS cases. The 2.5% prevalence of schizophrenia in our TS sample exceeds the 1% expected rate of schizophrenia in the general population (chi-square=9.14; P=.0025). The six cases of COS (before 13 years of age) exceeds the expected rate of 1-2 per 100,000 (chi-square=4499; P=.0001). The 752-fold increase in observed rates of comorbid TS and COS over expected rates suggests a role for unknown common underlying etiologic factors. Based on clinical features
Structural Connectivity in Gilles de la Tourette Syndrome

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Ana B Chelse

2015-04-01

Full Text Available Investigators from Centre de Reference National Maladie Rare ‘Syndrome Gilles de la Tourette’ and Sorbonne University report white matter abnormalities in the pathways connecting the cerebral cortex, basal ganglia, and thalamus in a group of 49 adults with Tourette syndrome (TS.
A controlled study of Tourette syndrome. IV. Obsessions, compulsions, and schizoid behaviors.

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Comings, D E; Comings, B G

1987-01-01

To determine the frequency of obsessive, compulsive, and schizoid behaviors in Tourette syndrome (TS), we prospectively questioned 246 patients with TS, 17 with attention-deficit disorder (ADD), 15 with ADD due to a TS gene, and 47 random controls. The comparative frequency of obsessive, compulsive, and repetitive behaviors--such as obsessive unpleasant thoughts, obsessive silly thoughts, echolalia, palilalia, touching things excessively, touching things a specific number of times, touching others excessively, sexual touching, biting or hurting oneself, head banging, rocking, mimicking others, counting things, and occasional or frequent public exhibitionism--were significantly more common in TS patients than in controls. The frequency of each of these was much higher for grade 3 (severe) TS. Most of these behaviors also occurred significantly more often in individuals with ADD or in individuals with ADD secondary to TS (ADD 2(0) TS). When these features were combined into an obsessive-compulsive score, 45.4% of TS patients had a score of 4-15, whereas 8.5% of controls had a score of 4 or 5. These results indicate that obsessive-compulsive behaviors are an integral part of the expression of the TS gene and can be inherited as an autosomal dominant trait. Schizoid symptoms, such as thinking that people were watching them or plotting against them, were significantly more common in TS patients than in controls. Auditory hallucinations of hearing voices were present in 14.6% of TS patients, compared with 2.1% of controls (P = .02). These symptoms were absent in ADD patients but present in ADD 2(0) TS patients. These voices were often blamed for telling them to do bad things and were frequently identified with the devil. None of the controls had a total schizoid behavior score greater than 3, whereas 10.9% of the TS patients had scores of 4-10 (P = .02). This frequency increased to 20.6% in the grade 3 TS patients. These quantitative results confirm our clinical
RETRACTED: Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population.

Science.gov (United States)

Zhong, Weiqiang; Jiang, Zongpei; Zhou, Tian-Biao

2015-12-01

This article has been included in a multiple retraction: Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January 26, 2015 doi: 10.1177/1470320314566019 This article has been retracted at the request of the Editors and the Publisher. After conducting a thorough investigation, SAGE found that the submitting authors of a number of papers published in the Journal of the Renin-Angiotensin Aldosterone System ( JRAAS) (listed below) had supplied fabricated contact details for their nominated reviewers. The Editors accepted these papers based on the reports supplied by the individuals using these fake reviewer email accounts. After concluding that the peer review process was therefore seriously compromised, SAGE and the journal Editors have decided to retract all affected articles. Online First articles (these articles will not be published in an issue) Wenzhuang Tang, Tian-Biao Zhou, and Zongpei Jiang Association of the angiotensinogen M235T gene polymorphism with risk of diabetes mellitus developing into diabetic nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563426, first published on December 18, 2014 doi: 10.1177/1470320314563426 Tian-Biao Zhou, Hong-Yan Li, Zong-Pei Jiang, Jia-Fan Zhou, Miao-Fang Huang, and Zhi-Yang Zhou Role of renin-angiotensin-aldosterone system inhibitors in radiation nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563424, first published on December 18, 2014 doi: 10.1177/1470320314563424 Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January 26, 2015 doi: 10
An Abdominal Presentation of Churg-Strauss Syndrome

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J. R. E. Rees

2010-01-01

inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital.
Atomoxetine Treatment of ADHD in Children with Comorbid Tourette Syndrome

Science.gov (United States)

Spencer, Thomas J.; Sallee, F. Randy; Gilbert, Donald L.; Dunn, David W.; McCracken, James T.; Coffey, Barbara J.; Budman, Cathy L.; Ricardi, Randall K.; Leonard, Henrietta L.; Allen, Albert J.; Milton, Denai R.; Feldman, Peter D.; Kelsey, Douglas K.; Geller, Daniel A.; Linder, Steven L.; Lewis, Donald W.; Winner, Paul K.; Kurlan, Roger M.; Mintz, Mark

2008-01-01

Objective: This study examines changes in severity of tics and ADHD during atomoxetine treatment in ADHD patients with Tourette syndrome (TS). Method: Subjects (7-17 years old) with ADHD ("Diagnostic and Statistical Manual of Mental Disorders, DSM-IV") and TS were randomly assigned to double-blind treatment with placebo (n = 56) or atomoxetine…
Atypical presentation of HELLP syndrome: clinical case report

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Juan Manuel Tobar Parra

2017-12-01

Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.
The role of atypical antipsychotics for treatment of Tourette's syndrome: an overview.

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Budman, Cathy L

2014-07-01

Tourette's syndrome (TS) is a neuropsychiatric disorder of childhood onset characterized by multiple motor and phonic tics that fluctuate over time. Tic symptoms often improve by late adolescence, but some children and adults with TS may experience significant tic-related morbidity, including social and family problems, academic difficulties, and pain. When more conservative interventions are not successful, and when certain psychiatric co-morbidities further complicate the clinical profile, treating TS with an atypical antipsychotic medication may be a reasonable second-tier approach. However, the evidence supporting efficacy and safety of the atypical antipsychotics for treatment of tics is still very limited. The objective of this paper is to provide an updated overview of the role of atypical antipsychotics for treatment of TS, with evidence-based guidance on their use. Evidence for efficacy of different typical and atypical antipsychotics for treatment of tics was examined by conducting a systematic, keyword-related search of 'atypical antipsychotics' and 'Tourette's syndrome' in PubMed (National Library of Medicine, Washington, DC, USA). Four recent treatment consensus publications were also reviewed. This review focused on literature published from 2000 to 2013 and on available randomized controlled trials in TS. Evidence supporting the use of atypical antipsychotics for treatment of TS is limited. There are few randomized medication treatment trials in TS (i.e. risperidone, aripiprazole, ziprasidone), which employed varying methodologies, thereby restricting meaningful comparisons among studies. Future collaborations among clinical sites with TS expertise employing high-quality study design may better elucidate the role of atypical antipsychotics for treatment of TS.
Early-Onset Diabetic E1-DN Mice Develop Albuminuria and Glomerular Injury Typical of Diabetic Nephropathy

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Mervi E. Hyvönen

2015-01-01

Full Text Available The transgenic E1-DN mice express a kinase-negative epidermal growth factor receptor in their pancreatic islets and are diabetic from two weeks of age due to impaired postnatal growth of β-cell mass. Here, we characterize the development of hyperglycaemia-induced renal injury in the E1-DN mice. Homozygous mice showed increased albumin excretion rate (AER at the age of 10 weeks; the albuminuria increased over time and correlated with blood glucose. Morphometric analysis of PAS-stained histological sections and electron microscopy images revealed mesangial expansion in homozygous E1-DN mice, and glomerular sclerosis was observed in the most hyperglycaemic mice. The albuminuric homozygous mice developed also other structural changes in the glomeruli, including thickening of the glomerular basement membrane and widening of podocyte foot processes that are typical for diabetic nephropathy. Increased apoptosis of podocytes was identified as one mechanism contributing to glomerular injury. In addition, nephrin expression was reduced in the podocytes of albuminuric homozygous E1-DN mice. Tubular changes included altered epithelial cell morphology and increased proliferation. In conclusion, hyperglycaemic E1-DN mice develop albuminuria and glomerular and tubular injury typical of human diabetic nephropathy and can serve as a new model to study the mechanisms leading to the development of diabetic nephropathy.
Effects of Temperature on Chronic Trapezius Myofascial Pain Syndrome during Dry Needling Therapy

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Gang Wang

2014-01-01

Full Text Available The purpose of this study was to investigate the effects of temperature on chronic trapezius myofascial pain syndrome during dry needling therapy. Sixty patients were randomized into two groups of dry needling (DN alone (group A and DN combined with heat therapy group (group B. Each patient was treated once and the therapeutic effect was assessed by the visual analogue scale (VAS, pressure pain threshold (PPT, and the 36-item short form health survey (SF-36 at seven days, one month, and three months after treatment. Evaluation based on VAS and PPT showed that the pain of patients in groups A and B was significantly (P<0.05 relieved at seven days, one month, and three months after treatment Compared to before treatment. There was significantly (P<0.05 less pain in group B than group A at one and three months after treatment. The SF-36 evaluation demonstrated that the physical condition of patients in both groups showed significant (P<0.05 improvement at one month and three months after treatment than before treatment. Our study suggests that both DN and DN heating therapy were effective in the treatment of trapezius MPS, and that DN heating therapy had better long-term effects than DN therapy.
Impact of Tourette Syndrome on School Measures in a Nationally Representative Sample

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Claussen, Angelika H.; Bitsko, Rebecca H.; Holbrook, Joseph R.; Bloomfield, Jeanette; Giordano, Kathy

2018-01-01

Objective Children with Tourette syndrome (TS) are at risk for a variety of co-occurring conditions and learning and school problems. The purpose of this study was to determine the impact of TS and co-occurring conditions on school measures. Methods Parent-reported data from the 2007–2008 and 2011–2012 National Survey of Children’s Health were combined (n = 129,353 children aged 6–17 yrs). Parent report of health care provider diagnosis of TS; co-occurring mental, emotional, and behavioral conditions; learning and language conditions; and school measures were assessed. School measures included type of school, individual education plan (IEP), number of school days missed, school problems, doing well in school, doing homework, and repeating a grade. Children with TS were compared with those who never had TS on school measures accounting for co-occurring conditions. Results After adjusting for demographics, compared with children without TS, children currently with TS were more likely to have an IEP, have a parent contacted about school problems, and not complete homework. After further adjusting for co-occurring conditions, only IEP status remained statistically significant. Compared with children with mild TS, children with moderate or severe TS were more likely to have an IEP, repeat a grade, encounter school problems, and not care about doing well in school. Conclusion Tourette syndrome severity and co-occurring conditions are associated with school challenges and educational service needs. Awareness among health care providers, teachers and parents of the potential challenges related to both TS and co-occurring conditions would help to best support the child’s education. PMID:29432328
Factors impacting the quality of peer relationships of youth with Tourette’s syndrome

OpenAIRE

O’Hare, Deirdre; Eapen, Valsamma; Helmes, Edward; McBain, Kerry; Reece, John; Grove, Rachel

2015-01-01

Background Tourette’s syndrome (TS) is a poorly understood neurodevelopmental disorder consistently associated with impaired peer relationships. This research aimed to investigate the relationship between TS and the ability of diagnosed youth to form secure attachment relationships with peers. A quantitative study examined differences between youth with TS and typically developing peers in social functioning, relationship problems and attachment security. Qualitative studies sought to identif...
NEPHROTIC SYNDROME: PAST, PRESENT AND FUTURE

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M. S. Ignatova

2017-01-01

Full Text Available This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease. Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.
Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome.

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Fikree, A; Aziz, Q; Sifrim, D

2017-06-01

The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment. Esophageal physiology parameters were examined in JHS, subdivided by PoTS status. Fifty-three percent of JHS patients with reflux symptoms had pathological acid reflux, 21% had reflux hypersensitivity, and 25% had functional heartburn. Acid exposure was more likely to be increased in the recumbent than upright position (64% vs 43%). The prevalence of hypotensive lower esophageal sphincter (33%) and hiatus hernia (33%) was low. Forty percent of patients with dysphagia had minor disorders of motility, 60% had functional dysphagia. Eighteen (60%) patients had coexistent PoTS-they had significantly higher dysphagia (21 vs 11.5, P=.04) and reflux scores (24.5 vs 16.5, P=.05), and double the prevalence of pathological acid reflux (64% vs 36%, P=.1) and esophageal dysmotility (50% vs 25%, P=.2) though this was not significant. A large proportion of JHS patients with esophageal symptoms have true reflux-related symptoms or mild esophageal hypomotility, and this is more likely if they have PoTS. © 2017 John Wiley & Sons Ltd.
Catecholamine-related gene expression in blood correlates with tic severity in tourette syndrome

NARCIS (Netherlands)

Gunther, Joan; Tian, Yingfang; Stamova, Boryana; Lit, Lisa; Corbett, Blythe; Ander, Brad; Zhan, Xinhua; Jickling, Glen; Bos-Veneman, Netty; Liu, Da; Hoekstra, Pieter; Sharp, Frank

2012-01-01

Tourette syndrome (TS) is a heritable disorder characterized by tics that are decreased in some patients by treatment with alpha adrenergic agonists and dopamine receptor blockers. Thus, this study examines the relationship between catecholamine gene expression in blood and tic severity. TS

An Interview with Susan Conners: An Educator's Observations about Living with and Educating Others about Tourette's Syndrome.

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Chamberlain, Steven P.

2003-01-01

In this interview with Susan Conners, a middle school French teacher who has lived with Tourette syndrome (TS) since age 6, she discusses her lack of diagnosis until age 36, difficulties in school, why TS should be listed under "Other Health Impaired" in federal legislation, characteristics of TS, and interventions. (Contains…
Quasirecognition by prime graph of finite simple groups ${}^2D_n(3$

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Behrooz Khosravi

2014-12-01

Full Text Available Let $G$ be a finite group. In [Ghasemabadi et al., characterizations of the simple group ${}^2D_n(3$ by prime graph and spectrum, Monatsh Math., 2011] it is proved that if $n$ is odd, then ${}^2D _n(3$ is recognizable by prime graph and also by element orders. In this paper we prove that if $n$ is even, then $D={}^2D_{n}(3$ is quasirecognizable by prime graph, i.e. every finite group $G$ with $Gamma(G=Gamma(D$ has a unique nonabelian composition factor and this factor is isomorphic to $D$.
Tourette's Syndrome: Performance on Tests of Behavioural Inhibition, Working Memory and Gambling

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Crawford, Sarah; Channon, Shelley; Robertson, Mary M.

2005-01-01

Background: Tourette's syndrome (TS) is a neurodevelopmental disorder associated with fronto-striatal dysfunction. There is debate as to the extent to which TS is associated with cognitive impairment. Some authors argue that any impairments seen are attributable to comorbid psychiatric symptomatology, whilst others have suggested that…
Functional neuroimaging in Tourette syndrome: recent perspectives

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Debes NM

2017-04-01

Full Text Available Nanette Mol Debes, Marie Préel, Liselotte Skov Pediatric Department, Tourette Clinic, Herlev University Hospital, Herlev, DenmarkAbstract: The most recent functional neuroimaging studies on Tourette syndrome (TS are reviewed in this paper. Although it can be difficult to compare functional neuroimaging studies due to differences in methods, differences in age of the included subjects, and differences in the extent to which the presence of comorbidity, medical treatment, and severity of tics are considered in the various studies; most studies show that the cortico-striato-thalamo-cortical circuit seems to be involved in the generation of tics. Changes in this circuit seem to be correlated with tic severity. Correlations have been found between the presence of tics and hypermetabolism in various brain regions. Abnormalities of GABAergic, serotonergic, and dopaminergic neurotransmission in patients with TS have been suggested. During tic suppression, increased activity in the inferior frontal gyrus is seen. The premotor cortex might be involved in inhibition of motor control in subjects with TS. The right anterior insula is suggested to be a part of the urge–tic network. Several studies have shown altered motor network activations and sensorimotor gating deficits in subjects with TS. In future studies, inclusion of more well-defined subjects and further examination of premonitory urge and tic suppression is needed in order to increase the knowledge about the pathophysiology and treatment possibilities of TS. Keywords: functional neuroimaging, Tourette syndrome
The Impact of Tourette's Syndrome in the School and the Family: Perspectives from Three Stakeholder Groups

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Rivera-Navarro, Jesús; Cubo, Esther; Almazán, Javier

2014-01-01

This article analyzes the perceptions of Spanish health professionals, children with Tourette's Syndrome (TS) and their parents about social, school and family problems related to the disorder. A qualitative research methodology was used involving Focus Groups (FGs) made up of children with TS (× 2 FGs), parents/caregivers of persons with TS (× 2…
"Not just right experiences" in patients with Tourette syndrome: complex motor tics or compulsions?

Science.gov (United States)

Neal, Matthew; Cavanna, Andrea Eugenio

2013-12-15

Tourette syndrome (TS) is a chronic tic disorder often accompanied by specific obsessive-compulsive symptoms (OCS) or full-blown obsessive-compulsive disorder (OCD). Repetitive behaviours are commonly reported by patients with TS, who experience the urge to perform an action until it has been done "just right". This study investigated the clinical correlates of "not just right experiences" (NJREs) in this clinical population. A standardised battery of self-report psychometric measures was administered to 71 adult patients with TS recruited from a specialist TS clinic. NJREs were systematically screened for using the Not Just Right Experiences-Questionnaire Revised (NJRE-QR). The vast majority of patients in our clinical sample (n=57, 80%) reported at least one NJRE. Patients diagnosed with TS and co-morbid OCD/OCS (n=42, 59%) reported a significantly higher number of NJREs compared to TS patients without OCD/OCS. The strongest correlation was found between NJRE-QR scores and self-report measures of compulsivity. NJREs appear to be intrinsic to the clinical phenomenology of patients with TS and can present with higher frequency in the context of co-morbid OCD/OCS, suggesting they are more related to compulsions than tics. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Tourette Syndrome and comorbid ADHD: current pharmacological treatment options.

Science.gov (United States)

Rizzo, Renata; Gulisano, Mariangela; Calì, Paola V; Curatolo, Paolo

2013-09-01

Attention Deficit Hyperactivity Disorder (ADHD) is the most common co-morbid condition encountered in people with tics and Tourette Syndrome (TS). The co-occurrence of TS and ADHD is associated with a higher psychopathological, social and academic impairment and the management may represent a challenge for the clinicians. To review recent advances in management of patients with tic, Tourette Syndrome and comorbid Attention Deficit Hyperactivity Disorder. We searched peer reviewed and original medical publications (PUBMED 1990-2012) and included randomized, double-blind, controlled trials related to pharmacological treatment for tic and TS used in children and adolescents with comorbid ADHD. "Tourette Syndrome" or "Tic" and "ADHD", were cross referenced with the words "pharmacological treatment", "α-agonist", "psychostimulants", "selective norepinephrine reuptake inhibitor", "antipsychotics". Three classes of drugs are currently used in the treatment of TS and comorbid ADHD: α-agonists (clonidine and guanfacine), stimulants (amphetamine enantiomers, methylphenidate enantiomers or slow release preparation), and selective norepinephrine reuptake inhibitor (atomoxetine). It has been recently suggested that in a few selected cases partial dopamine agonists (aripiprazole) could be useful. Level A of evidence supported the use of noradrenergic agents (clonidine). Reuptake inhibitors (atomoxetine) and stimulants (methylphenidate) could be, also used for the treatment of TS and comorbid ADHD. Taking into account the risk-benefit profile, clonidine could be used as the first line treatment. However only few studies meet rigorous quality criteria in terms of study design and methodology; most trials have low statistical power due to small sample size or short duration. Treatment should be "symptom targeted" and personalized for each patient. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Tourette's syndrome: from demonic possession and psychoanalysis to the discovery of gene

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Francisco M.B. Germiniani

2012-07-01

Full Text Available In this paper we make a brief historical review of the hypothesis concerning the etiology of Tourette's syndrome (TS, focusing on varying trends over time: at first, its presumed relation to witchcraft and demonic possessions, followed by the psychoanalytical theory, which attributed TS to a masturbatory equivalent. Then, progressing to modern time, to the immunological theory and finally the advent of genetics and their role in the etiology of TS.
Tourette syndrome research highlights 2015 [version 1; referees: 3 approved

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Cheryl A. Richards

2016-06-01

Full Text Available We present selected highlights from research that appeared during 2015 on Tourette syndrome and other tic disorders. Topics include phenomenology, comorbidities, developmental course, genetics, animal models, neuroimaging, electrophysiology, pharmacology, and treatment. We briefly summarize articles whose results we believe may lead to new treatments, additional research or modifications in current models of TS.
Altered monocyte activation markers in Tourette’s syndrome: a case–control study

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Matz Judith

2012-05-01

Full Text Available Abstract Background Infections and immunological processes are likely to be involved in the pathogenesis of Tourette’s syndrome (TS. To determine possible common underlying immunological mechanisms, we focused on innate immunity and studied markers of inflammation, monocytes, and monocyte-derived cytokines. Methods In a cross-sectional study, we used current methods to determine the number of monocytes and levels of C-reactive protein (CRP in 46 children, adolescents, and adult patients suffering from TS and in 43 healthy controls matched for age and sex. Tumor necrosis factor alpha (TNF-alpha, interleukin 6 (IL-6, soluble CD14 (sCD14, IL1-receptor antagonist (IL1-ra, and serum neopterin were detected by immunoassays. Results We found that CRP and neopterin levels and the number of monocytes were significantly higher in TS patients than in healthy controls. Serum concentrations of TNF-alpha, sIL1-ra, and sCD14 were significantly lower in TS patients. All measured values were within normal ranges and often close to detection limits. Conclusions The present results point to a monocyte dysregulation in TS. This possible dysbalance in innate immunity could predispose to infections or autoimmune reactions.
Movable Thomson scattering system based on optical fiber (TS-probe)

International Nuclear Information System (INIS)

Narihara, K.; Hayashi, H.

2009-01-01

This paper proposes a movable compact Thomson scattering (TS) system based on optical fibers (TS-probe). A TS-probe consists of a probe head, optical fiber, a laser-diode, polychromators and lock-in amplifiers. A laser beam optics and light collection optics are mounted rigidly on a probe head with a fixed scattering position. Laser light and scattered light are transmitted by flexible optical fibers, enabling us to move the TS-prove head freely during plasma discharge. The light signal scattered from an amplitude-modulated laser is detected against the plasma light based on the principle of the lock-in amplifier. With a modulated laser power of 300W, the scattered signal from a sheet plasma of 15 mm depth and n e -10 19 m -3 will be measured with 10% accuracy by setting the integrating time to 0.1 s. The TS-probe head is like a 1/20 model of the currently operating LHD-TS. (author)
A Qualitative Exploration of the Experiences of Children and Adolescents with Tourette Syndrome

Science.gov (United States)

Edwards, Kim R.; Mendlowitz, Sandra; Jackson, Elana; Champigny, Claire; Specht, Matt; Arnold, Paul; Gorman, Daniel; Dimitropoulos, Gina

2017-01-01

Objective The purpose of this qualitative study was to explore the experiences of youth with Tourette Syndrome (TS). Method Thirteen participants with TS were recruited from a large tertiary care hospital to complete semi-structured interviews and two questionnaires pertaining to demographic information and tic severity. Thematic analysis was utilized to systematically analyze the data. Results Three main themes were identified: 1) beliefs about TS; 2) TS related distress and impairment; and, 3) coping with TS. Conclusion The findings from this study suggest that most participants were aware of their tics but unaware of the cause of tics/TS. The interviews also highlighted that, for most participants, TS caused emotional, social, physical, and/or occupational impairment. Despite their distress, participants provided several suggestions for coping with TS and for supporting those who are diagnosed with this condition. PMID:28331502
Second Generation HTs Wire Based on RABiTS Substrates and MOD YBCO

Energy Technology Data Exchange (ETDEWEB)

Schoop, U. [American Superconductor Corporation, Westborough, MA; Rupich, Marty [American Superconductor Corporation, Westborough, MA; Thieme, C. L. H. [American Superconductor Corporation, Westborough, MA; Verebelyi, D. T. [American Superconductor Corporation, Westborough, MA; Zhang, W. [American Superconductor Corporation, Westborough, MA; Li, Xiaoping [American Superconductor Corporation, Westborough, MA; Kodenkandath, Thomas [American Superconductor Corporation, Westborough, MA; Nguyen, N. [American Superconductor Corporation, Westborough, MA; Siegal, E. E. [American Superconductor Corporation, Westborough, MA; Civale, L. [Los Alamos National Laboratory (LANL); Holesinger, T. G. [Los Alamos National Laboratory (LANL); Maiorov, B. [Los Alamos National Laboratory (LANL); Goyal, Amit [ORNL; Paranthaman, Mariappan Parans [ORNL

2005-01-01

The performance of Second Generation (2G) high temperature superconducting wire manufactured by continuous reel-to-reel processes is nearing the 300 A/cm-width (77 K, self field) performance threshold for commercial power cable applications. The 2G manufacturing approach under development at American Superconductor is based on the combination of the RABiTS substrate-buffer technology with metal organic deposition (MOD) of the YBCO layer. The capability of this process has been demonstrated in multiple 10 meter lengths with critical currents exceeding 250 A/cm-width with high uniformity and reproducibility. Critical currents of 380 A/cm-width have been achieved in short length samples prepared by the same basic process. The incorporation of nanoparticles ('nanodots') into the YBCO layer using the MOD process has resulted in a 2-fold improvement in the critical current at 65 K in a 3 T field. The research and development focus at ASMC is now directed toward the economical scale-up of the RABiTS/MOD process, optimization of the conductor properties for targeted applications and the use of 2G wire in initial demonstration applications.
REAC/TS radiation accident registry. Update of accidents in the United States

International Nuclear Information System (INIS)

Ricks, R.C.; Berger, M.E.; Holloway, E.C.; Goans, R.E.

2000-01-01

Serious injury due to ionizing radiation is a rare occurrence. From 1944 to the present, 243 US accidents meeting dose criteria for classification as serious are documented in the REAC/TS Registry. Thirty individuals have lost their lives in radiation accidents in the United States. The Registry is part of the overall REAC/TS program providing 24-hour direct or consultative assistance regarding medical and heath physics problems associated with radiation accidents in local, national, and international incidents. The REAC/TS Registry serves as a repository of medically important information documenting the consequences of these accidents. Registry data are gathered from various sources. These include reports from the World Heath Organization (WHO), International Atomic Energy Agency (IAEA), US Nuclear Regulatory Commission (US NRC), state radiological health departments, medical/health physics literature, personal communication, the Internet, and most frequently, from calls for medical assistance to REAC/TS, as part of our 24-hour medical assistance program. The REAC/TS Registry for documentation of radiation accidents serves several useful purposes: 1) weaknesses in design, safety practices, training or control can be identified, and trends noted; 2) information regarding the medical consequences of injuries and the efficacy of treatment protocols is available to the treating physician; and 3) Registry case studies serve as valuable teaching tools. This presentation will review and summarize data on the US radiation accidents including their classification by device, accident circumstances, and frequency by respective states. Data regarding accidents with fatal outcomes will be reviewed. The inclusion of Registry data in the IAEA's International Reporting System of Radiation Events (RADEV) will also be discussed. (author)
Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study.

Science.gov (United States)

Zhang, Qiang; Guo, Xiaohong; Tian, Tian; Wang, Teng; Li, Qiaoli; Wang, Lei; Liu, Yun; Xing, Qinghe; He, Lin; Zhao, Xinzhi

2017-05-01

Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay. X chromosome dosage was calculated according to the methylation level of multiple XIDMSs. Overall, 108 candidate XIDMSs were screened by the 450k array. Validations indicated that XIDMSs gathered and formed the X-chromosome inactivation specific differentially methylated regions (XIDMRs). Using 3 XIDMRs at SAT1, UXT and UTP14A loci, 36 TS, 22 normal female and 6 male samples were analyzed. Methylation levels of the 20 XIDMSs in the XIDMRs could distinguish between TS and normal female DNA samples, the X chromosome dosage was consistent with karyotyping data. Analyzing samples of 2 triple X syndrome and 3 Klinefelter syndrome patients suggested that this method could be used to detect X chromosome aneuploids other than TS. XIDMSs are widely spread along the X chromosome and might be effective markers for detection of TS and other X chromosome aneuploids. Copyright © 2017 Elsevier B.V. All rights reserved.
Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.

Science.gov (United States)

Jeż, Wacław; Tobiasz-Adamczyk, Beata; Brzyski, Piotr; Majkowicz, Mikołaj; Pankiewicz, Piotr; Irzyniec, Tomasz J

2018-02-01

Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.
Habituation of Premonitory Sensations during Exposure and Response Prevention Treatment in Tourette's Syndrome

Science.gov (United States)

Verdellen, Cara W. J.; Hoogduin, Cees A. L.; Kato, Bernet S.; Keijsers, Ger P. J.; Cath, Danielle C.; Hoijtink, Herbert B.

2008-01-01

Exposure to premonitory sensations and response prevention of tics (ER) has been shown to be a promising new treatment for Tourette's syndrome (TS). The present study tested the hypothesis that habituation to unpleasant premonitory sensations associated with the tic is an underlying mechanism of change in ER. Patients rated the severity of…
Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Timmermans, J.; Beerendonk, C.C.M.; Verhaak, C.M.; Netea-Maier, R.T.; Otten, B.J.; Braat, D.D.M.; Smeets, D.F.C.M.; Kunst, D.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

2011-01-01

CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective
Tourette Syndrome: A Case for Establishing the Individual Needs of Children at Risk.

Science.gov (United States)

Wilson, Jeni; Shrimpton, Bradley

Tourette Syndrome (TS) is a neurological disorder characterized by multiple, involuntary, and repetitive motor and vocal tics. This paper addresses the educational needs of students with TS noting that, without proper intervention and appropriate learning experiences, these children often experience personal distress, reduced self-esteem, social…
The TS 600: automatic control system for eddy currents

International Nuclear Information System (INIS)

Poulet, J.P.

1986-10-01

In the scope of fabrication and in service inspection of the PWR steam generator tubing bendle, FRAMATOME developed an automatic Eddy Current testing system: TS600. Based on a mini-computer, TS600 allows to digitize, to store and to process data in various ways, so it is possible to perform several kinds of inspection: conventional inservice inspection, roll area profilometry...... TS600 can also be used to develop new methods of examination [fr

Antigen-presenting cells transfected with Hsp65 messenger RNA fail to treat experimental tuberculosis

Energy Technology Data Exchange (ETDEWEB)

Rocha, C.D.; Trombone, A.P.F.; Lorenzi, J.C.C.; Almeida, L.P.; Gembre, A.F.; Padilha, E. [Departamento de Bioquímica e Imunologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Ramos, S.G. [Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Silva, C.L.; Coelho-Castelo, A.A.M. [Departamento de Bioquímica e Imunologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil)

2012-09-21

In the last several years, the use of dendritic cells has been studied as a therapeutic strategy against tumors. Dendritic cells can be pulsed with peptides or full-length protein, or they can be transfected with DNA or RNA. However, comparative studies suggest that transfecting dendritic cells with messenger RNA (mRNA) is superior to other antigen-loading techniques in generating immunocompetent dendritic cells. In the present study, we evaluated a new therapeutic strategy to fight tuberculosis using dendritic cells and macrophages transfected with Hsp65 mRNA. First, we demonstrated that antigen-presenting cells transfected with Hsp65 mRNA exhibit a higher level of expression of co-stimulatory molecules, suggesting that Hsp65 mRNA has immunostimulatory properties. We also demonstrated that spleen cells obtained from animals immunized with mock and Hsp65 mRNA-transfected dendritic cells were able to generate a mixed Th1/Th2 response with production not only of IFN-γ but also of IL-5 and IL-10. In contrast, cells recovered from mice immunized with Hsp65 mRNA-transfected macrophages were able to produce only IL-5. When mice were infected with Mycobacterium tuberculosis and treated with antigen-presenting cells transfected with Hsp65 mRNA (therapeutic immunization), we did not detect any decrease in the lung bacterial load or any preservation of the lung parenchyma, indicating the inability of transfected cells to confer curative effects against tuberculosis. In spite of the lack of therapeutic efficacy, this study reports for the first time the use of antigen-presenting cells transfected with mRNA in experimental tuberculosis.
Endogenous Nampt upregulation is associated with diabetic nephropathy inflammatory-fibrosis through the NF-κB p65 and Sirt1 pathway; NMN alleviates diabetic nephropathy inflammatory-fibrosis by inhibiting endogenous Nampt.

Science.gov (United States)

Chen, Ye; Liang, Yuzhen; Hu, Tingting; Wei, Riming; Cai, Congjie; Wang, Ping; Wang, Lingyu; Qiao, Wei; Feng, Leping

2017-11-01

Nicotinamide phosphoribosyltransferase (Nampt) is a key enzyme in the nicotinamide adenine dinucleotide (NAD + ) biosynthetic pathway. Exogenous extra cellular Nampt has been reported to increase the synthesis of pro-fibrotic molecules in various types of renal cells. However, the role of endogenous Namptenzymatic activity in diabetic renal cells, particularly those associated with inflammation and fibrosis through the nuclear factor (NF)-κB p65 and sirtuin 1 (Sirt1) pathway is still unknown. In the present study, a possible mechanism by which endogenous Nampt upregulation affects the expression of pro-inflammatory and pro-fibrotic cytokines in vivo and in vitro , is reported. The present results demonstrate that the expression of vimentin and fibronectin was directly implicated in endogenous Nampt upregulation. The expression levels of Poly(ADP-ribose) polymerase-1, NF-κB p65, forkhead box protein O1 and B-cell lymphoma 2-like protein 4 were also significantly increased at 96 h compared with control group (Pendogenous Nampt upregulation. Furthermore, the expression level of Sirt1 was significantly reduced (Pendogenous Nampt upregulation may be critical in the treatment of DN pro-inflammatory fibrosis and NMN is likely to be a potential pharmacological agent for the treatment of resistant DN nephritic fibrosis.
TS-EUROTRAIN

DEFF Research Database (Denmark)

Forde, Natalie J; Kanaan, Ahmad S; Widomska, Joanna

2016-01-01

Gilles de la Tourette Syndrome (GTS) is characterized by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency, and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD...
Thyroid storm presenting as psychosis: masked by diabetic ketoacidosis

Directory of Open Access Journals (Sweden)

Raafia Memon

2016-09-01

Full Text Available Introduction: While extremely uncommon, diabetic ketoacidosis (DKA and thyroid storm (TS are endocrine emergencies that can coexist. We describe a case with a confounding clinical presentation that identifies these two emergencies within the setting of sepsis and influenza. Case: A 69-year-old diabetic female was found by the paramedic staff to be disoriented. She demonstrated tachycardia and had a foul-smelling abdominal wound. Laboratory evaluation revealed DKA, leukocytosis, influenza B, and urinary tract infection. After appropriate management in the intensive care unit, the DKA resolved the following morning. However, the patient developed a fever, and her psychosis became more pronounced. Extensive analysis was performed but did not explain her mental status. The patient was found to have thyroid stimulating hormone of 0.06 mIU/mL, free T4 (thyroxine of 2.38 ng/dL, and total T3 (triiodothyronine of 72 ng/dL. Based on the Burch and Wartofsky criteria (score of 65, TS was diagnosed. Based on more recent diagnostic criteria suggested by Akamizu et al., the patient met criteria for TS grade 1. Within several hours of initiating treatment, the patient's mental state and tachycardia improved, and her psychosis resolved by the third day. Conclusion: This case highlights the importance of recognizing the clinical diagnosis of TS, as the magnitude of thyroid hormone derangements may not correlate with clinical severity. While rare, DKA and TS can simultaneously occur and are associated with increased morbidity and mortality if not promptly recognized and treated.
Comprehensive Behavioral Intervention for Tics in Children with Tourette Syndrome

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Woods, Douglas W.; Piacentini, John C.; Walkup, John T.

2010-01-01

Tourette syndrome (TS) is one of three separate tic disorders. By definition, children with TS must have at least two motor (movement) tics and one vocal (or sound tic) for at least a year. The other tic disorders are chronic tic disorder (motor or vocal tics, but not both for at least one year) and transient tic disorder (motor and/or vocal tics…
Advances in the Behavior Analytic Treatment of Trichotillomania and Tourette's Syndrome

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Himle, Michael B.; Flessner, Christopher A.; Woods, Douglas W.

2004-01-01

Tourette's Syndrome (TS) and Trichotillomania (TTM) are both subsumed under a larger category of repetitive behavior disorders. The purpose of this paper is to provide an overview of the most recent behavioral research on TS and TTM. A description of both disorders is provided along with the most recent research on their etiology and maintenance.…
DN2 Thymocytes Activate a Specific Robust DNA Damage Response to Ionizing Radiation-Induced DNA Double-Strand Breaks

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Irene Calvo-Asensio

2018-06-01

Full Text Available For successful bone marrow transplantation (BMT, a preconditioning regime involving chemo and radiotherapy is used that results in DNA damage to both hematopoietic and stromal elements. Following radiation exposure, it is well recognized that a single wave of host-derived thymocytes reconstitutes the irradiated thymus, with donor-derived thymocytes appearing about 7 days post BMT. Our previous studies have demonstrated that, in the presence of donor hematopoietic cells lacking T lineage potential, these host-derived thymocytes are able to generate a polyclonal cohort of functionally mature peripheral T cells numerically comprising ~25% of the peripheral T cell pool of euthymic mice. Importantly, we demonstrated that radioresistant CD44+ CD25+ CD117+ DN2 progenitors were responsible for this thymic auto-reconstitution. Until recently, the mechanisms underlying the radioresistance of DN2 progenitors were unknown. Herein, we have used the in vitro “Plastic Thymus” culture system to perform a detailed investigation of the mechanisms responsible for the high radioresistance of DN2 cells compared with radiosensitive hematopoietic stem cells. Our results indicate that several aspects of DN2 biology, such as (i rapid DNA damage response (DDR activation in response to ionizing radiation-induced DNA damage, (ii efficient repair of DNA double-strand breaks, and (iii induction of a protective G1/S checkpoint contribute to promoting DN2 cell survival post-irradiation. We have previously shown that hypoxia increases the radioresistance of bone marrow stromal cells in vitro, at least in part by enhancing their DNA double-strand break (DNA DSB repair capacity. Since the thymus is also a hypoxic environment, we investigated the potential effects of hypoxia on the DDR of DN2 thymocytes. Finally, we demonstrate for the first time that de novo DN2 thymocytes are able to rapidly repair DNA DSBs following thymic irradiation in vivo.
MRI volume measurement of basal ganglia volumes in patients with Tourette's syndrome

International Nuclear Information System (INIS)

Lu Jie; Li Kuncheng; Cao Yanxiang; Zhang Miao; Sui Xin; Zhang Xiaohua

2009-01-01

Objective: To evaluate MRI measurement of basal ganglia volumes in patients with Tourette's syndrome. Methods: Ten patients with Tourette's syndrome (TS) and 10 healthy volunteers were studied. Volumes of bilateral caudate, putamen and pallidum were measured, and the results were analyzed using paired t test. The basal ganglia volume was normalized according to individual brain volume. The basal ganglia volumes of TS patients were compared with normal control group using independent-sample t test. Results: In 10 healthy volunteers, volumes of the left caudate, putamen, pallidum were significantly larger compared with those of the right side (P 0.05) in TS patients. After normalized processing, the volumes of the left caudate (7.06 ± 0.48) cm 3 , putamen (8.81±1.01) cm 3 , pallidum (2.64± 0.38) cm 3 were smaller than those of control group [caudate (11.05±1.86) cm 3 , putamen (9.97± 1.11) cm 3 , pallidum (3.04±0.37) cm 3 ] (t=-6.577, -2.457, -2.376, P 3 in TS patients was significantly smaller compared with the control group (9.81±1.83) cm 3 (t=-4.258, P 0.05). Conclusion: The basal ganglia volumes were significantly decreased in patients with TS. MRI volumetric measurement was an important tool for evaluating pathologic changes of TS. (authors)
Tourette Syndrome and Tic Disorders: A Decade of Progress

Science.gov (United States)

Swain, James E.; Scahill, Lawrence; Lombroso, Paul J.; King, Robert A.; Leckman, James F.

2007-01-01

Objective: This is a review of progress made in the understanding of Tourette syndrome (TS) during the past decade including models of pathogenesis, state-of-the-art assessment techniques, and treatment. Method: Computerized literature searches were conducted under the key words "Tourette syndrome," "Tourette disorder," and "tics." Only references…
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

NARCIS (Netherlands)

Huang, Alden Y.; Yu, Dongmei; Davis, Lea K; Sul, Jae Hoon; Tsetsos, Fotis; Ramensky, Vasily; Zelaya, Ivette; Ramos, Eliana Marisa; Osiecki, Lisa; Chen, Jason A.; McGrath, Lauren M; Illmann, Cornelia; Sandor, Paul; Barr, Cathy L; Grados, Marco A; Singer, Harvey S; Nöthen, Markus M.; Hebebrand, Johannes; King, Robert A; Dion, Yves; Rouleau, Guy A; Budman, Cathy L; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Müller-Vahl, Kirsten R; Stuhrmann, Manfred; Aschauer, Harald; Stamenkovic, Mara; Schloegelhofer, Monika; Konstantinidis, Anastasios; Lyon, Gholson J; McMahon, William M; Barta, Csaba; Tarnok, Zsanett; Nagy, Peter; Batterson, James R.; Rizzo, Renata; Cath, Danielle C.; Wolanczyk, Tomasz; Berlin, Cheston; Malaty, Irene A.; Okun, Michael S.; Woods, Douglas W.; Rees, Elliott; Pato, Carlos N; Pato, Michele T; Knowles, James A; Posthuma, Danielle; Pauls, David L; Cox, Nancy J; Neale, Benjamin M; Freimer, Nelson B; Paschou, Peristera; Mathews, Carol A; Scharf, Jeremiah M; Coppola, Giovanni; Bruun, Ruth D; Chouinard, Sylvain; Darrow, Sabrina M; Greenberg, Erica; Hirschtritt, Matthew E; Kurlan, Roger; Leckman, James F; Robertson, Mary M; Smit, Jan

2017-01-01

Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been
Comorbid behavioural problems in Tourette's syndrome are positively correlated with the severity of tic symptoms.

Science.gov (United States)

Zhu, Yan; Leung, Kai Man; Liu, Po-zi; Zhou, Ming; Su, Lin-yan

2006-01-01

We studied the comorbid behavioural and mood problems in children with non-psychiatric Tourette's syndrome (TS) and their relationship with severity of tic disorder. Sixty-nine TS children and 69 healthy controls were assessed by Child Behavior Checklist (CBCL) and Yale Global Tic Severity Scale (YGTSS). The relationships between behavioural problems and severity of tic symptoms were analysed statistically by comparison, correlation and multiple linear regression. Tourette's syndrome patients scored significantly lower (ptic symptoms is positively correlated with the severity of overall impairment in school and social competence. When the behavioural and mood problems commonly associated with TS were studied in detail, we found that delinquent behaviour, thought problems, attention problems, aggressive behaviour and externalizing are positively correlated with severity of tic symptoms. The findings indicated that children with TS-only also had a broad range of behavioural problems, and some of these were related to the severity of tic symptoms.
DN/DG Screening of Environmental Swipe Samples: FY2016 Report

Energy Technology Data Exchange (ETDEWEB)

Glasgow, David C. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Croft, Stephen [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Venkataraman, Ramkumar [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); McElroy, Robert Dennis [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Knowles, Justin R. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States)

2017-02-01

The Delayed Neutron Delayed Gamma (DNDG) technique provides a new analytical capability to the International Atomic Energy Agency (IAEA) for detecting undeclared nuclear activities. IAEA’s Long Term R&D (LTRD) plan has a stated high urgency need to develop elemental and isotopic signatures of nuclear fuel cycle activities and processes (LTRD 2.2). The new DNDG capability is used to co-detect both uranium and plutonium as an extension of a DN only method that is already being utilized by the IAEA for the analysis of swipes to inform on undeclared nuclear activities. Analytical method involving irradiation of swipe samples potentially containing trace quantities of fissile material in a thermal neutron field, followed by the counting of delayed neutrons, is a well-known technique in the field of safeguards and nonproliferation. It is used for detecting the presence of microscopic amounts of fissile material, (typically a linear combination of ²³³U, ²³⁵U, ²³⁹Pu, and ²⁴¹Pu)and quantifying it in terms of the equivalent mass of 235U. The delayed neutron (DN) technique is very sensitive and is been routinely employed at the High Flux Isotope Reactor (HFIR) facility at Oak Ridge National Laboratory (ORNL). Both uranium and plutonium are of high safeguards value. However, the DN technique is not well suited for distinguishing between U and Pu isotopes since the decay curves overlap closely. The delayed gamma (DG) technique will help detect the presence of 239Pu in a mixture of U and Pu. Thus the DNDG approach combines the best of both worlds; the sensitivity of DN counting and the isotopic specificity of DG counting. The present work seeks to build on the delayed neutron and delayed gamma methods that have been developed at ORNL. It is recognized that the distribution profile of heavy fission products remains fairly invariant for the fissile nuclides whereas the distribution of light fission products varies from one isotope to
Comprehension of direct and indirect sarcastic remarks in children and adolescents with Tourette's syndrome.

Science.gov (United States)

Drury, Helena; Shah, Shivani; Stern, Jeremy S; Crawford, Sarah; Channon, Shelley

2018-05-01

Previous research has reported that aspects of social cognition such as nonliteral language comprehension are impaired in adults with Tourette's syndrome (TS), but little is known about social cognition in children and adolescents with TS. The present study aims to evaluate a measure of sarcasm comprehension suitable for use with children and adolescents (Experiment 1), and to examine sarcasm comprehension in children and adolescents with TS-alone or TS and attention deficit hyperactivity disorder (ADHD; Experiment 2). In Experiment 1, the measure of sarcasm comprehension was found to be sensitive to differences in nonliteral language comprehension for typically-developing children aged 10 to 11 years old compared to children aged 8 to 9 years old; the older group performed significantly better on the comprehension of scenarios ending with either direct or indirect sarcastic remarks, whereas the two age groups did not differ on the comprehension of scenarios ending with sincere remarks. In Experiment 2, both the TS-alone and TS+ADHD groups performed below the level of the control participants on the comprehension of indirect sarcasm items but not on the comprehension of direct sarcasm items and sincere items. Those with TS+ADHD also performed below the level of the control participants on measures of interference control and fluency. The findings are discussed with reference to the possible contribution of executive functioning and mentalizing to the patterns of performance.
Consumption of a fermented dairy product containing the probiotic Lactobacillus casei DN-114001 reduces the duration of respiratory infections in the elderly in a randomised controlled trial.

Science.gov (United States)

Guillemard, E; Tondu, F; Lacoin, F; Schrezenmeir, J

2010-01-01

Common infectious diseases (CID) of the airways and the gastrointestinal tract are still a considerable cause of morbidity and mortality in elderly. The present study examined the beneficial effect of a dairy product containing the probiotic strain Lactobacillus casei DN-114 001 (fermented product) on the resistance of free-living elderly to CID. The study was multicentric, double blind and controlled, involving 1072 volunteers (median age = 76.0 years) randomised for consumption of either 200 g/d of fermented (n 537) or control (non-fermented) dairy product (n 535) for 3 months, followed by an additional 1 month's follow-up. The results showed that, when considering all CID, the fermented product significantly reduced the average duration per episode of CID (6.5 v. 8 d in control group; P = 0.008) and the cumulative duration of CID (7 v. 8 d in control group; P = 0.009). Reduction in both episode and cumulative durations was also significant for all upper respiratory tract infections (URTI; P fermented product consumption (2-3.8 x 107 equivalents of colony-forming unit/g of stools, P fermented product was safe and well tolerated. In conclusion, consumption of a fermented dairy product containing the probiotic strain L. casei DN-114 001 in elderly was associated with a decreased duration of CID in comparison with the control group, especially for URTI such as rhinopharyngitis.
Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

Science.gov (United States)

Rovet, Joanne

2004-01-01

Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…
Reduced white matter connectivity in the corpus callosum of children with Tourette syndrome

DEFF Research Database (Denmark)

Plessen, Kerstin J; Grüner, Renate; Lundervold, Arvid

2006-01-01

BACKGROUND: Brain imaging studies have revealed anatomical anomalies in the brains of individuals with Tourette syndrome (TS). Prefrontal regions have been found to be larger and the corpus callosum (CC) area smaller in children and young adults with TS compared with healthy control subjects......, and these anatomical features have been understood to reflect neural plasticity that helps to attenuate the severity of tics. METHOD: CC white matter connectivity, as measured by the Fractional Anisotropy (FA) index from diffusion tensor images, was assessed in 20 clinically well-defined boys with Tourette syndrome...
Distinct Patterns of Everyday Executive Function Problems Distinguish Children With Tourette Syndrome From Children With ADHD or Autism Spectrum Disorders.

Science.gov (United States)

Hovik, Kjell Tore; Egeland, Jens; Isquith, Peter K; Gioia, Gerard; Skogli, Erik Winther; Andersen, Per Normann; Øie, Merete

2017-08-01

The aim is to investigate the everyday executive function (EF) in children with Tourette syndrome (TS), Inattentive or Combined presentations of ADHD (ADHD-I/ADHD-C), autism spectrum disorders (ASD), and typically developing children (TDC). Nineteen TS, 33 ADHD-C, 43 ADHD-I, 34 ASD, and 50 TDC participated (8-17 years). Parents completed the Behavior Rating Inventory of Executive Function (BRIEF). TS, ADHD-C, ADHD-I, or ASD were rated with significantly more regulation problems on all scales compared with TDC. Considerable overlap of symptoms between clinical groups made differentiation difficult on individual scales. Scale configurations showed children with TS to have more problems with emotional control (EC) than cognitive flexibility in relation to children with ASD, more problems with EC than inhibitory control in relation to ADHD-C, and more problems with EC than planning/organizing in relation to ADHD-I. Paired BRIEF scales dissociated EF problems in children with TS from children with ADHD-C, ADHD-I, or ASD. Clinical relevance is discussed.
Um suplemento entre dois mundos: Causas e consequências da transição papel/digital do DN Jovem

OpenAIRE

Freitas, Helena de Sousa

2012-01-01

The DN Jovem, a supplement that the Portuguese newspaper Diário de Notícias (DN) began publishing in May 1983, quickly became a showcase for new prose writers, poets, photographers and illustrators. In June 1996, when access to the Internet didn’t even reach one percent of Portuguese homes, its contents migrated from print to online. The transition, determined by the Administration of DN within a newspaper’s restructuring, announced the death of a supplement that was, according to Portuguese ...
Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

Science.gov (United States)

Bouchireb, Karim; Boyer, Olivia; Mansour-Hendili, Lamisse; Garnier, Arnaud; Heidet, Laurence; Niaudet, Patrick; Salomon, Remi; Poussou, Rosa Vargas

2014-08-11

Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria. A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations. Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes.
Control Networks in Paediatric Tourette Syndrome Show Immature and Anomalous Patterns of Functional Connectivity

Science.gov (United States)

Church, Jessica A.; Fair, Damien A.; Dosenbach, Nico U. F.; Cohen, Alexander L.; Miezin, Francis M.; Petersen, Steven E.; Schlaggar, Bradley L.

2009-01-01

Tourette syndrome (TS) is a developmental disorder characterized by unwanted, repetitive behaviours that manifest as stereotyped movements and vocalizations called "tics". Operating under the hypothesis that the brain's control systems may be impaired in TS, we measured resting-state functional connectivity MRI (rs-fcMRI) between 39 previously…

Neuropsychological Functioning in Children with Tourette Syndrome with and without Attention-Deficit/Hyperactivity Disorder

Science.gov (United States)

Sukhodolsky, Denis G.; Landeros-Weisenberger, Angeli; Scahill, Lawrence; Leckman, James F.; Schultz, Robert T.

2010-01-01

Objective: Neuropsychological functioning in children with Tourette syndrome (TS) has been characterized by subtle deficits in response inhibition, visual-motor integration, and fine-motor coordination. The association of these deficits with the tics of the TS versus co-occurring attention-deficit/hyperactivity disorder (ADHD) has not been well…
The Ability to Orient Attention in Gilles de la Tourette Syndrome

Directory of Open Access Journals (Sweden)

Debra Howells

1999-01-01

Full Text Available Gilles de la Tourette syndrome is characterised by tics, although patients also commonly present with attentional problems. This experiment aimed to ascertain whether TS patients have problems in orienting attention, via the use of a vibrotactile choice reaction time task. Participants were required to push a button in response to a faint vibration delivered to the index finger. Prior to each stimulus vibration, a pre-cue (valid, neutral or invalid was administered to the finger. The performance benefits and costs participants gained from valid and invalid precues were calculated. Contrary to our prediction TS patients did not show significantly different costs or benefits. Furthermore, both patients and controls showed an equal and increased benefit in the crossed arm posture, compared to the uncrossed. These results suggest TS patients do not generally have problems in orienting attention. In addition, in the tactile modality, both patients and controls may benefit from directed attention when difficulty levels are maximal.
Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome

NARCIS (Netherlands)

Hirschtritt, M. E.; Darrow, S. M.; Illmann, C.; Osiecki, L.; Grados, M.; Sandor, P.; Dion, Y.; King, R. A.; Pauls, D.; Budman, C. L.; Cath, D. C.; Greenberg, E.; Lyon, G. J.; Yu, D.; McGrath, L. M.; McMahon, W. M.; Lee, P. C.; Delucchi, K. L.; Scharf, J. M.; Mathews, C. A.

Background. The unique phenotypic and genetic aspects of obsessive-compulsive (OCD) and attention-deficit/hyperactivity disorder (ADHD) among individuals with Tourette syndrome (TS) are not well characterized. Here, we examine symptom patterns and heritability of OCD and ADHD in TS families. Method.
Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

NARCIS (Netherlands)

K. Freriks (Kim); T.C.J. Sas (Theo); T. Traas (Theo); R.T. Netea-Maier (Romana ); M. den Heijer (Martin); A.R.M.M. Hermus (Ad); J.M. Wit (Jan); J.A.E.M. Van Alfen-van Der Velden (Janiëlle A. E.); B.J. Otten (Barto); S.M.P.F. de Muinck Keizer-Schrama (Sabine); M. Gotthardt (Martin); P.H. Dejonckere (Philippe); G.R.J. Zandwijken (Gladys); L.A. Menke (Leonie); H.J.L.M. Timmers

2013-01-01

textabstractObjective: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly
A Comprehensive Review of Tourette Syndrome and Complementary Alternative Medicine.

Science.gov (United States)

Kumar, Ashutosh; Duda, L; Mainali, G; Asghar, S; Byler, D

2018-01-01

Tourette syndrome (TS) is a neuropsychiatric condition defined by both motor and phonic tics over a period of at least 1 year with the onset before 18 years of age. The purpose of this article is to review the use of complementary alternative medicine (CAM) in children and adults with Tourette syndrome with emphasis on recent research. Most patients do not tell their physician about the use of CAM unless if specifically asked. Of the studies reviewed, description of the treatment and the frequency of use were most often reported. Few studies examine the role or effectiveness of CAM in the treatment of TS specifically. Practitioners should be aware of current research regarding various CAM modalities used for TS patients, including efficacy, potential adverse effects, and interactions with medications. Robust data about the use of CAM, efficacy, and potential side effects is lacking and requires further research to clarify optimal use.
A case of piriformis syndrome presenting as radiculopathy

Directory of Open Access Journals (Sweden)

Rammurthy Kulkarni

2015-01-01

Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.
European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: deep brain stimulation.

Science.gov (United States)

Müller-Vahl, Kirsten R; Cath, Danielle C; Cavanna, Andrea E; Dehning, Sandra; Porta, Mauro; Robertson, Mary M; Visser-Vandewalle, Veerle

2011-04-01

Ten years ago deep brain stimulation (DBS) has been introduced as an alternative and promising treatment option for patients suffering from severe Tourette syndrome (TS). It seemed timely to develop a European guideline on DBS by a working group of the European Society for the Study of Tourette Syndrome (ESSTS). For a narrative review a systematic literature search was conducted and expert opinions of the guidelines group contributed also to the suggestions. Of 63 patients reported so far in the literature 59 had a beneficial outcome following DBS with moderate to marked tic improvement. However, randomized controlled studies including a larger number of patients are still lacking. Although persistent serious adverse effects (AEs) have hardly been reported, surgery-related (e.g., bleeding, infection) as well as stimulation-related AEs (e.g., sedation, anxiety, altered mood, changes in sexual function) may occur. At present time, DBS in TS is still in its infancy. Due to both different legality and practical facilities in different European countries these guidelines, therefore, have to be understood as recommendations of experts. However, among the ESSTS working group on DBS in TS there is general agreement that, at present time, DBS should only be used in adult, treatment resistant, and severely affected patients. It is highly recommended to perform DBS in the context of controlled trials.
Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

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Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

2014-01-01

Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.
Disproportional geometry of the proximal femur in patients with Turner syndrome - a cross-sectional study

DEFF Research Database (Denmark)

Nissen, N.; Gravholt, Claus Højbjerg; Abrahamsen, Bo

2007-01-01

OBJECTIVE: Patients with Turner syndrome (TS) have altered growth and increased risk of osteoporosis due to oestrogen deficiency and possibly a host of other factors. Thus, TS patients have a 4.9-fold increased risk of femoral neck fractures. Most patients are treated with oestrogen during puberty...
The effect of oxandrolone on voice frequency in growth hormone-treated girls with Turner syndrome

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Koningsbrugge, S.H. van; Ridder, M.A. de; Zandwijken, G.R.; Boersma, B.; Dejonckere, P.H.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

2011-01-01

OBJECTIVES/HYPOTHESIS: Oxandrolone (Ox) increases height gain but may also cause voice deepening in growth hormone (GH)-treated girls with Turner syndrome (TS). We assessed the effect of Ox on objective and subjective speaking voice frequency in GH-treated girls with TS. STUDY DESIGN: A multicenter,
Cell cycle phase dependent emergence of thymidylate synthase studied by monoclonal antibody (M-TS-4).

Science.gov (United States)

Shibui, S; Hoshino, T; Iwasaki, K; Nomura, K; Jastreboff, M M

1989-05-01

A method of identifying thymidylate synthase (TS) at the cellular level was developed using anti-TS monoclonal antibody (M-TS-4), a monoclonal antibody created against purified TS from a HeLa cell line. In HeLa cells and four human glioma cell lines (U-251, U-87, 343-MGA, and SF-188), TS was identified primarily in the cytoplasm. Autoradiographic and flow cytometric studies showed that TS appeared mainly in the G1 phase and subsided early in the S phase; thus, the G1 phase can be divided into TS-positive and -negative fractions. Nuclear TS was not demonstrated unequivocally with M-TS-4, and the relationship between nuclear TS and DNA synthesis could not be determined. Although the percentage of TS-positive cells was larger than the S-phase fraction measured by autoradiography after a pulse of tritiated thymidine or by the immunoperoxidase method using BUdR, the ratios were within a similar range (1.2-1.4) in all cell lines studied. Therefore, the S-phase fraction can be estimated indirectly from the percentage of TS-positive cells measured by M-TS-4. Because the emergence of TS detected by our method is cell cycle dependent, M-TS-4 may be useful for biochemical studies of TS and for cytokinetic analysis.
Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome

NARCIS (Netherlands)

Y.K. van Pareren (Yvonne); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); T.C.J. Sas (Theo); S.L.S. Drop (Stenvert)

2002-01-01

textabstractGH treatment increases insulin levels in girls with Turner syndrome (TS), who are already predisposed to develop diabetes mellitus and other risk factors for developing cardiovascular disease. Therefore, in the present study, we investigated carbohydrate metabolism and
Effect of a fermented milk containing Bifidobacterium animalis DN-173 010 on the health-related quality of life and symptoms in irritable bowel syndrome in adults in primary care: a multicentre, randomized, double-blind, controlled trial.

Science.gov (United States)

Guyonnet, D; Chassany, O; Ducrotte, P; Picard, C; Mouret, M; Mercier, C-H; Matuchansky, C

2007-08-01

Health-related quality of life (HRQoL) has been rarely evaluated as a primary endpoint in the assessment of the effect of probiotics on the irritable bowel syndrome (IBS). To study the effects of fermented milk containing Bifidobacterium animalis DN-173 010 and yoghurt strains on the IBS in a multicentre, double-blind, controlled trial. A total of 274 primary care adults with constipation-predominant IBS (Rome II) were randomized to consume for 6 weeks either the test fermented milk or a heat-treated yoghurt (control). HRQoL and digestive symptoms were assessed after 3 and 6 weeks on an intention-to-treat population of 267 subjects. The HRQoL discomfort score, the primary endpoint, improved (P food on discomfort HRQoL score and bloating in constipation-predominant IBS, and on stool frequency in subjects with <3 stools/week.
Turner Syndrome and Its Variants

Directory of Open Access Journals (Sweden)

Semra Gürsoy

2017-12-01

Full Text Available Turner syndrome (TS is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.
Turner syndrome--issues to consider for transition to adulthood.

Science.gov (United States)

Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Ahmed, S Faisal; Mason, Avril

2015-03-01

Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
One patient with Sjogren’s syndrome presenting schizophrenia-like symptoms

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Lin CE

2016-03-01

Full Text Available Ching-En Lin1,2 1Department of Psychiatry, Taipei Tzu-Chi Hospital, Buddhist Medical Foundation, Taiwan, Republic of China; 2School of Medicine, Tzu-Chi University, Hualien, Taiwan, Republic of China Abstract: Comorbid depression in patients with Sjogren’s syndrome has been reported frequently, while comorbid psychosis in subjects with Sjogren’s syndrome has rarely been reported. Here we report a patient with Sjogren’s syndrome who presented with schizophrenia-like symptoms such as persecutory delusions and auditory hallucinations in contrast to her previous psychiatric presentations, which only included depression and anxiety. Keywords: mental illness, psychosis, Sjogren’s syndrome, schizophrenia
Presenting A Case with Tubulointerstitial Nephritis and Uveitis (TINU- Syndrome

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E Fotouhi Ardakani

2008-10-01

Full Text Available Concurrence of interstitial nephritis and uveitis named tubulointestitioal nephritis and uveitis syndrome (TINU are unusual and uncommon presentations of interstitial nephritis. This syndrome is considered after ruling out other differential diagnoses. A-38-year old man presented with acute renal failure and uveitis. The histologic findings of renal biopsy showed acute tubulointestitioal nephritis. The patient had no clinical and paraclinical manifestations of other etiologies of interstitial nephritis and uveitis such as Wegener's granulomatosis , Sjogren's syndrome or sarcoidosis. The diagnosis of TINU-Syndrome was therefore considered. The patient was treated by oral and ophthalmic prednisolone and had a good response to treatment.
Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Sas, T.C.J.; Traas, M.A.F.; Netea-Maier, R.T.; Heijer, M. den; Hermus, A.R.M.M.; Wit, J.M.; Alfen-van der Velden, J. van; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Gotthardt, M.; Dejonckere, P.H.; Zandwijken, G.R.; Menke, L.A.; Timmers, H.J.L.M.

2013-01-01

OBJECTIVE: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly increased adult
Modulation of gut microbiota and increase in fecal water content in mice induced by administration of Lactobacillus kefiranofaciens DN1.

Science.gov (United States)

Jeong, Dana; Kim, Dong-Hyeon; Kang, Il-Byeong; Kim, Hyunsook; Song, Kwang-Young; Kim, Hong-Seok; Seo, Kun-Ho

2017-02-22

Lactobacillus kefiranofaciens is the key probiotic bacterium in kefir. In this study, we investigated the effects of oral consumption of L. kefiranofaciens on the fecal quality and intestinal microbiota of mice. Four-week-old Balb/c mice were divided into two groups (n = 8 each) and administered 0.2 mL of saline (control group) or saline containing 2 × 10 8 cfu L. kefiranofaciens DN1 (LKF_DN1 group) for two weeks. At the end of the experiment, their fecal samples were collected and the fecal quality and microbiota were assessed. The LKF_DN1 group exhibited higher total fecal weight and fecal weight per stool sample than the control group (p kefiranofaciens DN1 administration could alleviate constipation and improve gut microbiota.
Oculomotor executive function abnormalities with increased tic severity in Tourette syndrome.

Science.gov (United States)

Jeter, Cameron B; Patel, Saumil S; Morris, Jeffrey S; Chuang, Alice Z; Butler, Ian J; Sereno, Anne B

2015-02-01

Reports conflict as to whether Tourette syndrome (TS) confers deficits in executive function. This study's aim was to evaluate executive function in youths with TS using oculomotor tasks while controlling for confounds of tic severity, age, medication, and severity of comorbid disorders. Four saccade tasks requiring the executive functions of response generation, response inhibition, and working memory (prosaccade, antisaccade, 0-back, and 1-back) were administered. Twenty youths with TS and low tic severity (TS-low), nineteen with TS and moderate tic severity (TS-moderate), and 29 typically developing control subjects (Controls) completed the oculomotor tasks. There were small differences across groups in the prosaccade task. Controlling for any small sensorimotor differences, TS-moderate subjects had significantly higher error rates than Controls and TS-low subjects in the 0-back and 1-back tasks. In the 1-back task, these patients also took longer to respond than Controls or TS-low subjects. In a highly controlled design, the findings demonstrate for the first time that increased tic severity in TS is associated with impaired response inhibition and impaired working memory and that these executive function deficits cannot be accounted for by differences in age, medication or comorbid symptom severity. © 2014 Association for Child and Adolescent Mental Health.

Terson syndrome in aneurysmal subarachnoid hemorrhage-its relation to intracranial pressure, admission factors, and clinical outcome.

Science.gov (United States)

Joswig, Holger; Epprecht, Lorenz; Valmaggia, Christophe; Leschka, Sebastian; Hildebrandt, Gerhard; Fournier, Jean-Yves; Stienen, Martin Nikolaus

2016-06-01

A large number of reports have not been able to clarify the pathophysiology of Terson syndrome (TS) in aneurysmal subarachnoid hemorrhage (aSAH). Prospective single-center study on aSAH patients. Fundoscopic and radiological signs of TS were assessed. The opening intracranial pressure (ICP) in patients who required a ventriculostomy was recorded with a manometer. Six out of 36 included patients had TS (16.7 %), which was associated with unfavorable admission scores. Twenty-nine patients (80.5 %) required ventriculostomy; TS was associated with higher ICP (median, 40 vs. 15 cm cmH2O, p = .003); all patients with TS had pathological ICP values of >20 cmH2O. Patients with a ruptured aneurysm of the anterior cerebral artery complex were ten times as likely to suffer from TS (OR 10.0, 95 % CI 1.03-97.50). Detection of TS on CT had a sensitivity of 50 %, a specificity of 98.4 %, a positive predictive value of 83.3 %, and a negative predictive value of 92.4 %. Mortality was 45 times as high in patients with TS (OR 45.0, 95 % CI 3.86-524.7) and neurologic morbidity up until 3 months post-aSAH was significantly higher in patients with TS (mRS 4-6; 100 vs. 17 %; p = .001). Our findings demonstrate an association between raised ICP and the incidence of TS. TS should be ruled out in aSAH patients presenting comatose or with raised ICP to ensure upfront ophthalmological follow-up. In alert patients without visual complaints and a TS-negative CT scan, the likelihood for the presence of TS is very low.
Aortic dimensions in girls and young women with turner syndrome: a magnetic resonance imaging study

DEFF Research Database (Denmark)

Cleemann, Line; Mortensen, Kristian H; Holm, Kirsten

2010-01-01

This study aimed to determine the dimensions of the thoracic aorta and the predictors of aortic dimensions in girls and young women with Turner syndrome (TS). A cross-sectional study was performed at a secondary care center. The study compared 41 TS patients with 50 healthy age-matched control...
European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: deep brain stimulation

DEFF Research Database (Denmark)

Müller-Vahl, Kirsten R; Cath, Danielle C; Cavanna, Andrea E

2011-01-01

Ten years ago deep brain stimulation (DBS) has been introduced as an alternative and promising treatment option for patients suffering from severe Tourette syndrome (TS). It seemed timely to develop a European guideline on DBS by a working group of the European Society for the Study of Tourette......, randomized controlled studies including a larger number of patients are still lacking. Although persistent serious adverse effects (AEs) have hardly been reported, surgery-related (e.g., bleeding, infection) as well as stimulation-related AEs (e.g., sedation, anxiety, altered mood, changes in sexual function......) may occur. At present time, DBS in TS is still in its infancy. Due to both different legality and practical facilities in different European countries these guidelines, therefore, have to be understood as recommendations of experts. However, among the ESSTS working group on DBS in TS there is general...
Normal tempo of bone formation in Turner syndrome despite signs of accelerated bone resorption

DEFF Research Database (Denmark)

Cleemann, Line Hartvig; Holm, Kirsten Bagge; Kobbernagel, Hanne

2011-01-01

Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...
Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption

DEFF Research Database (Denmark)

Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

2011-01-01

Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...
Prevalence of Diagnosed Tourette Syndrome in Persons Aged 6-17 Years--United States, 2007

Science.gov (United States)

Centers for Disease Control and Prevention, 2009

2009-01-01

Tourette syndrome (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple motor tics and at least one vocal tic. Tics are involuntary, repetitive, stereotypic movements or vocalizations that are usually sudden and rapid and often can be suppressed for short periods. The prevalence of TS is uncertain; the broad…
"Dude, you don't have Tourette's:" Tourette's syndrome, beyond the tics.

Science.gov (United States)

Schapiro, Naomi A

2002-01-01

While coprolalia is the most well-known symptom of Tourette's syndrome (TS), it affects only a minority of persons with the condition. TS is a chronic neurobiological condition consisting of vocal and motor tics. Many children with TS have associated obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD), both of which can interfere with school, peer, and family functioning more than the tics themselves. The article distinguishes TS from other tic disorders and reviews literature on epidemiology, etiology, clinical course, and diagnostic and treatment issues. The article discusses the role of primary care pediatric and advanced practice nurses in the diagnosis and management of TS and details helpful interventions in the arenas of personal, family, and educational support, as well as symptom management and indications for medications. The author also suggests areas for future nursing research.
Tourette Syndrome in Children: An Updated Review

Directory of Open Access Journals (Sweden)

Jung-Chieh Du

2010-10-01

Full Text Available Tourette syndrome (TS is a common neuropsychiatric disorder in children characterized by multiple motor and vocal tics that fluctuate in severity and lasting for at least 1 year. Boys are more commonly affected than girls. Symptoms usually begin with simple motor or vocal tics which then evolve into more complex motor and vocal tics over time. Premonitory sensory urges are common in children over the age of 8 years, and these urges help distinguish tics from symptoms of other movement disorders. Common comorbidities of TS include attention deficit hyperactivity disorder, obsessive-compulsive disorder and learning difficulties. Several genes have been assessed as candidate genes for TS; environmental factors such as stress and streptococcal infections might also contribute to its etiology. The pathophysiology of TS mainly involves dysfunction of basal ganglia-related circuits and hyperactive dopaminergic innervations. A thorough history assessment and neurological examination are important for the correct diagnosis and differentiation from other movement disorders. Treatment for TS should focus on improving the patient's social functioning, minimizing the impairment from cormobid disorders, and controlling tics, if they are severe. Commonly used medications for TS include a2-adrenergic agonists and atypical neuroleptics. Habit reversal therapy is an effective option for TS, and repetitive transcranial magnetic stimulation may be a promising approach for severe cases.
Do obsessional beliefs discriminate OCD without tic patients from OCD with tic and Tourette's syndrome patients

NARCIS (Netherlands)

Anholt, G.E.; Cath, D.C.; Emmelkamp, P.M.G.; van Oppen, P.; Smit, J.H.; van Balkom, A.J.L.M.

2006-01-01

There is considerable overlap in symptomatology between Tourette's syndrome (TS) and obsessive-compulsive disorder (OCD). Increased rates of tics are found in OCD and up to 60% obsessive-compulsive symptoms in TS. However, in OCD obsessive-compulsive symptoms are more often anxiety-related and, as a
A novel stabilization condition for T-S polynomial fuzzy system with time-delay:A sum-of-squares approach

OpenAIRE

Tsai, Shun Hung; Chen, Yu-An; Chen, Yu-Wen; Lo, Ji-Chang; Lam, Hak-Keung

2017-01-01

A novel stabilization problem for T-S polynomial fuzzy system with time-delay is investigated in this paper. Firstly, a polynomial fuzzy controller for T-S polynomial fuzzy system with time-delay is proposed. In addition, based on polynomial Lyapunov-Krasovskii function and the developed polynomial slack variable matrices, a novel stabilization condition for T-S polynomial fuzzy system with time-delay is presented in terms of sum-of-square (SOS) form. Lastly, nonlinear system with time-delay ...
Bartter syndrome presenting as poor weight gain and abdominal mass in an infant.

Science.gov (United States)

Heffernan, Annie; Steffensen, Thora S; Gilbert-Barness, Enid; Perlman, Sharon

2008-01-01

Bartter syndrome, a group of disorders that encompasses multiple genetic defects with similar clinical presentation, has been divided into six different genotypes, according to different genetic defects, and into three main clinical variants (or phenotypes). Classic laboratory findings in all variants include hypochloremia, hypokalemia, and metabolic alkalosis with excessive excretion of chloride and potassium. Classic Bartter syndrome, neonatal Bartter syndrome, and Gitelman syndrome are the three main clinical variants. Classic Bartter syndrome and neonatal Bartter syndrome have defects in genes that affect transport channels in the ascending loop of Henle, where as in Gitleman syndrome the defect occurs in the transport channels of the distal convoluted tubule. Classic Bartter syndrome and neonatal Bartter syndrome have similar presenting symptoms, potential outcomes, and treatment, but different ages at presentation. Gitelman syndrome, a more benign condition than the other clinical variants, has the classic hallmark finding of hypomagnesemia and low to normal excretion of calcium. This differentiates it from the classic and neonatal variants of the disease. With early diagnosis and proper treatment, Bartter syndrome has a good prognosis. But failure to identify it can lead to tubulointerstitial nephritis and renal failure. We present a case of a 6-month-old boy with Bartter syndrome who presented with poor weight gain and an abdominal mass.
Atypical Presentation of Sjögren-Larsson Syndrome

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D. Papathemeli

2017-01-01

Full Text Available Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.
Multi-threshold white matter structural networks fusion for accurate diagnosis of Tourette syndrome children

Science.gov (United States)

Wen, Hongwei; Liu, Yue; Wang, Shengpei; Li, Zuoyong; Zhang, Jishui; Peng, Yun; He, Huiguang

2017-03-01

Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder. To date, TS is still misdiagnosed due to its varied presentation and lacking of obvious clinical symptoms. Therefore, studies of objective imaging biomarkers are of great importance for early TS diagnosis. As tic generation has been linked to disturbed structural networks, and many efforts have been made recently to investigate brain functional or structural networks using machine learning methods, for the purpose of disease diagnosis. However, few studies were related to TS and some drawbacks still existed in them. Therefore, we propose a novel classification framework integrating a multi-threshold strategy and a network fusion scheme to address the preexisting drawbacks. Here we used diffusion MRI probabilistic tractography to construct the structural networks of 44 TS children and 48 healthy children. We ameliorated the similarity network fusion algorithm specially to fuse the multi-threshold structural networks. Graph theoretical analysis was then implemented, and nodal degree, nodal efficiency and nodal betweenness centrality were selected as features. Finally, support vector machine recursive feature extraction (SVM-RFE) algorithm was used for feature selection, and then optimal features are fed into SVM to automatically discriminate TS children from controls. We achieved a high accuracy of 89.13% evaluated by a nested cross validation, demonstrated the superior performance of our framework over other comparison methods. The involved discriminative regions for classification primarily located in the basal ganglia and frontal cortico-cortical networks, all highly related to the pathology of TS. Together, our study may provide potential neuroimaging biomarkers for early-stage TS diagnosis.
Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study

NARCIS (Netherlands)

van Engelen, Klaartje; Bartelings, Margot M.; Gittenberger-de Groot, Adriana C.; Baars, Marieke J. H.; Postma, Alex V.; Bijlsma, Emilia K.; Mulder, Barbara J. M.; Jongbloed, Monique R. M.

2014-01-01

Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a
Status epilepticus as the only presentation of the neonatal Bartter syndrome.

Science.gov (United States)

Patra, Soumya; Konar, Mithun C; Basu, Rajarshi; Khaowas, Ajoy K; Dutta, Soumyadeep; Sarkar, Debanjali

2012-03-01

Bartter syndrome is a rare hereditary (autosomal recessive) salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.
Burning mouth syndrome: Present perspective

OpenAIRE

Ramesh Parajuli

2015-01-01

Introduction: Burning mouth syndrome is characterized by chronic oral pain or burning sensation affecting the oral mucosa in the absence of obvious visible mucosal lesions. Patient presenting with the burning mouth sensation or pain is frequently encountered in clinical practice which poses a challenge to the treating clinician. Its exact etiology remains unknown which probably has multifactorial origin. It often affects middle or old age women and it may be accompanied by xerostomia and alte...
Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The
Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The
Temporal Course of the Tourette Syndrome Clinical Triad

Directory of Open Access Journals (Sweden)

David R. Shprecher

2014-09-01

Full Text Available Background: Tourette syndrome (TS is a disorder characterized by childhood onset of motor and phonic tics, often with improvement of tic symptoms by young adult years. The temporal course of tics and commonly comorbid behavioral symptoms is still not well characterized.Methods: In order to clarify the time course of tics and comorbid attention deficit hyperactivity disorder (ADHD or obsessive compulsive disorder (OCD in TS, we administered a brief survey regarding the course of symptoms at a single point in time to 53 TS patients aged 13–31 years.Results: Mean age (±SD at symptom onset was 7.9 (±3.6 years for tics, 7.9 (±3.5 for ADHD, and 9.2 (±5.0 for OCD. Age at peak symptom severity was 12.3 (±4.6 years for tics, 10.8 (±3.8 for ADHD, and 12.6 (±5.5 for OCD. Tics, ADHD, and OCD were reported to be no longer present in 32.0%, 22.8%, and 21.0% of subjects, respectively. Decline in symptom severity began at age 14.7 (±3.7 years for tics, 13.9 (±2.9 for ADHD, and 15.1 (±5.0 for OCD. Remission of symptoms occurred at age 17.4 (±3.8 years for tics, 17.4 (±1.3 for ADHD, and 15.6 (±2.3 for OCD. Discussion: Our data confirm and expand previously reported TS spectrum symptom milestones and may guide design of future research aimed at improving the course of TS.
Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

NARCIS (Netherlands)

Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

2014-01-01

OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean

EEC syndrome sans clefting: Variable clinical presentations in a family

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Thakkar Sejal

2007-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.
Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities

DEFF Research Database (Denmark)

Melchior, Linea; Bertelsen, Birgitte; Debes, Nanette Mol

2013-01-01

Tourette syndrome (TS) is a childhood onset neurodevelopmental disorder. Although it is widely accepted that genetic factors play a significant role in TS pathogenesis the etiology of this disorder is largely unknown. Identification of rare copy number variations (CNVs) as susceptibility factors...... in several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism and schizophrenia, suggests involvement of these rare structural changes also in TS etiology. In a male patient with TS, ADHD, and OCD (obsessive compulsive disorder) we identified two microduplications (at...
Tableau Formulas for One-Row Macdonald Polynomials of Types C_n and D_n

Science.gov (United States)

Feigin, Boris; Hoshino, Ayumu; Noumi, Masatoshi; Shibahara, Jun; Shiraishi, Jun'ichi

2015-12-01

We present explicit formulas for the Macdonald polynomials of types C_n and D_n in the one-row case. In view of the combinatorial structure, we call them ''tableau formulas''. For the construction of the tableau formulas, we apply some transformation formulas for the basic hypergeometric series involving very well-poised balanced {}_{12}W_{11} series. We remark that the correlation functions of the deformed W algebra generators automatically give rise to the tableau formulas when we principally specialize the coordinate variables.
Status epilepticus as the only presentation of the neonatal Bartter syndrome

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Soumya Patra

2012-01-01

Full Text Available Bartter syndrome is a rare hereditary (autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.
Simultaneous and multi-criteria optimization of TS requirements and maintenance at NPPs

International Nuclear Information System (INIS)

Martorell, S.; Sanchez, A.; Carlos, S.; Serradell, V.

2002-01-01

proved their capability to solve these kinds of problems, although GAs are essentially unconstrained optimization techniques that require adaptation for the intended constrained optimization, where TS and M-related parameters act as the decision variables. This paper encompasses, in , the problem formulation where the objective function is derived and constraints that apply in the simultaneous and multi-criteria optimization of TS and M activities based on risk and cost functions at system level. Fundamentals of a steady-state GA (SSGA) as an optimization method is given in , which satisfies the above requirements, paying special attention to its use in constrained optimization problems. A simple case of application is provided in , focussing on TS and M-related parameters optimization for a stand-by safety-related system, which demonstrates how the SSGA-based optimization approach works at the system level, providing practical and complete alternatives beyond only mathematical solutions to a particular parameter. Finally, presents our conclusions
H-mode transition physics close to DN on MAST and its applications to other tokamaks

International Nuclear Information System (INIS)

Meyer, H.

2004-01-01

Full text: ELMy H-mode is the base-line operating scenario for the next step fusion device ITER. To improve active and passive pedestal control a deeper understanding of H- mode physics is desirable. MAST contributes towards this understanding with good edge diagnostics, and by accessing extreme parameter regimes. The first inter-machine comparisons with respect to the influence of the magnetic topology on the power threshold with ASDEX-Upgrade and NSTX reveal a reduction of the power threshold in true double null (C-DN) configuration opening new operation regimes in both devices. The 30% reduction in threshold power close to C-DN observed on ASDEX-Upgrade, though significant, is less than the factor of two or more observed in both large spherical tokamaks, MAST and NSTX. This points towards the importance of field line curvature for this effect. The power thresholds measured in C-DN on MAST and NSTX are very similar. Despite this strong effect on the power threshold, changes in most edge parameters in L-mode due to the different magnetic configurations are small. However, significant changes are seen in the toroidal impurity flow velocity, related to the radial electric field, and in the scrape-off-layer temperature decay length at the high field side. The statistical comparison of MAST data with various H-mode theories suggests that different instabilities need to be stabilised at different spatial positions in the region where the pedestal forms to access H-mode. Pedestal temperatures observed on MAST are two to five times lower than in MAST equivalent discharges at ASDEX-Upgrade. However, the pedestal densities are similar. The differences in L-mode are less significant. The usual DN operating regime with co current NBI in MAST has been extended to include single null (SN) configurations, to provide more direct comparisons with conventional tokamaks. The plasma edge in SN on MAST is more stable to ELMs and the typical type-III ELMs, often observed in C-DN, are
Nelson′s syndrome presenting as bilateral oculomotor palsy

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Abhay Gundgurthi

2013-01-01

Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.
Silent Aortic Dissection Presenting as Transient Locked-In Syndrome

Science.gov (United States)

Nadour, Wadih; Goldwasser, Brian; Biederman, Robert W.; Taffe, Kevin

2008-01-01

Acute aortic dissection is a medical emergency. Without prompt recognition and treatment, the mortality rate is high. An atypical presentation makes timely diagnosis difficult, especially if the patient is experiencing no characteristic pain. Many patients with aortic dissection are reported to have presented with various neurologic manifestations, but none with only a presentation of transient locked-in syndrome. Herein, we report a case of completely painless aortic dissection in a woman who presented with a transient episode of anarthria, quadriplegia, and preserved consciousness. On physical examination, she had a 40-point difference in blood pressure between her left and right arms, and a loud diastolic murmur. The diagnosis of acute aortic dissection was reached via a combination of radiography, computed tomography, echocardiography, and a high index of clinical suspicion. The patient underwent emergency surgery and ultimately experienced a successful outcome. To our knowledge, this is the 1st report of aortic dissection that presented solely as locked-in syndrome. We suggest that silent aortic dissection be added to the differential diagnosis for transient locked-in syndrome. PMID:18941610
Tourette Syndrome: A Mini-Review

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Michal Novotny

2018-03-01

Full Text Available The purpose of this mini-review is to provide the latest information on epidemiology, pathophysiology, diagnosis, and treatment of Tourette syndrome (TS. The authors conducted a literature search of available sources describing the issue of tic disorders with special focus on TS and made a comparison and evaluation of relevant findings. The results of this mini-review indicate that TS is a complex disorder, which has a significant impact on the quality of life of both the patients and his/her family. Therefore, early and proper diagnosis and treatment are necessary in order to reduce or even eliminate both symptoms and social burden of the patient. This requires a multidisciplinary management approach in order to meet the patients’ special needs. Future research should focus on neuroimaging, new neurotransmitter targets, in functional neurosurgery, as well as the effect of non-pharmacological psychotherapies for these people.
European clinical guidelines for Tourette Syndrome and other tic disorders. Part I : assessment

NARCIS (Netherlands)

Cath, Danielle C.; Hedderly, Tammy; Ludolph, Andrea G.; Stern, Jeremy S.; Murphy, Tara; Hartmann, Andreas; Czernecki, Virginie; Robertson, Mary May; Martino, Davide; Munchau, A.; Rizzo, R.

A working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines of Tourette Syndrome (TS). The available literature including national guidelines was thoroughly screened and extensively discussed in the expert group of ESSTS
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

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Shanshan Xu

2017-10-01

Full Text Available Abstract Background Noonan syndrome (NS and Noonan syndrome with multiple lentigines (NSML are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES. Methods TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. Results TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS. Conclusions TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.
Prenatal risk factors for Tourette Syndrome: a systematic review

Science.gov (United States)

2014-01-01

Background Tourette Syndrome (TS) appears to be an inherited disorder, although genetic abnormalities have been identified in less than 1% of patients, and the mode of inheritance is uncertain. Many studies have investigated environmental factors that might contribute to the onset and severity of tics and associated comorbidities such as obsessive compulsive disorder (OCD) and attention deficit hyperactive disorder (ADHD). A systematic review and qualitative analysis were performed to provide a broad view of the association between pre- and perinatal factors and TS. Methods The Medline, Embase and PsycINFO databases were searched using terms specific to Tourette’s syndrome and keywords such as “pregnancy”, “prenatal”, “perinatal”, “birth” and “neonatal”. Studies were limited to studies on human subjects published in English or French through October 2012. Results 22 studies were included. Studies were of limited methodological quality, with most samples derived from specialty clinics, and most exposures ascertained retrospectively. The majority of the results for demographic factors of parents, including age, education, socioeconomic status, and marital status, revealed no significant association with the onset of TS, or the presence of comorbidity. Many factors were reported to be significantly associated with the onset of TS, the presence of comorbidity and symptom severity, but the most consistently reported factors were maternal smoking and low birth weight. Conclusions There are few studies evaluating the relationship between pre and perinatal events and TS, and existing studies have major limitations, including the use of clinic rather than epidemiologically derived samples, retrospective data collection on pre and perinatal events and multiple hypothesis testing without appropriate statistical correction. The mechanism by which prenatal and perinatal adversities could lead to TS onset or symptom severity is unknown, but may be related
Prenatal risk factors for Tourette Syndrome: a systematic review.

Science.gov (United States)

Chao, Ting-Kuang; Hu, Jing; Pringsheim, Tamara

2014-01-30

Tourette Syndrome (TS) appears to be an inherited disorder, although genetic abnormalities have been identified in less than 1% of patients, and the mode of inheritance is uncertain. Many studies have investigated environmental factors that might contribute to the onset and severity of tics and associated comorbidities such as obsessive compulsive disorder (OCD) and attention deficit hyperactive disorder (ADHD). A systematic review and qualitative analysis were performed to provide a broad view of the association between pre- and perinatal factors and TS. The Medline, Embase and PsycINFO databases were searched using terms specific to Tourette's syndrome and keywords such as "pregnancy", "prenatal", "perinatal", "birth" and "neonatal". Studies were limited to studies on human subjects published in English or French through October 2012. 22 studies were included. Studies were of limited methodological quality, with most samples derived from specialty clinics, and most exposures ascertained retrospectively. The majority of the results for demographic factors of parents, including age, education, socioeconomic status, and marital status, revealed no significant association with the onset of TS, or the presence of comorbidity. Many factors were reported to be significantly associated with the onset of TS, the presence of comorbidity and symptom severity, but the most consistently reported factors were maternal smoking and low birth weight. There are few studies evaluating the relationship between pre and perinatal events and TS, and existing studies have major limitations, including the use of clinic rather than epidemiologically derived samples, retrospective data collection on pre and perinatal events and multiple hypothesis testing without appropriate statistical correction. The mechanism by which prenatal and perinatal adversities could lead to TS onset or symptom severity is unknown, but may be related to changes in the dopaminergic system as a result of early
Fine-Motor Skill Deficits in Childhood Predict Adulthood Tic Severity and Global Psychosocial Functioning in Tourette's Syndrome

Science.gov (United States)

Bloch, Michael H.; Sukhodolsky, Denis G.; Leckman, James F.; Schultz, Robert T.

2006-01-01

Background: Most children with Tourette's syndrome (TS) experience a significant decline in tic symptoms during adolescence. Currently no clinical measures have been identified that can predict whose tic symptoms will persist into adulthood. Patients with TS have deficits on neuropsychological tests involving fine-motor coordination and…
SAS4A and FPIN2X validation for slow ramp TOP accidents: experiments TS-1 and TS-2

International Nuclear Information System (INIS)

Hill, D.J.

1986-01-01

The purpose of this paper is to present further results in the series of experimental analyses being performed using SAS4A and FPIN2X in order to provide a systematic validation of these codes. The two experiments discussed here, TS-1 and TS-2, were performed by Westinghouse Hanford/Hanford Engineering Development Laboratory (WHC/HEDL) in the Transient Reactor Test (TREAT) Facility. They were slow ramp transient overpowers (TOPs) of ∼ 5 cent/s equivalent Fast Flux Test Facility (FFTF) ramp rate, single-pin experiments in flowing sodium loops. The good agreement found here adds significantly to the experimental data base that provides the foundation for SAS4A and FPIN2X validation. It also shows that prefailure internal fuel motion is a phenomenon that has to be correctly accounted for, not only as a potential inherent safety mechanism, but also before any accurate prediction of fuel failure and subsequent fuel motion and the associated reactivity effects can be made. This is also true for metal-fueled pins. This capability is provided by PINACLE, which is being incorporated into SAS4A
Imaging evidence for anatomical disturbances and neuroplastic compensation in persons with Tourette syndrome

DEFF Research Database (Denmark)

Plessen, Kerstin J; Bansal, Ravi; Peterson, Bradley S

2009-01-01

BACKGROUND: Tourette syndrome (TS) is a disorder of chronic motor and vocal tics that begins in childhood. METHODS: A systematic Medline search was conducted to identify existing anatomical imaging studies in persons with TS. RESULTS: Thirty studies were identified, and their methods and findings......, and methods of image analysis, the preponderance of evidence suggests that disturbances in the development of the motor portions of cortical-subcortical circuits likely predispose to the development TS and that neuroplastic changes in control systems of the brain help to modulate the severity of symptom...
A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

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Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

2017-01-01

Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.
Tourette syndrome and excitatory substances: is there a connection?

Science.gov (United States)

Zou, Li-Ping; Wang, Ying; Zhang, Li-Ping; Zhao, Jian-Bo; Lu, Jin-Fang; Liu, Qun; Wang, Hang-Yan

2011-05-01

The objective of this study is to investigate the relationship between excitatory substances by testing the urine in children with Tourette syndrome (TS). We performed a control study involving 44 patients with TS and 44 normal children by investigating the children's daily eating habits. We used the gas chromatograph-mass spectrometer and liquid chromatograph-mass spectrometer from Agilent. Substances for detection included 197 excitatory substances prohibited by the International Olympic Committee and other substances with similar chemical structures or biological functions for urine samples. Forty-four patients who did not take any drugs in the past 2 weeks enrolled in the study. The positive rate in the experiment group was three cases, while it was negative in the control group. The level of 1-testosterone increased in one extremely severe TS patient who ate large amounts of puffed food and drank an average of 350 ml of cola per day. Cathine and other substances with similar chemical constitution or similar biological effects increased in one severe TS patient who ate bags of instant noodles daily, according to the high score of the Yale Global Tic Severity Scale. An increase in ephedrine type, testosterone, and stimulants may be related to the pathogenesis of TS. Unhealthy food possibly causes TS. The relationship between excitatory substances and TS needs to be explored with the goal of providing more information on diagnosing and treating TS.
Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome

DEFF Research Database (Denmark)

Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

2012-01-01

Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry...
Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

DEFF Research Database (Denmark)

Yasmeen, Saiqa; Melchior, Linea; Bertelsen, Birgitte

2013-01-01

Tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by multiple motor and vocal tics and is often accompanied by comorbidities such as attention deficit hyperactivity disorder and obsessive-compulsive disorder. The complex etiology of TS and its co-occurrence with other...

[Epidemiological methods used in studies in the prevalence of Tourette syndrome].

Science.gov (United States)

Stefanoff, Paweł; Mazurek, Jacek

2003-01-01

Tourette syndrome (TS) prevalence was studied since the early 80-ies. Its clinical course is characterised by co-occurrence of motor and vocal tics. Results of previous epidemiological studies were surprisingly divergent: the prevalence varied from 0.5 to 115 cases per 10,000 population. The disease previously recognised as extremely rare and severe is now considered as quite common, with often moderate course. Selected methods used in studies of TS prevalence and analysis of their possible impact on study results are presented. The studies were divided into 3 groups: studies of the hospitalised population, large-scale screenings and studies involving school population, basing on characteristic and size of population, methods of selection of subjects, diagnostic and screening methods used. Studies of the hospitalised population involved patients with most severe symptoms, in different age groups, different methods of final diagnosis confirmation were used. TS prevalence varied from 0.5 up to 15 cases per 10,000 population. Procedures used in large-scale screening studies made possible the elimination of potential selection bias. Large populations were studied using transparent and repetitive confirmation of diagnoses. Their validity was additionally checked in parallel validity studies. TS prevalence was in the range 4.3 to 10 cases per 10,000 population. The highest TS prevalence was obtained in studies involving schoolchildren. Data were gathered from multiple sources: from parents, teachers and children, as well as from classroom observation. Diagnoses were made by experienced clinicians. TS prevalence obtained in school population studies was between 36.2 up to 115 per 10,000 population.
MELAS syndrome presenting as an acute surgical abdomen.

Science.gov (United States)

Dindyal, S; Mistry, K; Angamuthu, N; Smith, G; Hilton, D; Arumugam, P; Mathew, J

2014-01-01

MELAS (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) is a syndrome in which signs and symptoms of gastrointestinal disease are uncommon if not rare. We describe the case of a young woman who presented as an acute surgical emergency, diagnosed as toxic megacolon necessitating an emergency total colectomy. MELAS syndrome was suspected postoperatively owing to persistent lactic acidosis and neurological symptoms. The diagnosis was later confirmed with histological and genetic studies. This case highlights the difficulties in diagnosing MELAS because of its unpredictable presentation and clinical course. We therefore recommend a high index of suspicion in cases of an acute surgical abdomen with additional neurological features or raised lactate.
Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

Science.gov (United States)

Debadatta, Mohapatra; Mishra, Ajay K

2013-07-01

Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.
CATALYTIC PERFORMANCES OF Fe2O3/TS-1 CATALYST IN PHENOL HYDROXYLATION REACTION

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Didik Prasetyoko

2010-07-01

Full Text Available Hydroxylation reaction of phenol into diphenol, such as hydroquinone and catechol, has a great role in many industrial applications. Phenol hydroxylation reaction can be carried out using Titanium Silicalite-1 (TS-1 as catalyst and H2O2 as an oxidant. TS-1 catalyst shows high activity and selectivity for phenol hydroxylation reaction. However, its hydrophobic sites lead to slow H2O2 adsorption toward the active site of TS-1. Consequently, the reaction rate of phenol hydroxylation reaction is tends to be low. Addition of metal oxide Fe2O3 enhanced hydrophilicity of TS-1 catalyst. Liquid phase catalytic phenol hydroxylation using hydrogen peroxide as oxidant was carried out over iron (III oxide-modified TS-1 catalyst (Fe2O3/TS-1, that were prepared by impregnation method using iron (III nitrate as precursor and characterized by X-ray diffraction, infrared spectroscopy, nitrogen adsorption, pyridine adsorption, and hydrophilicity techniques. Catalysts 1Fe2O3/TS-1 showed maximum catalytic activity of hydroquinone product. In this research, the increase of hydroquinone formation rate is due to the higher hydrophilicity of Fe2O3/TS-1 catalysts compare to the parent catalyst, TS-1. Keywords: Fe2O3/TS-1, hydrophilic site, phenol hydroxylation
Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial

NARCIS (Netherlands)

T.C.J. Sas (Theo); W.J. Gerver; R. de Bruin (Rob); Th. Stijnen (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); T.J. Cole (Trevor); A. van Teunenbroek (Arne); S.L.S. Drop (Stenvert)

1999-01-01

textabstractTo assess body proportions in girls with Turner syndrome (TS) during long term GH treatment, height, sitting height (SH), hand (Hand) and foot (Foot) lengths, and biacromial (Biac) and biiliacal (Biil) diameters were measured in 68 girls with TS
TS-05: 150 lines of java with high architectural complexity

DEFF Research Database (Denmark)

Christensen, Henrik Bærbak

2005-01-01

In the short time span available in a software architecture course, it is difficult to find a software system that is both interesting from an architectural perspective and so small that it does not overwhelm the students.We present TS-05 which is a bare 150 line Java "toy-system" that never...
Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

African Journals Online (AJOL)

We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was ...
Um suplemento entre dois mundos : Causas e consequências da transição papel/digital do DN Jovem

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Helena de Sousa Freitas

2012-01-01

Full Text Available The DN Jovem, a supplement that the Portuguese newspaper Diário de Notícias (DN began publishing in May 1983, quickly became a showcase for new prose writers, poets, photographers and illustrators. In June 1996, when access to the Internet didn’t even reach one percent of Portuguese homes, its contents migrated from print to online. The transition, determined by the Administration of DN within a newspaper’s restructuring, announced the death of a supplement that was, according to Portuguese writer José Jorge Letria, “the most important spot for the revelation and affirmation of new literary values” in democratic Portugal.
Do's and Don'ts of Computer Models for Planning

Science.gov (United States)

Hammond, John S., III

1974-01-01

Concentrates on the managerial issues involved in computer planning models. Describes what computer planning models are and the process by which managers can increase the likelihood of computer planning models being successful in their organizations. (Author/DN)
Steele Richardson Olszewski syndrome

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Vijayashree S Gokhale

2013-01-01

Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.
Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette syndrome

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Yoko eNagai

2015-09-01

Full Text Available This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in Epilepsy and tics in Tourette Syndrome (TS. In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g. syncope, or in relation to Sudden Unexpected Death in Epilepsy (SUDEP. Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of epileptic seizures is largely overlooked. Emotional stimuli such as anxiety and stress are potent causes of seizures and tic activity in TS, respectively. This manuscript will describe a possible neural mechanism by which afferent autonomic projections linked to cognition and behaviour influence central nervous system thalamo-cortical regulation, which appears to be an important means for controlling both seizure and tic activity. It also summarizes the link between the integrity of the default mode network and autonomic regulation in patients with epilepsy as well as the link between impaired motor control and autonomic regulation in patients with TS. Two neurological conditions; epilepsy and TS were chosen, as seizures and tics represent parameters that can be easily measured to investigate influences of autonomic functions. The EDA biofeedback approach is anticipated
Task control signals in pediatric Tourette syndrome show evidence of immature and anomalous functional activity

Directory of Open Access Journals (Sweden)

Jessica A Church

2009-11-01

Full Text Available Tourette Syndrome (TS is a pediatric movement disorder that may affect control signaling in the brain. Previous work has proposed a dual-networks architecture of control processing involving a task-maintenance network and an adaptive control network (Dosenbach et al., 2008. A prior resting-state functional connectivity MRI (rs-fcMRI analysis in TS has revealed functional immaturity in both putative control networks, with “anomalous” correlations (i.e. correlations outside the typical developmental range limited to the adaptive control network (Church et al., 2009. The present study used functional MRI (fMRI to study brain activity related to adaptive control (by studying start-cues signals, and to task-maintenance (by studying signals sustained across a task set. Two hypotheses from the previous rs-fcMRI results were tested. First, adaptive control (i.e., start-cue activity will be altered in TS, including activity inconsistent with typical development (“anomalous”. Second, group differences found in task maintenance (i.e., sustained activity will be consistent with functional immaturity in TS. We examined regions found through a direct comparison of adolescents with and without TS, as well as regions derived from a previous investigation that showed differences between unaffected children and adults. The TS group showed decreased start-cue signal magnitude in regions where start-cue activity is unchanged over typical development, consistent with anomalous adaptive control. The TS group also had higher magnitude sustained signals in frontal cortex regions that overlapped with regions showing differences over typical development, consistent with immature task maintenance in TS. The results demonstrate task-related fMRI signal differences anticipated by the atypical functional connectivity found previously in adolescents with TS, strengthening the evidence for functional immaturity and anomalous signaling in control networks in adolescents
Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging

DEFF Research Database (Denmark)

Cleemann, Line; Holm, Kirsten; Fallentin, Eva

2011-01-01

Objective To determine uterine and ovarian size in Turner syndrome (TS) and to compare uterine and ovarian size evaluated by transabdominal ultrasound (US) and magnetic resonance imaging (MRI) in girls with TS and two groups of controls. Design A cross-sectional study. Patients Forty-one girls...
Not in Traffic Surveillance (NiTS)

Data.gov (United States)

Department of Transportation — The Not-in-Traffic Surveillance (NiTS) system is a virtual data collection system designed to provide counts and details regarding fatalities and injuries that occur...
Clinical Assessment of Tourette Syndrome and Tic Disorders

Science.gov (United States)

Cohen, Stephanie; Leckman, James F.; Bloch, Michael H.

2013-01-01

Tourette Syndrome (TS) is a neuropsychiatric disorder involving multiple motor and phonic tics. Tics, which usually begin between the ages of 6 and 8, are sudden, rapid, stereotyped, and apparently purposeless movements or sounds that involve discrete muscle groups. Individuals with TS experience a variety of different sensory phenomena, including premonitory urges prior to tics and somatic hypersensitivity due to impaired sensorimotor gating. In addition to other conditions, stress, anxiety, fatigue, or other heightened emotional states tend to exacerbate tics, while relaxation, playing sports, and focused concentration on a specific task tend to alleviate tic symptoms. Ninety percent of children with TS also have comorbid conditions, such as Attention deficit hyperactivity disorder (ADHD), Obsessive-compulsive disorder (OCD), or an impulse control disorder. These disorders often cause more problems for the child both at home and at school than tics do alone. Proper diagnosis and treatment of TS involves appropriate evaluation and recognition, not only of tics, but also of these associated conditions. PMID:23206664
Tic Exacerbation in Adults with Tourette Syndrome: A Case Series

OpenAIRE

Sara M. Schaefer; Christopher A. Chow; Elan D. Louis; Daphne Robakis

2017-01-01

Background: Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood.Methods: We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and...
T.S. Eliot i nordisk efterkrigstidsdigtning

DEFF Research Database (Denmark)

Larsen, Peter Stein

2009-01-01

andet indkredses den særlige fascinationskraft ved Eliots æstetik, som den kommer til udtryk i The Waste Land (1922), nemlig at der er tale om en uhyre sofistikeret brug af montageformen. For det tredje peges der gennem et par digtlæsninger på, hvordan Eliots montage-æstetik kan følges i nordisk poesi......Hvad er årsagen til, at T.S. Eliot måske mere end nogen anden digter har haft indflydelse på nordiske digtere i det 20. århundrede? Dette vil blive undersøgt i tre tempi i denne artikel. For det første gives der et generelt rids af, hvor man finder T.S. Eliots aftryk i nordisk litteratur. For det...
Tourette syndrome deep brain stimulation: a review and updated recommendations.

Science.gov (United States)

Schrock, Lauren E; Mink, Jonathan W; Woods, Douglas W; Porta, Mauro; Servello, Dominico; Visser-Vandewalle, Veerle; Silburn, Peter A; Foltynie, Thomas; Walker, Harrison C; Shahed-Jimenez, Joohi; Savica, Rodolfo; Klassen, Bryan T; Machado, Andre G; Foote, Kelly D; Zhang, Jian-Guo; Hu, Wei; Ackermans, Linda; Temel, Yasin; Mari, Zoltan; Changizi, Barbara K; Lozano, Andres; Auyeung, M; Kaido, Takanobu; Agid, Yves; Welter, Marie L; Khandhar, Suketu M; Mogilner, Alon Y; Pourfar, Michael H; Walter, Benjamin L; Juncos, Jorge L; Gross, Robert E; Kuhn, Jens; Leckman, James F; Neimat, Joseph A; Okun, Michael S

2015-04-01

Deep brain stimulation (DBS) may improve disabling tics in severely affected medication and behaviorally resistant Tourette syndrome (TS). Here we review all reported cases of TS DBS and provide updated recommendations for selection, assessment, and management of potential TS DBS cases based on the literature and implantation experience. Candidates should have a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM V) diagnosis of TS with severe motor and vocal tics, which despite exhaustive medical and behavioral treatment trials result in significant impairment. Deep brain stimulation should be offered to patients only by experienced DBS centers after evaluation by a multidisciplinary team. Rigorous preoperative and postoperative outcome measures of tics and associated comorbidities should be used. Tics and comorbid neuropsychiatric conditions should be optimally treated per current expert standards, and tics should be the major cause of disability. Psychogenic tics, embellishment, and malingering should be recognized and addressed. We have removed the previously suggested 25-year-old age limit, with the specification that a multidisciplinary team approach for screening is employed. A local ethics committee or institutional review board should be consulted for consideration of cases involving persons younger than 18 years of age, as well as in cases with urgent indications. Tourette syndrome patients represent a unique and complex population, and studies reveal a higher risk for post-DBS complications. Successes and failures have been reported for multiple brain targets; however, the optimal surgical approach remains unknown. Tourette syndrome DBS, though still evolving, is a promising approach for a subset of medication refractory and severely affected patients. © 2014 International Parkinson and Movement Disorder Society.
Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial

DEFF Research Database (Denmark)

Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

2017-01-01

OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone...
Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

Science.gov (United States)

Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

2011-11-01

Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

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Nicholas T. Gamboa, B.S.

2017-12-01

Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.
Reconstitution of Qbeta RNA replicase from a covalently bonded elongation factor Tu-Ts complex

DEFF Research Database (Denmark)

Brown, S; Blumenthal, T

1976-01-01

of these polypeptides, protein synthesis elongation factors EF-Tu and EF-Ts, can be covalently crosslinked with dimethyl suberimidate to form a complex which lacks the ability to catalyze the known host functions catalyzed by the individual elongation factors. Using a previously developed reconstitution system we have...... examined the effects of crosslinking the EF-Tu-Ts complex on reconstituted replicase activity. Renaturation is significantly more efficient when exogenously added native EF-Tu-Ts is crosslinked than when it is not. Crosslinked EF-Tu-Ts can be purified from a crude crosslinked postribosomal supernatant...... by its ability to replace EF-Tu and EF-Ts in the renaturation of denatured Qbeta replicase. A sample of Qbeta replicase with crosslinked EF-Tu-Ts replacing the individual elongation factors was prepared. Although it lacked EF-Tu and EF-Ts activities, it could initiate transcription of both poly...
Possible measurements of the spin one observables in elastic dN, dd collisions at the NICA deuteron beams

International Nuclear Information System (INIS)

Sharov, V I

2016-01-01

The report shows the possibilities of studying the spin one observables in the elastic dN and dd interactions at the NICA collider of the VBLHEP JINR. The use of the colliding deuteron beams would allow us to carry out the measurements of the differential cross sections I 0 (dN, dd) of the elastic scattering of unpolarized deuterons and the differential cross sections I pol (dN,dd) and the vector A y (Ed,θ) and tensor A yy (Ed,θ) and A xx (E d .θ) analyzing powers in elastic collisions of the vector and tensor polarized deuterons. The planned luminosity of the colliding polarized deuteron beams will provide sufficiently high elastic events counting rate. The use of the colliding beams of the polarized deuterons for the spin one >dN and dd observables research has a number of significant advantages in comparison with the experiments with the “fixed” target. The angular acceptance of the collider detector covers the full solid angle 4π radians while the wide ranges of the energies of the dN, dd interactions and the 4-momentum transfer squared are available. (paper)
Časopis "Módní svět" a "Lada" v kulturním kontextu

OpenAIRE

Šrolová, Kristýna

2010-01-01

The thesis discusses tbe fashion magazine Módní svět (Fashion World) and its enclosure Lada, which it implants into their cultural and historica1 context. The magazine Módní svět (Fashion World) was puhli,hed from 1875 to 1935 and thi, a1,o deline, lhe time circmnscription of tbe themes in tbe thesis. It contextua11y deals with tbe women society during tbe tum of 19th to 20th century, with women's emancipatory movement, with tbe beginning of publishing of rn.agazines for women and fashion mag...
Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

Directory of Open Access Journals (Sweden)

Anirban Sarkar

2013-01-01

Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.
Temperature-sensitive mutants of influenza A virus. XIV. Production and evaluation of influenza A/Georgia/74-ts-1[E] recombinant viruses in human adults.

Science.gov (United States)

Richman, D D; Murphy, B R; Belshe, R B; Rusten, H M; Chanock, R M; Blacklow, N R; Parrino, T A; Rose, F B; Levine, M M; Caplan, E

1977-08-01

The two temperature-sensitive (ts) lesions present in influenza A/Hong Kong/68-ts-1[E] (H3N2 68) virus were transferred via genetic reassortment to influenza A/Georgia/74 (H3N2 74) wild-type virus. A recombinant clone possessing both ts lesions and the shutoff temperature of 38 C of the Hong Kong/68 ts donor and the two surface antigens of the Georgia/74 wild-type virus was administered to 32 seronegative adult volunteers. Thirty-one volunteers were infected, of whom only five experienced mild afebrile upper respiratory tract illness. The wild-type recipient virus was a cloned population that induced illness in five of six infected volunteers. Therfore, the attenuation exhibited by the Georgia/74-ts-1[E] virus could reasonably be assumed to be due to the acquisition of the two ts-1[E] lesions by the Georgia/74 wild-type virus. The serum and nasal wash antibody responses of the ts-1[E] vaccinees were equivalent to those of the volunteers who received wild-type virus. The two ts lesions present in the Hong Kong/68-ts-1[E] virus have now been transferred three times to a wild-type virus bearing a new hemagglutinin, and in each instance the new ts recombination exhibited a similar, satisfactory level of attenuation and antigenicity for adults. It seems likely that the transfer of the ts-1[E] lesions to any new influenza virus will regularly result in attenuation of a recombinat virus possessing the new surface antigens.
A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

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Debmalya Sanyal

2013-01-01

Full Text Available Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.
[Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

Science.gov (United States)

Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

2017-02-02

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.
Enlargement of thalamic nuclei in Tourette syndrome

DEFF Research Database (Denmark)

Miller, Ann M; Bansal, Ravi; Hao, Xuejun

2010-01-01

CONTEXT: The basal ganglia and thalamus together connect in parallel closed-loop circuits with the cortex. Previous imaging studies have shown modifications of the basal ganglia and cortical targets in individuals with Tourette syndrome (TS), but less is known regarding the role of the thalamus...
Time Processing in Children with Tourette's Syndrome

Science.gov (United States)

Vicario, Carmelo Mario; Martino, Davide; Spata, Felice; Defazio, Giovanni; Giacche, Roberta; Martino, Vito; Rappo, Gaetano; Pepi, Anna Maria; Silvestri, Paola Rosaria; Cardona, Francesco

2010-01-01

Background: Tourette syndrome (TS) is characterized by dysfunctional connectivity between prefrontal cortex and sub-cortical structures, and altered meso-cortical and/or meso-striatal dopamine release. Since time processing is also regulated by fronto-striatal circuits and modulated by dopaminergic transmission, we hypothesized that time…
Current Approaches and New Developments in the Pharmacological Management of Tourette Syndrome.

Science.gov (United States)

Quezada, Julio; Coffman, Keith A

2018-01-01

Tourette syndrome (TS) is a neurodevelopmental disorder of unknown etiology characterized by spontaneous, involuntary movements and vocalizations called tics. Once thought to be rare, TS affects 0.3-1% of the population. Tics can cause physical discomfort, emotional distress, social difficulties, and can interfere with education and desired activities. The pharmacologic treatment of TS is particularly challenging, as currently the genetics, neurophysiology, and neuropathology of this disorder are still largely unknown. However, clinical experience gained from treating TS has helped us better understand its pathogenesis and, as a result, derive treatment options. The strongest data exist for the antipsychotic agents, both typical and atypical, although their use is often limited in children and adolescents due to their side-effect profiles. There are agents in a variety of other pharmacologic categories that have evidence for the treatment of TS and whose side-effect profiles are more tolerable than the antipsychotics; these include clonidine, guanfacine, baclofen, topiramate, botulinum toxin A, tetrabenazine, and deutetrabenazine. A number of new agents are being developed and tested as potential treatments for TS. These include valbenazine, delta-9-tetrahydrocannabidiol, and ecopipam. Additionally, there are agents with insufficient data for efficacy, as well as agents that have been shown to be ineffective. Those without sufficient data for efficacy include clonazepam, ningdong granule, 5-ling granule, omega-3 fatty acids, and n-acetylcysteine. The agents that have been shown to be ineffective include pramipexole and metoclopramide. We will review all of the established pharmacologic treatments, and discuss those presently in development.
Advances in Tourette syndrome: diagnoses and treatment.

Science.gov (United States)

Serajee, Fatema J; Mahbubul Huq, A H M

2015-06-01

Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory sensory urges before tic execution and desire for "just-right" perception are central features. The pathophysiology involves cortico-striato-thalamo-cortical circuits and possibly dopaminergic system. TS is considered a genetic disorder but the genetics is complex and likely involves rare mutations, common variants, and environmental and epigenetic factors. Treatment is multimodal and includes education and reassurance, behavioral interventions, pharmacologic, and rarely, surgical interventions. Copyright © 2015 Elsevier Inc. All rights reserved.
Development of a tree shrew metabolic syndrome model and use of umbilical cord mesenchymal stem cell transplantation for treatment.

Science.gov (United States)

Pan, Xing-Hua; Zhu, Lu; Yao, Xiang; Liu, Ju-Fen; Li, Zi-An; Yang, Jian-Yong; Pang, Rong-Qing; Ruan, Guang-Ping

2016-12-01

The aim of this study was to establish a tree shrew metabolic syndrome model and demonstrate the utility of MSCs in treating metabolic syndrome. We used tree shrew umbilical cord mesenchymal stem cell (TS-UC-MSC) transplantation for the treatment of metabolic syndrome to demonstrate the clinical application of these stem cells and to provide a theoretical basis and reference methods for this treatment. Tree shrew metabolic syndrome model showed significant insulin resistance, high blood sugar, lipid metabolism disorders, and hypertension, consistent with the diagnostic criteria. TS-UC-MSC transplantation at 16 weeks significantly reduced blood sugar and lipid levels, improved insulin resistance and the regulation of insulin secretion, and reduced the expression levels of the pro-inflammatory cytokines IL-1 and IL-6 (P metabolic syndrome model and showed that MSC migrate in diseased organs and can attenuate metabolic syndrome severity in a tree shrew model.
Antiphospholipid Antibody Syndrome Presenting with Hemichorea

Directory of Open Access Journals (Sweden)

Yezenash Ayalew

2012-01-01

Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.
ISO/TS 16949 system in quality aspect

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Joanna Rosak-Szyrocka

2014-12-01

Full Text Available In the automotive industry the use of modern technology and provision of the highest quality product and related services is the most important element of rivalry between global corporations and motorcycles. In a competitive struggle for the recognition of its brand in the automotive market global organizations continuously raise the requirements for quality management systems, so that the finished product meets all the standards in terms of safety, quality and satisfying the ever-growing needs of customers - present and future drivers and passengers of cars. ISO/TS 16949 quality management system is presented in the paper. A framework for customer specific requirement as well as preventing problems is shown.
Deutetrabenazine in Tics Associated with Tourette Syndrome

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Joseph Jankovic

2016-11-01

Full Text Available Background: Deutetrabenazine, an inhibitor of vesicular monoamine transporter type 2 (VMAT2 depletes presynaptic dopamine and is useful in the treatment of hyperkinetic movement disorders. This study explored the safety, tolerability, and preliminary efficacy of deutetrabenazine in adolescents with moderate-to-severe tics associated with Tourette syndrome (TS. Methods: In this open-label study of 12–18-year-old patients with TS-related tics, deutetrabenazine was titrated up to 36 mg/day over 6 weeks to adequately suppress tics without bothersome adverse effects (AEs, followed by maintenance at optimal dose for 2 weeks. An independent blinded rater assessed tic severity using the Yale Global Tic Severity Scale (YGTSS, which was the primary outcome measure. Secondary outcome measures included the TS Clinical Global Impression (TS-CGI and TS Patient Global Impression of Change (TS-PGIC. Results: Twenty-three enrolled patients received deutetrabenazine and had at least 1 post-baseline YGTSS assessment. The mean (SD [standard deviation] baseline YGTSS Total Tic Severity Score (TTS was 31.6 (7.9 and had decreased by 11.6 (8.2 points at week 8, a 37.6% reduction in tic severity (p<0.0001. The TS-CGI score improved by 1.2 (0.81 points (p<0.0001 and the TS-PGIC results at week 8 indicated that 76% of patients were much improved or very much improved compared with baseline. The mean (SD daily deutetrabenazine dose at week 8 was 32.1 (6.6 mg (range 18–36 mg. One week after withdrawal of deutetrabenazine, the TTS scores increased by 5.6 (8.4 points, providing confirmation of the drug effect. No serious or severe adverse events were reported. Discussion: The results of this open-label 8-week study suggest that deutetrabenazine is safe and associated with improvement in tic severity in adolescents with TS and troublesome tics.
Complex phonic tic and disinhibition in Tourette syndrome: case report

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Maia Débora Palmini

2001-01-01

Full Text Available Tourette syndrome (TS is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8% to 26% of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex.
Intrapartum diagnostic of Roberts syndrome - case presentation.

Science.gov (United States)

Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

2015-01-01

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.
A comparison of standard definitions and sagittal abdominal diameter as a measure of excess adiposity when defining metabolic syndrome in adolescents

Science.gov (United States)

Introduction: Metabolic syndrome (MeTS) is the cluster of several clinical symptoms that together represent the strongest risk factor for cardiovascular disease. The prevalence of MeTS in adolescents is difficult to estimate given that there are several, but no agreed upon defini...
Long-term effects of oxandrolone treatment in childhood on neurocognition, wellbeing and social-emotional functioning in young adults with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Verhaak, C.M.; Sas, T.C.J.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

2015-01-01

Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

The integrable quantum group invariant A2n-1(2) and Dn+1(2) open spin chains

Science.gov (United States)

Nepomechie, Rafael I.; Pimenta, Rodrigo A.; Retore, Ana L.

2017-11-01

A family of A2n(2) integrable open spin chains with Uq (Cn) symmetry was recently identified in arxiv:arXiv:1702.01482. We identify here in a similar way a family of A2n-1(2) integrable open spin chains with Uq (Dn) symmetry, and two families of Dn+1(2) integrable open spin chains with Uq (Bn) symmetry. We discuss the consequences of these symmetries for the degeneracies and multiplicities of the spectrum. We propose Bethe ansatz solutions for two of these models, whose completeness we check numerically for small values of n and chain length N. We find formulas for the Dynkin labels in terms of the numbers of Bethe roots of each type, which are useful for determining the corresponding degeneracies. In an appendix, we briefly consider Dn+1(2) chains with other integrable boundary conditions, which do not have quantum group symmetry.
The integrable quantum group invariant A2n−1(2 and Dn+1(2 open spin chains

Directory of Open Access Journals (Sweden)

Rafael I. Nepomechie

2017-11-01

Full Text Available A family of A2n(2 integrable open spin chains with Uq(Cn symmetry was recently identified in arXiv:1702.01482. We identify here in a similar way a family of A2n−1(2 integrable open spin chains with Uq(Dn symmetry, and two families of Dn+1(2 integrable open spin chains with Uq(Bn symmetry. We discuss the consequences of these symmetries for the degeneracies and multiplicities of the spectrum. We propose Bethe ansatz solutions for two of these models, whose completeness we check numerically for small values of n and chain length N. We find formulas for the Dynkin labels in terms of the numbers of Bethe roots of each type, which are useful for determining the corresponding degeneracies. In an appendix, we briefly consider Dn+1(2 chains with other integrable boundary conditions, which do not have quantum group symmetry.
Takotsubo syndrome and estrogen receptor genes: partners in crime?

Science.gov (United States)

Pizzino, Gabriele; Bitto, Alessandra; Crea, Pasquale; Khandheria, Bijoy; Vriz, Olga; Carerj, Scipione; Squadrito, Francesco; Minisini, Rosalba; Citro, Rodolfo; Cusmà-Piccione, Maurizio; Madaffari, Antonio; Andò, Giuseppe; Altavilla, Domenica; Zito, Concetta

2017-04-01

We aimed to analyze genetic polymorphism of estrogen receptor (ESR) 1 and ESR2 in a series of postmenopausal women with Takotsubo syndrome (TS). In total, 81 consecutive white women were prospectively enrolled: 22 with TS (TS group; mean age 71.2 ± 9.8 years), 22 with acute myocardial infarction (MI group; mean age 73.2 ± 8 years), and 37 asymptomatic healthy controls (CTRL group; mean age 69 ± 4.2 years). Genotyping of ESR1 -397C>T (rs2234693) and -351A>G (rs9340799) and ESR2 -1839G>T (rs 1271572) and 1082G>A (rs1256049) genetic variants was performed. We estimated the odds ratio (OR) between the genotype of each examined locus with the occurrence of TS or MI. The risk of experiencing TS was higher for those study participants carrying the T allele at the rs2234693 locus of the ESR1 gene [OR: 2.0, 95% confidence interval (CI): 0.973-4.11, P = 0.04, TS vs. MI + CTRL; OR: 2.79, 95% CI: 1.17-6.64, P = 0.016, TS vs. MI alone]. Women carrying a T allele at the rs1271572 locus of the ESR2 gene demonstrated an even higher risk (OR: 3.23, 95% CI: 1.55-6.73, P = 0.0019, TS vs. MI + CTRL; OR: 9.13, 95% CI: 2.78-29.9, P = 0.0001, TS vs. MI alone). The study reports preliminary findings suggesting a possible link between ESR polymorphisms and the occurrence of TS. Larger studies are needed to confirm our results.
Rupture of DN 500 - design basic accident at units 3 and 4 of Kozloduy NPP

International Nuclear Information System (INIS)

Uruchev, V.; Vassilev, P.; Ivanova, A.; Sartmadjiev, A.

2005-01-01

The original design of Kozloduy NPP Units 3 and 4 assumes as Design Basis Accident (DBA) the rupture of DN 32 mm primary pipeline, while an initial event of double-sided guillotine break of primary pipeline with maximal diameter is not considered. In the course of units modernization it have been demonstrated once and again that both the emergency core cooling systems and the localization systems can cope with larger and larger primary circuit leaks. After the installation of a Jet-Vortex Condenser (JVC) at Units 3 and 4 it was substantiated that, the integrity of the hermetic rooms is ensured even in case of double-sided guillotine break of a primary circuit pipeline with maximal diameter (DEGB). The technical justification of the jet-vortex condenser, elaborated by VNIAEC, contains calculations determining both the source term and the doses obtained outside the NPP site after LOCA DN 500. LOCA DN 500 is considered in these analyses as a beyond design basis accident and it is so included in the SAR and approved by the Nuclear Regulatory Agency (NRA). The thermo-hydraulic calculations performed later on show that the emergency core cooling systems can cope with this initial event at conservative assumptions. In order to classify this initiating event as a design basis accident it is necessary to demonstrate that the core cooling criteria are fulfilled and the internal and external doses outside the NPP site are within the permissible limits fixed for design basis accident by the Bulgarian regulatory body (NRA), when using conservative assumptions. For this purpose two consecutive studies were performed - evaluation of the DEGB probability and categorization of the initial event according to the contemporary regulations acting in Republic of Bulgaria. The presented report summarizes the results of the performed conservative analyses of double-sided guillotine break accident of main circulation line taking into account the probability of rupture of large diameter
T-S Fuzzy Modelling and H∞ Attitude Control for Hypersonic Gliding Vehicles

Directory of Open Access Journals (Sweden)

Weidong Zhang

2017-01-01

Full Text Available This paper addresses the T-S fuzzy modelling and H∞ attitude control in three channels for hypersonic gliding vehicles (HGVs. First, the control-oriented affine nonlinear model has been established which is transformed from the reentry dynamics. Then, based on Taylor’s expansion approach and the fuzzy linearization approach, the homogeneous T-S local modelling technique for HGVs is proposed. Given the approximation accuracy and controller design complexity, appropriate fuzzy premise variables and operating points of interest are selected to construct the T-S homogeneous submodels. With so-called fuzzy blending, the original plant is transformed into the overall T-S fuzzy model with disturbance. By utilizing Lyapunov functional approach, a state feedback fuzzy controller has been designed based on relaxed linear matrix inequality (LMI conditions to stable the original plants with a prescribed H∞ performance of disturbance. Finally, numerical simulations are performed to demonstrate the effectiveness of the proposed H∞ T-S fuzzy controller for the original attitude dynamics; the superiority of the designed T-S fuzzy controller compared with other local controllers based on the constructed fuzzy model is shown as well.
Automotive standard ISO/TS 16949 as a quality determinant

Directory of Open Access Journals (Sweden)

Joanna Rosak-Szyrocka

2016-03-01

Full Text Available The main aim of this paper is to present the standard ISO/TS 16949. In the modern world of competition, quality is one of the most important factors. Modern organizations should gamble on quality, regardless of the type of business, because it is the basic form of running a business effectively. It is not only a factor of market success, but also an indication of organizational culture.
Λ{sub b} → π{sup -}(D{sub s}{sup -})Λ{sub c}(2595), π{sup -}(D{sub s}{sup -})Λ{sub c}(2625) decays and DN, D*N molecular components

Energy Technology Data Exchange (ETDEWEB)

Liang, Wei-Hong [Guangxi Normal University, Department of Physics, Guilin (China); Centro Mixto Universidad de Valencia-CSIC Institutos de Investigacion de Paterna, Departamento de Fisica Teorica y IFIC, Valencia (Spain); Bayar, Melahat [Kocaeli University, Department of Physics, Izmit (Turkey); Oset, Eulogio [Centro Mixto Universidad de Valencia-CSIC Institutos de Investigacion de Paterna, Departamento de Fisica Teorica y IFIC, Valencia (Spain)

2017-01-15

From the perspective that Λ{sub c}(2595) and Λ{sub c}(2625) are dynamically generated resonances from the DN, D*N interaction and coupled channels, we have evaluated the rates for Λ{sub b} → π{sup -}Λ{sub c}(2595) and Λ{sub b} → π{sup -}Λ{sub c}(2625) up to a global unknown factor that allows us to calculate the ratio of rates and compare with experiment, where good agreement is found. Similarly, we can also make predictions for the ratio of rates of the, yet unknown, decays of Λ{sub b} → D{sub s}{sup -}Λ{sub c}(2595) and Λ{sub b} → D{sub s}{sup -}Λ{sub c}(2625) and make estimates for their individual branching fractions. (orig.)
Tic symptom dimensions and their heritabilities in Tourette's syndrome

NARCIS (Netherlands)

de Haan, Marcel J; Delucchi, Kevin L; Mathews, Carol M; Cath, Danielle C

INTRODUCTION: Gilles de la Tourette's syndrome (TS) is both genotypically and phenotypically heterogeneous. Gene-finding strategies have had limited success, possibly because of symptom heterogeneity. OBJECTIVE: This study aimed at specifically investigating heritabilities of tic symptom factors in
Assessment of reproductive and developmental effects of DINP, DnHP and DCHP using quantitative weight of evidence.

Science.gov (United States)

Dekant, Wolfgang; Bridges, James

2016-11-01

Quantitative weight of evidence (QWoE) methodology utilizes detailed scoring sheets to assess the quality/reliability of each publication on toxicity of a chemical and gives numerical scores for quality and observed toxicity. This QWoE-methodology was applied to the reproductive toxicity data on diisononylphthalate (DINP), di-n-hexylphthalate (DnHP), and dicyclohexylphthalate (DCHP) to determine if the scientific evidence for adverse effects meets the requirements for classification as reproductive toxicants. The scores for DINP were compared to those when applying the methodology DCHP and DnHP that have harmonized classifications. Based on the quality/reliability scores, application of the QWoE shows that the three databases are of similar quality; but effect scores differ widely. Application of QWoE to DINP studies resulted in an overall score well below the benchmark required to trigger classification. For DCHP, the QWoE also results in low scores. The high scores from the application of the QWoE methodology to the toxicological data for DnHP represent clear evidence for adverse effects and justify a classification of DnHP as category 1B for both development and fertility. The conclusions on classification based on the QWoE are well supported using a narrative assessment of consistency and biological plausibility. Copyright Â© 2016 The Authors. Published by Elsevier Inc. All rights reserved.
Study of the Integration of the CNU-TS-1 Mobile Tunnel Monitoring System.

Science.gov (United States)

Du, Liming; Zhong, Ruofei; Sun, Haili; Zhu, Qiang; Zhang, Zhen

2018-02-01

A rapid, precise and automated means for the regular inspection and maintenance of a large number of tunnels is needed. Based on the depth study of the tunnel monitoring method, the CNU-TS-1 mobile tunnel monitoring system (TS1) is developed and presented. It can efficiently obtain the cross-sections that are orthogonal to the tunnel in a dynamic way, and the control measurements that depend on design data are eliminated. By using odometers to locate the cross-sections and correcting the data based on longitudinal joints of tunnel segment lining, the cost of the system has been significantly reduced, and the interval between adjacent cross-sections can reach 1-2 cm when pushed to collect data at a normal walking speed. Meanwhile, the relative deformation of tunnel can be analyzed by selecting cross-sections from original data. Through the measurement of the actual tunnel, the applicability of the system for tunnel deformation detection is verified, and the system is shown to be 15 times more efficient than that of the total station. The simulation experiment of the tunnel deformation indicates that the measurement accuracy of TS1 for cross-sections is 1.1 mm. Compared with the traditional method, TS1 improves the efficiency as well as increases the density of the obtained points.
Study of the Integration of the CNU-TS-1 Mobile Tunnel Monitoring System

Directory of Open Access Journals (Sweden)

Liming Du

2018-02-01

Full Text Available A rapid, precise and automated means for the regular inspection and maintenance of a large number of tunnels is needed. Based on the depth study of the tunnel monitoring method, the CNU-TS-1 mobile tunnel monitoring system (TS1 is developed and presented. It can efficiently obtain the cross-sections that are orthogonal to the tunnel in a dynamic way, and the control measurements that depend on design data are eliminated. By using odometers to locate the cross-sections and correcting the data based on longitudinal joints of tunnel segment lining, the cost of the system has been significantly reduced, and the interval between adjacent cross-sections can reach 1–2 cm when pushed to collect data at a normal walking speed. Meanwhile, the relative deformation of tunnel can be analyzed by selecting cross-sections from original data. Through the measurement of the actual tunnel, the applicability of the system for tunnel deformation detection is verified, and the system is shown to be 15 times more efficient than that of the total station. The simulation experiment of the tunnel deformation indicates that the measurement accuracy of TS1 for cross-sections is 1.1 mm. Compared with the traditional method, TS1 improves the efficiency as well as increases the density of the obtained points.
Guillain-Barre Syndrome Presenting as Acute Abdomen

Directory of Open Access Journals (Sweden)

Faruk incecik

2015-09-01

Full Text Available Guillain-Barr and eacute; syndrome (GBS is the most common cause of acute flaccid paralysis in childhood. Symmetric weakness, headache, respiratory symptom, neuropathic pain, muscle pain, paresthesia, and facial palsy were the most common clinical presentations. We report 13-year-old boy with GBS who presented with acute abdominal pain. This is the first report, to our knowledge, first presented of acute abdomen of a pediatric patient with GBS. [Cukurova Med J 2015; 40(3.000: 601-603
Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Directory of Open Access Journals (Sweden)

Ozyurt Abdullah

2015-06-01

Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.
The Prediction of the Gas Utilization Ratio based on TS Fuzzy Neural Network and Particle Swarm Optimization.

Science.gov (United States)

Zhang, Sen; Jiang, Haihe; Yin, Yixin; Xiao, Wendong; Zhao, Baoyong

2018-02-20

Gas utilization ratio (GUR) is an important indicator that is used to evaluate the energy consumption of blast furnaces (BFs). Currently, the existing methods cannot predict the GUR accurately. In this paper, we present a novel data-driven model for predicting the GUR. The proposed approach utilized both the TS fuzzy neural network (TS-FNN) and the particle swarm algorithm (PSO) to predict the GUR. The particle swarm algorithm (PSO) is applied to optimize the parameters of the TS-FNN in order to decrease the error caused by the inaccurate initial parameter. This paper also applied the box graph (Box-plot) method to eliminate the abnormal value of the raw data during the data preprocessing. This method can deal with the data which does not obey the normal distribution which is caused by the complex industrial environments. The prediction results demonstrate that the optimization model based on PSO and the TS-FNN approach achieves higher prediction accuracy compared with the TS-FNN model and SVM model and the proposed approach can accurately predict the GUR of the blast furnace, providing an effective way for the on-line blast furnace distribution control.
A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

LENUS (Irish Health Repository)

Chan, Jeffrey C Y

2008-01-01

Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.
Evaluation of the egg transmission and pathogenicity of Mycoplasma gallisepticum isolates genotyped as ts-11.

Science.gov (United States)

Armour, Natalie K; Ferguson-Noel, Naola

2015-01-01

Live Mycoplasma gallisepticum vaccines are used for the control of respiratory disease, egg production losses and egg transmission associated with M. gallisepticum infection in long-lived poultry. The first field case of apparent increased virulence and vertical transmission of ts-11, a live M. gallisepticum vaccine, has been reported. In that study a M. gallisepticum isolate from the broiler progeny of ts-11-vaccinated breeders was genotyped as ts-11 by sequence analysis of four different genetic targets and Random Amplified Polymorphic DNA and found to be significantly more virulent than ts-11 vaccine. The objective of the current study was to evaluate the rate of egg transmission and pathogenicity of ts-11 vaccine and isolates recovered from ts-11-vaccinated breeders (K6222B) and their broiler progeny (K6216D) which had been genotyped as ts-11. Groups of 28-week-old specific pathogen-free chickens at 87% average weekly egg production were inoculated with sterile broth media (negative controls), ts-11 vaccine, K6222B, K6216D or R strain (positive controls) by eye-drop and aerosol. K6216D transmitted via the egg at an average rate of 4.0% in the third and fourth weeks post-infection, while egg transmission of K6222B and ts-11 vaccine was not detected. M. gallisepticum was isolated from the air sacs, ovaries and oviducts of hens infected with K6216D and K6222B, but not from those infected with ts-11 vaccine. K6216D and K6222B both induced respiratory signs and significantly more tracheal colonization and more severe tracheal and air sac lesions than ts-11 vaccine (P ≤ 0.05). There were no substantial differences in the egg production of ts-11, K6216D and K6222B infected groups. These results provide the first conclusive evidence of transovarian transmission of an isolate genotyped as ts-11 and indicate that isolates genotyed as ts-11 vary in their virulence and ability to transmit via the egg.
The Genetics of Obsessive-Compulsive Disorder and Tourette Syndrome: An Epidemiological and Pathway-Based Approach for Gene Discovery

Science.gov (United States)

Grados, Marco A.

2010-01-01

Objective: To provide a contemporary perspective on genetic discovery methods applied to obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). Method: A review of research trends in genetics research in OCD and TS is conducted, with emphasis on novel approaches. Results: Genome-wide association studies (GWAS) are now in progress in OCD…
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

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Guillaume Jedraszak

2015-01-01

Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.
Tourette Syndrome: Information for School Nurses

Science.gov (United States)

Golder, Tracy

2010-01-01

Tourette syndrome (TS) is a neurobehavioral disorder that consists of simple and complex tics. This disorder can significantly affect a child's self-esteem and academic success. Although some believe that only adults are affected, this disorder occurs most frequently in early childhood and symptoms decrease with age. Diagnosis of this disorder can…
Presentation of Depression in Autism and Asperger Syndrome: A Review

Science.gov (United States)

Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

2006-01-01

Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

DEFF Research Database (Denmark)

Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

2010-01-01

Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....
Finger Tapping-Related Activation Differences in Treatment-Naive Pediatric Tourette Syndrome: A Comparison of the Preferred and Nonpreferred Hand

Science.gov (United States)

Roessner, Veit; Wittfoth, Matthias; August, Julia M.; Rothenberger, Aribert; Baudewig, Jurgen; Dechent, Peter

2013-01-01

Background: Disturbances of motor circuitry are commonly encountered in Tourette syndrome (TS). The aim of this study was to investigate simple motor performance differences between boys with TS and healthy controls. Methods: We attempted to provide insight into motor network alterations by studying a group of treatment-naive patients suffering…
Do's and Don'ts for Liposuction

Science.gov (United States)

... for Every Season How to Choose the Best Skin Care Products In This Section Dermatologic Surgery What is dermatologic ... for Every Season How to Choose the Best Skin Care Products Do's and don’ts for liposuction Don’t ...
Condensation pool experiments with steam using DN200 blowdown pipe

International Nuclear Information System (INIS)

Laine, J.; Puustinen, M.

2005-08-01

This report summarizes the results of the condensation pool experiments with steam using a DN200 blowdown pipe. Altogether five experiment series, each consisting of several steam blows, were carried out in December 2004 with a scaled-down test facility designed and constructed at Lappeenranta University of Technology. The main purpose of the experiments was to increase the understanding of different phenomena in the condensation pool during steam discharge. (au)
Primary Antiphospholipid Syndrome: Unusual Presentation in a ...

African Journals Online (AJOL)

A 72 year old man with a history of TIAs and stroke with unexplained moderately raised ESR presented a year later with rapid deterioration of vision in his left eye because of central retinal vein occlusion. Primary antiphospholipid syndrome is found in patients with history of arterial or venous thromboembolism, ...
Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

Science.gov (United States)

Mathews, Carol A.; Grados, Marco A.

2011-01-01

Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…
Primary Sjogren's syndrome presenting as Acute Flaccid Quadriplegia:

OpenAIRE

Singhvi, J.P.; Ganguli, Anirban; Kaur, Bramhjyot

2010-01-01

Primary Sjogren's Syndrome presenting as quadriplegia and respiratory involvement due to renal tubular acidosis causing hypokalemia is rare and the significance of managing such case with potassium citrate instead of potassium chloride is highlighted.
Diffusion tractography and graph theory analysis reveal the disrupted rich-club organization of white matter structural networks in early Tourette Syndrome children

Science.gov (United States)

Wen, Hongwei; Liu, Yue; Wang, Shengpei; Zhang, Jishui; Peng, Yun; He, Huiguang

2017-03-01

Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder. At present, the topological disruptions of the whole brain white matter (WM) structural networks remain poorly understood in TS children. Considering the unique position of the topologically central role of densely interconnected brain hubs, namely the rich club regions, therefore, we aimed to investigate whether the rich club regions and their related connections would be particularly vulnerable in early TS children. In our study, we used diffusion tractography and graph theoretical analyses to explore the rich club structures in 44 TS children and 48 healthy children. The structural networks of TS children exhibited significantly increased normalized rich club coefficient, suggesting that TS is characterized by increased structural integrity of this centrally embedded rich club backbone, potentially resulting in increased global communication capacity. In addition, TS children showed a reorganization of rich club regions, as well as significantly increased density and decreased number in feeder connections. Furthermore, the increased rich club coefficients and feeder connections density of TS children were significantly positively correlated to tic severity, indicating that TS may be characterized by a selective alteration of the structural connectivity of the rich club regions, tending to have higher bridging with non-rich club regions, which may increase the integration among tic-related brain circuits with more excitability but less inhibition for information exchanges between highly centered brain regions and peripheral areas. In all, our results suggest the disrupted rich club organization in early TS children and provide structural insights into the brain networks.
The First World Congress on Tourette Syndrome and Tic Disorders: Controversies and Hot Topics in Etiology and Treatment

Science.gov (United States)

Mathews, Carol A.; Stern, Jeremy S.

2016-01-01

The first World Congress on Tourette Syndrome and Tic Disorders was held in London, June 2016 by the Tourette Association of America, Tourettes Action (UK), and the European Society for the Study of Tourette Syndrome. Presentations arising from large-scale collaborative projects were an important component of the scientific programme. This article focuses on areas raised in the hot topics session and two moderated debates, which covered emerging research in etiology and treatment. The hot topics ranged across genetics, arguably including the first confirmed Tourette Syndrome (TS) susceptibility gene NRXN1, neurocognition, and neurophysiology, including the possibility of a neurocognitive endophenotype for TS and the use of depth and cortical surface electrodes to investigate the neurophysiology of tics on the background of the evolving field of deep brain stimulation (DBS), to novel treatment approaches such as dental orthotics and an online behavioral intervention. The debates aired controversies in treatment; pharmacotherapy vs. behavioral treatment and the place of medical cannabinoids. These sessions demonstrate the vibrancy of a field that has considerably expanded in the last decade, the significant progress that has been made, and the direction that some of the most fruitful next phases of research will take. PMID:27375411
Clinical care of adult Turner syndrome--new aspects

DEFF Research Database (Denmark)

Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E

2012-01-01

Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...
Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

Science.gov (United States)

Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

2017-07-01

Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.
Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

Directory of Open Access Journals (Sweden)

Shruti Thakur

2017-07-01

Full Text Available Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus.
Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Verhaak, C.M.; Sas, T.C.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Keizer-Schrama, S.M.; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

2015-01-01

Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored
Identification and characterization of a Bacillus subtilis strain TS06 ...

African Journals Online (AJOL)

Replant disease is a major limitation for strawberry production in greenhouse. Bio-control may be a good way to cope with the replant diseases. Here, we report identification and characterization of a bacterial strain TS06 that may be used as a bio-control agent against the replant diseases in strawberry. TS06 was identified ...
Imaging evidence for anatomical disturbances and neuroplastic compensation in persons with Tourette syndrome

DEFF Research Database (Denmark)

Plessen, Kerstin J; Bansal, Ravi; Peterson, Bradley S

2009-01-01

BACKGROUND: Tourette syndrome (TS) is a disorder of chronic motor and vocal tics that begins in childhood. METHODS: A systematic Medline search was conducted to identify existing anatomical imaging studies in persons with TS. RESULTS: Thirty studies were identified, and their methods and findings...... were reviewed. Findings of reduced caudate volumes across the life span and thinning of sensorimotor cortices that is proportional with tic severity in children with TS implicate these regions in the genesis of tics. Hypertrophy of limbic and prefrontal cortices and a smaller corpus callosum accompany...... fewer symptoms in children with TS, likely representing an activity-dependent plasticity within these regions that help to modulate tic severity. CONCLUSION: Although existing studies differ with respect to sample size, gender composition, quality of clinical characterization, pulse sequences...
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Science.gov (United States)

Furlano, Mónica; Barreiro, Yaima; Martí, Teresa; Facundo, Carme; Ruiz-García, César; DaSilva, Iara; Ayasreh, Nadia; Cabrera-López, Cristina; Ballarín, José; Ars, Elisabet; Torra, Roser

We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment. Copyright © 2017 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.
Genetic association signal near NTN4 in Tourette Syndrome

Science.gov (United States)

Paschou, Peristera; Yu, Dongmei; Gerber, Gloria; Evans, Patrick; Tsetsos, Fotis; Davis, Lea K.; Karagiannidis, Iordanis; Chaponis, Jonathan; Gamazon, Eric; Mueller-Vahl, Kirsten; Stuhrmann, Manfred; Schloegelhofer, Monika; Stamenkovic, Mara; Hebebrand, Johannes; Noethen, Markus; Nagy, Peter; Barta, Csaba; Tarnok, Zsanett; Rizzo, Renata; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Cath, Danielle C.; Budman, Cathy L.; Sandor, Paul; Barr, Cathy; Wolanczyk, Thomas; Singer, Harvey; Chou, I-Ching; Grados, Marco; Posthuma, Danielle; Rouleau, Guy A.; Aschauer, Harald; Freimer, Nelson B.; Pauls, David L.; Cox, Nancy J.; Mathews, Carol A.; Scharf, Jeremiah M.

2014-01-01

Tourette Syndrome (TS) is a neurodevelopmental disorder with a complex genetic etiology. Through an international collaboration, we genotyped 42 single nucleotide polymorphisms (SNPs)(p<10−3) from the recent TS genome-wide association study (GWAS) in 609 independent cases and 610 ancestry-matched controls. Only rs2060546 on chromosome 12q22 (p=3.3×10−4) remained significant after Bonferroni correction. Meta-analysis with the original GWAS yielded the strongest association to date (p=5.8×10−7). Although its functional significance is unclear, rs2060546 lies closest to NTN4, an axon guidance molecule expressed in developing striatum. Risk score analysis significantly predicted case/control status (p=0.042), suggesting that many of these variants are true TS risk alleles. PMID:25042818
Clinical assessment of Tourette syndrome and tic disorders.

Science.gov (United States)

Cohen, Stephanie C; Leckman, James F; Bloch, Michael H

2013-07-01

Tourette syndrome (TS) is a neuropsychiatric disorder involving multiple motor and phonic tics. Tics, which usually begin between the ages of 6 and 8, are sudden, rapid, stereotyped, and apparently purposeless movements or sounds that involve discrete muscle groups. Individuals with TS experience a variety of different sensory phenomena, including premonitory urges prior to tics and somatic hypersensitivity due to impaired sensorimotor gating. In addition to other conditions, stress, anxiety, fatigue, or other heightened emotional states tend to exacerbate tics, while relaxation, playing sports, and focused concentration on a specific task tend to alleviate tic symptoms. Ninety percent of children with TS also have comorbid conditions, such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or an impulse control disorder. These disorders often cause more problems for the child both at home and at school than tics do alone. Proper diagnosis and treatment of TS involves appropriate evaluation and recognition, not only of tics, but also of these associated conditions. Copyright © 2013. Published by Elsevier Ltd.
Rett syndrome: EEG presentation.

Science.gov (United States)

Robertson, R; Langill, L; Wong, P K; Ho, H H

1988-11-01

Rett syndrome, a degenerative neurological disorder of girls, has a classical presentation and typical EEG findings. The electroencephalograms (EEGs) of 7 girls whose records have been followed from the onset of symptoms to the age of 5 or more are presented. These findings are tabulated with the Clinical Staging System of Hagberg and Witt-Engerström (1986). The records show a progressive deterioration in background rhythms in waking and sleep. The abnormalities of the background activity may only become evident at 4-5 years of age or during stage 2--the Rapid Destructive Stage. The marked contrast between waking and sleep background may not occur until stage 3--the Pseudostationary Stage. In essence EEG changes appear to lag behind clinical symptomatology by 1-3 years. An unexpected, but frequent, abnormality was central spikes seen in 5 of 7 girls. They appeared to be age related and could be evoked by tactile stimulation in 2 patients. We hypothesize that the prominent 'hand washing' mannerism may be self-stimulating and related to the appearance of central spike discharges.
Application of ISO/TS 16949:2009 in Forest Products Industry

OpenAIRE

SEVİM KORKUT, Derya; SOLAK, Ertan

2016-01-01

The aim of the study is to present the short, medium and long term benefits of the activities in the basis of quality management development and in the context of ISO/TS 16949 Automotive Sub-Industry Quality Management System which determines the service standards of a forest products facility as an automotive sub-industry supplier, to be shown as an example to similar facilities. In this study which aims to present the facility’s character an examination has been done via supplier, productio...

Polymyositis-like syndrome caused by hypothyroidism, presenting as camptocormia.

Science.gov (United States)

Kim, Ji Min; Song, Eun Joo; Seo, Jae Seok; Nam, Eon Jeong; Kang, Young Mo

2009-01-01

Polymyositis-like syndrome characterized by proximal muscle weakness and elevation of muscle enzymes may be a presenting manifestation of hypothyroidism. Camptocormia, which can be caused by myopathy of the paraspinal muscles, is an involuntary truncal flexion of the thoracolumbar spine while standing or walking. Among various neuromuscular disorders, hypothyroidism has not been reported in the literature as a cause of camptocormia. This is the first report of polymyositis-like syndrome with camptocormia caused by hypothyroidism.
Effect of the consumption of a fermented dairy product containing Bifidobacterium lactis DN-173 010 on constipation in childhood: a multicentre randomised controlled trial (NTRTC: 1571).

Science.gov (United States)

Tabbers, Merit M; Chmielewska, Ania; Roseboom, Maaike G; Boudet, Claire; Perrin, Catherine; Szajewska, Hania; Benninga, Marc A

2009-03-18

Constipation is a frustrating symptom affecting 3% of children worldwide. Randomised controlled trials show that both polyethylene glycol and lactulose are effective in increasing defecation frequency in children with constipation. However, in 30-50%, these children reported abdominal pain, bloating, flatulence, diarrhoea, nausea and bad taste of the medication. Two recent studies have shown that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency in constipation-predominant irritable bowel syndrome patients with a defecation frequency fermented dairy product is effective in the treatment of constipated children with a defecation frequency fermented dairy product containing Bifidobacterium lactis DN-173 010 or a control product, twice a day, for 3 weeks. During the study all children are instructed to try to defecate on the toilet for 5-10 minutes after each meal (3 times a day) and daily complete a standardized bowel diary. Primary endpoint is stool frequency. Secondary endpoints are stool consistency, faecal incontinence frequency, pain during defecation, digestive symptoms (abdominal pain, flatulence), adverse effects (nausea, diarrhoea, bad taste) and intake of rescue medication (Bisacodyl). Rate of success and rate of responders are also evaluated, with success defined as > or = 3 bowel movements per week and or = 3 on the last week of product consumption. To demonstrate that the success percentage in the intervention group will be 35% and the success percentage in the control group (acidified milk without ferments, toilet training, bowel diary) will be 15%, with alpha 0.05 and power 80%, a total sample size of 160 patients was calculated. This study is aimed to show that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency after 3 weeks of product consumption in children with functional constipation and a defecation
Adult presentation of Bartter syndrome type IV with erythrocytosis.

Science.gov (United States)

Heilberg, Ita Pfeferman; Tótoli, Cláudia; Calado, Joaquim Tomaz

2015-01-01

Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.
Overexpression of an orchid (Dendrobium nobile SOC1/TM3-like ortholog, DnAGL19, in Arabidopsis regulates HOS1-FT expression

Directory of Open Access Journals (Sweden)

Xiao-ru eLiu

2016-02-01

Full Text Available Flowering in the appropriate season is critical for successful reproduction in angiosperms. The orchid species, Dendrobium nobile, requires vernalization to achieve flowering in the spring, but the underlying regulatory network has not been identified to date. The MADS-box transcription factor DnAGL19 was previously identified in a study of low-temperature treated D. nobile buds and was suggested to regulate vernalization-induced flowering. In this study, phylogenetic analysis of DnAGL9 and the MADS-box containing proteins showed that DnAGL19 is phylogenetically closely related to the SOC1-like protein from orchid Dendrobium Chao Parya Smile, DOSOC1. The orchid clade closed to but is not included into the SOC1-1/TM3 clades associated with either eudicots or monocots, suggesting that DnAGL19 is an SOC1-1/TM3-like ortholog. DnAGL19 was found to be highly expressed in pseudobulbs, leaves, roots and axillary buds but rarely in flowers, and to be substantially upregulated in axillary buds by prolonged low-temperature treatments. Overexpression of DnAGL19 in Arabidopsis thaliana resulted in a small but significantly reduced time to bolting, suggesting that flowering time was slightly accelerated under normal growth conditions. Consistent with this, the A. thaliana APETELA1 (AP1 gene was expressed at an earlier stage in transgenic lines than in wild type plants, while the FLOWERING LOCUS T (FT gene was suppressed, suggesting that altered regulations on these transcription factors caused the weak promotion of flowering. HIGH EXPRESSION OF OSMOTICALLY RESPONSIVE GENE 1 (HOS1 was slightly activated under the same conditions, suggesting that the HOS1-FT module may be involved in the DnAGL19-related network. Under vernalization conditions, FT expression was significantly upregulated, whereas HOS1 expression in the transgenic A. thaliana has a level similar to that in wild type. Taken together, these results suggest that DnAGL19 controls the action of the
Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome.

Science.gov (United States)

Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

2011-01-01

Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we describe a theoretical framework that assumes potential emotional disorders in Parkinson's disease and Tourette's syndrome based on motor disorders characterizing these two pathologies. We also review different methodological barriers in previous experimental designs that could enable the identification of emotional facial expressions despite emotional disorders in PD and TS.
Parental Age and Assisted Reproductive Technology in Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, and Tourette Syndrome in a Japanese Population

Science.gov (United States)

Shimada, Takafumi; Kitamoto, Atsushi; Todokoro, Ayako; Ishii-Takahashi, Ayaka; Kuwabara, Hitoshi; Kim, Soo-Yung; Watanabe, Kei-ichiro; Minowa, Iwao; Someya, Toshikazu; Ohtsu, Hiroshi; Osuga, Yutaka; Kano, Yukiko; Kasai, Kiyoto; Kato, Nobumasa; Sasaki, Tsukasa

2012-01-01

We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD (n = 87), and TS (n = 123) were reviewed. Parental age of…
Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

Directory of Open Access Journals (Sweden)

Xie Ying

2012-05-01

Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.
Abnormal neuronal activity in Tourette syndrome and its modulation using deep brain stimulation

Science.gov (United States)

Israelashvili, Michal; Loewenstern, Yocheved

2015-01-01

Tourette syndrome (TS) is a common childhood-onset disorder characterized by motor and vocal tics that are typically accompanied by a multitude of comorbid symptoms. Pharmacological treatment options are limited, which has led to the exploration of deep brain stimulation (DBS) as a possible treatment for severe cases. Multiple lines of evidence have linked TS with abnormalities in the motor and limbic cortico-basal ganglia (CBG) pathways. Neurophysiological data have only recently started to slowly accumulate from multiple sources: noninvasive imaging and electrophysiological techniques, invasive electrophysiological recordings in TS patients undergoing DBS implantation surgery, and animal models of the disorder. These converging sources point to system-level physiological changes throughout the CBG pathway, including both general altered baseline neuronal activity patterns and specific tic-related activity. DBS has been applied to different regions along the motor and limbic pathways, primarily to the globus pallidus internus, thalamic nuclei, and nucleus accumbens. In line with the findings that also draw on the more abundant application of DBS to Parkinson's disease, this stimulation is assumed to result in changes in the neuronal firing patterns and the passage of information through the stimulated nuclei. We present an overview of recent experimental findings on abnormal neuronal activity associated with TS and the changes in this activity following DBS. These findings are then discussed in the context of current models of CBG function in the normal state, during TS, and finally in the wider context of DBS in CBG-related disorders. PMID:25925326
Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

DEFF Research Database (Denmark)

Viuff, Mette Hansen; Krag, Kirstine Stochholm; Uldbjerg, Niels

2015-01-01

significantly higher NT and lower PAPP-A compared with controls (all P legal abortion rate was high for all four syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights...... and placenta weights than non-SCA controls (both P = 0.0001). A few SCA cases localized in DCCR could not be found in DFMD (n = 16). LIMITATIONS, REASON FOR CAUTION: Controls were matched on sex of the fetus of cases, meaning that all electively aborted fetuses (before week 12) were excluded, possibly reducing...
Precursor effect on the property and catalytic behavior of Fe-TS-1 in butadiene epoxidation

Science.gov (United States)

Wu, Mei; Zhao, Huahua; Yang, Jian; Zhao, Jun; Song, Huanling; Chou, Lingjun

2017-11-01

The effect of iron precursor on the property and catalytic behavior of iron modified titanium silicalite molecular sieve (Fe-TS-1) catalysts in butadiene selective epoxidation has been studied. Three Fe-TS-1 catalysts were prepared, using iron nitrate, iron chloride and iron sulfate as precursors, which played an important role in adjusting the textural properties and chemical states of TS-1. Of the prepared Fe-TS-1 catalysts, those modified by iron nitrate (FN-TS-1) exhibited a significant enhanced performance in butadiene selective epoxidation compared to those derived from iron sulfate (FS-TS-1) or iron chloride (FC-TS-1) precursors. To obtain a deep understanding of their structure-performance relationship, X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS), Temperature programmed desorption of NH3 (NH3-TPD), Diffuse reflectance UV-Vis spectra (DR UV-Vis), Fourier transformed infrared spectra (FT-IR) and thermal gravimetric analysis (TGA) were conducted to characterize Fe-TS-1 catalysts. Experimental results indicated that textural structures and acid sites of modified catalysts as well as the type of Fe species influenced by the precursors were all responsible for the activity and product distribution.
Tics and Tourette syndrome: an adult perspective.

Science.gov (United States)

Galvez-Jimenez, Nestor

2012-07-01

Tourette syndrome (TS) is a disorder characterized by childhood onset multiple motor and vocal tics often accompanied by features of obsessive compulsive disorder, attention deficit hyperactivity disorder (ADHD), or other behavioral manifestations. Tics may be simple or complex, and may include motor and vocal components. Abnormal function of the basal ganglia is thought to be an important underlying cause of tics and other movement disorders. Treatment of TS requires a thorough understanding of the phenomenology of the disease for the individual patient, and should focus on symptoms that are especially troubling. Some nonpharmacologic approaches may help to improve tic severity, including conditioning techniques, relaxation training, and hypnosis. Options for pharmacotherapy include dopamine blockers and depleters, benzodiazepines, central alpha-adrenergic blockers, and botulinum toxin. Many patients require therapy for comorbid conditions such as anxiety, depression, or ADHD. In case studies and small patient series, deep brain stimulation has been shown to markedly reduce tic severity and functional impairment associated with TS. While onset is most frequently in childhood, TS should not be considered exclusively a disorder of pediatric patients. The complications and comorbidities that are encountered in children and adolescents often persist into adulthood.
Sensory phenomena related to tics, obsessive-compulsive symptoms, and global functioning in Tourette syndrome.

Science.gov (United States)

Kano, Yukiko; Matsuda, Natsumi; Nonaka, Maiko; Fujio, Miyuki; Kuwabara, Hitoshi; Kono, Toshiaki

2015-10-01

Sensory phenomena, including premonitory urges, are experienced by patients with Tourette syndrome (TS) and obsessive-compulsive disorder (OCD). The goal of the present study was to investigate such phenomena related to tics, obsessive-compulsive symptoms (OCS), and global functioning in Japanese patients with TS. Forty-one patients with TS were assessed using the University of São Paulo Sensory Phenomena Scale (USP-SPS), the Premonitory Urge for Tics Scale (PUTS), the Yale Global Tic Severity Scale (YGTSS), the Dimensional Yale-Brown Obsessive-Compulsive Scale (DY-BOCS), and the Global Assessment of Functioning (GAF) Scale. USP-SPS and PUTS total scores were significantly correlated with YGTSS total and vocal tics scores. Additionally, both sensory phenomena severity scores were significantly correlated with DY-BOCS total OCS scores. Of the six dimensional OCS scores, the USP-SPS scores were significantly correlated with measures of aggression and sexual/religious dimensions. Finally, the PUTS total scores were significantly and negatively correlated with GAF scores. By assessing premonitory urges and broader sensory phenomena, and by viewing OCS from a dimensional approach, this study provides significant insight into sensory phenomena related to tics, OCS, and global functioning in patients with TS. Copyright © 2015 Elsevier Inc. All rights reserved.
A Review and Update on Tourette Syndrome: Where Is the Field Headed?

Science.gov (United States)

Gunduz, Aysegul; Okun, Michael S

2016-04-01

Tourette syndrome (TS) is a childhood onset neurologic disorder with manifestations including multiple motor and phonic tics, and in most cases a variety of behavioral comorbidities such as attention deficit hyperactivity disorder, obsessive compulsive disorder, and other impulse control disorders. Although it is considered a hereditary disorder, likely modified by environmental factors, genetic studies have yet to uncover relevant causative genes and there is no animal model that mimics the broad clinical phenomenology of TS. There has been a marked increase in the number of neurophysiological, neuroimaging, and other studies on TS. The findings from these studies, however, have been difficult to interpret because of small sample sizes, variability of symptoms across patients, and comorbidities. Although anti-dopaminergic drugs are the most widely used medications in the treatment of TS, there has been increasing interest in other drugs, behavioral therapies, and surgical approaches including deep brain stimulation. Herein, we review the current literature and discuss the complexities of TS and the challenges in understanding its pathophysiology and in selecting the most appropriate treatment. We also offer an expert's view of where the field of TS may be headed.
Review of $V_{cb}$ and $V_{td}/V_{ts}$

OpenAIRE

Forty, Roger W

1997-01-01

The current experimental status of the CKM matrix element V_cb and the ratio V_td/V_ts is reviewed. Knowledge of these elements has a strong impact on the unitarity triangle, of interest for studies of CP violation in the B system. The measurements of V_cb from both inclusive semileptonic b decays and the exclusive channel B -> D* l nu are reaching high precision. For V_td/V_ts the strongest upper limit is derived from studies of B-Bbar mixing.
The effects of GH and hormone replacement therapy on serum concentrations of mannan-binding lectin, surfactant protein D and vitamin D binding protein in Turner syndrome

DEFF Research Database (Denmark)

Gravholt, Claus Højbjerg; Leth-Larsen, Rikke; Lauridsen, Anna Lis

2004-01-01

function. In the present study we examined whether GH or hormone replacement therapy (HRT) in Turner syndrome (TS) influence the serum concentrations of MBL and two other proteins partaking in the innate immune defence, surfactant protein D (SP-D) and vitamin D binding protein (DBP). DESIGN: Study 1...
Experiments in a boundary layer subjected to free stream turbulence. Part 2: The role of TS waves in the transition process

International Nuclear Information System (INIS)

Boiko, A.V.; Westin, K.J.A.; Klingmann, B.G.B.; Kozlov, V.V.; Alfredsson, P.H.

1993-12-01

The natural occurrence of Tollmien-Schlichting (TS) waves has so far only been observed in boundary layers subjected to moderate levels of free stream turbulence (Tu <1%), due to the difficulty in detecting small-amplitude waves in highly perturbed boundary layers. By introducing controlled oscillations with a vibrating ribbon, it is possible to study small amplitude waves using phase-selective filtering techniques. In the present work, the effect of TS-waves on the transition is studied at Tu = 1.5%. It is demonstrated that TS-waves can exist and develop in a similar way as in an undisturbed boundary layer. It is also found that TS-waves with quite small amplitudes are involved in nonlinear interactions which lead to a regeneration of TS-waves in the whole unstable frequency band. This results in a significant increase in the number of turbulent spots, which promote the onset of turbulence. 28 refs
REAC/TS Radiation Accident Registry: An Overview

Energy Technology Data Exchange (ETDEWEB)

Doran M. Christensen, DO, REAC/TS Associate Director and Staff Physician Becky Murdock, REAC/TS Registry and Health Physics Technician

2012-12-12

Over the past four years, REAC/TS has presented a number of case reports from its Radiation Accident Registry. Victims of radiological or nuclear incidents must meet certain dose criteria for an incident to be categorized as an “accident” and be included in the registry. Although the greatest numbers of “accidents” in the United States that have been entered into the registry involve radiation devices, the greater percentage of serious accidents have involved sealed sources of one kind or another. But if one looks at the kinds of accident scenarios that have resulted in extreme consequence, i.e., death, the greater share of deaths has occurred in medical settings.
Genetic susceptibility and neurotransmitters in Tourette syndrome.

Science.gov (United States)

Paschou, Peristera; Fernandez, Thomas V; Sharp, Frank; Heiman, Gary A; Hoekstra, Pieter J

2013-01-01

Family studies have consistently shown that Tourette syndrome (TS) is a familial disorder and twin studies have clearly indicated a genetic contribution in the etiology of TS. Whereas early segregation studies of TS suggested a single-gene autosomal dominant disorder, later studies have pointed to more complex models including additive and multifactorial inheritance and likely interaction with genetic factors. While the exact cellular and molecular base of TS is as yet elusive, neuroanatomical and neurophysiological studies have pointed to the involvement of cortico-striato-thalamocortical circuits and abnormalities in dopamine, glutamate, gamma-aminobutyric acid, and serotonin neurotransmitter systems, with the most consistent evidence being available for involvement of dopamine-related abnormalities, that is, a reduction in tonic extracellular dopamine levels along with hyperresponsive spike-dependent dopamine release, following stimulation. Genetic and gene expression findings are very much supportive of involvement of these neurotransmitter systems. Moreover, intriguingly, genetic work on a two-generation pedigree has opened new research pointing to a role for histamine, a so far rather neglected neurotransmitter, with the potential of the development of new treatment options. Future studies should be aimed at directly linking neurotransmitter-related genetic and gene expression findings to imaging studies (imaging genetics), which enables a better understanding of the pathways and mechanisms through which the dynamic interplay of genes, brain, and environment shapes the TS phenotype. © 2013 Elsevier Inc. All rights reserved.
Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula

International Nuclear Information System (INIS)

Halefoglu, A.M.

2005-01-01

A pulmonary arteriovenous fistula is an abnormal connection between pulmonary arteries and veins. Patients with Rendu-Osler-Weber syndrome may present with this vascular malformation, which is a typical finding of the disease. Approximately 5-15% of Rendu-Osler-Weber syndrome patients have pulmonary arteriovenous malformations (AVM) and there is usually a family history of AVM in these patients. The malformations are usually located in the lower lobes. In this paper, I describe a 49-year-old male patient with dyspnoea, cough, haemoptysis and epistaxis. Physical examination showed nasal telangiectasias, cyanosis of the lips and nails, and a systolic bruit over the left lung. Chest X-ray revealed a 5-cm mass in the left lower lobe and after magnetic resonance examination, together with 3-D magnetic resonance angiography, it was demonstrated to be a pulmonary arteriovenous fistula. The history of a niece with a similar history of suspected pulmonary arteriovenous fistula led me to consider the possibility of Rendu-Osler-Weber syndrome presenting with a pulmonary arteriovenous fistula. Copyright (2005) Blackwell Science Pty Ltd
Transport of UF6 in compliance with TS-R-1

International Nuclear Information System (INIS)

Dekker, B.G.

2004-01-01

The IAEA Regulations TS-R-1 (ST-1, Revised) 1996 Edition include requirements for packages containing uranium hexafluoride (UF6); these are the first and only substance-specific requirements in the IAEA regulations. These requirements have already particularly affected, and will further affect, the transport of non-fissile and fissile excepted UF 6 and the packages used for these transports. Non-fissile and fissile excepted UF6 (ASTM C 787) has been transported worldwide for decades in a safe and reliable manner, using internationally standardised packages. Under the auspices of the World Nuclear Transport Institute (WNTI), an industry working group has been evaluating the existing packages against the requirements in TS-R-1. As new requirements came into effect, there were new challenges for the use of these standard packages, including the free drop test and the thermal requirements. In close cooperation with the WNTI HEXT Industry Working Group, a consortium of UF6 producers/users has worked together on the design and development, testing and certification of technical solutions for modification and optimisation of the existing packages to comply with TS-R-1. This paper reviews the existing standard packages against the requirements in TS-R-1. An update is also given describing the enhancements to the standard packages that have been designed and developed recently. The paper also describes how these solutions have been tested and certified, as well as the status of implementation. Finally, a review is made of the options that are available internationally to transport UF6 in compliance with TS-R-1. (author)

Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

Science.gov (United States)

Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

2015-11-01

To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.
Performance Monitoring in Medication-Naïve Children with Tourette Syndrome

DEFF Research Database (Denmark)

Eichele, Heike; Eichele, Tom; Bjelland, Ingvar

2016-01-01

BACKGROUND: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder and its impact on cognitive development needs further study. Evidence from neuropsychological, neuroimaging and electrophysiological studies suggests that the decline in tic severity and the ability to suppress tics...... relate to the development of self-regulatory functions in late childhood and adolescence. Hence, tasks measuring performance monitoring might provide insight into the regulation of tics in children with TS. METHOD: Twenty-five children with TS, including 14 with comorbid Attention-deficit/ hyperactivity...... disorder (ADHD), 39 children with ADHD and 35 typically developing children aged 8-12 years were tested with a modified Eriksen-Flanker task during a 34-channel electroencephalography (EEG) recording. Task performance, as well as stimulus-locked and response-locked event-related potentials (ERP) were...
Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome.

Science.gov (United States)

Franken, Romy; Teixido-Tura, Gisela; Brion, Maria; Forteza, Alberto; Rodriguez-Palomares, Jose; Gutierrez, Laura; Garcia Dorado, David; Pals, Gerard; Mulder, Barbara Jm; Evangelista, Artur

2017-11-01

The effect of FBN1 mutation type on the severity of cardiovascular manifestations in patients with Marfan syndrome (MFS) has been reported with disparity results. This study aims to determine the impact of the FBN1 mutation type on aortic diameters, aortic dilation rates and on cardiovascular events (ie, aortic dissection and cardiovascular mortality). MFS patients with a pathogenic FBN1 mutation followed at two specialised units were included. FBN1 mutations were classified as being dominant negative (DN; incorporation of non-mutated and mutated fibrillin-1 in the extracellular matrix) or having haploinsufficiency (HI; only incorporation of non-mutated fibrillin-1, thus a decreased amount of fibrillin-1 protein). Aortic diameters and the aortic dilation rate at the level of the aortic root, ascending aorta, arch, descending thoracic aorta and abdominal aorta by echocardiography and clinical endpoints comprising dissection and death were compared between HI and DN patients. Two hundred and ninety patients with MFS were included: 113 (39%) with an HI- FBN1 mutation and 177 (61%) with a DN- FBN1 . At baseline, patients with HI- FBN1 had a larger aortic root diameter than patients with DN- FBN1 (HI: 39.3±7.2 mm vs DN: 37.3±6.8 mm, p=0.022), with no differences in age or body surface area. After a mean follow-up of 4.9±2.0 years, aortic root and ascending dilation rates were increased in patients with HI- FBN1 (HI: 0.57±0.8 vs DN: 0.28±0.5 mm/year, p=0.004 and HI: 0.59±0.9 vs DN: 0.30±0.7 mm/year, p=0.032, respectively). Furthermore, patients with HI- FBN1 tended to be at increased risk for the combined endpoint of dissection and death compared with patients with DN- FBN1 (HR: 3.3, 95% CI 1.0 to 11.4, p=0.060). Patients with an HI mutation had a more severely affected aortic phenotype, with larger aortic root diameters and a more rapid dilation rate, and tended to have an increased risk of death and dissections compared with patients with a DN
Stigma in youth with Tourette's syndrome: a systematic review and synthesis.

Science.gov (United States)

Malli, Melina A; Forrester-Jones, Rachel; Murphy, Glynis

2016-02-01

Tourette's syndrome (TS) is a childhood onset neurodevelopmental disorder, characterised by tics. To our knowledge, no systematic reviews exist which focus on examining the body of literature on stigma in association with children and adolescents with TS. The aim of the article is to provide a review of the existing research on (1) social stigma in relation to children and adolescents with TS, (2) self-stigma and (3) courtesy stigma in family members of youth with TS. Three electronic databases were searched: PsycINFO, PubMed and Web of Science. Seventeen empirical studies met the inclusion criteria. In relation to social stigma in rating their own beliefs and behavioural intentions, youth who did not have TS showed an unfavourable attitude towards individuals with TS in comparison to typically developing peers. Meanwhile, in their own narratives about their lives, young people with TS themselves described some form of devaluation from others as a response to their disorder. Self-degrading comments were denoted in a number of studies in which the children pointed out stereotypical views that they had adopted about themselves. Finally, as regards courtesy stigma, parents expressed guilt in relation to their children's condition and social alienation as a result of the disorder. Surprisingly, however, there is not one study that focuses primarily on stigma in relation to TS and further studies that examine the subject from the perspective of both the 'stigmatiser' and the recipient of stigma are warranted.
Memory and executive functions in adults with Gilles de la Tourette syndrome and chronic tic disorder.

Science.gov (United States)

Lavoie, Marc E; Thibault, Geneviève; Stip, Emmanuel; O'Connor, Kieron P

2007-03-01

The main aim of the current study was to assess whether adults with either Tourette syndrome (TS) or chronic tic disorder (CTD) show a similar neuropsychological profile. Neuropsychological investigations of tic disorders have been mostly focused on children, mainly because symptoms peak during that period. Little has been carried out on adults, even if a significant proportion of the tic population experience moderate or marked levels of tic frequency throughout adulthood. Still, it is not clear whether neuropsychological performances are affected to the same degree in adults with TS and CTD. Patients diagnosed with TS were compared with a CTD group and a control group free of psychiatric or neurological diagnosis, comparable in terms of age, gender, and intelligence. All participants completed two tests of memory (Rey-Osterreich Complex Figure, California Verbal Learning Test), one test of motor dexterity (Purdue pegboard), and four tasks of executive function (Stroop, Color Trail Test, Tower of London, Wisconsin Card Sorting Test). TS and CTD patients showed nonverbal memory impairments while verbal memory and executive functioning remained intact. Results also indicated that nonverbal memory performances decrease as a function of tic severity. Both TS and CTD patients present a specific nonverbal deficit whilst the executive and motor functions are relatively intact. The two tic disorder subgroups might be part of a spectrum implicating mainly nonverbal memory.
Cogan's syndrome: present and future directions.

LENUS (Irish Health Repository)

Murphy, Grainne

2009-08-01

Cogan\\'s syndrome, typified by the combination of interstitial keratitis and immune-mediated sensorineural hearing loss, is a rare condition, and commonly associated with a diagnostic delay. Using a standard search protocol, we review the literature to date, focusing on a number of key areas pertaining to diagnosis, presentation and treatment. Using a case illustration of atypical disease which led to fulminant aortic regurgitation, we highlight the need for continued and collaborative research in order to identify negative prognostic factors and thus tailor therapeutic regimens. Atypical Cogan\\'s syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment. We discuss the application of laboratory (e.g antibodies targeting inner ear antigens) and radiological (PET-CT) aids to disease confirmation and detection of sub-clinical vascular inflammation. As illustrated by the included case description, some patients remain refractory to intense immunosuppression and delineation of adverse prognostic factors which may direct treatment, perhaps including the use of PET-CT, will contribute in the future to improving patient outcomes.
Metastatic neuroendocrine tumor with initial presentation of orbital apex syndrome

Directory of Open Access Journals (Sweden)

Yen-Yu Huang

2017-03-01

Full Text Available The possible etiologies of orbital apex syndrome range from inflammatory, infectious, neoplastic, iatrogenic/traumatic, to vascular processes. In patients without obvious infection or systemic cancer history, judicious use of corticosteroids is a reasonable strategy. We describe a 64-year-old man who presented with orbital apex syndrome and had progressed to total visual loss in three days after admission. Radiological imaging and pathological studies were consistent with a neuroendocrine tumor with multiple metastases. We recommend that a biopsy-proven specimen is warranted in patient with orbital apex syndrome even without a cancer history.
The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome.

Science.gov (United States)

Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioglu, Beray Selver; Alp, Hayrullah

2015-06-01

Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.
Utility of DN4 questionnaire in assessment of neuropathic pain and its clinical correlations in Turkish patients with diabetes mellitus.

Science.gov (United States)

Celik, S; Yenidunya, G; Temel, E; Purisa, S; Uzum, A Kubat; Gul, N; Cinkil, G; Dinccag, N; Satman, I

2016-08-01

We aimed to assess the utility of DN4 questionnaire (Douleur Neuropathique en 4 questions) to define the frequency and severity of neuropathic pain (NP) and also its clinical correlation to daily clinical practice. We included 1357 patients with diabetes (56.5% women, 90.4% type 2 diabetes) who were followed up in our diabetes outpatient clinic. Presence of NP was evaluated by performing simultaneous DN4 questionnaires and physical examination. Those who had a DN4 score ≥4 were considered to have NP. The mean age was 58.2±12.1 years, mean duration was 12.5±7.5; (min-max: 1-45) years, mean HbA1c level was 7.8±1.6% (min-max: 5-16.2%), (61.7±6.0mmol/mol; min-max: 31.1-153.6mmol/mol). Three hundred thirteen patients (23%) were diagnosed with NP using the DN4 tool. Male gender (p=0.01), receiving antihypertensive treatment (p=0.01), presence of retinopathy (pdiabetes duration (pdiabetes duration (OR: 1.02, 95% CI: 1.00-1.04, p=0.007), elevated HbA1c levels (1.11, 1.02-1.21, 0.015), presence of retinopathy (1.41, 1.20-1.64, diet only-regimens) were significantly associated with NP. Utilization of DN4 questionnaire in daily clinical practice is an effective tool in the identification of pain related with peripheral diabetic polyneuropathy. Copyright © 2015 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.
Numb chin syndrome as a primary presentation of metastatic breast cancer

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Jasjot Sahni

2017-01-01

Full Text Available Numb chin syndrome (NCS is characterized by facial neuropathy along the distribution of the mental branch of the trigeminal nerve. We report a case of NCS in a 65 year old woman who initially presented to her dentist with nonspecific symptoms that she thought were related to a tooth infection. The patient was otherwise healthy and her medical history was significant for breast cancer treated 20 years prior; her cancer was thought to be in complete remission. Upon clinical examination and conventional dental radiography, no pathology was seen such as odontogenic, periodontal, or jawbone infection. Only paresthesia and hypoesthesia was noted unilaterally in her left chin, jaw and lower lip. A computed tomography scan was obtained for further evaluation and revealed lytic metastatic disease involving the right mandible at the level of the mandibular foramen; lytic lesions of the thoracic vertebrae and multiple pulmonary nodules were also noted. Oncologic referral was made immediately which confirmed a diagnosis of metastatic breast cancer. Familiarity with NCS is important for oral health care providers in order to identify etiology and differential diagnosis, as well as to provide appropriate referral and management.
Tourette Syndrome and Consciousness of Action

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Andrea E. Cavanna

2013-09-01

Full Text Available Background: Tourette syndrome (TS is a neuropsychiatric disorder characterized by the chronic presence of multiple motor tics and at least one vocal/phonic tic since childhood. Tics typically change and vary in both intensity and severity over time, with remission and exacerbation common. In the vast majority of patients, tic expression is characteristically accompanied by discomforting bodily sensations, known as sensory phenomena or premonitory urges.Methods: We reviewed the existing literature on premonitory urges associated with the sense of voluntariness of action in TS.Results: Although the wish to move is perceived by the patient as involuntary, the decision to release the tic is often perceived by the patient as a voluntary capitulation to the subjective urge. Most patients with TS can exert a degree of control over the urge and constantly try to inhibit the movement. Based on these features, it has been suggested that tics performed in response to an urge to move should be classified as ‘unvoluntary’, as opposed to voluntary or involuntary acts. However, recent experimental data suggest that the brain areas involved in the generation of the wish to act show considerable overlap between healthy subjects and patients with TS.Discussion: The simultaneous presence of both voluntary and involuntary aspects in the expression of tic symptoms by patients with TS is consistent with the hypothesis that tics can have the same neurophysiologic substrate as voluntary acts, even though they are misperceived as being involuntary. This reinforces the view of TS as a hyperkinetic movement disorder primarily affecting the conscious experience of action.
Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette Syndrome.

Science.gov (United States)

Nagai, Yoko

2015-01-01

This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of epileptic seizures is largely overlooked. Emotional stimuli such as anxiety and stress are potent causes of seizures and tic activity in epilepsy and TS, respectively. This manuscript will describe a possible neural mechanism by which afferent autonomic projections linked to cognition and behavior influence central thalamo-cortical regulation, which appears to be an important means for controlling both seizure and tic activity. It also summarizes the link between the integrity of the default mode network and autonomic regulation in patients with epilepsy as well as the link between impaired motor control and autonomic regulation in patients with TS. Two neurological conditions; epilepsy and TS were chosen, as seizures and tics represent parameters that can be easily measured to investigate influences of autonomic functions. The EDA biofeedback approach is anticipated to gain a strong position within the next generation of treatment for epilepsy, as a non-invasive technique with minimal side effects. This approach also takes advantage of the current practical opportunity to utilize growing digital health technology.
Unusual presentation of prune belly syndrome: a case report.

Science.gov (United States)

Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

2017-12-04

Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia. A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter. bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty. In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune
Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

Science.gov (United States)

Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

2017-06-01

There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.
Bardet-biedl syndrome presenting with end stage renal failure

International Nuclear Information System (INIS)

Ansari, R.M.; Junejo, A. M.

2006-01-01

A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)
Tourette Syndrome and Associated Features and the School Aged Child.

Science.gov (United States)

Willis, Christopher

Tourette Syndrome (TS) is described as a genetically based, chronic constellation of neurobehavioral symptoms and associated features involving repetitive, simple, and/or complex motor and phonic tics. Treatment generally involves neuroleptic medication. Symptoms of obsessive-compulsive disorder, attention deficit hyperactive disorder, learning…
Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

Science.gov (United States)

Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

2014-06-01

To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

Science.gov (United States)

Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.
Increased thalamic gamma band activity correlates with symptom relief following deep brain stimulation in humans with Tourette's syndrome.

Directory of Open Access Journals (Sweden)

Nicholas Maling

Full Text Available Tourette syndrome (TS is an idiopathic, childhood-onset neuropsychiatric disorder, which is marked by persistent multiple motor and phonic tics. The disorder is highly disruptive and in some cases completely debilitating. For those with severe, treatment-refractory TS, deep brain stimulation (DBS has emerged as a possible option, although its mechanism of action is not fully understood. We performed a longitudinal study of the effects of DBS on TS symptomatology while concomitantly examining neurophysiological dynamics. We present the first report of the clinical correlation between the presence of gamma band activity and decreased tic severity. Local field potential recordings from five subjects implanted in the centromedian nucleus (CM of the thalamus revealed a temporal correlation between the power of gamma band activity and the clinical metrics of symptomatology as measured by the Yale Global Tic Severity Scale and the Modified Rush Tic Rating Scale. Additional studies utilizing short-term stimulation also produced increases in gamma power. Our results suggest that modulation of gamma band activity in both long-term and short-term DBS of the CM is a key factor in mitigating the pathophysiology associated with TS.
Oxandrolone in growth hormone-treated girls with Turner syndrome

NARCIS (Netherlands)

Menke, Leonie Alexandra

2010-01-01

Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

Science.gov (United States)

Huang, Alden Y; Yu, Dongmei; Davis, Lea K; Sul, Jae Hoon; Tsetsos, Fotis; Ramensky, Vasily; Zelaya, Ivette; Ramos, Eliana Marisa; Osiecki, Lisa; Chen, Jason A; McGrath, Lauren M; Illmann, Cornelia; Sandor, Paul; Barr, Cathy L; Grados, Marco; Singer, Harvey S; Nöthen, Markus M; Hebebrand, Johannes; King, Robert A; Dion, Yves; Rouleau, Guy; Budman, Cathy L; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Müller-Vahl, Kirsten R; Stuhrmann, Manfred; Aschauer, Harald; Stamenkovic, Mara; Schloegelhofer, Monika; Konstantinidis, Anastasios; Lyon, Gholson J; McMahon, William M; Barta, Csaba; Tarnok, Zsanett; Nagy, Peter; Batterson, James R; Rizzo, Renata; Cath, Danielle C; Wolanczyk, Tomasz; Berlin, Cheston; Malaty, Irene A; Okun, Michael S; Woods, Douglas W; Rees, Elliott; Pato, Carlos N; Pato, Michele T; Knowles, James A; Posthuma, Danielle; Pauls, David L; Cox, Nancy J; Neale, Benjamin M; Freimer, Nelson B; Paschou, Peristera; Mathews, Carol A; Scharf, Jeremiah M; Coppola, Giovanni

2017-06-21

Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare ( 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 × 10 -3 ) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 × 10 -5 ). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS. Copyright © 2017 Elsevier Inc. All rights reserved.
Counterfactual thinking in Tourette's syndrome: a study using three measures.

Science.gov (United States)

Zago, Stefano; Delli Ponti, Adriana; Mastroianni, Silvia; Solca, Federica; Tomasini, Emanuele; Poletti, Barbara; Inglese, Silvia; Sartori, Giuseppe; Porta, Mauro

2014-01-01

Pathophysiological evidence suggests an involvement of frontostriatal circuits in Tourette syndrome (TS) and cognitive abnormalities have been detected in tasks sensitive to cognitive deficits associated with prefrontal damage (verbal fluency, planning, attention shifting, working memory, cognitive flexibility, and social reasoning). A disorder in counterfactual thinking (CFT), a behavioural executive process linked to the prefrontal cortex functioning, has not been investigated in TS. CFT refers to the generation of a mental simulation of alternatives to past factual events, actions, and outcomes. It is a pervasive cognitive feature in everyday life and it is closely related to decision-making, planning, problem-solving, and experience-driven learning-cognitive processes that involve wide neuronal networks in which prefrontal lobes play a fundamental role. Clinical observations in patients with focal prefrontal lobe damage or with neurological and psychiatric diseases related to frontal lobe dysfunction (e.g., Parkinson's disease, Huntington's disease, and schizophrenia) show counterfactual thinking impairments. In this work, we evaluate the performance of CFT in a group of patients with Tourette's syndrome compared with a group of healthy participants. Overall results showed no statistical differences in counterfactual thinking between TS patients and controls in the three counterfactual measures proposed. The possible explanations of this unexpected result are discussed below.
Kunstisuvi 1999 / Sirje Eelma, Rait Prääts

Index Scriptorium Estoniae

Eelma, Sirje, 1950-

1999-01-01

12. juunist näitus "Rahvusvaheline väikegraafika ja eesti väikeskulptuur" Kuressaare Raegaleriis. Koostajad ja kujundajad Sirje Eelma, Terje Ojaver. 19. juunist Haapsalu Linnagaleriis ja lisaruumides väljapanek "Motiiv". Koostajad Agur Kruusing, Sirje Eelma, Rait Prääts, kujundaja Agur Kruusing. Pärnu Linnagaleriis näitus "Minimaal". Koostaja ja kujundaja Rait Prääts. Muuseumiaidas eesti noorema kunsti väljapanek "Voolab". Koostaja Karol Kallas. Juuli lõpul Selgase dolomiidipäevad Kuressaares. Pärast põhinäituste lõppemist valiknäitus Paide Vallitornis
Life events and Tourette syndrome.

Science.gov (United States)

Steinberg, Tamar; Shmuel-Baruch, Sharona; Horesh, Netta; Apter, Alan

2013-07-01

Tourette syndrome (TS) is a neuropsychiatric developmental disorder characterized by the presence of multiple motor tics and one or more vocal tics. Although TS is primarily biological in origin, stress-diatheses interactions most probably play a role in the course of the illness. The precise influence of the environment on this basically biological disorder is difficult to ascertain, particularly when TS is complicated by comorbidities. Among the many questions that remain unresolved are the differential impact of positive and negative events and specific subtypes of events, and the importance of major crucial events relative to minor daily ones to tic severity. To examine the relationships between life events, tic severity and comorbid disorders in Tourette Syndrome (TS), including OCD, ADHD, anxiety, depression and rage attacks. Life events were classified by quantity, quality (positive or negative) and classification types of events (family, friends etc.). Sixty patients aged 7-17 years with Tourette syndrome or a chronic tic disorder were recruited from Psychological Medicine Clinic in Schneider Children's Medical Center of Israel. Yale Global Tic Severity Scale; Children's Yale Brown Obsessive Compulsive Scale; Life Experiences Survey; Brief Adolescent Life Events Scale; Screen for Child Anxiety Related Emotional Disorders; Child Depression Inventory/Beck Depression Inventory; ADHD Rating Scale IV; Overt Aggression Scale. Regarding tics and minor life events, there was a weak but significant correlation between severity of motor tics and the quantity of negative events. No significant correlation was found between tic severity and quantity of positive events. Analysis of the BALES categories yielded a significant direct correlation between severity of vocal tics and quantity of negative events involving friends. Regarding comorbidities and minor life events, highly significant correlations were found with depression and anxiety. Regarding tics and major life
Sleep disturbances and autonomic dysfunction in patients with postural orthostatic tachycardia syndrome

Directory of Open Access Journals (Sweden)

Julia eMallien

2014-07-01

Full Text Available Many patients with Postural Tachycardia Syndrome (PoTS suffer from fatigue, daytime sleepiness and sleeping disturbances. The objective of this study was to compare subjective and objective sleep quality of PoTS patients with a group of healthy controls. All Patients completed a Pittsburgh Sleep Quality Index questionnaire and the Epworth Sleepiness Scale. The patients sleep architecture, heart rate and heart rate variability measurements were taken during one night at the sleep laboratorium. All Data was collected at the Sleep Unit, at Helios Klinikum Wuppertal. 38 patients diagnosed with PoTS were compared to 31 healthy controls, matched in age and gender. Patients with PoTS reached significantly higher scores in sleep questionnaires, which means that they were more sleepy and had a lower sleep qualitiy. Polysomnography showed a significantly higher proportion of stage 2 sleep. The results of heart rate variability analysis in different sleep stages confirmed changes in autonomic activity in both groups. PoTS patients, however, showed a diminished variability of the LF band, HF band and LF/HF ratio in different sleep stages. It can therefore be gathererd that PoTS could be considered as potential differential diagnosis for sleep disturbances since PoTS patients had a subjective diminished sleep quality, reached higher levels of daytime sleepiness and showed a higher proportion of stage 2 sleep. PoTS patients showed furthermore a reduction of LF/HF ratio variability in different sleep stages.
Premonitory urges for tics in adult patients with Tourette syndrome.

Science.gov (United States)

Crossley, Eleanor; Seri, Stefano; Stern, Jeremy S; Robertson, Mary M; Cavanna, Andrea E

2014-01-01

Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge for Tics Scale (PUTS, Woods et al., 2005 [13])-for the assessment of PUs in adult patients with TS. Standard statistical methods were applied to test the psychometric properties of the PUTS in 102 adult TS outpatients recruited from two specialist clinics in the United Kingdom. The PUTS showed good acceptability and endorsement rates, with evenly distributed scores and low floor and ceiling effects. Item-total correlations were moderate to strong; PUTS total scores were significantly correlated with quantitative measures of TS severity. The PUTS showed excellent internal consistency reliability (Cronbach's alpha=0.85) and Spearman's correlations demonstrated satisfactory convergent and discriminant validity. Although originally devised to assess urges to tic in young patients with TS, the PUTS demonstrated good psychometric properties in a large sample of adults recruited at specialist TS clinics. This instrument is therefore recommended for use across the life span as a valid and reliable self-report measure of sensory experiences accompanying tic expression. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
BlendCAC: A BLockchain-ENabled Decentralized Capability-based Access Control for IoTs

OpenAIRE

Xu, Ronghua; Chen, Yu; Blasch, Erik; Chen, Genshe

2018-01-01

The prevalence of Internet of Things (IoTs) allows heterogeneous embedded smart devices to collaboratively provide smart services with or without human intervention. While leveraging the large scale IoT based applications like Smart Gird or Smart Cities, IoTs also incur more concerns on privacy and security. Among the top security challenges that IoTs face, access authorization is critical in resource sharing and information protection. One of the weaknesses in today's access control (AC) is ...
A Federated Capability-based Access Control Mechanism for Internet of Things (IoTs)

OpenAIRE

Xu, Ronghua; Chen, Yu; Blasch, Erik; Chen, Genshe

2018-01-01

The prevalence of Internet of Things (IoTs) allows heterogeneous embedded smart devices to collaboratively provide intelligent services with or without human intervention. While leveraging the large-scale IoT-based applications like Smart Gird and Smart Cities, IoT also incurs more concerns on privacy and security. Among the top security challenges that IoTs face is that access authorization is critical in resource and information protection over IoTs. Traditional access control approaches, l...
Tourette syndrome and comorbid ADHD: causes and consequences.

Science.gov (United States)

El Malhany, N; Gulisano, M; Rizzo, R; Curatolo, P

2015-03-01

Attention deficit hyperactivity disorder (ADHD) is the most common comorbid condition in patients with Tourette syndrome (TS). The co-occurrence of ADHD and TS is in most cases associated with a higher social and psychopathological impairment. Comorbidity between Tourette and ADHD appears to have a complex and partially known pathogenesis in which genetic, environmental, and neurobiological factors can be implicated. Genetic studies have revealed an involvement of dopaminergic, catecholaminergic, and GABAergic genes that modulated the activity of neurotransmitters. Furthermore, there are a lot of networks implicated in the development of ADHD and TS, involving cortical and striatal areas and basal ganglia. Although a large number of studies tried to find a common pathogenesis, the complex pathways responsible are not clear. The genes implicated in both disorders are currently unidentified, but it is probable that epigenetic factors associated with neural modifications can represent a substrate for the development of the diseases. In this paper, recent advances in neurobiology of ADHD and TS are reviewed, providing a basis for understanding the complex common pathogenesis underlying the frequent co-occurrence of the two conditions and the therapeutic choices.
Churg-Strauss syndrome presenting with conjunctival and eyelid masses: a case report.

Science.gov (United States)

Ameli, F; Phang, K S; Masir, N

2011-12-01

Churg-Strauss syndrome, a small and medium vessel vasculitis, was first described by Churg and Strauss in 1951. It is characterised by the presence of asthma, prominent tissue and blood eosinophilia, systemic vasculitis, and pulmonary and systemic necrotising allergic granulomas. Involvement of the skin, heart and gastrointestinal tract is well documented, but ocular presentation is unusual. We describe a 40-year-old lady who presented with recurrent upper eyelid swelling due to conjunctival lesions. Although she has chronic asthma, Churg-Strauss syndrome was never suspected. The diagnosis of Churg-Strauss syndrome was only made following histological examination of the conjunctival lesions.
Lifetime Prevalence, Age of Risk, and Etiology of Comorbid Psychiatric Disorders in Tourette Syndrome

Science.gov (United States)

Hirschtritt, Matthew E.; Lee, Paul C.; Pauls, David L.; Dion, Yves; Grados, Marco A.; Illmann, Cornelia; King, Robert A.; Sandor, Paul; McMahon, William M.; Lyon, Gholson J.; Cath, Danielle C.; Kurlan, Roger; Robertson, Mary M.; Osiecki, Lisa; Scharf, Jeremiah M.; Mathews, Carol A.

2015-01-01

Importance Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (Tourette syndrome was associated with increased risk of anxiety (odds ratio [OR], 1.4; 95% CI, 1.0–1.9; P = .04) and decreased risk of substance use disorders (OR, 0.6; 95% CI, 0.3–0.9; P = .02) independent from comorbid OCD and ADHD; however, high rates of mood disorders among participants with TS (29.8%) may be accounted for by comorbid OCD (OR, 3.7; 95% CI, 2.9–4.8; P < .001). Parental history of ADHD was associated with a higher burden of non-OCD, non-ADHD comorbid psychiatric disorders (OR, 1.86; 95% CI, 1.32–2.61; P < .001). Genetic correlations between TS and mood (RhoG, 0.47), anxiety (RhoG, 0.35), and disruptive behavior disorders (RhoG, 0.48), may be accounted for by ADHD and, for mood disorders, by OCD. Conclusions and Relevance This study is, to our knowledge, the most comprehensive of its kind. It confirms the belief that psychiatric comorbidities are common among individuals with TS, demonstrates that most comorbidities begin early in life, and indicates that certain comorbidities may be mediated by the presence of comorbid OCD or ADHD. In addition, genetic analyses suggest that some comorbidities may be more biologically related to OCD and/or ADHD rather than to TS. PMID:25671412
The genetic basis of long QT and short QT syndromes: a mutation update

DEFF Research Database (Denmark)

Hedley, Paula L; Jørgensen, Poul; Schlamowitz, Sarah

2009-01-01

Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization abnormalities that are characterized by length perturbations of the QT interval as measured on electrocardiogram (ECG). Prolonged QT interval and a propensity for ventricular tachycardia of the torsades de pointes (TdP) type......-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). The genetics are further complicated by the occurrence of double and triple heterozygotes in LQTS and a considerable number of nonpathogenic rare polymorphisms in the involved genes. SQTS is a very rare condition, caused by mutations...
Pharmacological treatment of tic disorders and Tourette Syndrome.

Science.gov (United States)

Roessner, Veit; Schoenefeld, Katja; Buse, Judith; Bender, Stephan; Ehrlich, Stefan; Münchau, Alexander

2013-05-01

The present review gives an overview of current pharmacological treatment options of tic disorders and Tourette Syndrome (TS). After a short summary on phenomenology, clinical course and comorbid conditions we review indications for pharmacological treatment in detail. Unfortunately, standardized and large enough drug trials in TS patients fulfilling evidence based medicine standards are still scarce. Treatment decisions are often guided by individual needs and personal experience of treating clinicians. The present recommendations for pharmacological tic treatment are therefore based on both scientific evidence and expert opinion. As first-line treatment of tics risperidone (best evidence level for atypical antipsychotics) or tiapride (largest clinical experience in Europe and low rate of adverse reactions) are recommended. Aripiprazole (still limited but promising data with low risk for adverse reactions) and pimozide (best evidence of the typical antipsychotics) are agents of second choice. In TS patients with comorbid attention deficit hyperactivity disorder (ADHD) atomoxetine, stimulants or clonidine should be considered, or, if tics are severe, a combination of stimulants and risperidone. When mild to moderate tics are associated with obsessive-compulsive symptoms, depression or anxiety sulpiride monotherapy can be helpful. In more severe cases the combination of risperidone and a selective serotonin reuptake inhibitor should be given. In summary, further studies, particularly randomized, double-blind, placebo-controlled trials including larger and/or more homogenous patient groups over longer periods are urgently needed to enhance the scientific basis for drug treatment in tic disorders. This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. Copyright © 2012 Elsevier Ltd. All rights reserved.
Catecholamine-related gene expression in blood correlates with tic severity in tourette syndrome.

Science.gov (United States)

Gunther, Joan; Tian, Yingfang; Stamova, Boryana; Lit, Lisa; Corbett, Blythe; Ander, Brad; Zhan, Xinhua; Jickling, Glen; Bos-Veneman, Netty; Liu, Da; Hoekstra, Pieter; Sharp, Frank

2012-12-30

Tourette syndrome (TS) is a heritable disorder characterized by tics that are decreased in some patients by treatment with alpha adrenergic agonists and dopamine receptor blockers. Thus, this study examines the relationship between catecholamine gene expression in blood and tic severity. TS diagnosis was confirmed using Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV criteria and tic severity measured using the Yale Global Tic Severity Scale (YGTSS) for 26 un-medicated subjects with TS. Whole blood was collected and Ribonucleic acid (RNA) processed on Affymetrix Human Exon 1.0 ST arrays. An Analysis of Covariance (ANCOVA) identified 3627 genes correlated with tic severity (pdisorders, Attention Deficit Hyperactivity Disorder (ADHD), and Obsessive-Compulsive Disorder (OCD). Correlation of gene expression in peripheral blood with tic severity may allow inferences about catecholamine pathway dysfunction in TS subjects. Findings built on previous work suggest that at least some genes expressed peripherally are relevant for central nervous system (CNS) pathology in the brain of individuals with TS. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
Measurement of the CKM matrix element |V_ts|²

CERN Document Server

Unverdorben, Christopher Gerhard

This is the first direct measurement of the CKM matrix element |V_ts|, using data collected by the ATLAS detector in 2012 at √s=8 TeV pp-collisions with a total integrated luminosity of 20.3 fb⁻¹. The analysis is based on 112171 reconstructed tt̅ candidate events in the lepton+jets channel, having a purity of 90.0 %. 183 tt̅→WWbs̅ decays are expected (charge conjugation implied), which are available for the extraction of the CKM matrix element |V_ts|². To identify these rare decays, several observables are examined, such as the properties of jets, tracks and of b-quark identification algorithms. Furthermore, the s-quark hadrons K0s are considered, reconstructed by a kinematic fit. The best observables are combined in a multivariate analysis, called "boosted decision trees". The responses from Monte Carlo simulations are used as templates for a fit to data events yielding a significance value of 0.7σ for t→s+W decays. An upper limit of |V_ts|² < 1.74 % at 95 % confidence level is set, includi...
Normalization of height in girls with Turner syndrome after long-term growth hormone treatment : Results of a randomized dose-response trial

NARCIS (Netherlands)

Sas, TCJ; Keizer-Schrama, SMPFD; Stijnen, T; Jansen, M; Otten, BJ; Hoorweg-Nijman, JJG; Vulsma, T; Massa, GG; Rouwe, CW; Reeser, HM; Gerver, WJ; Gosen, JJ; Rongen-Westerlaken, C; Drop, SLS

1999-01-01

Short stature and ovarian failure are the main features in Turner syndrome (TS). To optimize GH and estrogen treatment, we studied 68 previously untreated girls with TS, age 2-11 yr, who were randomly assigned to one of three GH dosage groups: group A, 4 IU/m(2).day (approximate to 0.045 mg/kg.day);
Down syndrome and moyamoya: clinical presentation and surgical management.

Science.gov (United States)

See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

2015-07-01

OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient
Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

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Al-Otaibi Faisal

2012-05-01

Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.
Advanced high temperature superconductor film-based process using RABiTS

International Nuclear Information System (INIS)

Goyal, A.; Hawsey, R.A.; Hack, J.; Moon, D.

2000-01-01

The purpose of this Cooperative Research and Development Agreement (CRADA) between Lockheed Martin Energy Research Corporation (Contractor), Managing contractor for Oak Ridge National Laboratory (ORNL) and Midwest Superconductivity, Inc. (MSI) and Westinghouse Science and Electric Company (WEC) was to develop the basis for a commercial process for the manufacturing of superconducting tape based on the RABiTS technology developed at ORNL. The chosen method for deposition of YBCO films on RABiTS was Metal Organic chemical Vapor Deposition (MOCVD)
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

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Christian Trolle

Full Text Available QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc over time and relate the findings to the Turner syndrome phenotype.Adult women with Turner syndrome (n = 88 were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%, and adjusted for influence of heart rate by Bazett's (bQTc and Hodges's formula (hQTc. The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms. Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms compared to controls (390.4 ± 17.8 ms was prolonged (p432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2 and one in a minor Long QT syndrome gene (KCNE2.There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women.NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

A RETROSPECTIVE STUDY ON CLINICAL PRESENTATION OF STEROID SENSITIVE NEPHROTIC SYNDROME

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Sosamma M. M

2016-09-01

Full Text Available BACKGROUND Nephrotic syndrome is a disease affecting the renal system. Most paediatricians will invariably encounter children with nephrotic syndrome in their clinic. The disease is characterised by the presence of oedema, persistent heavy proteinuria, hypoproteinaemia and hypercholesterolaemia. The disease is influenced by factors like age, geography, race and also has certain genetic influence related to HLA (DR7, B12, B8. In children, minimal change nephrotic syndrome is the most common variant of primary nephrotic syndrome. It accounts to more than eighty per cent of the cases seen children under seven years whereas it has a chance of fifty per cent in the age group of seven to sixteen years. Males are affected two times higher compared to females. The parents usually bring the child to the hospital with signs of oedema. Usually, the child recovers with treatment, but in some cases, there can be relapse. MATERIALS AND METHODS  The study was conducted in the Department of Paediatrics, Travancore Medical College, Kollam.  The study was done from January 2015 to January 2016.  Sixty cases were identified and were chosen for the study. INCLUSION CRITERIA 1. Steroid sensitive cases of nephrotic syndrome. 2. Age less than twelve years. 3. Admitted cases. EXCLUSION CRITERIA 1. Steroid-resistant and steroid-dependent cases. 2. Age more than twelve years. 3. Outpatient cases. RESULTS Out of the sixty cases studied, forty one cases belonged to male sex and nineteen cases belonged to female sex. Based on the age group, maximum number of cases belonged to age group four to eight years, which amounted to thirty four cases followed by age group eight to twelve years, which amounted to eighteen cases. Age group zero to four years had the least number of cases, which amounted to eight in number. Based on clinical signs and symptoms, fifty five cases presented with oedema either periorbital, scrotal or pedal oedema. Ten cases presented with fever
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

Science.gov (United States)

Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

2013-01-01

QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (pTurner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.
Creativity Assessment in Subjects with Tourette Syndrome vs. Patients with Parkinson’s Disease: A Preliminary Study

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Carlotta Zanaboni Dina

2017-07-01

Full Text Available (1 Background: Literature suggests that high levels of dopamine are associated with creative thoughts. Tourette Syndrome (TS patients have high dopamine levels, while Parkinson’s Disease (PD subjects have low dopamine levels. Consequently, TS individuals are supposed to have a major and PD patients less creative output. Moreover, dopamine medications may alter the level of creativity, and therefore Quality of Life, in both pathologies. (2 Methods: The aim of the study was to verify the hypothesis of TS patients having higher creative scores than PD patients. The assessment consisted of the administration of the Creative Thinking ASK Test. There were 54 participants—36 males and 18 females—i.e., 27 TS patients and 27 PD subjects. Age of the sample was 35 to 57 years old, high school certificate was required. (3 Results: TS sample (103.11 ASK average score was more creative than PD sample (94.11 ASK average score. (4 Conclusions: The results supported the aforementioned hypothesis: TS sample resulted in having higher creative scores than PD sample. Dopamine and other neurotransmitters of TS and PS appear to affect subject’s creativity. Further studies with creative assessments in TS and PD patients are needed to support the preliminary results of our study.
Deep-HiTS: Rotation Invariant Convolutional Neural Network for Transient Detection

Science.gov (United States)

Cabrera-Vives, Guillermo; Reyes, Ignacio; Förster, Francisco; Estévez, Pablo A.; Maureira, Juan-Carlos

2017-02-01

We introduce Deep-HiTS, a rotation-invariant convolutional neural network (CNN) model for classifying images of transient candidates into artifacts or real sources for the High cadence Transient Survey (HiTS). CNNs have the advantage of learning the features automatically from the data while achieving high performance. We compare our CNN model against a feature engineering approach using random forests (RFs). We show that our CNN significantly outperforms the RF model, reducing the error by almost half. Furthermore, for a fixed number of approximately 2000 allowed false transient candidates per night, we are able to reduce the misclassified real transients by approximately one-fifth. To the best of our knowledge, this is the first time CNNs have been used to detect astronomical transient events. Our approach will be very useful when processing images from next generation instruments such as the Large Synoptic Survey Telescope. We have made all our code and data available to the community for the sake of allowing further developments and comparisons at https://github.com/guille-c/Deep-HiTS. Deep-HiTS is licensed under the terms of the GNU General Public License v3.0.
Face and emotion recognition deficits in Turner syndrome: a possible role for X-linked genes in amygdala development.

Science.gov (United States)

Lawrence, Kate; Kuntsi, Jonna; Coleman, Michael; Campbell, Ruth; Skuse, David

2003-01-01

Face recognition is thought to rely on configural visual processing. Where face recognition impairments have been identified, qualitatively delayed or anomalous configural processing has also been found. A group of women with Turner syndrome (TS) with monosomy for a single maternal X chromosome (45, Xm) showed an impairment in face recognition skills compared with normally developing women. However, normal configural face-processing abilities were apparent. The ability to recognize facial expressions of emotion, particularly fear, was also impaired in this TS subgroup. Face recognition and fear recognition accuracy were significantly correlated in the female control group but not in women with TS. The authors therefore suggest that anomalies in amygdala function may be a neurological feature of TS of this karyotype.
Rational quantum integrable systems of DN type with polarized spin reversal operators

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B. Basu-Mallick

2015-09-01

Full Text Available We study the spin Calogero model of DN type with polarized spin reversal operators, as well as its associated spin chain of Haldane–Shastry type, both in the antiferromagnetic and ferromagnetic cases. We compute the spectrum and the partition function of the former model in closed form, from which we derive an exact formula for the chain's partition function in terms of products of partition functions of Polychronakos–Frahm spin chains of type A. Using a recursion relation for the latter partition functions that we derive in the paper, we are able to numerically evaluate the partition function, and thus the spectrum, of the DN-type spin chain for relatively high values of the number of spins N. We analyze several global properties of the chain's spectrum, such as the asymptotic level density, the distribution of consecutive spacings of the unfolded spectrum, and the average degeneracy. In particular, our results suggest that this chain is invariant under a suitable Yangian group, and that its spectrum coincides with that of a Yangian-invariant vertex model with linear energy function and dispersion relation.
Counterfactual Thinking in Tourette’s Syndrome: A Study Using Three Measures

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Stefano Zago

2014-01-01

Full Text Available Pathophysiological evidence suggests an involvement of frontostriatal circuits in Tourette syndrome (TS and cognitive abnormalities have been detected in tasks sensitive to cognitive deficits associated with prefrontal damage (verbal fluency, planning, attention shifting, working memory, cognitive flexibility, and social reasoning. A disorder in counterfactual thinking (CFT, a behavioural executive process linked to the prefrontal cortex functioning, has not been investigated in TS. CFT refers to the generation of a mental simulation of alternatives to past factual events, actions, and outcomes. It is a pervasive cognitive feature in everyday life and it is closely related to decision-making, planning, problem-solving, and experience-driven learning—cognitive processes that involve wide neuronal networks in which prefrontal lobes play a fundamental role. Clinical observations in patients with focal prefrontal lobe damage or with neurological and psychiatric diseases related to frontal lobe dysfunction (e.g., Parkinson’s disease, Huntington’s disease, and schizophrenia show counterfactual thinking impairments. In this work, we evaluate the performance of CFT in a group of patients with Tourette’s syndrome compared with a group of healthy participants. Overall results showed no statistical differences in counterfactual thinking between TS patients and controls in the three counterfactual measures proposed. The possible explanations of this unexpected result are discussed below.
A novel concurrent chemoradiotherapy with TS-1/nedaplatin for esophageal cancer showing better quality of life durning treatment

International Nuclear Information System (INIS)

Miyazaki, Aya; Inaba, Hiroyuki; Tsuda, Takashi; Itoh, Fumio

2005-01-01

Concurrent chemoradiotherapy (CRT) for esophageal cancer is expected to achieve adequate quality of life (QOL) and to improve the survival of patients. As a QOL-oriented therapy for esophageal cancer, concurrent CRT with tegafur·gimestat·otastat potassium (TS-1)/nedaplatin (CDGP) was developed and evaluated. Between June 2001 and September 2002, 18 patients with esophageal cancer were enrolled in a clinical study of concurrent CRT with TS-1/CDGP. To evaluate the impact of treatment on the QOL, the patients were asked to answer QOL Questionnaire for Cancer Patients Treated with Anticancer Drugs (QOL-ACD) before and after therapy. The response rate was 66.7%, with a complete response occurring in 9 (50.0%) of the 18 patients. Patients with improved global, functional, or mental QOL after therapy showed or tended to show a significant, longer survival. Compared to patients previously treated by the same regimen with 5-fluorouracil (5-FU) instead of TS-1, those receiving the present therapy were able to leave hospital more frequently during treatment. TS-1/CDGP-based CRT for esophageal cancer exhibited comparable antitumor activity and survival benefit as with standard 5-FU/cisplatin (CDDP)-based CRT without causing serious side-effects. The patients receiving the present therapy seemed to have a better chance of maintaining their QOL. (author)
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Science.gov (United States)

Chung, Brian Hon-Yin; Lam, Stephen Tak-Sum; Tong, Tony Ming-For; Li, Susanna Yuk-Han; Lun, Kin-Shing; Chan, Daniel Hon-Chuen; Fok, Susanna Fung-Shan; Or, June Siu-Fong; Smith, David Keith; Yang, Wanling; Lau, Yu-Lung

2009-07-01

Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel. In the remaining 41 probands, six were identified to have novel TGFBR2 mutations (one frameshift and five missense mutations). All novel mutations found in this study were confirmed to be absent in 50 unrelated normal individuals of the same ethnic background. In probands who fulfilled the Ghent criteria (n = 16), mutations in FBN1 were found in 81% of cases. None of those with TGFBR2 mutations fulfilled the Ghent criteria. Novel missense mutations of unknown significance were classified according to the latest ACMG guidelines and their likelihood to be causative was evaluated.
Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette syndrome

OpenAIRE

Yoko eNagai

2015-01-01

This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of e...
A whole-brain gray and white matter analysis in children with 45XO karyotype Turner syndrome: voxel-based morphometry

International Nuclear Information System (INIS)

Zhao Qiuling; Zhang Zhixin; Cheng Pangui; Xie Sheng; Liu Xiwei; Pan Hui; Li Kang; Zhang Jiaying; Gong Gaolang

2013-01-01

Objective: To detect the structural changes of cerebral gray and white matter in children of monosomy Turner syndrome (TS) by using voxel-based morphometry (VBM). Methods: Nine children 45XO karyotype TS and 20 age-matched control girls were recruited in this study. Wechsler intelligence scale for children was used to obtain their intelligence quotients (IQ). High-resolution magnetic MR imaging was performed in TS children and control girls to collect the whole brain structural data. The data were analyzed by VBM based on SPM 8 to compare the volume of gray and white matter between the TS children and normal controls by using covariance analysis. Results: The IQ of TS children was 81 ± 13, and the IQ of the controls was 109 ± 16. Statistical analysis revealed significant difference of IQ between the two groups (t = -4.70, P < 0.05). Compared with normal controls, TS children showed significantly decreased volume (numbers of voxel in clusters were 631, 525, 520, t = 3.95, 3.50, 3.36, P < 0.05, FWE-corrected) in the gray matter of the right superior parietal lobule, postcentral gyrus, precuneus lobule, calcarine, cuneus cortices, as well as the left middle and inferior occipital lobe. However, the volume of the bilateral supplemental motor area and the medial superior frontal lobes, the right middle cingulum, the left superior, middle, and inferior temporal gyri were increased in the TS children compared to the controls. The left fusiform, the left parahippocampus, the left hippocampus and the left cerebellum were also enlarged in TS children (numbers of voxel in clusters were 2082, 974, 1708, 588, 579, t = 5.45, 4.59, 4.40, 4.29, 3.55, P < 0.05, FWE-corrected). White matter regions in the left postcentral gyrus and inferior parietal lobule showed significantly reduced volume (voxel number 957, t = 5.85, P < 0.05, FWE-corrected). Conclusion: Children with monosomy TS show abnormal gray and white matter volumes in some brain regions, which may be involved in the
Arc Security System Based on Harmonics Detection for the TS ICRH Transmitter

International Nuclear Information System (INIS)

Berger-by, G.; Beaumont, B.; Lombard, G.; Millon, L.; Mollard, P.; Volpe, D.

2006-01-01

Since 1999 and with the help of I.P.P. (Institut fuer Plasmaphysik) Garching, we have tested in the Tore Supra (T.S.) ICRH transmitter, arcs security systems based on harmonics detection in a frequency band lower than the generator frequency. These systems have been designed for ASDEX in order to discriminate between the arcs and the ELMS mismatches during H-mode plasmas; they have been supplied to T.S. by a loan contract by I.P.P. The first tests done in T.S. were very successful and have permitted in 2000 to build a prototype matching T.S. technical requirements. These systems have some advantages in comparison with traditional securities which are based on use of a level on the V r /V f (Reflected to Forward voltage ratio) calculation . They do not use calculation, calibration with frequency or level. They can use RF signals from directional couplers or probes, so they are fully independent of the measurement systems. The detection bandwidth (4 MHz-35 MHz on TS) is independent of the antennae working frequencies. The detection principle is therefore insensitive to the crosstalk between the antennae and to the antennae coupling variations. The RF arc security box is installed in the generator hall which can be located far from the torus hall and the antennae (about 50 m on T.S.) a feature which is very relevant for the ITER transmitters. In 2001 we have built 3 systems based on our prototype in order to improve the protection of the 3 ICRH generators and antennae. These systems use industrial pass-band filters and a very sensitive linear detection (- 60 dBm) in order to facilitate the adjustment. Optical fibbers are used to transfer, with a very high immunity, the trip information to the generator electronic pilot. To guarantee safe operation, a checking test of the entire security chain is performed with a 10 MHz RF oscillator before each plasma start. The RF principle used on T.S. ICRH transmitter and its electronic interactions with the VME command control of
The genetic etiology of Tourette Syndrome: Large-scale collaborative efforts on the precipice of discovery

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Marianthi Georgitsi

2016-08-01

Full Text Available Gilles de la Tourette Syndrome (TS is a childhood-onset neurodevelopmental disorder that is characterized by multiple motor and phonic tics. It has a complex etiology with multiple genes likely interacting with environmental factors to lead to the onset of symptoms. The genetic basis of the disorder remains elusive;however, multiple resources and large-scale projects are coming together, launching a new era in the field and bringing us on the verge of discovery. The large-scale efforts outlined in this report, are complementary and represent a range of different approaches to the study of disorders with complex inheritance. The Tourette Syndrome Association International Consortium for Genetics (TSAICG has focused on large families, parent-proband trios and cases for large case-control designs such as genomewide association studies (GWAS, copy number variation (CNV scans and exome/genome sequencing. TIC Genetics targets rare, large effect size mutations in simplex trios and multigenerational families. The European Multicentre Tics in Children Study (EMTICS seeks to elucidate gene-environment interactions including the involvement of infection and immune mechanisms in TS etiology. Finally, TS-EUROTRAIN, a Marie Curie Initial Training Network, aims to act as a platform to unify large-scale projects in the field and to educate the next generation of experts. Importantly, these complementary large-scale efforts are joining forces to uncover the full range of genetic variation and environmental risk factors for TS, holding great promise for indentifying definitive TS susceptibility genes and shedding light into the complex pathophysiology of this disorder.
The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery

Science.gov (United States)

Georgitsi, Marianthi; Willsey, A. Jeremy; Mathews, Carol A.; State, Matthew; Scharf, Jeremiah M.; Paschou, Peristera

2016-01-01

Gilles de la Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder that is characterized by multiple motor and phonic tics. It has a complex etiology with multiple genes likely interacting with environmental factors to lead to the onset of symptoms. The genetic basis of the disorder remains elusive. However, multiple resources and large-scale projects are coming together, launching a new era in the field and bringing us on the verge of discovery. The large-scale efforts outlined in this report are complementary and represent a range of different approaches to the study of disorders with complex inheritance. The Tourette Syndrome Association International Consortium for Genetics (TSAICG) has focused on large families, parent-proband trios and cases for large case-control designs such as genomewide association studies (GWAS), copy number variation (CNV) scans, and exome/genome sequencing. TIC Genetics targets rare, large effect size mutations in simplex trios, and multigenerational families. The European Multicentre Tics in Children Study (EMTICS) seeks to elucidate gene-environment interactions including the involvement of infection and immune mechanisms in TS etiology. Finally, TS-EUROTRAIN, a Marie Curie Initial Training Network, aims to act as a platform to unify large-scale projects in the field and to educate the next generation of experts. Importantly, these complementary large-scale efforts are joining forces to uncover the full range of genetic variation and environmental risk factors for TS, holding great promise for identifying definitive TS susceptibility genes and shedding light into the complex pathophysiology of this disorder. PMID:27536211
Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

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Sadia Masood

2014-03-01

Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.
Mounier-Kuhn syndrome: radiological findings and clinical presentation

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Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

2011-05-15

Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)
Deep brain stimulation in tourette syndrome: a description of 3 patients with excellent outcome.

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Savica, Rodolfo; Stead, Matt; Mack, Kenneth J; Lee, Kendall H; Klassen, Bryan T

2012-01-01

Tourette syndrome (TS) is a complex neuropsychiatric disorder often starting in childhood and characterized by the presence of multiple motor and vocal tics and psychiatric comorbidities. Patients with TS usually respond to medical treatment, and the condition often improves during adolescence; however, surgery has been considered a possible approach for the subset of patients with ongoing medically refractory disease. Ablative procedures have been associated with unsatisfactory results and major adverse effects, prompting trials of deep brain stimulation (DBS) as an alternative therapy. It remains unclear which of the various nuclear targets is most effective in TS. We describe 3 patients with TS who underwent DBS targeting the bilateral thalamic centromedian/parafascicular complex (CM/Pf) with an excellent clinical outcome. At 1-year follow-up, the mean reduction in the total Yale Global Tic Severity Scale score in the 3 patients was 70% (range, 60%-80%).Our study further supports the role of the CM/Pf DBS target in medically intractable TS. Copyright © 2012 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.
Limbic and motor circuits involved in symmetry behavior in Tourette's syndrome

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de Vries, F.E.; van den Heuvel, O.A.; Cath, D.C.; Groenewegen, H.J.; van Balkom, A.J.L.M.; Boellaard, R.; Lammertsma, A.A.; Veltman, D.J.

2013-01-01

The need for symmetry and ordering objects related to a "just right"-feeling is a common symptom in Tourette's syndrome (TS) and resembles symmetry behavior in obsessive-compulsive disorder, but its pathophysiology is unknown. We used a symptom provocation paradigm to investigate the neural
Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

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Patricia Chavez

2014-01-01

Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.
Effect of the consumption of a fermented dairy product containing Bifidobacterium lactis DN-173 010 on constipation in childhood: a multicentre randomised controlled trial (NTRTC: 1571

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Perrin Catherine

2009-03-01

Full Text Available Abstract Background Constipation is a frustrating symptom affecting 3% of children worldwide. Randomised controlled trials show that both polyethylene glycol and lactulose are effective in increasing defecation frequency in children with constipation. However, in 30–50%, these children reported abdominal pain, bloating, flatulence, diarrhoea, nausea and bad taste of the medication. Two recent studies have shown that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency in constipation-predominant irritable bowel syndrome patients with a defecation frequency Methods/design It is a two nation (The Netherlands and Poland double-blind, placebo-controlled randomised multicentre trial in which 160 constipated children (age 3–16 years with a defecation frequency Bifidobacterium lactis DN-173 010 or a control product, twice a day, for 3 weeks. During the study all children are instructed to try to defecate on the toilet for 5–10 minutes after each meal (3 times a day and daily complete a standardized bowel diary. Primary endpoint is stool frequency. Secondary endpoints are stool consistency, faecal incontinence frequency, pain during defecation, digestive symptoms (abdominal pain, flatulence, adverse effects (nausea, diarrhoea, bad taste and intake of rescue medication (Bisacodyl. Rate of success and rate of responders are also evaluated, with success defined as ≥ 3 bowel movements per week and ≤1 faecal incontinence episode over the last 2 weeks of product consumption and responder defined as a subject reporting a stool frequency ≥ 3 on the last week of product consumption. To demonstrate that the success percentage in the intervention group will be 35% and the success percentage in the control group (acidified milk without ferments, toilet training, bowel diary will be 15%, with alpha 0.05 and power 80%, a total sample size of 160 patients was calculated. Conclusion This

TS WEBSITE AND SOCIAL MEDIA ANALYTICS- DECEMBER 2016

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Department of Veterans Affairs — This PowerPoint included accomplishments reached in December 2016, along with how many TS users and Pulse users there are currently. Not only does this PowerPoint...
TS WEBSITE AND SOCIAL MEDIA ANALYTICS NOVEMBER 2016

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Department of Veterans Affairs — This PowerPoint included accomplishments reached in November 2016, along with how many TS users and Pulse users there are currently. Not only does this PowerPoint...
Turner syndrome: counseling prior to oocyte donation

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Ester Silveira Ramos

2007-03-01

Full Text Available Ovarian failure is a typical feature of Turner syndrome (TS. Patients are followed clinically with hormone replacement therapy (HRT and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.

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Bellfield, Edward J; Shad, Zohra

2017-09-01

We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype. Furthermore, in this case, the cellular pathways attenuating growth via PTPN11 mutation appear to supersede the SHOX overdosage-an observation that can lead to further research in genetic mechanisms of growth physiology.
Comorbidities, Social Impact, and Quality of Life in Tourette Syndrome.

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Eapen, Valsamma; Cavanna, Andrea E; Robertson, Mary M

2016-01-01

Tourette syndrome (TS) is more than having motor and vocal tics, and this review will examine the varied comorbidities as well as the social impact and quality of life (QoL) in individuals with TS. The relationship between any individual and his/her environment is complex, and this is further exaggerated in the case of a person with TS. For example, tics may play a significant role in shaping the person's experiences, perceptions, and interactions with the environment. Furthermore, associated clinical features, comorbidities, and coexisting psychopathologies may compound or alter this relationship. In this regard, the common comorbidities include attention-deficit hyperactivity disorder and disruptive behaviors, obsessive compulsive disorder, and autism spectrum disorder, and coexistent problems include anxiety, depression, and low self-esteem, which can all lead to poorer psychosocial functioning and QoL. Thus, the symptoms of TS and the associated comorbid conditions may interact to result in a vicious cycle or a downward spiraling of negative experiences and poor QoL. The stigma and social maladjustment in TS and the social exclusion, bullying, and discrimination are considered to be caused in large part by misperceptions of the disorder by teachers, peers, and the wider community. Improved community and professional awareness about TS and related comorbidities and other psychopathologies as well as the provision of multidisciplinary services to meet the complex needs of this clinical population are critical. Future research to inform the risk and resilience factors for successful long-term outcomes is also warranted.
Growth hormone treatment in Turner's syndrome: A real world experience

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Vijay Sheker Reddy Danda

2017-01-01

Full Text Available Objective: Short stature is a universal clinical feature of Turner's syndrome (TS. Growth failure begins in fetal life, and adults with TS are on an average 20 cm shorter than the normal female population. Since there is a paucity of data from India regarding the effect of growth hormone (GH on TS patients, we retrospectively analyzed the data of TS patients who are on GH treatment. Methods: This hospital-based observational retrospective study was conducted in a tertiary care hospital of Hyderabad. The data such as height, weight, and bone age of 16 patients who are diagnosed with TS on GH therapy for at least 6 months were included in the study. All the patients were treated with human recombinant GH at the dose of 0.3 mg/kg/week administered as daily subcutaneous injections. Results: The mean age at diagnosis was 12.7 years. The mean height at the start of GH therapy was 1.26 m, and mean height standard deviation score (HSDS was-0.61 when compared to Turner's specific reference data. With a mean duration of GH therapy of 25 months, the mean height at the end of therapy was 1.37 m and the mean height as per HSDS was + 0.37 resulting in a mean height gain of + 0.99 HSDS. Conclusion: Our observation shows that girls with TS benefit from early diagnosis and initiation of treatment with GH.
Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

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Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

2012-12-01

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.
Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

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Sushma Yalavarthi

2017-01-01

Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.
Triangles, tricks and tics: Hyper-mentalizing in response to animated shapes in Tourette syndrome.

Science.gov (United States)

Eddy, Clare M; Cavanna, Andrea E

2015-10-01

Tourette syndrome (TS) can feature complex tics involving socially inappropriate behaviours. Adults with TS can also demonstrate differences to healthy controls when reasoning about mental states. This study investigated spontaneous mentalizing in TS. Twenty adults with TS and twenty healthy controls completed the animations task. Participants were asked to watch short ambiguous animations involving two triangles and describe what was happening. Some animations featured random movement of the triangles, while others depicted social interactions that were simple (e.g., dancing) or more complex (e.g., one triangle tricking the other). Measures were taken of executive functions, alexithymia and clinical symptoms. Individuals with TS responded similarly to controls when viewing animations featuring simple and complex interactions, demonstrating intact mentalizing ability. However, significant group differences were apparent for the random movement animations. TS was associated with a greater tendency to attribute mental states during this condition, and to describe random movements as motivated actions guided by the intentions of the triangles. There were no group differences for the alexithymia scale, but TS was associated with mild executive deficits. No relationships were apparent between animation responses and other measures. Our findings suggest that TS is associated with a propensity to adopt the intentional stance. Hyper-mentalizing in TS could be linked to both dopamine dysfunction and altered social behaviour, whereby amplified salience of social cues could contribute to the complex interplay between environmental context and tic expression. These observations may offer further insight into the potential effects of dopamine dysfunction on social cognition. Copyright © 2015 Elsevier Ltd. All rights reserved.
Dopaminergic activity in Tourette syndrome and obsessive-compulsive disorder.

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Denys, Damiaan; de Vries, Froukje; Cath, Danielle; Figee, Martijn; Vulink, Nienke; Veltman, Dick J; van der Doef, Thalia F; Boellaard, Ronald; Westenberg, Herman; van Balkom, Anton; Lammertsma, Adriaan A; van Berckel, Bart N M

2013-11-01

Tourette syndrome (TS) and obsessive-compulsive disorder (OCD) both are neuropsychiatric disorders associated with abnormalities in dopamine neurotransmission. Aims of this study were to quantify striatal D2/3 receptor availability in TS and OCD, and to examine dopamine release and symptom severity changes in both disorders following amphetamine challenge. Changes in [(11)C]raclopride binding potential (BP(ND)) were assessed using positron emission tomography before and after administration of d-amphetamine (0.3 mg kg(-1)) in 12 TS patients without comorbid OCD, 12 OCD patients without comorbid tics, and 12 healthy controls. Main outcome measures were baseline striatal D2/3 receptor BP(ND) and change in BP(ND) following amphetamine as a measure of dopamine release. Voxel-based analysis revealed significantly decreased baseline [(11)C]raclopride BP(ND) in bilateral putamen of both patient groups vs. healthy controls, differences being more pronounced in the TS than in the OCD group. Changes in BP(ND) following amphetamine were not significantly different between groups. Following amphetamine administration, tic severity increased in the TS group, which correlated with BP(ND) changes in right ventral striatum. Symptom severity in the OCD group did not change significantly following amphetamine challenge and was not associated with changes in BP(ND). This study provides evidence for decreased striatal D2/3 receptor availability in TS and OCD, presumably reflecting higher endogenous dopamine levels in both disorders. In addition, it provides the first direct evidence that ventral striatal dopamine release is related to the pathophysiology of tics. Copyright © 2013 Elsevier B.V. and ECNP. All rights reserved.
Local-Global Processing in Obsessive-Compulsive Disorder and Comorbid Tourette's Syndrome

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Rankins, D.; Bradshaw, J. L.; Georgiou-Karistianis, N.

2005-01-01

Neuropsychological and neuroimaging studies implicate attentional difficulties in obsessive-compulsive disorder (OCD), but results are inconsistent due possibly to sample heterogeneity and lack of control of comorbid disorders, such as Tourette's syndrome (TS). Nevertheless, it has been suggested that OCD symptomatology may be a result of…
Cloning and Characterization of EF-Tu and EF-Ts from Pseudomonas aeruginosa

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Stephanie O. Palmer

2013-01-01

Full Text Available We have cloned genes encoding elongation factors EF-Tu and EF-Ts from Pseudomonas aeruginosa and expressed and purified the proteins to greater than 95% homogeneity. Sequence analysis indicated that P. aeruginosa EF-Tu and EF-Ts are 84% and 55% identical to E. coli counterparts, respectively. P. aeruginosa EF-Tu was active when assayed in GDP exchange assays. Kinetic parameters for the interaction of EF-Tu with GDP in the absence of EF-Ts were observed to be = 33 μM, = 0.003 s−1, and the specificity constant was s−1 μM−1. In the presence of EF-Ts, these values were shifted to = 2 μM, = 0.005 s−1, and the specificity constant was s−1 μM−1. The equilibrium dissociation constants governing the binding of EF-Tu to GDP ( were 30–75 nM and to GTP ( were 125–200 nM. EF-Ts stimulated the exchange of GDP by EF-Tu 10-fold. P. aeruginosa EF-Tu was active in forming a ternary complex with GTP and aminoacylated tRNA and was functional in poly(U-dependent binding of Phe-tRNAPhe at the A-site of P. aeruginosa ribosomes. P. aeruginosa EF-Tu was active in poly(U-programmed polyphenylalanine protein synthesis system composed of all P. aeruginosa components.
Influence of gender on Tourette syndrome beyond adolescence.

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Lichter, D G; Finnegan, S G

2015-02-01

Although boys are disproportionately affected by tics in Tourette syndrome (TS), this gender bias is attenuated in adulthood and a recent study has suggested that women may experience greater functional interference from tics than men. The authors assessed the gender distribution of adults in a tertiary University-based TS clinic population and the relative influence of gender and other variables on adult tic severity (YGTSS score) and psychosocial functioning (GAF score). We also determined retrospectively the influence of gender on change in global tic severity and overall TS impairment (YGTSS) since adolescence. Females were over-represented in relation to previously published epidemiologic surveys of both TS children and adults. Female gender was associated with a greater likelihood of tic worsening as opposed to tic improvement in adulthood; a greater likelihood of expansion as opposed to contraction of motor tic distribution; and with increased current motor tic severity and tic-related impairment. However, gender explained only a small percentage of the variance of the YGTSS global severity score and none of the variance of the GAF scale score. Psychosocial functioning was influenced most strongly by tic severity but also by a variety of comorbid neuropsychiatric disorders. Published by Elsevier Masson SAS.
Study of medication-free children with Tourette syndrome do not show imaging abnormalities

DEFF Research Database (Denmark)

Jeppesen, Signe Søndergaard; Debes, Nanette Mol; Simonsen, Helle Juhl

2014-01-01

BACKGROUND: Imaging studies of patients with Tourette's syndrome (TS) across different cohorts have shown alterations in gray and white matter in areas associated with the cortico-striato-thalamic-cortical (CSTC) pathways; however, no consistent findings have subsequently established a clear...
CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

Science.gov (United States)

Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A

2017-07-01

To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (PTurner syndrome.
Clinical features of women with Turner syndrome experiencing transition period in Japan.

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Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

2017-05-30

Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.
A Case of Ramsay Hunt Syndrome with Atypical Presentation

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Kamil KAYAYURT

2014-09-01

Full Text Available SUMMARY: Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis. ÖZET: Ramsay Hunt sendromu, varisella-zoster virüsün latent olarak kaldığı genikulat ganglionda aktifleşmesiyle oluşan herpes zosterin nadir bir komplikasyonudur. Ramsay Hunt sendromunda fasiyal sinir en sık etkilenen sinir olmasına rağmen diğer kraniyal sinirler ve servikal sinirler de tutulabilir. Bu yazıda, 42 yaşındaki erkek hastada servikal tutulumun da eşlik ettiği atipik bir Ramsay Hunt sedromu olgusu sunuldu. Ramsay Hunt sedromunda spontan iyileşme oranları düşük olduğundan bu hastaların tanılarının erken dönemde konması ve tedavilerinin hemen başlanması paralizinin tam olarak iyileşmesinde kilit role sahiptir. Key words: Facial palsy, Ramsay Hunt syndrome, varicella-zoster virus, Anahtar sözcükler: Fasiyal paralizi, Ramsay Hunt sendromu, varisella-zoster virüs
The role of immune mechanisms in Tourette syndrome.

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Martino, Davide; Zis, Panagiotis; Buttiglione, Maura

2015-08-18

Tourette syndrome (TS) is a childhood-onset tic disorder associated with abnormal development of brain networks involved in the sensory and motor processing. An involvement of immune mechanisms in its pathophysiology has been proposed. Animal models based on active immunization with bacterial or viral mimics, direct injection of cytokines or patients' serum anti-neuronal antibodies, and transgenic approaches replicated stereotyped behaviors observed in human TS. A crucial role of microglia in the neural-immune crosstalk within TS and related disorders has been proposed by animal models and confirmed by recent post mortem studies. With analogy to autism, genetic and early life environmental factors could foster the involvement of immune mechanisms to the abnormal developmental trajectories postulated in TS, as well as lead to systemic immune dysregulation in this condition. Clinical studies demonstrate an association between TS and immune responses to pathogens like group A Streptococcus (GAS), although their role as risk-modifiers is still undefined. Overactivity of immune responses at a systemic level is suggested by clinical studies exploring cytokine and immunoglobulin levels, immune cell subpopulations, and gene expression profiling of peripheral lymphocytes. The involvement of autoantibodies, on the other hand, remains uncertain and warrants more work using live cell-based approaches. Overall, a body of evidence supports the hypothesis that disease mechanisms in TS, like other neurodevelopmental illnesses (e.g. autism), may involve dysfunctional neural-immune cross-talk, ultimately leading to altered maturation of brain pathways controlling different behavioral domains and, possibly, differences in organising immune and stress responses. This article is part of a Special Issue entitled SI: Neuroimmunology in Health And Disease. Copyright © 2014 Elsevier B.V. All rights reserved.
Evaluation of the Airborne CASI/TASI Ts-VI Space Method for Estimating Near-Surface Soil Moisture

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Lei Fan

2015-03-01

Full Text Available High spatial resolution airborne data with little sub-pixel heterogeneity were used to evaluate the suitability of the temperature/vegetation (Ts/VI space method developed from satellite observations, and were explored to improve the performance of the Ts/VI space method for estimating soil moisture (SM. An evaluation of the airborne ΔTs/Fr space (incorporated with air temperature revealed that normalized difference vegetation index (NDVI saturation and disturbed pixels were hindering the appropriate construction of the space. The non-disturbed ΔTs/Fr space, which was modified by adjusting the NDVI saturation and eliminating the disturbed pixels, was clearly correlated with the measured SM. The SM estimations of the non-disturbed ΔTs/Fr space using the evaporative fraction (EF and temperature vegetation dryness index (TVDI were validated by using the SM measured at a depth of 4 cm, which was determined according to the land surface types. The validation results show that the EF approach provides superior estimates with a lower RMSE (0.023 m3·m−3 value and a higher correlation coefficient (0.68 than the TVDI. The application of the airborne ΔTs/Fr space shows that the two modifications proposed in this study strengthen the link between the ΔTs/Fr space and SM, which is important for improving the precision of the remote sensing Ts/VI space method for monitoring SM.
Posterior Reversible Encephalopathy Syndrome Presenting as Stroke Mimic

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Daniel Frick

2017-05-01

Full Text Available We present the case of a 33-year-old male with end stage renal disease presenting to the emergency department (ED with headache, dizziness, and unilateral weakness. Initial concern was for ischemic or hemorrhagic stroke. Magnetic resonance imaging confirmed posterior reversible encephalopathy syndrome (PRES. The patient was treated appropriately and made a full neurologic recovery. PRES is an under-recognized diagnosis in the ED. As a stroke mimic, PRES can lead the clinician on an incorrect diagnostic pathway with potential for iatrogenic harm.

Therapy-related acute myeloid leukemia and myelodysplastic syndrome: a clinical and morphologic study of 65 cases

International Nuclear Information System (INIS)

Michels, S.D.; McKenna, R.W.; Arthur, D.C.; Brunning, R.D.

1985-01-01

This study consists of 65 patients (pts) who developed a myelodysplastic syndrome (MDS) (39 pts) or acute myeloid leukemia (AML) (26 pts) following chemotherapy and/or radiotherapy; the interval from the onset of therapy to bone marrow abnormality ranged from 11 to 192 months (median, 58). Thirty-three patients had been previously treated for lymphoproliferative diseases, 29 for carcinoma, and three for a nonneoplastic disorder. Approximately 30% of the cases presenting in the MDS phase evolved to AML in one to 12 months (median, 3.5). The AML in 49% of the cases was not readily classified according to French-American-British (FAB) criteria; the primary difficulty in classification related to the involvement of multiple cell lines. Among the cases that could be classified, all FAB types were represented except for M1; M2 was the most frequent type. Clonal chromosome abnormalities were found in marrow specimens from 22 of 24 (92%) patients studied with G banding; 11 had abnormalities of chromosomes 5 and/or 7. The median survival for all patients was four months with no significant difference between those treated and not treated with antileukemic therapy. The median survival was three months for the patients presenting with AML, six months for the patients with AML following an MDS, and four months for the patients with an MDS that did not evolve to AML. The findings in the present study suggest that there are three stages of therapy-related panmyelosis: (1) pancytopenia with associated myelodysplastic changes, (2) a frank MDS, and (3) overt AML. Many patients will present in the stage of overt AML that differs from de novo AML primarily by the high incidence of trilineage involvement, difficulty in classification, frequent cytogenetic abnormalities, and poor response to antileukemic therapy
Dyspnoea in-patient with antiphospholipid syndrome; case Presentation and literature revision

International Nuclear Information System (INIS)

Restrepo, Lucas; Londono, Maria Carlota; Anaya, Juan Manuel

2001-01-01

The antiphospholipid syndrome (AFS) is characterized by vascular thrombosis and/or pregnancy morbidity associated to presence of antiphospholipid antibodies (anticardiolipin and/or lupus anticoagulant), This syndrome may occur alone primary -PAFS-) or in association with systemic lupus erythematosus (secondary -SAFS, Both primary and secondary AFS can be responsible for systemic manifestations other than vascular, among them pulmonary, Here is presented a patient with dyspnoea due to pulmonary hypertension (PHT) and interstitial pulmonary disease (IPD), in whom a diagnostic of SAFS was done, The pulmonary manifestations of the AFS are revised including pulmonary thromboembolism, PHT, IPD, pulmonary hemorrhage, and adult respiratory syndrome with multisystemic failure
Fertility and Pregnancy in Turner Syndrome.

Science.gov (United States)

Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

2016-08-01

Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum. Copyright © 2016 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.
Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders.

Science.gov (United States)

Browne, Heidi A; Modabbernia, Amirhossein; Buxbaum, Joseph D; Hansen, Stefan N; Schendel, Diana E; Parner, Erik T; Reichenberg, Abraham; Grice, Dorothy E

2016-09-01

We assessed the role of prenatal maternal smoking in risk for Tourette syndrome and chronic tic disorder (TS/CT) and pediatric-onset obsessive-compulsive disorder (OCD). In an analysis of 73,073 singleton pregnancies from the Danish National Birth Cohort, we calculated incidence rates (IR) per 1,000 person-year for TS/CT and OCD. We then determined crude and adjusted hazard ratios and 95% CIs associated with prenatal maternal smoking, considering smoking as a dichotomous (yes/no) variable or a stratified variable (no smoking, light smoking, and heavy smoking [≥10 cigarettes/day]). Additional analyses examined the effect of maternal smoking on risk for TS/CT with other comorbid psychiatric conditions. In final adjusted analyses, heavy smoking was associated with a 66% increased risk for TS/CT (adjusted hazard ratio = 1.66, 95% CI = 1.17-2.35). In addition, heavy smoking was associated with a 2-fold increased risk for TS/CT with comorbid attention-deficit/hyperactivity disorder (ADHD), and both light and heavy smoking were associated with a more than 2-fold increased risk for TS/CT with any non-ADHD psychiatric comorbidity. Our parallel analyses of pediatric-onset OCD were likely underpowered but showed similar relationships. Prenatal maternal smoking was associated with increased risk for TS/CT as well as TS/CT with comorbid psychiatric conditions, even after adjustment for several important variables, including maternal psychiatric history, socioeconomic status, and partner smoking. Our findings point to a pathway linking prenatal tobacco exposure and altered brain development to TS/CT. Copyright © 2016 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Prevalence and predictors of hair pulling disorder and excoriation disorder in Tourette syndrome.

Science.gov (United States)

Greenberg, Erica; Tung, Esther S; Gauvin, Caitlin; Osiecki, Lisa; Yang, Kelly G; Curley, Erin; Essa, Angela; Illmann, Cornelia; Sandor, Paul; Dion, Yves; Lyon, Gholson J; King, Robert A; Darrow, Sabrina; Hirschtritt, Matthew E; Budman, Cathy L; Grados, Marco; Pauls, David L; Keuthen, Nancy J; Mathews, Carol A; Scharf, Jeremiah M

2017-11-02

Trichotillomania/hair pulling disorder (HPD) and excoriation/skin picking disorder (SPD) are childhood-onset, body-focused repetitive behaviors that are thought to share genetic susceptibility and underlying pathophysiology with obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). We sought to determine the prevalence of DSM-5 HPD and SPD in TS patients, and to identify clinical factors most associated with their co-morbidity with TS. Participants included 811 TS patients recruited from TS specialty clinics for a multi-center genetic study. Patients were assessed using standardized, validated semi-structured interviews. HPD and SPD diagnoses were determined using a validated self-report questionnaire. HPD/SPD prevalence rates were calculated, and clinical predictors were evaluated using regression modeling. 3.8 and 13.0% of TS patients met DSM-5 criteria for HPD and SPD, respectively. In univariable analyses, female sex, OCD, and both tic and obsessive-compulsive symptom severity were among those associated with HPD and/or SPD. In multivariable analyses, only lifetime worst-ever motor tic severity remained significantly associated with HPD. Female sex, co-occurring OCD, ADHD, and motor tic severity remained independently associated with SPD. This is the first study to examine HPD and SPD prevalence in a TS sample using semi-structured diagnostic instruments. The prevalence of HPD and SPD in TS patients, and their association with increased tic severity and co-occurring OCD, suggests that clinicians should screen children with TS and related disorders for HPD/SPD, particularly in females and in those with co-occurring OCD. This study also helps set a foundation for subsequent research regarding HPD/SPD risk factors, pathophysiology, and treatment models.
Hearing loss among patients with Turner's syndrome: literature review

Directory of Open Access Journals (Sweden)

Cresio Alves

2014-06-01

Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.
Positron identification by TRDs in TS93 and PAMELA experiments

International Nuclear Information System (INIS)

Bellotti, R.; Cafagna, F.; Castellano, M.; Circella, M.; De Marzo, C.; De Cataldo, G.; Giglietto, N.; Marangelli, B.; Raino, A.; Spinelli, P.

1997-01-01

We are involved in a program to study the antimatter components of the cosmic rays in outer space. We present the performances of a transition radiation detector we have built for positron identification during a balloon flight in 1993. The flight (TS93) was dedicated to the measurement of the positron spectrum in the energy range 4-50 GeV. We present also the design and expected performances of a similar detector we intend to build for a future experiment (PAMELA), to be run on a satellite by the end of 1999, in order to complete this program with higher statistics and at higher energies, namely about 200 GeV. (orig.)
Cognition, Emotion and Behavior in Children with Tourette's Syndrome and Children with ADHD-Combined Subtype-A Two-Year Follow-Up Study

DEFF Research Database (Denmark)

Hovik, Kjell Tore; Plessen, Kerstin J; Cavanna, Andrea E

2015-01-01

OBJECTIVE: This two-year follow-up study investigates the course of and association among measures of cognitive control, focused attention, decision-making and symptom severity (anxiety, depression and behavior) in children and adolescents with Tourette's Syndrome (TS) or Attention...... at T1 and T2. In the decision-making task, the children with TS (with or without comorbidities) preferred a safer strategy in selecting advantageous choices than the children with ADHD-C and the TDC at T2. Children with TS and children with ADHD-C showed higher symptoms of anxiety and depression...... and more problems with emotional control compared with TDC at both time points. Finally, children with ADHD-C self-reported more depression symptoms than those with TS at both assessments. For the TS group, safer decision-making was related to better emotional control, and this relationship was stronger...
Neural plasticity in functional and anatomical MRI studies of children with Tourette syndrome

DEFF Research Database (Denmark)

Eichele, Heike; Plessen, Kerstin J

2012-01-01

Background: Tourette syndrome (TS) is a neuropsychiatric disorder with childhood onset characterized by chronic motor and vocal tics. The typical clinical course of an attenuation of symptoms during adolescence in parallel with the emerging self-regulatory control during development suggests...... that plastic processes may play an important role in the development of tic symptoms. Methods: We conducted a systematic search to identify existing imaging studies (both anatomical and functional magnetic resonance imaging [fMRI]) in young persons under the age of 19 years with TS. Results: The final search...... compensatory pathways in children with TS. Along with alterations in regions putatively representing the origin of tics, deviations in several other regions most likely represent an activity-dependent neural plasticity that help to modulate tic severity, such as the prefrontal cortex, but also in the corpus...
Functional brain asymmetry, attentional modulation, and interhemispheric transfer in boys with Tourette syndrome

DEFF Research Database (Denmark)

Plessen, Kerstin J; Lundervold, Arvid; Grüner, Renate

2007-01-01

on the right ear stimulus in the dichotic listening situation is thought to involve the same prefrontal attentional and executive functions that are involved in the suppression of tics, whereas, performance when focusing attention on the left ear stimulus additionally involves a callosal transfer...... to shift attention normally when instructed to focus on the right ear stimulus. When instructed to focus attention on the left ear stimulus, however, performance deteriorated in the TS group. Correlations with CC area further supported the hypothesized presence of deviant callosal functioning in the TS......We tested the hypothesis that children with Tourette syndrome (TS) would exhibit aberrant brain lateralization compared to a healthy control (HC) group in an attention-modulation version of a verbal dichotic listening task using consonant-vowel syllables. The modulation of attention to focus...
Current best practice in the management of Turner syndrome

Science.gov (United States)

Shankar, Roopa Kanakatti; Backeljauw, Philippe F.

2017-01-01

Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population. PMID:29344338
What makes you tic? Translational approaches to study the role of stress and contextual triggers in Tourette syndrome.

Science.gov (United States)

Godar, Sean C; Bortolato, Marco

2017-05-01

Tourette syndrome (TS) is a neurodevelopmental condition characterized by multiple, recurring motor and phonic tics. Rich empirical evidence shows that the severity of tics and associated manifestations is increased by several stressors and contextual triggers; however, the neurobiological mechanisms responsible for symptom exacerbation in TS remain poorly understood. This conceptual gap partially reflects the high phenotypic variability in tics, as well as the existing difficulties in operationalizing and standardizing stress and its effects in a clinical setting. Animal models of TS may be highly informative tools to overcome some of these limitations; these experimental preparations have already provided critical insights on key aspects of TS pathophysiology, and may prove useful to identify the neurochemical alterations induced by different stressful contingencies. In particular, emerging knowledge on the role of contextual triggers in animal models of TS may inform the development of novel pharmacological interventions to reduce tic fluctuations in this disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.
What makes you tic? Translational approaches to study the role of stress and contextual triggers in Tourette syndrome

Science.gov (United States)

Godar, Sean C; Bortolato, Marco

2016-01-01

Tourette syndrome (TS) is a neurodevelopmental condition characterized by multiple, recurring motor and phonic tics. Rich empirical evidence shows that the severity of tics and associated manifestations is increased by several stressors and contextual triggers; however, the neurobiological mechanisms responsible for symptom exacerbation in TS remain poorly understood. This conceptual gap partially reflects the high phenotypic variability in tics, as well as the existing difficulties in operationalizing and standardizing stress and its effects in a clinical setting. Animal models of TS may be highly informative tools to overcome some of these limitations; these experimental preparations have already provided critical insights on key aspects of TS pathophysiology, and may prove useful to identify the neurochemical alterations induced by different stressful contingencies. In particular, emerging knowledge on the role of contextual triggers in animal models of TS may inform the development of novel pharmacological interventions to reduce tic fluctuations in this disorder. PMID:27939782
Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome.

Science.gov (United States)

King, Jessica E; Plamondon, Jenna; Counts, Debra; Laney, Dawn; Dixon, Shannan DeLany

2016-02-01

Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation. An electronic survey, given to caregivers of girls with TS diagnosed at barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.
The Rorschach test and Gilles de la Tourette's syndrome: a pilot case-control study.

Science.gov (United States)

Balottin, Umberto; Rossi, Maura; Rossi, Giorgio; Viganò, Lucia; Nanti, Marta; Salini, Silvia; Lanzi, Giovanni; Termine, Cristiano

2009-10-01

To date only three studies, all lacking a control group, have investigated the personality style underlying tic disorders or Tourette's syndrome (TS), using the projective Rorschach test. Despite the recent controversy about its proper use in clinical practice and research, the Rorschach test may be useful to explore personality organization in TS. The research hypothesis under investigation in this exploratory study was that young TS patients exhibit a peculiar personality organization, with significantly increased indicators of poor emotional control, aggression, anxiety and depression, on the Rorschach test, compared to healthy controls. We analyed the Rorschach protocols of 17 newly diagnosed paediatric TS patients and 17 age- and sex-matched healthy controls. Compared with the controls young TS patients recorded significantly lower mean percentages of F and F+ responses and a significantly higher number of FM and FC responses, thus showing reduced control of emotions and difficulty in integrating aggressivity. Furthermore, associations emerged between comorbidity with ADHD and increased emotional instability and between severity of tics and of OCD and a pattern of emotional hyper-control and application of rigid defensive mechanisms. These results seem to confirm the existence of a peculiar personality style in young TS patients and may have important implications, both pathogenetic and therapeutic.
Synthesis of mesoporous TS-1 using a hybrid SiO2–TiO2 xerogel for catalytic oxidative desulfurization

International Nuclear Information System (INIS)

Yang, Seung-Tae; Jeong, Kwang-Eun; Jeong, Soon-Yong; Ahn, Wha-Seung

2012-01-01

Graphical abstract: Display Omitted Highlights: ► Meso-TS-1 catalyst was synthesized using a SiO 2 –TiO 2 xerogel with an organosilane precursor. ► Hierarchical pore structure was confirmed by characterization of the materials. ► Catalytic activity was tested using oxidative desulfurization of the model sulfur compounds. ► Meso-TS-1 demonstrated significantly improved catalytic activity than TS-1. -- Abstract: Mesoporous TS-1 (M-TS-1) was synthesized using a hybrid SiO 2 –TiO 2 xerogel combined with an organosilane precursor. Prepared samples were characterized by XRD, UV–vis spectroscopy, SEM, and N 2 adsorption–desorption measurement. M-TS-1, prepared in 2 days, showed high crystallinity and the best textural properties among the samples. The N 2 adsorption–desorption isotherms of M-TS-1 exhibited a hysteresis loop at pressure higher than P/P 0 = 0.4, clearly indicating the existence of mesopores. M-TS-1 has significantly larger mesopore volume (0.48 cm 3 /g) than that of conventional TS-1 (0.07 cm 3 /g), and showed a narrow peak centered at ca. 6.3 nm. In the oxidative desulfurization reaction, M-TS-1 was more active than conventional TS-1 at the same Ti-loading; M-TS-1 produced a dibenzothiophene (DBT) conversion of 96%, whereas conventional TS-1 produced a final DBT conversion of 5.6% after a reaction time of 180 min. Oxidative desulfurization over TS-1 was influenced both by electron density and steric hindrance in the sulfur compounds tested.
Genome-wide association study of Tourette Syndrome

Science.gov (United States)

Scharf, Jeremiah M.; Yu, Dongmei; Mathews, Carol A.; Neale, Benjamin M.; Stewart, S. Evelyn; Fagerness, Jesen A; Evans, Patrick; Gamazon, Eric; Edlund, Christopher K.; Service, Susan; Tikhomirov, Anna; Osiecki, Lisa; Illmann, Cornelia; Pluzhnikov, Anna; Konkashbaev, Anuar; Davis, Lea K; Han, Buhm; Crane, Jacquelyn; Moorjani, Priya; Crenshaw, Andrew T.; Parkin, Melissa A.; Reus, Victor I.; Lowe, Thomas L.; Rangel-Lugo, Martha; Chouinard, Sylvain; Dion, Yves; Girard, Simon; Cath, Danielle C; Smit, Jan H; King, Robert A.; Fernandez, Thomas; Leckman, James F.; Kidd, Kenneth K.; Kidd, Judith R.; Pakstis, Andrew J.; State, Matthew; Herrera, Luis Diego; Romero, Roxana; Fournier, Eduardo; Sandor, Paul; Barr, Cathy L; Phan, Nam; Gross-Tsur, Varda; Benarroch, Fortu; Pollak, Yehuda; Budman, Cathy L.; Bruun, Ruth D.; Erenberg, Gerald; Naarden, Allan L; Lee, Paul C; Weiss, Nicholas; Kremeyer, Barbara; Berrío, Gabriel Bedoya; Campbell, Desmond; Silgado, Julio C. Cardona; Ochoa, William Cornejo; Restrepo, Sandra C. Mesa; Muller, Heike; Duarte, Ana V. Valencia; Lyon, Gholson J; Leppert, Mark; Morgan, Jubel; Weiss, Robert; Grados, Marco A.; Anderson, Kelley; Davarya, Sarah; Singer, Harvey; Walkup, John; Jankovic, Joseph; Tischfield, Jay A.; Heiman, Gary A.; Gilbert, Donald L.; Hoekstra, Pieter J.; Robertson, Mary M.; Kurlan, Roger; Liu, Chunyu; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Strengman, Eric; Ophoff, Roel; Wagner, Michael; Moessner, Rainald; Mirel, Daniel B.; Posthuma, Danielle; Sabatti, Chiara; Eskin, Eleazar; Conti, David V.; Knowles, James A.; Ruiz-Linares, Andres; Rouleau, Guy A.; Purcell, Shaun; Heutink, Peter; Oostra, Ben A.; McMahon, William; Freimer, Nelson; Cox, Nancy J.; Pauls, David L.

2012-01-01

Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder. PMID:22889924
Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

African Journals Online (AJOL)

Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...
Ward Round - Late Presentation of Acute Compartment Syndrome in ...

African Journals Online (AJOL)

following the course of ibuprofen mentioned. Twelve days after admission he started to complain of increasing pain and tightness in his left thigh. Sensation and motor function. Ward Round - Late Presentation of Acute. Compartment Syndrome in the Thigh. University of Malawi, College of Medicine, Department of Surgery,.
TS-EUROTRAIN : A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of de la Tourtte Syndrome

NARCIS (Netherlands)

Forde, Natalie J.; Kanaan, Ahmad S.; Widomska, Joanna; Padmanabhuni, Shanmukha S.; Nespoli, Ester; Alexander, John; Arranz, Juan I. Rodriguez; Fan, Siyan; Houssari, Rayan; Nawaz, Muhammad S.; Rizzo, Francesca; Pagliaroli, Luca; Zilhao, Nuno R.; Aranyi, Tamas; Barta, Csaba; Boeckers, Tobias M.; Boomsma, Dorret I.; Buisman, Wim R.; Buitelaar, Jan K.; Cath, Danielle; Dietrich, Andrea; Driessen, Nicole; Drineas, Petros; Dunlap, Michelle; Gerasch, Sarah; Glennon, Jeffrey; Hengerer, Bastian; van den Heuvel, Odile A.; Jespersgaard, Cathrine; Moeller, Harald E.; Mueller-Vahl, Kirsten R.; Openneer, Thaira J. C.; Poelmans, Geert; Pouwels, Petra J. W.; Scharf, Jeremiah M.; Stefansson, Hreinn; Tumer, Zeynep; Veltman, Dick J.; van der werf, Ysbrand D.; Hoekstra, Pieter J.; Ludolph, Andrea; Paschou, Peristera

2016-01-01

Gilles de la Tourette Syndrome (GTS) is characterized by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency, and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD), and

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