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Sample records for regulates endocycle onset

  1. Endocycling cells do not apoptose in response to DNA rereplication genotoxic stress.

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    Mehrotra, Sonam; Maqbool, Shahina B; Kolpakas, Alexis; Murnen, Katherine; Calvi, Brian R

    2008-11-15

    Initiation of DNA replication at origins more than once per cell cycle results in rereplication and has been implicated in cancer. Here we use Drosophila to examine the checkpoint responses to rereplication in a developmental context. We find that increased Double-parked (Dup), the Drosophila ortholog of Cdt1, results in rereplication and DNA damage. In most cells, this rereplication triggers caspase activation and apoptotic cell death mediated by both p53-dependent and -independent pathways. Elevated Dup also caused DNA damage in endocycling cells, which switch to a G/S cycle during normal development, indicating that rereplication and the endocycling DNA reduplication program are distinct processes. Unexpectedly, however, endocycling cells do not apoptose regardless of tissue type. Our combined evidence suggests that endocycling apoptosis is repressed in part because proapoptotic gene promoters are silenced. Normal endocycling cells had DNA lesions near heterochromatin, which increased after rereplication, explaining why endocycling cells must constantly repress the genotoxic apoptotic response. Our results reveal a novel regulation of apoptosis in development and new insights into the little-understood endocycle. Similar mechanisms may operate during vertebrate development, with implications for cancer predisposition in certain tissues.

  2. The events and regulation of anaphase onset

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    Sluder, G. [Worcester Foundation for Experimental Biology, Shrewsbury, MA (United States); Rieder, C.L. [Wadsworth Center for Laboratories and Research, Albany, NY (United States)

    1993-12-31

    Aneuploidy results from the malsegregation of one or more chromosomes during mitosis or meiosis. It can occur from the non-disjunction of a chromosome, the complete failure of a chromosome to attach to the spindle, the assembly of a multipolar spindle, or the failure of a mono-oriented chromosome to achieve a bipolar attachment prior to chromatid disjunction. Given that aneuploidy has serious, often lethal, consequences for the individual organism, fidelity of chromosome distribution during cell division is of obvious importance. Cells must not only regulate the spatial arrangement and distribution of chromosomes to ensure their equal partition but also tightly coordinate the start of poleward chromosome movements in mitosis with the concurrent orderly return to interphase. Anaphase onset is commonly defined as that point during mitosis and meiosis when the sister chromatids (or meiosis I bivalents) aligned on the spindle equator separate or {open_quotes}disjoin{close_quotes} from each other and start moving towards opposite spindle poles. It represents the culmination of the many preparations for division and the start of the actual partition of the cell. However, there is much more to anaphase onset than just meets the eye. Anaphase onset for the chromosomes is coincident with the metaphase-anaphase transition point in the cell cycle that triggers the events that finish mitosis (or meiosis) and return the cell to interphase. In this chapter we briefly review anaphase onset from the standpoint of both chromosomal events and cell cycle progression. We then outline the interrelationship between these two processes, and what little is known about the mechanisms that control them, without pretense of providing a complete review of the several active areas of research involved.

  3. Indispensable pre-mitotic endocycles promote aneuploidy in the Drosophila rectum.

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    Schoenfelder, Kevin P; Montague, Ruth A; Paramore, Sarah V; Lennox, Ashley L; Mahowald, Anthony P; Fox, Donald T

    2014-09-01

    The endocycle is a modified cell cycle that lacks M phase. Endocycles are well known for enabling continued growth of post-mitotic tissues. By contrast, we discovered pre-mitotic endocycles in precursors of Drosophila rectal papillae (papillar cells). Unlike all known proliferative Drosophila adult precursors, papillar cells endocycle before dividing. Furthermore, unlike diploid mitotic divisions, these polyploid papillar divisions are frequently error prone, suggesting papillar structures may accumulate long-term aneuploidy. Here, we demonstrate an indispensable requirement for pre-mitotic endocycles during papillar development and also demonstrate that such cycles seed papillar aneuploidy. We find blocking pre-mitotic endocycles disrupts papillar morphogenesis and causes organismal lethality under high-salt dietary stress. We further show that pre-mitotic endocycles differ from post-mitotic endocycles, as we find only the M-phase-capable polyploid cells of the papillae and female germline can retain centrioles. In papillae, this centriole retention contributes to aneuploidy, as centrioles amplify during papillar endocycles, causing multipolar anaphase. Such aneuploidy is well tolerated in papillae, as it does not significantly impair cell viability, organ formation or organ function. Together, our results demonstrate that pre-mitotic endocycles can enable specific organ construction and are a mechanism that promotes highly tolerated aneuploidy. © 2014. Published by The Company of Biologists Ltd.

  4. Bioactive heterocycles containing endocyclic N-hydroxy groups.

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    Rani, Reshma; Granchi, Carlotta

    2015-06-05

    Drug-likeness rules consider N-O single bonds as "structural alerts" which should not be present in a perspective drug candidate. In most cases this concern is correct, since it is known that N-hydroxy metabolites of branded drugs produce reactive species that cause serious side effects. However, this dangerous reactivity of the N-OH species generally takes place when the nitrogen atom is not comprised in a cyclic moiety. In fact, the same type of metabolic behavior should not be expected when the nitrogen atom is included in the ring of an aromatic heterocyclic scaffold. Nevertheless, heterocycles bearing endocyclic N-hydroxy portions have so far been poorly studied as chemical classes that may provide new therapeutic agents. This review provides an overview of N-OH-containing heterocycles with reported bioactivities that may be considered as therapeutically relevant and, therefore, may extend the chemical space available for the future development of novel pharmaceuticals. A systematic treatment of the various chemical classes belonging to this particular family of molecules is described along with a discussion of the biological activities associated to the most important examples.

  5. Drosophila DH31 Neuropeptide and PDF Receptor Regulate Night-Onset Temperature Preference.

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    Goda, Tadahiro; Tang, Xin; Umezaki, Yujiro; Chu, Michelle L; Hamada, Fumika N

    2016-11-16

    Body temperature exhibits rhythmic fluctuations over a 24 h period (Refinetti and Menaker, 1992) and decreases during the night, which is associated with sleep initiation (Gilbert et al., 2004; Kräuchi, 2007a,b). However, the underlying mechanism of this temperature decrease is largely unknown. We have previously shown that Drosophila exhibit a daily temperature preference rhythm (TPR), in which their preferred temperatures increase during the daytime and then decrease at the transition from day to night (night-onset) (Kaneko et al., 2012). Because Drosophila are small ectotherms, their body temperature is very close to that of the ambient temperature (Stevenson, 1985), suggesting that their TPR generates their body temperature rhythm. Here, we demonstrate that the neuropeptide diuretic hormone 31 (DH31) and pigment-dispersing factor receptor (PDFR) contribute to regulate the preferred temperature decrease at night-onset. We show that PDFR and tethered-DH31 expression in dorsal neurons 2 (DN2s) restore the preferred temperature decrease at night-onset, suggesting that DH31 acts on PDFR in DN2s. Notably, we previously showed that the molecular clock in DN2s is important for TPR. Although PDF (another ligand of PDFR) is a critical factor for locomotor activity rhythms, Pdf mutants exhibit normal preferred temperature decreases at night-onset. This suggests that DH31-PDFR signaling specifically regulates a preferred temperature decrease at night-onset. Thus, we propose that night-onset TPR and locomotor activity rhythms are differentially controlled not only by clock neurons but also by neuropeptide signaling in the brain. Body temperature rhythm (BTR) is fundamental for the maintenance of functions essential for homeostasis, such as generating metabolic energy and sleep. One major unsolved question is how body temperature decreases dramatically during the night. Previously, we demonstrated that a BTR-like mechanism, referred to as temperature preference rhythm (TPR

  6. Unlike in Drosophila Meroistic Ovaries, hippo represses notch in Blattella germanica Panoistic ovaries, triggering the mitosis-endocycle switch in the follicular cells.

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    Paula Irles

    Full Text Available During insect oogenesis, the follicular epithelium undergoes both cell proliferation and apoptosis, thus modulating ovarian follicle growth. The Hippo pathway is key in these processes, and has been thoroughly studied in the meroistic ovaries of Drosophila melanogaster. However, nothing is known about the role of the Hippo pathway in primitive panoistic ovaries. This work examines the mRNA expression levels of the main components of the Hippo pathway in the panoistic ovary of the basal insect species Blattella germanica, and demonstrates the function of Hippo through RNAi. In Hippo-depleted specimens, the follicular cells of the basal ovarian follicles proliferate without arresting cytokinesis; the epithelium therefore becomes bilayered, impairing ovarian follicle growth. This phenotype is accompanied by long stalks between the ovarian follicles. In D. melanogaster loss of function of Notch determines that the stalk is not developed. With this in mind, we tested whether Hippo and Notch pathways are related in B. germanica. In Notch (only-depleted females, no stalks were formed between the ovarian follicles. Simultaneous depletion of Hippo and Notch rescued partially the stalk to wild-type. Unlike in the meroistic ovaries of D. melanogaster, in panoistic ovaries the Hippo pathway appears to regulate follicular cell proliferation by acting as a repressor of Notch, triggering the switch from mitosis to the endocycle in the follicular cells. The phylogenetically basal position of B. germanica suggests that this might be the ancestral function of Hippo in insect ovaries.

  7. Gold-Catalyzed Ring Expansion of Alkynyl Heterocycles through 1,2-Migration of an Endocyclic Carbon-Heteroatom Bond.

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    Chen, Ming; Sun, Ning; Xu, Wei; Zhao, Jidong; Wang, Gaonan; Liu, Yuanhong

    2015-12-14

    A mild and efficient gold-catalyzed oxidative ring-expansion of a series of alkynyl heterocycles using pyridine-N-oxide as the oxidant has been developed, which affords highly valuable six- or seven-membered heterocycles with wide functional group toleration. The reaction consists of a regioselective oxidation and a chemoselective migration of an endocyclic carbon-heteroatom bond (favored over C-H migration) with the order of migratory aptitude for carbon-heteroatom bonds being C-S>C-N>C-O. In the absence of an oxidant, polycyclic products are readily constructed through a ring-expansion/Nazarov cyclization reaction sequence.

  8. Itga2b regulation at the onset of definitive hematopoiesis and commitment to differentiation.

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    Stephanie Dumon

    Full Text Available Product of the Itga2b gene, CD41 contributes to hematopoietic stem cell (HSC and megakaryocyte/platelet functions. CD41 expression marks the onset of definitive hematopoiesis in the embryo where it participates in regulating the numbers of multipotential progenitors. Key to platelet aggregation, CD41 expression also characterises their precursor, the megakaryocyte, and is specifically up regulated during megakaryopoiesis. Though phenotypically unique, megakaryocytes and HSC share numerous features, including key transcription factors, which could indicate common sub-regulatory networks. In these respects, Itga2b can serve as a paradigm to study features of both developmental-stage and HSC- versus megakaryocyte-specific regulations. By comparing different cellular contexts, we highlight a mechanism by which internal promoters participate in Itga2b regulation. A developmental process connects epigenetic regulation and promoter switching leading to CD41 expression in HSC. Interestingly, a similar process can be observed at the Mpl locus, which codes for another receptor that defines both HSC and megakaryocyte identities. Our study shows that Itga2b expression is controlled by lineage-specific networks and associates with H4K8ac in megakaryocyte or H3K27me3 in the multipotential hematopoietic cell line HPC7. Correlating with the decrease in H3K27me3 at the Itga2b Iocus, we find that following commitment to megakaryocyte differentiation, the H3K27 demethylase Jmjd3 up-regulation influences both Itga2b and Mpl expression.

  9. Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα.

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    Komatsu, Michiharu; Kimura, Takefumi; Yazaki, Masahide; Tanaka, Naoki; Yang, Yang; Nakajima, Takero; Horiuchi, Akira; Fang, Zhong-Ze; Joshita, Satoru; Matsumoto, Akihiro; Umemura, Takeji; Tanaka, Eiji; Gonzalez, Frank J; Ikeda, Shu-Ichi; Aoyama, Toshifumi

    2015-03-01

    SLC25A13 (citrin or aspartate-glutamate carrier 2) is located in the mitochondrial membrane in the liver and its genetic deficiency causes adult-onset type II citrullinemia (CTLN2). CTLN2 is one of the urea cycle disorders characterized by sudden-onset hyperammonemia due to reduced argininosuccinate synthase activity. This disorder is frequently accompanied with hepatosteatosis in the absence of obesity and ethanol consumption. However, the precise mechanism of steatogenesis remains unclear. The expression of genes associated with fatty acid (FA) and triglyceride (TG) metabolism was examined using liver samples obtained from 16 CTLN2 patients and compared with 7 healthy individuals. Although expression of hepatic genes associated with lipogenesis and TG hydrolysis was not changed, the mRNAs encoding enzymes/proteins involved in FA oxidation (carnitine palmitoyl-CoA transferase 1α, medium- and very-long-chain acyl-CoA dehydrogenases, and acyl-CoA oxidase 1), very-low-density lipoprotein secretion (microsomal TG transfer protein), and FA transport (CD36 and FA-binding protein 1), were markedly suppressed in CTLN2 patients. Serum concentrations of ketone bodies were also decreased in these patients, suggesting reduced mitochondrial β-oxidation activity. Consistent with these findings, the expression of peroxisome proliferator-activated receptor α (PPARα), a master regulator of hepatic lipid metabolism, was significantly down-regulated. Hepatic PPARα expression was inversely correlated with severity of steatosis and circulating ammonia and citrulline levels. Additionally, phosphorylation of c-Jun-N-terminal kinase was enhanced in CTLN2 livers, which was likely associated with lower hepatic PPARα. Collectively, down-regulation of PPARα is associated with steatogenesis in CTLN2 patients. These findings provide a novel link between urea cycle disorder, lipid metabolism, and PPARα.

  10. NAD+ Accumulation during Pollen Maturation in Arabidopsis Regulating Onset of Germination

    Institute of Scientific and Technical Information of China (English)

    Shin-nosuke Hashida; Hideyuki Takahashi; Kentaro Takahara; Maki Kawai-Yamada; Kazuyoshi Kitazaki; Kazuhiro Shoji; Fumiyuki Goto

    2013-01-01

    Although the nicotinamide nucleotides NAD(H) and NADP(H) are essential for various metabolic reactions that play major roles in maintenance of cellular homeostasis,the significance of NAD biosynthesis is not well understood.Here,we investigated the dynamics of pollen nicotinamide nucleotides in response to imbibition,a representative germination cue.Metabolic analysis with capillary electrophoresis electrospray ionization mass spectrometry revealed that excess amount of NAD+ is accumulated in freshly harvested dry pollen,whereas it dramatically decreased immediately after contact with water.Importantly,excess of NAD+ impaired pollen tube growth.Moreover,NAD+ accumulation was retained after pollen was imbibed in the presence of NAD+-consuming reaction inhibitors and pollen germination was greatly retarded.Pollen deficient in the nicotinate/nicotinamide mononucleotide adenyltransferase (NMNAT) gene,encoding a key enzyme in NAD biosynthesis,and a lack of NAD+ accumulation in the gametophyte,showed precocious pollen tube germination inside the anther Iocule and vigorous tube growth under high-humidity conditions.Hence,the accumulation of excess NAD+ is not essential for pollen germination,but instead participates in regulating the timing of germination onset.These results indicate that NAD+ accumulation acts to negatively regulate germination and a decrease in NAD+ plays an important role in metabolic state transition.

  11. Osteoprotegerin is up-regulated in pancreatic cancers and correlates with cancer-associated new-onset diabetes.

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    Shi, Wanchun; Qiu, Wei; Wang, Wenhua; Zhou, Xiaohui; Zhong, Xiaojing; Tian, Gang; Deng, Anmei

    2014-12-01

    New-onset diabetes might help to yield biomarkers for the early diagnosis of pancreatic cancer (PaC). In this study, we computationally predicted and experimentally validated osteoprotegerin (OPG) being associated with pancreatic cancer related new-onset diabetes. We first performed a meta-analysis on microarray datasets to search for genes specifically highly expressed in PaC, and then filtered for cytokines involved in islet dysfunction. The expression of OPG in PaC and normal pancreas were validated by immunohistochemistry. Serum OPG levels in healthy controls, non-cancerous diabetes and PaC patients with or without diabetes were detected by enzyme-linked immunosorbent assay (ELISA). In silico assay found that OPG up-regulated in PaC tissues in comparison to normal pancreas. Immunohistochemical data further confirmed that OPG was overexpressed in PaC samples. Furthermore, increased expression of OPG in PaC tissues correlated to the occurrence of new-onset diabetes, and adversely affected the patients' overall survival in both univariate and multivariate analysis. In addition, the serum levels of OPG were significantly higher in pancreatic cancer patients with new-onset diabetes than other groups including pancreatic patients without diabetes, new-onset type 2 diabetes and healthy controls. In conclusion, there is a close association between OPG and pancreatic cancer related new-onset diabetes, and OPG might serve as a potential biomarker for the early diagnosis of pancreatic cancer from populations with new-onset diabetes.

  12. Effects of chemical complexity on the autoxidation mechanisms of endocyclic alkene ozonolysis products: from methylcyclohexenes toward understanding α-pinene.

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    Rissanen, Matti P; Kurtén, Theo; Sipilä, Mikko; Thornton, Joel A; Kausiala, Oskari; Garmash, Olga; Kjaergaard, Henrik G; Petäjä, Tuukka; Worsnop, Douglas R; Ehn, Mikael; Kulmala, Markku

    2015-05-14

    Formation of highly oxidized, multifunctional products in the ozonolysis of three endocyclic alkenes, 1- methylcyclohexene, 4-methylcyclohexene, and α-pinene, was investigated using a chemical ionization atmospheric pressure interface time-of-flight (CI-APi-TOF) mass spectrometer with a nitrate ion (NO3(-)) based ionization scheme. The experiments were performed in borosilicate glass flow tube reactors at room temperature (T = 293 ± 3 K) and at ambient pressure. An ensemble of oxidized monomer and dimer products was detected, with elemental compositions obtained from the high-resolution mass spectra. The monomer product distributions have O/C ratios from 0.8 to 1.6 and can be explained with an autocatalytic oxidation mechanism (=autoxidation) where the oxygen-centered peroxy radical (RO2) intermediates internally rearrange by intramolecular hydrogen shift reactions, enabling more oxygen molecules to attach to the carbon backbone. Dimer distributions are proposed to form by homogeneous peroxy radical recombination and cross combination reactions. These conclusions were supported by experiments where H atoms were exchanged to D atoms by addition of D2O to the carrier gas flow. Methylcyclohexenes were observed to autoxidize in accordance with our previous work on cyclohexene, whereas in α-pinene ozonolysis different mechanistic steps are needed to explain the products observed.

  13. Hormonal regulation of puberty onset in female rats: is leptin a missing link?

    NARCIS (Netherlands)

    Zeinoaldini, S.

    2005-01-01

    Numerous factors in the hypothalamus-pituitary-gonadal axis (HPG) are involved in the timing of puberty onset.Leptin signals the nutritional status and the presence of an adequate amount of loaded adipose tissue, as a long-term resour

  14. Hormonal regulation of puberty onset in female rats: is leptin a missing link?

    NARCIS (Netherlands)

    Zeinoaldini, S.

    2005-01-01

    Numerous factors in the hypothalamus-pituitary-gonadal axis (HPG) are involved in the timing of puberty onset.Leptin signals the nutritional status and the presence of an adequate amount of loaded adipose tissue, as a long-term resour

  15. Neural histamine in the tuberomammillary nucleus regulates the onset of neurogenic pulmonary edema in rabbits

    Institute of Scientific and Technical Information of China (English)

    Rong Dong; Xiaohong Zhang; Lijuan Shi

    2009-01-01

    Objective:To explore the effect of neural histamine in the tuberomammillary nucleus(TM) on neurogenic pulmonary edema (NPE) onset in rabbits and the function of the rostral ventrolateral medulla(RVLM) in the neural histamine modulation of NPE.Methods:NPE was produced by the intracisternal injections of fibrinogen and thrombin.The contents of histamine in the TM and RVLM in rabbits were measured with high performance liquid chromatography(HPLC).Rabbits were placed on a stereotaxic frame and microinjection cannulae were inserted into the TM and RVLM using brain atlas coordinates.Animals were pretreated with R-α-methylhistamine(MeHA) in the TM and chlorphenamine Mmaleate/cimetidine in the RVLM prior to establishing the NPE model.Changes in the lung water ratio and mean arterial pressure(MAP) were recorded,and paraffin sections of lung tissue were observed by light microscope.Results:We found that the contents of histamine(HA) in the TM and RVLM increased significantly with the onset of NPE.Pretreatment with MeHA in the TM and chlorphenamine Mmaleate in the RVLM significantly decreased MAP,and the lung water ratio and histological characteristics of the NPE in the rabbit model.Pretreatment with cimetidine in the RVLM had no effect on NPE.Conculsion:The results suggest that neural histamine in the TM is involved in the onset of NPE,and this effect of neural histamine is mediated by H receptor in the RVLM.

  16. The regulatory beta-subunit of protein kinase CK2 regulates cell-cycle progression at the onset of mitosis

    DEFF Research Database (Denmark)

    Yde, C W; Olsen, B B; Meek, D

    2008-01-01

    Cell-cycle transition from the G(2) phase into mitosis is regulated by the cyclin-dependent protein kinase 1 (CDK1) in complex with cyclin B. CDK1 activity is controlled by both inhibitory phosphorylation, catalysed by the Myt1 and Wee1 kinases, and activating dephosphorylation, mediated by the CDC...... interference results in delayed cell-cycle progression at the onset of mitosis. Knockdown of CK2beta causes stabilization of Wee1 and increased phosphorylation of CDK1 at the inhibitory Tyr15. PLK1-Wee1 association is an essential event in the degradation of Wee1 in unperturbed cell cycle. We have found...... regulatory subunit, identifying it as a new component of signaling pathways that regulate cell-cycle progression at the entry of mitosis.Oncogene advance online publication, 12 May 2008; doi:10.1038/onc.2008.146....

  17. A mechanism regulating the onset of Sox2 expression in the embryonic neural plate.

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    Costis Papanayotou

    2008-01-01

    Full Text Available In vertebrate embryos, the earliest definitive marker for the neural plate, which will give rise to the entire central nervous system, is the transcription factor Sox2. Although some of the extracellular signals that regulate neural plate fate have been identified, we know very little about the mechanisms controlling Sox2 expression and thus neural plate identity. Here, we use electroporation for gain- and loss-of-function in the chick embryo, in combination with bimolecular fluorescence complementation, two-hybrid screens, chromatin immunoprecipitation, and reporter assays to study protein interactions that regulate expression of N2, the earliest enhancer of Sox2 to be activated and which directs expression to the largest part of the neural plate. We show that interactions between three coiled-coil domain proteins (ERNI, Geminin, and BERT, the heterochromatin proteins HP1alpha and HP1gamma acting as repressors, and the chromatin-remodeling enzyme Brm acting as activator control the N2 enhancer. We propose that this mechanism regulates the timing of Sox2 expression as part of the process of establishing neural plate identity.

  18. Differential Transcriptional Regulation in Roots of Tomato Near-Isogenic Lines in Response to Rapid-Onset Water Stress

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    Arms, Erin M.; Yan, Zhanghang; St.Clair, Dina A.

    2017-01-01

    Cultivated tomato (Solanum lycopersicum L.) is susceptible to abiotic stresses, including drought and chilling stress, while its wild relative (Solanum habrochaites) exhibits tolerance to many abiotic stresses. Chilling roots to 6°C induces rapid-onset water stress by impeding water movement from roots to shoots. Wild S. habrochaites responds to root chilling by closing stomata and maintaining shoot turgor, while cultivated tomato fails to close stomata and wilts. This phenotypic response (shoot turgor maintenance under root chilling) is controlled by a major QTL stm9 on chromosome 9 from S. habrochaites that was previously high-resolution mapped to a 0.32 cM region, but its effects on transcriptional regulation were unknown. Here we used paired near isogenic lines (NILs) differing only for the presence or absence of the S. habrochaites introgression containing stm9 in an otherwise S. lycopersicum background to investigate global transcriptional regulation in response to rapid-onset water stress induced by root chilling. NIL175 contains the S. habrochaites introgression and exhibits tolerance to root chilling stress, while NIL163 does not contain the introgression and is susceptible. RNA from roots of the two NILs was obtained at five time points during exposure to root chilling and mRNA-Seq performed. Differential expression analysis and hierarchical clustering of transcript levels were used to determine patterns of and changes in mRNA levels. Our results show that the transcriptional response of roots exposed to chilling stress is complex, with both overlapping and unique responses in tolerant and susceptible lines. In general, susceptible NIL 163 had a more complex transcriptional response to root chilling, while NIL175 exhibited a more targeted response to the imposed stress. Our evidence suggests that both the tolerant and susceptible NILs may be primed for response to root-chilling, with many of these response genes located on chromosome 9. Furthermore

  19. Abscisic Acid Is a Major Regulator of Grape Berry Ripening Onset: New Insights into ABA Signaling Network

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    Stefania Pilati

    2017-06-01

    Full Text Available Grapevine is a world-wide cultivated economically relevant crop. The process of berry ripening is non-climacteric and does not rely on the sole ethylene signal. Abscisic acid (ABA is recognized as an important hormone of ripening inception and color development in ripening berries. In order to elucidate the effect of this signal at the molecular level, pre-véraison berries were treated ex vivo for 20 h with 0.2 mM ABA and berry skin transcriptional modulation was studied by RNA-seq after the treatment and 24 h later, in the absence of exogenous ABA. This study highlighted that a small amount of ABA triggered its own biosynthesis and had a transcriptome-wide effect (1893 modulated genes characterized by the amplification of the transcriptional response over time. By comparing this dataset with the many studies on ripening collected within the grapevine transcriptomic compendium Vespucci, an extended overlap between ABA- and ripening modulated gene sets was observed (71% of the genes, underpinning the role of this hormone in the regulation of berry ripening. The signaling network of ABA, encompassing ABA metabolism, transport and signaling cascade, has been analyzed in detail and expanded based on knowledge from other species in order to provide an integrated molecular description of this pathway at berry ripening onset. Expression data analysis was combined with in silico promoter analysis to identify candidate target genes of ABA responsive element binding protein 2 (VvABF2, a key upstream transcription factor of the ABA signaling cascade which is up-regulated at véraison and also by ABA treatments. Two transcription factors, VvMYB143 and VvNAC17, and two genes involved in protein degradation, Armadillo-like and Xerico-like genes, were selected for in vivo validation by VvABF2-mediated promoter trans-activation in tobacco. VvNAC17 and Armadillo-like promoters were induced by ABA via VvABF2, while VvMYB143 responded to ABA in a VvABF2

  20. Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus

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    Lekva, Tove; Lyle, Robert; Roland, Marie Cecilie Paasche; Friis, Camilla; Bianchi, Diana W.; Jaffe, Iris Z.; Norwitz, Errol R.; Bollerslev, Jens; Henriksen, Tore; Ueland, Thor

    2016-01-01

    Pre-eclampsia (PE) and gestational diabetes mellitus (GDM) are common complications of pregnancy, but the mechanisms underlying these disorders remain unclear. The aim was to identify the extent of altered gene expression in term placentas from pregnant women with late-onset PE and GDM compared to controls. RNAseq identified few significantly differentially regulated genes in placental biopsies between PE, GDM, or uncomplicated pregnancy (n = 10 each group). Five genes were altered in placentas from PE including 4 non-coding genes and Angiopoietin 2 (ANGPT2). No genes were significantly regulated by GDM. In contrast, many genes were significantly regulated by fetal, maternal and delivery-specific variables, particularly spinal and epidural anesthesia. We selected ANGPT2 and Chemokine (C-X-C motif) ligand 14 (CXCL14) to test with qPCR in a larger set of placentas (n = 475) and found no differences between the groups. However, regression analysis revealed a stronger association between placental ANGPT2 and CXCL14 mRNA expression and fetal, maternal and delivery-specific variables than diagnostic group. To conclude, the gene expression in term placentas are highly affected by fetal, maternal and delivery specific variables. Few regulated genes were found in late-onset PE and GDM placentas, which may suggest that these conditions could be more affected by maternal factors. PMID:27405415

  1. Adrenergic regulation of HSL serine phosphorylation and activity in human skeletal muscle during the onset of exercise.

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    Talanian, Jason L; Tunstall, Rebecca J; Watt, Matthew J; Duong, Mylinh; Perry, Christopher G R; Steinberg, Gregory R; Kemp, Bruce E; Heigenhauser, George J F; Spriet, Lawrence L

    2006-10-01

    Skeletal muscle hormone-sensitive lipase (HSL) activity is increased by contractions and increases in blood epinephrine (EPI) concentrations and cyclic AMP activation of the adrenergic pathway during prolonged exercise. To determine the importance of hormonal stimulation of HSL activity during the onset of moderate- and high-intensity exercise, nine men [age 24.3 +/- 1.2 yr, 80.8 +/- 5.0 kg, peak oxygen consumption (VO2 peak) 43.9 +/- 3.6 ml x kg(-1) x min(-1)] cycled for 1 min at approximately 65% VO2 peak, rested for 60 min, and cycled at approximately 90% VO2 peak for 1 min. Skeletal muscle biopsies were taken pre- and postexercise, and arterial blood was sampled throughout exercise. Arterial EPI increased (P HSL activity increased (P HSL Ser660 phosphorylation (approximately 55% increase) and ERK1/2 phosphorylation ( approximately 33% increase) were augmented following exercise at both intensities, whereas HSL Ser563 and Ser565 phosphorylation were not different from rest. The results indicate that increases in arterial EPI concentration during the onset of moderate- and high-intensity exercise increase cyclic AMP content, which results in the phosphorylation of HSL Ser660. This adrenergic stimulation contributes to the increase in HSL activity that occurs in human skeletal muscle in the first minute of exercise at 65% and 90% VO2 peak.

  2. DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer.

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    Steven T Lott

    2009-05-01

    Full Text Available BACKGROUND: Breast cancer in young women tends to have a natural history of aggressive disease for which rates of recurrence are higher than in breast cancers detected later in life. Little is known about the genetic pathways that underlie early-onset breast cancer. Here we report the discovery of DEAR1 (ductal epithelium-associated RING Chromosome 1, a novel gene encoding a member of the TRIM (tripartite motif subfamily of RING finger proteins, and provide evidence for its role as a dominant regulator of acinar morphogenesis in the mammary gland and as an independent predictor of local recurrence-free survival in early-onset breast cancer. METHODS AND FINDINGS: Suppression subtractive hybridization identified DEAR1 as a novel gene mapping to a region of high-frequency loss of heterozygosity (LOH in a number of histologically diverse human cancers within Chromosome 1p35.1. In the breast epithelium, DEAR1 expression is limited to the ductal and glandular epithelium and is down-regulated in transition to ductal carcinoma in situ (DCIS, an early histologic stage in breast tumorigenesis. DEAR1 missense mutations and homozygous deletion (HD were discovered in breast cancer cell lines and tumor samples. Introduction of the DEAR1 wild type and not the missense mutant alleles to complement a mutation in a breast cancer cell line, derived from a 36-year-old female with invasive breast cancer, initiated acinar morphogenesis in three-dimensional (3D basement membrane culture and restored tissue architecture reminiscent of normal acinar structures in the mammary gland in vivo. Stable knockdown of DEAR1 in immortalized human mammary epithelial cells (HMECs recapitulated the growth in 3D culture of breast cancer cell lines containing mutated DEAR1, in that shDEAR1 clones demonstrated disruption of tissue architecture, loss of apical basal polarity, diffuse apoptosis, and failure of lumen formation. Furthermore, immunohistochemical staining of a tissue

  3. 动物性成熟启动的调控机理%Regulation Mechanism of Puberty Onset in Animals

    Institute of Scientific and Technical Information of China (English)

    韩威; 李慧芳; 朱云芬; 宋迟; 陶志云

    2012-01-01

    Precocious puberty was pathologic for humans, but was an important trait for animals. Onset of puberty was a complex biological process, and was under the control of HPG axis. Permissive signals and development clock provided the information on somatic growth, energy balance and environment changes, time the awakening of GnRH neurons that were quiescent during the prepubertal stage. The decrease in inhibition input and increase in excitation input led to high frequency GnRH pulse release, promoted the gametogenesis and gonadal steroid secretion. In turn, steroid hormones affected the GnRH release by negative feedback, and also promoted sexual behavior. In addition to GnRH neurons, the glial cells were also involved in puberty onset, mainly included growth factor families, the neural cell adhesion molecule and contactin. The epigenetic modulation of GnRH gene may play an important role in puberty onset.%人类的性早熟表现为病理状态,而在动物上,性早熟则是一个在生产上具有重要价值的经济性状.动物性成熟启动是一个复杂的生物学过程,受下丘脑—垂体—性腺轴调控.“允许信号”和“发育时钟”传达了机体生长发育、能量平衡和环境变化信息,决定了性成熟启动前期处于休眠状态的GnRH神经元激活;GnRH神经元抑制性输入减少和兴奋性输入增加引发了高频GnRH脉冲分泌,促进配子形成和性类固醇激素分泌;类固醇激素又通过负反馈通路影响GnRH分泌并促进性行为.神经胶质细胞也参与了性成熟的启动,主要涉及生长因子家族、神经细胞粘合分子和神经接触蛋白.GnRH基因的表观遗传修饰变化可能在动物性成熟启动过程中发挥了重要作用.

  4. Mechanisms affecting neuroendocrine and epigenetic regulation of body weight and onset of puberty: potential implications in the child born small for gestational age (SGA).

    Science.gov (United States)

    Roth, Christian L; Sathyanarayana, Sheela

    2012-06-01

    Signaling peptides produced in peripheral tissues such as gut, adipose tissue, and pancreas communicate with brain centers, such as hypothalamus and hindbrain to manage energy homeostasis. These regulatory mechanisms of energy intake and storage have evolved during long periods of hunger in the evolution of man to protect the species from extinction. It is now clear that these circuitries are influenced by prenatal and postnatal environmental factors including endocrine disruptive chemicals. Hypothalamic appetite regulatory systems develop and mature in utero and early infancy, and involve signaling pathways that are important also for the regulation of puberty onset. Recent studies in humans and animals have shown that metabolic pathways involved in regulation of growth, body weight gain and sexual maturation are largely affected by epigenetic programming that can impact both current and future generations. In particular, intrauterine and early infantile developmental phases of high plasticity are susceptible to factors that affect metabolic programming that therefore, affect metabolic function throughout life. In children born small for gestational age, poor nutritional conditions during gestation can modify metabolic systems to adapt to expectations of chronic undernutrition. These children are potentially poorly equipped to cope with energy-dense diets and are possibly programmed to store as much energy as possible, leading to later obesity, metabolic syndrome, disturbed regulation of normal puberty and early onset of cardiovascular disease. Most cases of disturbed energy balance are likely a result of a combination of genetics, epigenetics and environment. This review will discuss potential mechanisms linking intrauterine growth retardation with changes in growth, energy homeostasis and sexual maturation.

  5. Abrupt onset of mutations in a developmentally regulated gene during terminal differentiation of post-mitotic photoreceptor neurons in mice.

    Directory of Open Access Journals (Sweden)

    Ivette M Sandoval

    Full Text Available For sensitive detection of rare gene repair events in terminally differentiated photoreceptors, we generated a knockin mouse model by replacing one mouse rhodopsin allele with a form of the human rhodopsin gene that causes a severe, early-onset form of retinitis pigmentosa. The human gene contains a premature stop codon at position 344 (Q344X, cDNA encoding the enhanced green fluorescent protein (EGFP at its 3' end, and a modified 5' untranslated region to reduce translation rate so that the mutant protein does not induce retinal degeneration. Mutations that eliminate the stop codon express a human rhodopsin-EGFP fusion protein (hRho-GFP, which can be readily detected by fluorescence microscopy. Spontaneous mutations were observed at a frequency of about one per retina; in every case, they gave rise to single fluorescent rod cells, indicating that each mutation occurred during or after the last mitotic division. Additionally, the number of fluorescent rods did not increase with age, suggesting that the rhodopsin gene in mature rod cells is less sensitive to mutation than it is in developing rods. Thus, there is a brief developmental window, coinciding with the transcriptional activation of the rhodopsin locus, in which somatic mutations of the rhodopsin gene abruptly begin to appear.

  6. Onset of Quiescence Following p53 Mediated Down-Regulation of H2AX in Normal Cells

    Science.gov (United States)

    Inase, Aki; Shinohe, Keitaro; Yoshioka, Yoshiko; Shikanai, Mima; Ichijima, Yosuke; Unno, Junya; Mizutani, Shuki; Tsuchiya, Naoto; Hippo, Yoshitaka; Nakagama, Hitoshi; Masutani, Mitsuko; Teraoka, Hirobumi; Yoshioka, Ken-ichi

    2011-01-01

    Normal cells, both in vivo and in vitro, become quiescent after serial cell proliferation. During this process, cells can develop immortality with genomic instability, although the mechanisms by which this is regulated are unclear. Here, we show that a growth-arrested cellular status is produced by the down-regulation of histone H2AX in normal cells. Normal mouse embryonic fibroblast cells preserve an H2AX diminished quiescent status through p53 regulation and stable-diploidy maintenance. However, such quiescence is abrogated under continuous growth stimulation, inducing DNA replication stress. Because DNA replication stress-associated lesions are cryptogenic and capable of mediating chromosome-bridge formation and cytokinesis failure, this results in tetraploidization. Arf/p53 module-mutation is induced during tetraploidization with the resulting H2AX recovery and immortality acquisition. Thus, although cellular homeostasis is preserved under quiescence with stable diploidy, tetraploidization induced under growth stimulation disrupts the homeostasis and triggers immortality acquisition. PMID:21858116

  7. Onset of quiescence following p53 mediated down-regulation of H2AX in normal cells.

    Directory of Open Access Journals (Sweden)

    Yuko Atsumi

    Full Text Available Normal cells, both in vivo and in vitro, become quiescent after serial cell proliferation. During this process, cells can develop immortality with genomic instability, although the mechanisms by which this is regulated are unclear. Here, we show that a growth-arrested cellular status is produced by the down-regulation of histone H2AX in normal cells. Normal mouse embryonic fibroblast cells preserve an H2AX diminished quiescent status through p53 regulation and stable-diploidy maintenance. However, such quiescence is abrogated under continuous growth stimulation, inducing DNA replication stress. Because DNA replication stress-associated lesions are cryptogenic and capable of mediating chromosome-bridge formation and cytokinesis failure, this results in tetraploidization. Arf/p53 module-mutation is induced during tetraploidization with the resulting H2AX recovery and immortality acquisition. Thus, although cellular homeostasis is preserved under quiescence with stable diploidy, tetraploidization induced under growth stimulation disrupts the homeostasis and triggers immortality acquisition.

  8. Regulation of mitosis onset and thymidine kinase activity during the cell cycle of Physarum polycephalum plasmodia: effect of fluorodeoxyuridine.

    Science.gov (United States)

    Wright, M; Tollon, Y

    1989-05-01

    The effects of fluorodeoxyuridine were investigated during three events of the cell cycle: S-phase, mitosis, and the cyclic synthesis of thymidine kinase in the synchronous plasmodium of the myxomycete Physarum. DNA synthesis was inhibited, and there was limited action on other macromolecular syntheses. When DNA synthesis was slowed down, onset of the following increase of thymidine kinase synthesis occurred at approximately the same time as in the control, but mitosis was blocked in a very early prophase stage and metaphase was never observed. These effects were suppressed when the action of fluorodeoxyuridine was prevented by the addition of thymidine to the medium. In agreement with the action of aphidicolin and hydroxyurea, these observations show that: 1) perturbation of the S-phase does not prevent the nuclei from entering a very early prophase stage, but it does prevent them from proceeding through metaphase; 2) blockage of DNA synthesis does not perturb the normal timing of the triggering of thymidine kinase synthesis; and 3) the signal that triggers the arrest of thymidine kinase synthesis is postmitotic and does not require extensive DNA synthesis. In contrast with hydroxyurea and aphidicolin, in the presence of fluorodeoxyuridine metaphase was not observed. Thus, the triggering of thymidine kinase synthesis is unambiguously dissociated from metaphase and postmitotic events. Because synthesis of thymidine kinase remains under the control of temperature shifts from 22 to 32 degrees C, a simple model of the cell cycle involving two regulatory pathways could account for the triggering of thymidine kinase synthesis, early prophase stage, and metaphase.

  9. Does corticosterone regulate the onset of breeding in free-living birds?: The CORT-Flexibility Hypothesis and six potential mechanisms for priming corticosteroid function.

    Science.gov (United States)

    Lattin, Christine R; Breuner, Creagh W; Michael Romero, L

    2016-02-01

    For many avian species, the decision to initiate breeding is based on information from a variety of environmental cues, including photoperiod, temperature, food availability, and social interactions. There is evidence that the hormone corticosterone may be involved in delaying the onset of breeding in cases where supplemental cues, such as low food availability and inclement weather, indicate that the environment is not suitable. However, not all studies have found the expected relationships between breeding delays and corticosterone titers. In this review, we present the hypothesis that corticosterone physiology mediates flexibility in breeding initiation (the "CORT-Flexibility Hypothesis"), and propose six possible corticosterone-driven mechanisms in pre-breeding birds that may delay breeding initiation: altering hormone titers, negative feedback regulation, plasma binding globulin concentrations, intracellular receptor concentrations, enzyme activity and interacting hormone systems. Based on the length of the breeding season and species-specific natural history, we also predict variation in corticosterone-regulated pre-breeding flexibility. Although few studies thus far have examined mechanisms beyond plasma hormone titers, the CORT-Flexibility Hypothesis is grounded on a solid foundation of research showing seasonal variation in the physiological stress response and knowledge of physiological mechanisms modulating corticosteroid effects. We propose six possible mechanisms as testable and falsifiable predictions to help clarify the extent of HPA axis regulation of the initiation of breeding.

  10. The Early-Onset Myocardial Infarction Associated PHACTR1 Gene Regulates Skeletal and Cardiac Alpha-Actin Gene Expression.

    Directory of Open Access Journals (Sweden)

    Annina Kelloniemi

    Full Text Available The phosphatase and actin regulator 1 (PHACTR1 locus is a very commonly identified hit in genome-wide association studies investigating coronary artery disease and myocardial infarction (MI. However, the function of PHACTR1 in the heart is still unknown. We characterized the mechanisms regulating Phactr1 expression in the heart, used adenoviral gene delivery to investigate the effects of Phactr1 on cardiac function, and analyzed the relationship between MI associated PHACTR1 allele and cardiac function in human subjects. Phactr1 mRNA and protein levels were markedly reduced (60%, P<0.01 and 90%, P<0.001, respectively at 1 day after MI in rats. When the direct myocardial effects of Phactr1 were studied, the skeletal α-actin to cardiac α-actin isoform ratio was significantly higher (1.5-fold, P<0.05 at 3 days but 40% lower (P<0.05 at 2 weeks after adenovirus-mediated Phactr1 gene delivery into the anterior wall of the left ventricle. Similarly, the skeletal α-actin to cardiac α-actin ratio was lower at 2 weeks in infarcted hearts overexpressing Phactr1. In cultured neonatal cardiac myocytes, adenovirus-mediated Phactr1 overexpression for 48 hours markedly increased the skeletal α-actin to cardiac α-actin ratio, this being associated with an enhanced DNA binding activity of serum response factor. Phactr1 overexpression exerted no major effects on the expression of other cardiac genes or LV structure and function in normal and infarcted hearts during 2 weeks' follow-up period. In human subjects, MI associated PHACTR1 allele was not associated significantly with cardiac function (n = 1550. Phactr1 seems to regulate the skeletal to cardiac α-actin isoform ratio.

  11. De novo DNA Methyltransferases Dnmt3a and Dnmt3b regulate the onset of Igκ light chain rearrangement during early B-cell development.

    Science.gov (United States)

    Manoharan, Anand; Du Roure, Camille; Rolink, Antonius G; Matthias, Patrick

    2015-08-01

    Immunoglobulin genes V(D)J rearrangement during early lymphopoiesis is a critical process involving sequential recombination of the heavy and light chain loci. A number of transcription factors act together with temporally activated recombinases and chromatin accessibility changes to regulate this complex process. Here, we deleted the de novo DNA methyltransferases Dnmt3a and Dnmt3b in early B cells of conditionally targeted mice, and monitored the process of V(D)J recombination. Dnmt3a and Dnmt3b deletion resulted in precocious recombination of the immunoglobulin κ light chain without impairing the differentiation of mature B cells or overall B-cell development. Ex vivo culture of IL-7 restricted early B-cell progenitors lacking Dnmt3a and Dnmt3b showed precocious Vκ-Jκ rearrangements that are limited to the proximal Vκ genes. Furthermore, B-cell progenitors deficient in Dnmt3a and Dnmt3b showed elevated levels of germline transcripts at the proximal Vκ genes, alterations in methylation patterns at Igκ enhancer sites and increased expression of the transcription factor E2A. Our data suggest that Dnmt3a and Dnmt3b are critical to regulate the onset of Igκ light chain rearrangement during early B-cell development.

  12. Zebrafish eve1 regulates the lateral and ventral fates of mesodermal progenitor cells at the onset of gastrulation.

    Science.gov (United States)

    Seebald, Jamie L; Szeto, Daniel P

    2011-01-01

    Zebrafish eve1, a member of the even-skipped related gene family, is expressed initially in the animal pole of late blastula embryo and subsequently restricted to the ventral mesoderm of the gastrula embryo under the signaling control of bone morphogenetic protein (Bmp). Overexpression of eve1 in embryos results in similar ventralized phenotypes to that seen in embryos overexpressing Bmp, suggesting that Eve1 acts downstream of the Bmp signaling pathway to regulate the fate of mesodermal progenitor cells (MPCs). How eve1 functions in the normal development of MPCs is unknown. Using overexpression of a chimeric protein of Eve1 fused to the Gal4 activation domain and gene-knockdown approaches, we investigated the role of eve1 in MPC development of zebrafish embryos at early gastrulation. We find that Eve1 functions as a transcriptional repressor and is required for normal MPC development. The role of eve1 in MPCs requires the redundant and cooperative functions of Bmp-activated downstream homeobox genes, ved, vent and vox. Inhibition of eve1, ved, vent and vox in double and triple combinations results in dorsalized phenotypes. Furthermore, specific inhibition of eve1 and ved causes the expression of an ectopic patch of the brachyury ortholog no tail and leads to the formation of an ectopic tail. Our data show that Eve1 functions together with Ved, Vent and Vox in a transcriptional network to prevent the spread of anti-Bmp gene activity from the dorsal side, leading to the establishment of the Bmp gradient activity along the dorsoventral axis to induce distinct transcriptional outputs in MPCs to maintain the lateral and ventral MPC fates during gastrulation.

  13. Population-specific regulation of Chmp2b by Lbx1 during onset of synaptogenesis in lateral association interneurons.

    Directory of Open Access Journals (Sweden)

    Jun Xu

    Full Text Available Chmp2b is closely related to Vps2, a key component of the yeast protein complex that creates the intralumenal vesicles of multivesicular bodies. Dominant negative mutations in Chmp2b cause autophagosome accumulation and neurodegenerative disease. Loss of Chmp2b causes failure of dendritic spine maturation in cultured neurons. The homeobox gene Lbx1 plays an essential role in specifying postmitotic dorsal interneuron populations during late pattern formation in the neural tube. We have discovered that Chmp2b is one of the most highly regulated cell-autonomous targets of Lbx1 in the embryonic mouse neural tube. Chmp2b was expressed and depended on Lbx1 in only two of the five nascent, Lbx1-expressing, postmitotic, dorsal interneuron populations. It was also expressed in neural tube cell populations that lacked Lbx1 protein. The observed population-specific expression of Chmp2b indicated that only certain population-specific combinations of sequence specific transcription factors allow Chmp2b expression. The cell populations that expressed Chmp2b corresponded, in time and location, to neurons that make the first synapses of the spinal cord. Chmp2b protein was transported into neurites within the motor- and association-neuropils, where the first synapses are known to form between E11.5 and E12.5 in mouse neural tubes. Selective, developmentally-specified gene expression of Chmp2b may therefore be used to endow particular neuronal populations with the ability to mature dendritic spines. Such a mechanism could explain how mammalian embryos reproducibly establish the disynaptic cutaneous reflex only between particular cell populations.

  14. Regulation mechanism of uterine smooth muscle and labor onset%子宫平滑肌收缩调控机制与分娩启动

    Institute of Scientific and Technical Information of China (English)

    李乐赛; 周昌菊

    2011-01-01

    分娩启动是子宫由相对静止进入活跃状态的复杂过程,子宫平滑肌是其效应的靶器官,但其收缩机制尚未完全阐明,因而限制了临床处理及相关药物的开发.该文从子宫平滑肌细胞内收缩相关装置、经典电生理机制、细胞内的信号转导、钙敏感性理论、分娩启动相关膜蛋白的功能及变化等方面作以综述,以期了解调节子宫平滑肌收缩可能的分子机理,从而完善对妊娠子宫正常生理过程和常见病理状态的整体认识,也有助于对分娩、早产、产后出血等临床事件的预测和处理.%Onset of labor is a complex process of myometrial activation fiom quiescent pregnant state to active contractile state. The uterine smooth muscle plays an important role in this process, but the mechanism by which contraction is regulated is not fully clear so far.The goal of this review is to provide an overview of the molecular mechanism by which uterine contractility might be regulated, including the contractile apparatus, electrophysiology of uterine nyocytes, mechanism of calcium sensitization, contraction-associated proteins etc., thus provides better understanding of parturition, preterm labor and postpartum hemorrhage.

  15. Chronic Losartan Treatment Up-Regulates AT1R and Increases the Heart Vulnerability to Acute Onset of Ischemia and Reperfusion Injury in Male Rats.

    Science.gov (United States)

    Song, Minwoo A; Dasgupta, Chiranjib; Zhang, Lubo

    2015-01-01

    Inhibition of angiotensin II type 1 receptor (AT1R) is an important therapy in the management of hypertension, particularly in the immediate post-myocardial infarction period. Yet, the role of AT1R in the acute onset of myocardial ischemia and reperfusion injury still remains controversial. Thus, the present study determined the effects of chronic losartan treatment on heart ischemia and reperfusion injury in rats. Losartan (10 mg/kg/day) was administered to six-month-old male rats via an osmotic pump for 14 days and hearts were then isolated and were subjected to ischemia and reperfusion injury in a Langendorff preparation. Losartan significantly decreased mean arterial blood pressure. However, heart weight, left ventricle to body weight ratio and baseline cardiac function were not significantly altered by the losartan treatment. Of interest, chronic in vivo losartan treatment significantly increased ischemia-induced myocardial injury and decreased post-ischemic recovery of left ventricular function. This was associated with significant increases in AT1R and PKCδ expression in the left ventricle. In contrast, AT2R and PKCε were not altered. Furthermore, losartan treatment significantly increased microRNA (miR)-1, -15b, -92a, -133a, -133b, -210, and -499 expression but decreased miR-21 in the left ventricle. Of importance, addition of losartan to isolated heart preparations blocked the effect of increased ischemic-injury induced by in vivo chronic losartan treatment. The results demonstrate that chronic losartan treatment up-regulates AT1R/PKCδ and alters miR expression patterns in the heart, leading to increased cardiac vulnerability to ischemia and reperfusion injury.

  16. Adenosine A2A receptor regulates expression of vascular endothelial growth factor in feto-placental endothelium from normal and late-onset pre-eclamptic pregnancies.

    Science.gov (United States)

    Acurio, Jesenia; Herlitz, Kurt; Troncoso, Felipe; Aguayo, Claudio; Bertoglia, Patricio; Escudero, Carlos

    2017-03-01

    We aim to investigate whether A2A/nitric oxide-mediated regulation of vascular endothelial growth factor (VEGF) expression is impaired in feto-placental endothelial cells from late-onset pre-eclampsia. Cultures of human umbilical vein endothelial cells (HUVECs) and human placental microvascular endothelial cells (hPMECs) from normal and pre-eclamptic pregnancies were used. Assays by using small interference RNA (siRNA) for A2A were performed, and transfected cells were used for estimation of messenger RNA (mRNA) levels of VEGF, as well as for cell proliferation and angiogenesis in vitro. CGS-21680 (A2A agonist, 24 h) increases HUVEC and hPMEC proliferation in a dose response manner. Furthermore, similar to CGS-21680, the nitric oxide donor, S-nitroso-N-acetyl-penicillamine oxide (SNAP), increased cell proliferation in a dose response manner (logEC50 10(-9.2) M). In hPMEC, CGS-21680 increased VEGF protein levels in both normal (∼1.5-fold) and pre-eclamptic pregnancies (∼1.2-fold), an effect blocked by the A2A antagonist, ZM-241385 (10(-5) M) and the inhibitor of NO synthase, N ω-nitro-L-arginine methyl ester hydrochloride (L-NAME). Subsequently, SNAP partially recovered cell proliferation and in vitro angiogenesis capacity of cells from normal pregnancies exposed to siRNA for A2A. CGS-21680 also increased (∼1.5-fold) the level of VEGF mRNA in HUVEC from normal pregnancies, but not in pre-eclampsia. Additionally, transfection with siRNA for A2A decrease (∼30 %) the level of mRNA for VEGF in normal pregnancy compared to untransfected cells, an effect partially reversed by co-incubation with SNAP. The A2A-NO-VEGF pathway is present in endothelium from microcirculation and macrocirculation in both normal and pre-eclamptic pregnancies. However, NO signaling pathway seems to be impaired in HUVEC from pre-eclampsia.

  17. Cutaneous warming promotes sleep onset.

    Science.gov (United States)

    Raymann, Roy J E M; Swaab, Dick F; Van Someren, Eus J W

    2005-06-01

    Sleep occurs in close relation to changes in body temperature. Both the monophasic sleep period in humans and the polyphasic sleep periods in rodents tend to be initiated when core body temperature is declining. This decline is mainly due to an increase in skin blood flow and consequently skin warming and heat loss. We have proposed that these intrinsically occurring changes in core and skin temperatures could modulate neuronal activity in sleep-regulating brain areas (Van Someren EJW, Chronobiol Int 17: 313-54, 2000). We here provide results compatible with this hypothesis. We obtained 144 sleep-onset latencies while directly manipulating core and skin temperatures within the comfortable range in eight healthy subjects under controlled conditions. The induction of a proximal skin temperature difference of only 0.78 +/- 0.03 degrees C (mean +/- SE) around a mean of 35.13 +/- 0.11 degrees C changed sleep-onset latency by 26%, i.e., by 3.09 minutes [95% confidence interval (CI), 1.91 to 4.28] around a mean of 11.85 min (CI, 9.74 to 14.41), with faster sleep onsets when the proximal skin was warmed. The reduction in sleep-onset latency occurred despite a small but significant decrease in subjective comfort during proximal skin warming. The induction of changes in core temperature (delta = 0.20 +/- 0.02 degrees C) and distal skin temperature (delta = 0.74 +/- 0.05 degrees C) were ineffective. Previous studies have demonstrated correlations between skin temperature and sleep-onset latency. Also, sleep disruption by ambient temperatures that activate thermoregulatory defense mechanisms has been shown. The present study is the first to experimentally demonstrate a causal contribution to sleep-onset latency of skin temperature manipulations within the normal nocturnal fluctuation range. Circadian and sleep-appetitive behavior-induced variations in skin temperature might act as an input signal to sleep-regulating systems.

  18. Zebrafish embryos as an alternative to animal experiments--a commentary on the definition of the onset of protected life stages in animal welfare regulations.

    Science.gov (United States)

    Strähle, Uwe; Scholz, Stefan; Geisler, Robert; Greiner, Petra; Hollert, Henner; Rastegar, Sepand; Schumacher, Axel; Selderslaghs, Ingrid; Weiss, Carsten; Witters, Hilda; Braunbeck, Thomas

    2012-04-01

    Worldwide, the zebrafish has become a popular model for biomedical research and (eco)toxicology. Particularly the use of embryos is receiving increasing attention, since they are considered as replacement method for animal experiments. Zebrafish embryos allow the analysis of multiple endpoints ranging from acute and developmental toxicity determination to complex functional genetic and physiological analysis. Particularly the more complex endpoints require the use of post-hatched eleutheroembryo stages. According to the new EU Directive 2010/63/EU on the protection of animals used for scientific purposes, the earliest life-stages of animals are not defined as protected and, therefore, do not fall into the regulatory frameworks dealing with animal experimentation. Independent feeding is considered as the stage from which free-living larvae are subject to regulations for animal experimentation. However, despite this seemingly clear definition, large variations exist in the interpretation of this criterion by national and regional authorities. Since some assays require the use of post-hatched stages up to 120 h post fertilization, the literature and available data are reviewed in order to evaluate if this stage could still be considered as non-protected according to the regulatory criterion of independent feeding. Based on our analysis and by including criteria such as yolk consumption, feeding and swimming behavior, we conclude that zebrafish larvae can indeed be regarded as independently feeding from 120 h after fertilization. Experiments with zebrafish should thus be subject to regulations for animal experiments from 120 h after fertilization onwards.

  19. Up-regulation of the progesterone receptor (PR)-C isoform in laboring myometrium by activation of nuclear factor-kappaB may contribute to the onset of labor through inhibition of PR function.

    Science.gov (United States)

    Condon, Jennifer C; Hardy, Daniel B; Kovaric, Kelly; Mendelson, Carole R

    2006-04-01

    Progesterone acting via the progesterone receptor (PR) plays a critical role in maintaining uterine quiescence during pregnancy. In the present study, we tested the hypothesis that the transactivating capability of the PR is down-regulated in the myometrium at term by a change in uterine PR isoform ratio resulting from local activation of the nuclear factor (NF)-kappaB pathway. Overexpression of the truncated PR-C isoform in human myometrial cells inhibited PR-B transactivation. Expression of PR isoforms, PR-A, PR-B, and PR-C, was characterized by immunoblotting and quantitative PCR (Q-PCR) in fundal and lower uterine segment myometrium from pregnant women in labor and not in labor and in the pregnant mouse uterus during late gestation. We observed a marked increase in levels of PR-C and transcriptionally active PR-B specifically in fundal myometrium of women in labor. In pregnant mouse uterus, levels of PR-B and PR-C also increased between 15 days post coitum and term, whereas expression of PR-A was dramatically up-regulated at 19 days post coitum. In studies of uterine tissues of mice injected intraamniotically with surfactant protein A and of human myometrial and T47D breast cancer cells in culture, up-regulation of PR isoform expression was observed in response to activation of the NF-kappaB pathway. Chromatin immunoprecipitation analysis revealed IL-1beta induced binding of NF-kappaB to the PR promoter. Collectively, these findings suggest that up-regulation of inhibitory PR isoform expression by NF-kappaB activation in both laboring human fundus and pregnant mouse uterus near term may inhibit PR transactivation and thereby lead to a loss of uterine quiescence and the onset of labor.

  20. Adult onset tic disorders

    OpenAIRE

    Chouinard, S; Ford, B.

    2000-01-01

    BACKGROUND—Tic disorders presenting during adulthood have infrequently been described in the medical literature. Most reports depict adult onset secondary tic disorders caused by trauma, encephalitis, and other acquired conditions. Only rare reports describe idiopathic adult onset tic disorders, and most of these cases represent recurrent childhood tic disorders.
OBJECTIVE—To describe a large series of patients with tic disorders presenting during adulthood, to compare cl...

  1. Onset dominance in lateralization.

    Science.gov (United States)

    Freyman, R L; Zurek, P M; Balakrishnan, U; Chiang, Y C

    1997-03-01

    Saberi and Perrott [Acustica 81, 272-275 (1995)] found that the in-head lateralization of a relatively long-duration pulse train could be controlled by the interaural delay of the single pulse pair that occurs at onset. The present study examined this further, using an acoustic pointer measure of lateralization, with stimulus manipulations designed to determine conditions under which lateralization was consistent with the interaural onset delay. The present stimuli were wideband pulse trains, noise-burst trains, and inharmonic complexes, 250 ms in duration, chosen for the ease with which interaural delays and correlations of select temporal segments of the stimulus could be manipulated. The stimulus factors studied were the periodicity of the ongoing part of the signal as well as the multiplicity and ambiguity of interaural delays. The results, in general, showed that the interaural onset delay controlled lateralization when the steady state binaural cues were relatively weak, either because the spectral components were only sparsely distributed across frequency or because the interaural time delays were ambiguous. Onset dominance can be disrupted by sudden stimulus changes within the train, and several examples of such changes are described. Individual subjects showed strong left-right asymmetries in onset effectiveness. The results have implications for understanding how onset and ongoing interaural delay cues contribute to the location estimates formed by the binaural auditory system.

  2. The Notch pathway regulates both the proliferation and differentiation of follicular cells in the panoistic ovary of Blattella germanica.

    Science.gov (United States)

    Irles, Paula; Elshaer, Nashwa; Piulachs, Maria-Dolors

    2016-01-01

    The Notch pathway is an essential regulator of cell proliferation and differentiation during development. Its involvement in insect oogenesis has been examined in insect species with meroistic ovaries, and it is known to play a fundamental role in cell fate decisions and the induction of the mitosis-to-endocycle switch in follicular cells (FCs). This work reports the functions of the main components of the Notch pathway (Notch and its ligands Delta and Serrate) during oogenesis in Blattella germanica, a phylogenetically basal species with panoistic ovary. As is revealed by RNAi-based analyses, Notch and Delta were found to contribute towards maintaining the FCs in an immature, non-apoptotic state. This ancestral function of Notch appears in opposition to the induction of transition from mitosis to endocycle that Notch exerts in Drosophila melanogaster, a change in the Notch function that might be in agreement with the evolution of the insect ovary types. Notch was also shown to play an active role in inducing ovarian follicle elongation via the regulation of the cytoskeleton. In addition, Delta and Notch interactions were seen to determine the differentiation of the posterior population of FCs. Serrate levels were found to be Notch-dependent and are involved in the control of the FC programme, although they would appear to play no crucial role in panoistic ovary oogenesis.

  3. [Sudden onset diplopia].

    Science.gov (United States)

    Besch, D; Schuettauf, F

    2013-09-01

    Sudden onset diplopia may occur secondary to something as simple as uncorrected refractive error or as complicated as brainstem disorders in conjunction with other symptoms. Therefore, all complaints of diplopia must be a cause for concern. Ophthalmologists have to determine if diplopia is the first sign of a systemic or neurological disorder, which needs to be referred to a specialist or can be managed by the practitioner. In this paper the importance of the case history, primary diagnostic options, the indications for supplementary testing with computed tomography (CT) or magnetic resonance imaging (MRI) as well as treatment options when a patient complains of sudden onset diplopia are discussed.

  4. Onset of magnetospheric substorms.

    Science.gov (United States)

    Tsurutani, B.; Bogott, F.

    1972-01-01

    An examination of the onset of magnetospheric substorms is made by using ATS 5 energetic particles, conjugate balloon X rays and electric fields, all-sky camera photographs, and auroral-zone magnetograms. It is shown that plasma injection to ATS distances, conjugate 1- to 10-keV auroral particle precipitation, energetic electron precipitation, and enhancements of westward magnetospheric electric-field component all occur with the star of slowly developing negative magnetic bays. No trapped or precipitating energetic-particle features are seen at ATS 5 when later sharp negative magnetic-bay onsets occur at Churchill or Great Whale River.

  5. 33 CFR 110.45 - Onset Bay, Mass.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Onset Bay, Mass. 110.45 Section 110.45 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY ANCHORAGES ANCHORAGE REGULATIONS Special Anchorage Areas § 110.45 Onset Bay, Mass. Northerly of a line extending...

  6. Late-Onset Asthma

    DEFF Research Database (Denmark)

    Ulrik, Charlotte Suppli

    2017-01-01

    Late-onset asthma is common, associated with poor outcome, underdiagnosed and undertreated, possibly due to the modifying effect of ageing on disease expression. Although the diagnostic work-up in elderly individuals suspected of having asthma follows the same steps as in younger individuals (case......, to objectively confirm asthma. If necessary, a trial of oral or inhaled corticosteroid might be necessary. Asthma can be diagnosed when increased airflow variability is identified in a symptomatic patient, and if the patient does not have a history of exposure, primarily smoking, known to cause chronic...... obstructive pulmonary disease, the diagnosis is asthma even if the patient does not have fully reversible airflow obstruction. Pharmacological therapy in patients with late-onset asthma follows international guidelines, including treatment with the lowest effective dose of inhaled corticosteroid to minimize...

  7. Late onset globoid cell leukodystrophy.

    Science.gov (United States)

    Grewal, R P; Petronas, N; Barton, N W

    1991-11-01

    A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy.

  8. Adult-onset tic disorders

    NARCIS (Netherlands)

    Eapen, [No Value; Lees, AJ; Lakke, JPWF; Trimble, MR; Robertson, MM

    2002-01-01

    We report on 8 patients with adult-onset motor tics and vocalisations. Three had compulsive tendencies in childhood and 3 had a family history of tics or obsessive-compulsive behaviour. In comparison with DSM-classified, younger-onset Gilles de la Tourette syndrome, adult-onset tic disorders are mor

  9. Late-onset hypogonadism

    Directory of Open Access Journals (Sweden)

    Piotr Dudek

    2017-06-01

    Full Text Available In Poland, the number of men over the age of 50 years exceeds 6 million. It is estimated that about 2-6% of this population develops symptoms of late-onset hypogonadism (LOH. In men, testosterone deficiency increases slightly with age. LOH is a clinically and biochemically defined disease of older men with serum testosterone level below the reference parameters of younger healthy men and with symptoms of testosterone deficiency, manifested by pronounced disturbances of quality of life and harmful effects on multiple organ systems. Testosterone replacement therapy may give several benefits regarding body composition, metabolic control, and psychological and sexual parameters.

  10. Early-onset Lafora body disease

    Science.gov (United States)

    Turnbull, Julie; Girard, Jean-Marie; Lohi, Hannes; Chan, Elayne M.; Wang, Peixiang; Tiberia, Erica; Omer, Salah; Ahmed, Mushtaq; Bennett, Christopher; Chakrabarty, Aruna; Tyagi, Atul; Liu, Yan; Pencea, Nela; Zhao, XiaoChu; Scherer, Stephen W.; Ackerley, Cameron A.

    2012-01-01

    The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder with uniform course: onset in teenage years, followed by progressively worsening myoclonus, seizures, visual hallucinations and cognitive decline, leading to a vegetative state in status myoclonicus and death within 10 years. Biopsy reveals Lafora bodies, which are pathognomonic and not seen with any other progressive myoclonus epilepsies. Lafora bodies are aggregates of polyglucosans, poorly constructed glycogen molecules with inordinately long strands that render them insoluble. Lafora disease is caused by mutations in the EPM2A or EPM2B genes, encoding the laforin phosphatase and the malin ubiquitin ligase, respectively, two cytoplasmically active enzymes that regulate glycogen construction, ensuring symmetric expansion into a spherical shape, essential to its solubility. In this work, we report a new progressive myoclonus epilepsy associated with Lafora bodies, early-onset Lafora body disease, map its locus to chromosome 4q21.21, identify its gene and mutation and characterize the relationship of its gene product with laforin and malin. Early-onset Lafora body disease presents early, at 5 years, with dysarthria, myoclonus and ataxia. The combination of early-onset and early dysarthria strongly suggests late infantile-variant neuronal ceroid lipofuscinosis, not Lafora disease. Pathology reveals no ceroid lipofuscinosis, but Lafora bodies. The subsequent course is a typical progressive myoclonus epilepsy, though much more protracted than any infantile neuronal ceroid lipofuscinosis, or Lafora disease, patients living into the fourth decade. The mutation, c.781T>C (Phe261Leu), is in a gene of unknown function, PRDM8. We show that the PRDM8 protein interacts with laforin and malin and

  11. The onset of human parturition.

    Science.gov (United States)

    Kamel, Remah Moustafa

    2010-06-01

    Despite impressive progress in the science and technology of reproduction, the mechanism by which labour is initiated in humans remains obscure. As the labour in humans is a distinct event differs from what happens in animals, this study aims to gather the current theories that could explain when and why the onset of human parturition occurs. In a comprehensive review study done at the School of Medicine and Dentistry, University of Bristol, United Kingdom, MetaLib, the university web-based electronic library, was cross-searched for the factors behind the onset of labour in humans through different medical databases such as; Allied and Complementary Medicine Database (AMED), BIOSIS Previews on Web of Knowledge, PubMed, Cochrane Library, Medline and Web of Science, in-addition to the relevant printed medical journals and periodicals. The study revealed that among the potential factors involved in the process of human parturition are the changes in hormonal levels of estrogen and progesterone, increased production of prostaglandins and oxytocin, and the high levels of corticotrophin releasing hormone and cortisol are some among the potential factors involved in the process of human parturition. Inflammatory reactions with the release of cytokines are among the most accepted theories for term and preterm labours. It is most likely that the interaction between all these factors and others, yet to be discovered, play in harmony to initiate the process of labour in women. The result show that birth is a result of complex, partially defined, events that are tightly regulated by a variety of mechanisms and mediators of endocrine, nervous and immune systems. Unfortunately, none of them is completely elucidated.

  12. Early-Onset Dementia

    DEFF Research Database (Denmark)

    Konijnenberg, Elles; Fereshtehnejad, Seyed-Mohammad; Kate, Mara Ten;

    2017-01-01

    BACKGROUND: Early-onset dementia (EOD) is a rare condition, with an often atypical clinical presentation, and it may therefore be challenging to diagnose. Specialized memory clinics vary in the type of patients seen, diagnostic procedures applied, and the pharmacological treatment given. The aim...... of this study was to investigate quality-of-care indicators in subjects with EOD from 3 tertiary memory clinics in 3 European countries. METHODS: We included 1325 newly diagnosed EOD patients, ages 65 years or younger, between January 1, 2007 and December 31, 2013, from the Danish Dementia Registry...... (Rigshospitalet, Copenhagen), the Swedish Dementia Registry ("SveDem", Karolinska University Hospital, Stockholm), and the Amsterdam Dementia Cohort (VU University Medical Center). RESULTS: The frequency of EOD among all dementia patients was significantly lower in Copenhagen (410, 20%) and Stockholm (284, 21...

  13. Early Onset Werner Syndrome

    Directory of Open Access Journals (Sweden)

    Berna İmge Aydoğan

    2015-09-01

    Full Text Available Werner syndrome (WS is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders. Symptoms of premature aging usually first develop in the second-third decades of life. We report a 27-year-old female who was admitted to our clinic at the age of eighteen with hyperglycemia. She was diagnosed with diabetes and type 4 dyslipidemia at the age of seven. In her family history, her parents were first cousins and she had three healthy brothers. On her first physical examination; she had bird-like face appearance, global hair loss, beaked nose, short stature and she was overweight. She had global hair loss with gray and thin hair. Hoarseness of voice and hyperkeratosis of skin were observed. She had bilateral cataracts and moderate sensorineural hearing loss. On psychiatric examination, borderline mental retardation was detected. She had severe insulin resistance and hypertriglyceridemia despite levothyroxine, gemfibrozil, omega-3 and intensive insulin treatment. Routine lipid apheresis was performed to lower the triglyceride levels reaching 5256 mg/dL. She also had focal segmental glomerulosclerosis, hepatosteatosis, osteoporosis and epilepsy. Disease was accompanied by several congenital deformities, such as Rathke’s cleft cyst, angiomyolipoma and femoral neck hypoplasia. WS is a rare genetic disorder characterized by multiple endocrine manifestations as well as soft tissue changes. We present a case of early disturbances that were diagnosed before typical clinical signs and symptoms. We propose that WS should be kept in mind when type 2 diabetes and hyperlipidemia are diagnosed early in childhood. Turk Jem 2015; 19: 99-104

  14. LATE ONSET ATRIOVENTRICULAR NODAL TACHYCARDIA

    NARCIS (Netherlands)

    PENTINGA, ML; MEEDER, JG; CRIJNS, HJGM; DEMUINCK, ED; WIESFELD, ACP; LIE, KI

    AV nodal tachycardia may present at any age, but onset in late adulthood is considered uncommon. To evaluate whether onset of AV nodal tachycardias at older age is related to organic heart disease (possibly setting the stage for re-entry due to degenerative structural changes) 32 consecutive

  15. LATE ONSET ATRIOVENTRICULAR NODAL TACHYCARDIA

    NARCIS (Netherlands)

    PENTINGA, ML; MEEDER, JG; CRIJNS, HJGM; DEMUINCK, ED; WIESFELD, ACP; LIE, KI

    1993-01-01

    AV nodal tachycardia may present at any age, but onset in late adulthood is considered uncommon. To evaluate whether onset of AV nodal tachycardias at older age is related to organic heart disease (possibly setting the stage for re-entry due to degenerative structural changes) 32 consecutive patient

  16. Biologically inspired robust onset detection

    Science.gov (United States)

    Smith, Leslie S.

    2003-04-01

    Onsets are rapid increases in signal strength. The common onset time in different frequency bands provides an important cue for dynamically grouping sound energy, and hence for sound streaming. Onsets are important for segmenting sounds [Smith, J. New Music Res. 23, 11-23 (1994)] and for determining where to measure IIDs and ITDs for the sound direction finding [Smith, J. Acoust. Soc. Am. 111, 2467 (2002)]. Effective onset detection requires low latency and the capacity to cope with wide variation in the dynamic range. Many neurons in the auditory brainstem are sensitive to onsets. The system filters sound into cochlea-like bands (using a Gammatone filterbank), then spike codes positive-going zero-crossings. A wide dynamic range is achieved by using multiple spike trains per filter band, each with different sensitivity. The spike trains from each band innervate a leaky integrate-and-fire neuron. The excitatory synapses from the spike trains are fast and depressing: the shunting inhibitory synapses are facilitating and slower. The combined effect is that the neuron produces a single spike for each onset over a wide dynamic range with very low latency. The use of both inhibitory and excitatory synapses improves onset detection over purely excitatory synapses, leading to a better sound direction finding than previously reported.

  17. Adult onset pityriasis rubra pilaris

    Directory of Open Access Journals (Sweden)

    Sehgal Virendra

    2008-01-01

    Full Text Available Pityriasis rubra pilaris (PRP has always been an intriguing topic ever since its inception. It is a group of chronic disorders characterized by reddish orange plaques with pityriasiform scaling showing follicular keratoses, palmoplantar keratoderma, and sometimes, erythroderma. It occurs all over the world but with racial variations. Its incidence might vary and the age at onset, behavior, clinical appearance, and prognosis are considered to be very important for its classification. It may manifest either as Type I classical adult onset PRP, Type II atypical adult (onset PRP, or Type VI PRP (HIV-associated PRP pityriasis rubra pilaris in contrast to classical juvenile (Type III and circumscribed juvenile (Type IV encountered among children. Its diagnosis is largely clinical with microscopic pathology being a useful supplement, but it continues to be a therapeutic dilemma. We review the epidemiology of adult onset PRP here and take stock of the prevalent treatment options.

  18. Circadian Variation Of Stroke Onset

    Directory of Open Access Journals (Sweden)

    Kamath vasantha

    2003-01-01

    Full Text Available Diurnal variations in various physiological and biochemical functions and certain pathological events like myocardial infarction and stroke have been documented. We studied prospectively one hundred and seven patients of acute onset stroke confirmed by computed tomography for the exact time of onset, risk factors and type of stroke. Patients who were unclear of time of onset and with a diagnosis of cerebral venous thrombosis or sub-arachnoid hemorrhage were excluded. Infarction was detected in 71 patients and hemorrhage in 33 patients. Men out numbered women (1:6:1. Hypertension was more frequent in hemorrhage in the morning time (5 AM-12 noon and more infarction between 12-6 pm. However there was no relation between the time of onset of stroke and various risk-factors of stroke.

  19. Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.

    Science.gov (United States)

    Scherag, André; Dina, Christian; Hinney, Anke; Vatin, Vincent; Scherag, Susann; Vogel, Carla I G; Müller, Timo D; Grallert, Harald; Wichmann, H-Erich; Balkau, Beverley; Heude, Barbara; Jarvelin, Marjo-Riitta; Hartikainen, Anna-Liisa; Levy-Marchal, Claire; Weill, Jacques; Delplanque, Jérôme; Körner, Antje; Kiess, Wieland; Kovacs, Peter; Rayner, Nigel W; Prokopenko, Inga; McCarthy, Mark I; Schäfer, Helmut; Jarick, Ivonne; Boeing, Heiner; Fisher, Eva; Reinehr, Thomas; Heinrich, Joachim; Rzehak, Peter; Berdel, Dietrich; Borte, Michael; Biebermann, Heike; Krude, Heiko; Rosskopf, Dieter; Rimmbach, Christian; Rief, Winfried; Fromme, Tobias; Klingenspor, Martin; Schürmann, Annette; Schulz, Nadja; Nöthen, Markus M; Mühleisen, Thomas W; Erbel, Raimund; Jöckel, Karl-Heinz; Moebus, Susanne; Boes, Tanja; Illig, Thomas; Froguel, Philippe; Hebebrand, Johannes; Meyre, David

    2010-04-22

    Meta-analyses of population-based genome-wide association studies (GWAS) in adults have recently led to the detection of new genetic loci for obesity. Here we aimed to discover additional obesity loci in extremely obese children and adolescents. We also investigated if these results generalize by estimating the effects of these obesity loci in adults and in population-based samples including both children and adults. We jointly analysed two GWAS of 2,258 individuals and followed-up the best, according to lowest p-values, 44 single nucleotide polymorphisms (SNP) from 21 genomic regions in 3,141 individuals. After this DISCOVERY step, we explored if the findings derived from the extremely obese children and adolescents (10 SNPs from 5 genomic regions) generalized to (i) the population level and (ii) to adults by genotyping another 31,182 individuals (GENERALIZATION step). Apart from previously identified FTO, MC4R, and TMEM18, we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85x10(-8) in the DISCOVERY step) and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene) and MSRA (methionine sulfoxide reductase A gene; p = 4.84x10(-7)), the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step. The odds ratios for early-onset obesity were estimated at approximately 1.10 per risk allele for both loci. Interestingly, the TNKS/MSRA locus has recently been found to be associated with adult waist circumference. In summary, we have completed a meta-analysis of two GWAS which both focus on extremely obese children and adolescents and replicated our findings in a large followed-up data set. We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8, and TNKS/MSRA were robustly associated with early-onset obesity. We conclude that the currently known major common variants related to obesity overlap to a substantial degree

  20. Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.

    Directory of Open Access Journals (Sweden)

    André Scherag

    2010-04-01

    Full Text Available Meta-analyses of population-based genome-wide association studies (GWAS in adults have recently led to the detection of new genetic loci for obesity. Here we aimed to discover additional obesity loci in extremely obese children and adolescents. We also investigated if these results generalize by estimating the effects of these obesity loci in adults and in population-based samples including both children and adults. We jointly analysed two GWAS of 2,258 individuals and followed-up the best, according to lowest p-values, 44 single nucleotide polymorphisms (SNP from 21 genomic regions in 3,141 individuals. After this DISCOVERY step, we explored if the findings derived from the extremely obese children and adolescents (10 SNPs from 5 genomic regions generalized to (i the population level and (ii to adults by genotyping another 31,182 individuals (GENERALIZATION step. Apart from previously identified FTO, MC4R, and TMEM18, we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85x10(-8 in the DISCOVERY step and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene and MSRA (methionine sulfoxide reductase A gene; p = 4.84x10(-7, the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step. The odds ratios for early-onset obesity were estimated at approximately 1.10 per risk allele for both loci. Interestingly, the TNKS/MSRA locus has recently been found to be associated with adult waist circumference. In summary, we have completed a meta-analysis of two GWAS which both focus on extremely obese children and adolescents and replicated our findings in a large followed-up data set. We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8, and TNKS/MSRA were robustly associated with early-onset obesity. We conclude that the currently known major common variants related to obesity overlap to a substantial

  1. Two New Loci for Body-Weight Regulation Identified in a Joint Analysis of Genome-Wide Association Studies for Early-Onset Extreme Obesity in French and German Study Groups

    Science.gov (United States)

    Scherag, André; Dina, Christian; Hinney, Anke; Vatin, Vincent; Scherag, Susann; Vogel, Carla I. G.; Müller, Timo D.; Grallert, Harald; Wichmann, H.-Erich; Balkau, Beverley; Heude, Barbara; Jarvelin, Marjo-Riitta; Hartikainen, Anna-Liisa; Levy-Marchal, Claire; Weill, Jacques; Delplanque, Jérôme; Körner, Antje; Kiess, Wieland; Kovacs, Peter; Rayner, Nigel W.; Prokopenko, Inga; McCarthy, Mark I.; Schäfer, Helmut; Jarick, Ivonne; Boeing, Heiner; Fisher, Eva; Reinehr, Thomas; Heinrich, Joachim; Rzehak, Peter; Berdel, Dietrich; Borte, Michael; Biebermann, Heike; Krude, Heiko; Rosskopf, Dieter; Rimmbach, Christian; Rief, Winfried; Fromme, Tobias; Klingenspor, Martin; Schürmann, Annette; Schulz, Nadja; Nöthen, Markus M.; Mühleisen, Thomas W.; Erbel, Raimund; Jöckel, Karl-Heinz; Moebus, Susanne; Boes, Tanja; Illig, Thomas; Froguel, Philippe; Hebebrand, Johannes; Meyre, David

    2010-01-01

    Meta-analyses of population-based genome-wide association studies (GWAS) in adults have recently led to the detection of new genetic loci for obesity. Here we aimed to discover additional obesity loci in extremely obese children and adolescents. We also investigated if these results generalize by estimating the effects of these obesity loci in adults and in population-based samples including both children and adults. We jointly analysed two GWAS of 2,258 individuals and followed-up the best, according to lowest p-values, 44 single nucleotide polymorphisms (SNP) from 21 genomic regions in 3,141 individuals. After this DISCOVERY step, we explored if the findings derived from the extremely obese children and adolescents (10 SNPs from 5 genomic regions) generalized to (i) the population level and (ii) to adults by genotyping another 31,182 individuals (GENERALIZATION step). Apart from previously identified FTO, MC4R, and TMEM18, we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85×10−8 in the DISCOVERY step) and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene) and MSRA (methionine sulfoxide reductase A gene; p = 4.84×10−7), the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step. The odds ratios for early-onset obesity were estimated at ∼1.10 per risk allele for both loci. Interestingly, the TNKS/MSRA locus has recently been found to be associated with adult waist circumference. In summary, we have completed a meta-analysis of two GWAS which both focus on extremely obese children and adolescents and replicated our findings in a large followed-up data set. We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8, and TNKS/MSRA were robustly associated with early-onset obesity. We conclude that the currently known major common variants related to obesity overlap to a substantial degree between

  2. Adult-onset food allergy.

    Science.gov (United States)

    Kivity, Shmuel

    2012-01-01

    The prevalence of food allergy is increasing in both the pediatric and adult populations. While symptom onset occurs mostly during childhood, there are a considerable number of patients whose symptoms first begin to appear after the age of 18 years. The majority of patients with adult-onset food allergy suffer from the pollen-plant allergy syndromes. Many of them manifest their allergy after exercise and consuming food to which they are allergic. Eosinophilic esophagitis, an eosinophilic inflammation of the esophagus affecting individuals of all ages, recently emerged as another allergic manifestation, with both immediate and late response to the ingested food. This review provides a condensed update of the current data in the literature on adult-onset allergy.

  3. Late onset clozapine induced agranulocytosis

    Directory of Open Access Journals (Sweden)

    Rajmohan Velayudhan

    2014-01-01

    Full Text Available Agranulocytosis is defined as an absolute neutrophil count less than 100/mm 3 in association with infectious disease. The risk of agranulocytosis is 0.38% of all clozapine treated cases and there is a relatively lesser incidence in Indian population. The risk of clozapine-induced agranulocytosis and neutropenia is highest in the first 6 months and higher in the initial 18 months after the onset of treatment. There have been very few reports of neutropenia and agranulocytosis after this period. There have so far been no reports of late onset clozapine induced agranulocytosis has been reported from India. A case of late onset clozapine induced agranulocytosis with possible mechanism of the same is reported.

  4. Is an onset vortex important for monsoon onset over Kerala?

    Digital Repository Service at National Institute of Oceanography (India)

    RameshKumar, M.R.; Sankar, S.; Reason, C.

    Inter-annual variability in the formation of the mini warm pool [sea-surface temperature (SST) more than 30 degrees C] over the south eastern Arabian Sea (SEAS) and its role in the formation of the monsoon onset vortex (MOV) has been examined using...

  5. Fetal onset of general movements

    NARCIS (Netherlands)

    Luechinger, Annemarie B.; Hadders-Algra, Mijna; Van Kan, Colette M.; de Vries, JIP

    2008-01-01

    Perinatal qualitative assessment of general movements (GMs) is a tool to evaluate the integrity of the young nervous system. The aim of this investigation was to study the emergence of GMs. Fetal onset of GMs was studied sonographically in 18 fetuses during the first trimester of uncomplicated in vi

  6. Late onset startle induced tics

    NARCIS (Netherlands)

    Tijssen, MAJ; Brown, P; Morris, HR; Lees, A

    1999-01-01

    Three cases of late onset Gilles de la Tourette's syndrome are presented. The motor ties were mainly induced by an unexpected startling stimulus, but the startle reflex was not exaggerated. The ties developed after physical trauma or a period of undue emotional stress. Reflex ties may occur in

  7. Late onset startle induced tics

    NARCIS (Netherlands)

    Tijssen, MAJ; Brown, P; Morris, HR; Lees, A

    1999-01-01

    Three cases of late onset Gilles de la Tourette's syndrome are presented. The motor ties were mainly induced by an unexpected startling stimulus, but the startle reflex was not exaggerated. The ties developed after physical trauma or a period of undue emotional stress. Reflex ties may occur in Gille

  8. Genetics Home Reference: early-onset glaucoma

    Science.gov (United States)

    ... Home Health Conditions early-onset glaucoma early-onset glaucoma Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Glaucoma is a group of eye disorders in which ...

  9. Late onset hereditary episodic ataxia.

    Science.gov (United States)

    Damak, M; Riant, F; Boukobza, M; Tournier-Lasserve, E; Bousser, M-G; Vahedi, K

    2009-05-01

    Episodic ataxias (EA) are hereditary paroxysmal neurological diseases with considerable clinical and genetic heterogeneity. So far seven loci have been reported and four different genes have been identified. Analysis of additional sporadic or familial cases is needed to better delineate the clinical and genetic spectrum of EA. A two generation French family with late onset episodic ataxia was examined. All consenting family members had a brain MRI with volumetric analysis of the cerebellum. Haplotype analysis was performed for the EA2 locus (19p13), the EA5 locus (2q22), the EA6 locus (5p13) and the EA7 locus (19q13). Mutation screening was performed for all exons of CACNA1A (EA2), EAAT1 (EA6) and the coding sequence of KCNA1 (EA1). Four family members had episodic ataxia with onset between 48 and 56 years of age but with heterogeneity in the severity and duration of symptoms. The two most severely affected had daily attacks of EA with a slowly progressive and disabling permanent cerebellar ataxia and a poor response to acetazolamide. Brain MRI showed in three affected members a decrease in the ratio of cerebellar volume:total intracranial volume, indicating cerebellar atrophy. No deleterious mutation was found in CACNA1A, SCA6, EAAT1 or KCNA1. In addition, the EA5 locus was excluded. A new phenotype of episodic ataxia has been described, characterised clinically by a late onset and progressive permanent cerebellar signs, and genetically by exclusion of the genes so far identified in EA.

  10. [Late-onset dysthymic states].

    Science.gov (United States)

    Siranchiev, M A

    2002-01-01

    Sixty patients with dysthymic states which had emerged in later age of 60-80 years were examined. Two clinical types of dysthymic states were described: anergic (20 patients) and hypothymic (40 patients). Different comorbid mental disorders--obsessive-phobic (14 cases), somatoform (10), personality deviations (20) and psycho-organic (7)--were found to be characteristic of late-onset dysthymic states. According to developmental features, late dysthymia was primary (first manifested in the elderly) and secondary (develops after several depressive episodes). In diagnostic terms, the former is considered as "dysthymia" (F34.1 ICD-10) and the latter--as "recurrent depressive disorder" (F33).

  11. Early- versus Late-Onset Systemic Sclerosis

    Science.gov (United States)

    Alba, Marco A.; Velasco, César; Simeón, Carmen Pilar; Fonollosa, Vicent; Trapiella, Luis; Egurbide, María Victoria; Sáez, Luis; Castillo, María Jesús; Callejas, José Luis; Camps, María Teresa; Tolosa, Carles; Ríos, Juan José; Freire, Mayka; Vargas, José Antonio; Espinosa, Gerard

    2014-01-01

    Abstract Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ≤30 years (early onset), age between 31 and 59 years (standard onset), and age ≥60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients. PMID:24646463

  12. Time to diagnosis in young-onset dementia as compared with late-onset dementia

    NARCIS (Netherlands)

    Vliet, D. van; Vugt, M.E. de; Bakker, C.; Pijnenburg, Y.A.; Vernooij-Dassen, M.J.F.J.; Koopmans, R.T.C.M.; Verhey, F.R.J.

    2013-01-01

    BACKGROUND: The extent to which specific factors influence diagnostic delays in dementia is unclear. Therefore, the aim of the present study was to compare duration from symptom onset to diagnosis for young-onset dementia (YOD) and late-onset dementia (LOD) and to assess the effect of age at onset,

  13. Symptom onset in autosomal dominant Alzheimer disease

    Science.gov (United States)

    Acosta-Baena, Natalia; Aisen, Paul S.; Bird, Thomas; Danek, Adrian; Fox, Nick C.; Goate, Alison; Frommelt, Peter; Ghetti, Bernardino; Langbaum, Jessica B.S.; Lopera, Francisco; Martins, Ralph; Masters, Colin L.; Mayeux, Richard P.; McDade, Eric; Moreno, Sonia; Reiman, Eric M.; Ringman, John M.; Salloway, Steve; Schofield, Peter R.; Sperling, Reisa; Tariot, Pierre N.; Xiong, Chengjie; Morris, John C.; Bateman, Randall J.

    2014-01-01

    Objective: To identify factors influencing age at symptom onset and disease course in autosomal dominant Alzheimer disease (ADAD), and develop evidence-based criteria for predicting symptom onset in ADAD. Methods: We have collected individual-level data on ages at symptom onset and death from 387 ADAD pedigrees, compiled from 137 peer-reviewed publications, the Dominantly Inherited Alzheimer Network (DIAN) database, and 2 large kindreds of Colombian (PSEN1 E280A) and Volga German (PSEN2 N141I) ancestry. Our combined dataset includes 3,275 individuals, of whom 1,307 were affected by ADAD with known age at symptom onset. We assessed the relative contributions of several factors in influencing age at onset, including parental age at onset, age at onset by mutation type and family, and APOE genotype and sex. We additionally performed survival analysis using data on symptom onset collected from 183 ADAD mutation carriers followed longitudinally in the DIAN Study. Results: We report summary statistics on age at onset and disease course for 174 ADAD mutations, and discover strong and highly significant (p 0.38) correlations between individual age at symptom onset and predicted values based on parental age at onset and mean ages at onset by mutation type and family, which persist after controlling for APOE genotype and sex. Conclusions: Significant proportions of the observed variance in age at symptom onset in ADAD can be explained by family history and mutation type, providing empirical support for use of these data to estimate onset in clinical research. PMID:24928124

  14. Adult-onset mitochondrial myopathy.

    Science.gov (United States)

    Fernandez-Sola, J.; Casademont, J.; Grau, J. M.; Graus, F.; Cardellach, F.; Pedrol, E.; Urbano-Marquez, A.

    1992-01-01

    Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found. We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life. Images Figure 1 Figure 2 PMID:1589382

  15. Early-Onset Neonatal Sepsis

    Science.gov (United States)

    Simonsen, Kari A.; Anderson-Berry, Ann L.; Delair, Shirley F.

    2014-01-01

    SUMMARY Early-onset sepsis remains a common and serious problem for neonates, especially preterm infants. Group B streptococcus (GBS) is the most common etiologic agent, while Escherichia coli is the most common cause of mortality. Current efforts toward maternal intrapartum antimicrobial prophylaxis have significantly reduced the rates of GBS disease but have been associated with increased rates of Gram-negative infections, especially among very-low-birth-weight infants. The diagnosis of neonatal sepsis is based on a combination of clinical presentation; the use of nonspecific markers, including C-reactive protein and procalcitonin (where available); blood cultures; and the use of molecular methods, including PCR. Cytokines, including interleukin 6 (IL-6), interleukin 8 (IL-8), gamma interferon (IFN-γ), and tumor necrosis factor alpha (TNF-α), and cell surface antigens, including soluble intercellular adhesion molecule (sICAM) and CD64, are also being increasingly examined for use as nonspecific screening measures for neonatal sepsis. Viruses, in particular enteroviruses, parechoviruses, and herpes simplex virus (HSV), should be considered in the differential diagnosis. Empirical treatment should be based on local patterns of antimicrobial resistance but typically consists of the use of ampicillin and gentamicin, or ampicillin and cefotaxime if meningitis is suspected, until the etiologic agent has been identified. Current research is focused primarily on development of vaccines against GBS. PMID:24396135

  16. Early onset (childhood) monogenic neuropathies.

    Science.gov (United States)

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent 40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission.

  17. Differential labour market impacts from disability onset.

    Science.gov (United States)

    Polidano, Cain; Vu, Ha

    2015-03-01

    We estimate the causal labour market impacts of disability onset by gender, age and education levels up to 4 years after onset using longitudinal data from the Household Income and Labour Dynamics Australia survey and difference-in-difference propensity score matching techniques. We find lasting negative impacts on employment, especially full-time employment, which is due more to reduced movement into full-time employment than downshifting from full-time to part-time work following onset. Those without post-school education qualifications are particularly vulnerable to the impacts of onset and are more likely to be out of work and on income support than those with qualifications up to 4 years after onset, due in part because they have greater difficulty adjusting.

  18. Diagnosing young onset dementia can be challenging.

    Science.gov (United States)

    Ahmed, Samrah; Baker, Ian; Butler, Christopher R

    2016-05-01

    Although the risk of developing dementia increases with age, onset can be as early as the third or fourth decade of life. Genetic influences play a more important role in younger than in older people with dementia, so young onset dementia may cluster in families. Diagnosing young onset dementia is challenging. The range of possible presenting features is broad, encompassing behavioural, cognitive, psychiatric and neurological domains, and symptoms are often subtle initially. Frequently the complaints are misattributed to stress or depression, and the patient is falsely reassured that they are too young to have dementia. The most common causes of young onset dementia are early onset forms of adult neurodegenerative conditions and alcohol. Vascular dementia is the second most common cause of young onset dementia after Alzheimer's disease. Conventional vascular risk factors may be absent and diagnosis relies on imaging evidence of cerebrovascular disease. Obtaining a detailed history remains the most important part of the workup and usually requires corroboration by a third party. Undertaking a basic neurological examination is also important. Those with suspected young onset dementia should be referred to a neurology-led cognitive disorders clinic where available as the differenti diagnosis is considerably broader tha in older adults and requires specialist investigation.

  19. Differential Regulation of Cyclin E by Yorkie-Scalloped Signaling in Organ Development

    Directory of Open Access Journals (Sweden)

    Zhiqiang Shu

    2017-03-01

    Full Text Available Tissue integrity and homeostasis are accomplished through strict spatial and temporal regulation of cell growth and proliferation during development. Various signaling pathways have emerged as major growth regulators across metazoans; yet, how differential growth within a tissue is spatiotemporally coordinated remains largely unclear. Here, we report a role of a growth modulator Yorkie (Yki, the Drosophila homolog of Yes-associated protein (YAP, that differentially regulates its targets in Drosophila wing imaginal discs; whereby Yki interacts with its transcriptional partner, Scalloped (Sd, the homolog of the TEAD/TEF family transcription factor in mammals, to control an essential cell cycle regulator Cyclin E (CycE. Interestingly, when Yki was coexpressed with Fizzy-related (Fzr, a Drosophila endocycle inducer and homolog of Cdh1 in mammals, surrounding hinge cells displayed larger nuclear size than distal pouch cells. The observed size difference is attributable to differential regulation of CycE, a target of Yki and Sd, the latter of which can directly bind to CycE regulatory sequences, and is expressed only in the pouch region of the wing disc starting from the late second-instar larval stage. During earlier stages of larval development, when Sd expression was not detected in the wing disc, coexpression of Fzr and Yki did not cause size differences between cells along the proximal–distal axis of the disc. We show that ectopic CycE promoted cell proliferation and apoptosis, and inhibited transcriptional activity of Yki targets. These findings suggest that spatiotemporal expression of transcription factor Sd induces differential growth regulation by Yki during wing disc development, highlighting coordination between Yki and CycE to control growth and maintain homeostasis.

  20. Causes for Late onset Alcohol Use Disorder

    DEFF Research Database (Denmark)

    Emiliussen, Jakob; Nielsen, Anette Søgaard; Andersen, Kjeld

    the available literature on the subject. Method A PRISMA style review and search was performed in late May 2014 and covered MEDLINE, EMBASE, PubMed, and PsychInfo. Inclusion was based on if the study had causes for late-onset AUD in their results section. This revealed 24 articles relevant for this study. After...... not increase the risk for late-onset AUD. However, the data was insufficient to give a reliable quantification of these associations. Discussion A common problem for the studies included (and the ones excluded as well) was the lack of common definitions of late-onset, “stress” and “traumatic life events...

  1. Reactive Oxygen Species and the Aging Eye: Specific Role of Metabolically Active Mitochondria in Maintaining Lens Function and in the Initiation of the Oxidation-Induced Maturity Onset Cataract--A Novel Platform of Mitochondria-Targeted Antioxidants With Broad Therapeutic Potential for Redox Regulation and Detoxification of Oxidants in Eye Diseases.

    Science.gov (United States)

    Babizhayev, Mark A; Yegorov, Yegor E

    2016-01-01

    The aging eye appears to be at considerable risk from oxidative stress. A great deal of research indicates that dysfunctional mitochondria are the primary site of reactive oxygen species (ROS). More than 95% of O2 produced during normal metabolism is generated by the electron transport chain in the inner mitochondrial membrane. Mitochondria are also the major target of ROS. Cataract formation, the opacification of the eye lens, is one of the leading causes of human blindness worldwide, accounting for 47.8% of all causes of blindness. Cataracts result from the deposition of aggregated proteins in the eye lens and lens fiber cell plasma membrane damage, which causes clouding of the lens, light scattering, and obstruction of vision. ROS-induced damage in the lens cell may consist of oxidation of proteins, DNA damage, and/or lipid peroxidation, all of which have been implicated in cataractogenesis. This article is an attempt to integrate how mitochondrial ROS are altered in the aging eye along with those protective and repair therapeutic systems believed to regulate ROS levels in ocular tissues and how damage to these systems contributes to age-onset eye disease and cataract formation. Mitochondria-targeted antioxidants might be used to effectively prevent ROS-induced oxidation of lipids and proteins in the inner mitochondrial membrane in vivo. As a result of the combination of weak metal chelating, OH and lipid peroxyl radicals scavenging, reducing activities to liberated fatty acid, and phospholipid hydroperoxides, carnosine and carcinine appear to be physiological antioxidants able to efficiently protect the lipid phase of biologic membranes and aqueous environments and act as the antiapoptotic natural drug compounds The authors developed and patented the new ophthalmic compositions, including N-acetylcarnosine, acting as a prodrug of naturally targeted to mitochondria L-carnosine endowed with pluripotent antioxidant activities combined with mitochondria

  2. Adult-onset unilateral disabling pansclerotic morphea

    Directory of Open Access Journals (Sweden)

    Adarshlata Singh

    2014-01-01

    Full Text Available Disabling pansclerotic morphea (DPM is a rare, severe, and mutilating form of morphea, involving the dermis, subcutaneous tissue, fat, muscle, and even bone. It is usually seen before the age of 14 years, with the patient complaining of arthralgia and stiffness at the time of onset. We report a case of unilateral adult-onset DPM with sparing of the face. Within a few months of onset, painful contracture deformities of the hand, elbow, and shoulder joints developed, impairing the patient′s normal daily activities. We are reporting this case because of the unusual presentation: DPM in an adult, with history of trauma in childhood and rapid onset of complications, is rare.

  3. Late onset depression: A recent update

    Directory of Open Access Journals (Sweden)

    Ananya Mahapatra

    2015-01-01

    Full Text Available Late onset depression has recently emerged as a serious mental health issue in the geriatric population with significant public health implications. It is often challenging to diagnose and treat this entity. Various theories have been postulated to elucidate the etiology of late onset depression, but a unifying hypothesis is lacking. Although the vascular hypothesis is most researched; a complex interaction of multiple vulnerability factors is the current focus of attention. Numerous psychosocial variables have been implicated to play a significant role in predicting the onset and severity of late-life depression. Phenomenological differences have been delineated from depression occurring at a younger age, but the findings are equivocal. A better understanding of the natural trajectory of depression in the elderly is required for early diagnosis and effective treatment. This review attempts to summarize the current status of evidence regarding epidemiology, etiology, clinical features, and treatment options available for late-onset depression.

  4. Splashing onset in dense suspension droplets

    OpenAIRE

    Peters, Ivo; Xu, Qin; Jaeger, Heinrich M.

    2013-01-01

    We investigate the impact of droplets of dense suspensions onto a solid substrate. We show that a global hydrodynamic balance is unable to predict the splash onset and propose to replace it by an energy balance at the level of the particles in the suspension. We experimentally verify that the resulting, particle-based Weber number gives a reliable, particle size and density dependent splash onset criterion. We further show that the same argument also explains why, in bimodal systems, smaller ...

  5. Spondyloarthritis with onset after age 45.

    Science.gov (United States)

    Olivieri, Ignazio; D'Angelo, Salvatore; Padula, Angela; Leccese, Pietro; Palazzi, Carlo

    2013-12-01

    The ASAS (Assessment in SpondyloArtrhritis international Society) classification criteria for axial and peripheral spondyloarthritis permit to classify patients with age at disease onset less than 45 years. Nevertheless, these two forms of spondyloarthritis may begin after the age of 45. With the longer duration of the life expectancy, patients with this late-onset form of spondyloarthritis may be more frequently recognized in the near future. A small percentage (ranging from 3.5 to 6 %) of patients with axial SpA, as defined by the modified New York criteria, have onset of their disease after 45 years of age. Relatively more frequent is the late onset form of peripheral spondyloarthritis with the characteristics of undifferentiated spondyloarthritis. Its clinical spectrum is as broad as it is in children and very young adults. Psoriatic arthritis frequently begins over the age of 45 and occasionally after the age of 60. Some old studies had suggested than elderly-onset psoriatic arthritis is more severe than younger-onset disease, but a recent study found no such difference, and further studies are needed.

  6. Delayed-onset akathisia due to amisulpride

    Directory of Open Access Journals (Sweden)

    Murad Atmaca

    2011-01-01

    Full Text Available Despite the fact that second-generation antipsychotics have a lower potential to cause extrapyramidal side-effects, including akathisia, their incidence is not negligible. Recent work suggests that tardive akathisia may have pharmacological differences from acute akathisia. In the present study, we have evaluated the nature of delayed-onset akathisia in patients on amisülpride monotherapy. Overall, we screened 56 patients on amisulpride treatment for 2 months at a stabilized amisulpride dose. However, 18 patients with diagnostic and statistical manual of mental disorders-IV (DSM-IV presented with acute or delayed-onset akathisia, and all of them also met the entry criteria. The patients were evaluated at baseline and at the time when akathisia presented clinically, with respect to the Positive and Negative Syndrome Scale and Barnes Akathisia Scale (BAS. Using the primary categorical criterion of akathisia (≥2 points of the BAS global scale, 12 (21.4% of the 56 patients experienced delayed-onset akathisia, and six (10.7% showed acute akathisia. The mean time for onset of acute or delayed-onset akathisia was 5.8 ± 2.1 and 39.4 ± 11.3 days, respectively. The mean BAS scores at baseline and after the period of 2 months were 1.3 ± 0.6 and 3.9 ± 2.4, respectively (P < 0.001. Our results revealed that amisulpride could considerably lead to delayed-onset akathisia. However, studies comprising larger samples receiving different antipsychotics, and more comprehensive assessment, will help to ascertain the role of amisulpride in delayed-onset akathisia.

  7. Perbedaan Rerata Kadar Soluble Fms-Like Tyrosine Kinase-1 (Sflt-1 Serum pada Penderita Early Onset, Late Onset Preeklampsia Berat / Eklampsia dan Kehamilan Normal

    Directory of Open Access Journals (Sweden)

    Laila Rahmi

    2016-01-01

    Full Text Available AbstrakPreeklampsia merupakan sumber utama morbiditas dan mortalitas ibu di seluruh dunia. Kegagalan pengaturan dan ketidakseimbangan agen vasoaktif proangiogenik dan antiangiogenik plasenta, soluble fms-like tyrosine kinase-1 (sFlt-1, vascular endothelial growth factor (VEGF dan placental growth factor (PlGF memainkan peran penting dalam patogenesis preeklampsia. Tujuan penelitian ini adalah menentukan perbedaan rerata kadar sFlt-1 serum pada penderita early onset, late onset preeklampsia berat/ eklampsia dan kehamilan normal. Penelitian dilakukan di RSUP Dr. M. Djamil, RS TK. III dr. Reksodiwiryo dan Laboratorium Biologi Molekuler Fakultas Kedokteran Universitas Andalas Padang dari Februari sampai  Desember 2014 dengan desain cross sectional. Subjek berjumlah 84 orang, terdiri dari tiga kelompok, yaitu kelompok early onset preeklampsia berat/ eklampsia, late onset preeklampsia berat/ eklampsia, dan kehamilan normal sebagai kelompok kontrol yang diambil dengan teknik consecutive sampling. Darah dikumpulkan dari subjek penelitian dengan cara intravena kemudian diukur dengan metode ELISA. Rerata kadar sFlt-1 pada kelompok early onset, late onset preeklampsia berat/ eklampsia dan kehamilan normal secara berturut-turut adalah 4,69±0,96 ng/ml, 2,39±0,57 ng/ml, dan 1,23±0,42 ng/ml. Perbedaan ini sangat signifikan dengan uji statistik ANOVA (p<0,05 dan uji Post Hoc Test Multiple Comparisons. Kesimpulan penelitian adalah terdapat perbedaan yang sangat signifikan antara kadar sFlt-1 serum pada kelompok early onset preeklampsia berat/ eklampsia, late onset preeklampsia berat/ eklampsia dan kehamilan normal.Kata kunci: sFlt-1, antiangiogenik, preeklampsia berat/ eklampsia, kehamilan normal AbstractPreeclampsia is a major cause maternal morbidity and mortality in the world. Failure regulation and imbalance of vasoactive agents and antiangiogenic proangiogenik placenta, soluble fms-like tyrosine kinase-1 (sFlt-1, vascular endothelial growth factor

  8. Localizing epileptic seizure onsets with Granger causality

    Science.gov (United States)

    Adhikari, Bhim M.; Epstein, Charles M.; Dhamala, Mukesh

    2013-09-01

    Accurate localization of the epileptic seizure onset zones (SOZs) is crucial for successful surgery, which usually depends on the information obtained from intracranial electroencephalography (IEEG) recordings. The visual criteria and univariate methods of analyzing IEEG recordings have not always produced clarity on the SOZs for resection and ultimate seizure freedom for patients. Here, to contribute to improving the localization of the SOZs and to understanding the mechanism of seizure propagation over the brain, we applied spectral interdependency methods to IEEG time series recorded from patients during seizures. We found that the high-frequency (>80 Hz) Granger causality (GC) occurs before the onset of any visible ictal activity and causal relationships involve the recording electrodes where clinically identifiable seizures later develop. These results suggest that high-frequency oscillatory network activities precede and underlie epileptic seizures, and that GC spectral measures derived from IEEG can assist in precise delineation of seizure onset times and SOZs.

  9. Menarche, oral contraceptives, pregnancy and progression of disability in relapsing onset and progressive onset multiple sclerosis

    NARCIS (Netherlands)

    D'hooghe, M. B.; Haentjens, P.; Nagels, G.; D'Hooghe, T.; De Keyser, J.

    2012-01-01

    Female gender and hormones have been associated with disease activity in multiple sclerosis (MS). We investigated age at menarche, use of oral contraceptives and pregnancy in relation to progression of disability in relapsing onset and progressive onset MS. We conducted a cross-sectional survey amon

  10. Onset and stability of melatonin treatment effect in childhood sleep onset insomnia

    NARCIS (Netherlands)

    Geijlswijk, I.M. van; Didden, H.C.M.; Heijden, K.B. van der; Smits, M.G.; Leeuwe, J.F.J. van

    2010-01-01

    Backgroud and objective: To evaluate onset and stability of therapeutic effect of 4-week melatonin treatment for chronic sleep onset insomnia in elementary school-aged children. Methods: Retrospective analysis of unpublished data obtained from two previously published randomized, double-blind and pl

  11. Respiratory infections precede adult-onset asthma.

    Directory of Open Access Journals (Sweden)

    Aino Rantala

    Full Text Available BACKGROUND: Respiratory infections in early life are associated with an increased risk of developing asthma but there is little evidence on the role of infections for onset of asthma in adults. The objective of this study was to assess the relation of the occurrence of respiratory infections in the past 12 months to adult-onset asthma in a population-based incident case-control study of adults 21-63 years of age. METHODS/PRINCIPAL FINDINGS: We recruited all new clinically diagnosed cases of asthma (n = 521 during a 2.5-year study period and randomly selected controls (n = 932 in a geographically defined area in South Finland. Information on respiratory infections was collected by a self-administered questionnaire. The diagnosis of asthma was based on symptoms and reversible airflow obstruction in lung function measurements. The risk of asthma onset was strongly increased in subjects who had experienced in the preceding 12 months lower respiratory tract infections (including acute bronchitis and pneumonia with an adjusted odds ratio (OR 7.18 (95% confidence interval [CI] 5.16-9.99, or upper respiratory tract infections (including common cold, sinusitis, tonsillitis, and otitis media with an adjusted OR 2.26 (95% CI 1.72-2.97. Individuals with personal atopy and/or parental atopy were more susceptible to the effects of respiratory infections on asthma onset than non-atopic persons. CONCLUSIONS/SIGNIFICANCE: This study provides new evidence that recently experienced respiratory infections are a strong determinant for adult-onset asthma. Reducing such infections might prevent onset of asthma in adulthood, especially in individuals with atopy or hereditary propensity to it.

  12. Late onset reversible cortical blindness following electrocution.

    Science.gov (United States)

    Chauhan, Bhumir; Philip, Vivek J; Shankar, Udaya C

    2015-12-01

    An elderly gentleman presented with acute onset of bilateral visual blurring and generalized headache after 1 week post electrocution injury. Clinically, the symptoms were attributed to cortical lesion. Magnetic resonance imaging (MRI) of brain revealed bilaterally symmetrical diffusion restriction in parietal and occipital areas. Treatment with intravenous steroids resulted in remarkable improvement in symptoms. Neurological injury secondary to electrocution is a well described entity having a variety of clinical presentation. We put forward our experience with this unique case presenting as post electrocution delayed onset of visual symptoms. Discussion and review of literature related to this clinical entity will also be presented.

  13. Adult onset sporadic ataxias: a diagnostic challenge

    Directory of Open Access Journals (Sweden)

    Orlando Graziani Povoas Barsottini

    2014-03-01

    Full Text Available Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  14. Adult onset tics after peripheral injury.

    Science.gov (United States)

    Erer, Sevda; Jankovic, Joseph

    2008-01-01

    We describe a case with adult onset motor tics after peripheral trauma. A 43-year-old man suffered a left shoulder dislocation during a motorcycle accident 21 years ago. Within 2 weeks after the injury, he noticed the gradual onset of involuntary jerking movements of his left shoulder, which was markedly exacerbated after second left shoulder injury 2 years later. The involuntary movements are phenomenologically identical to tics typically associated with Tourette syndrome (TS), but without the involvement of any other body part and without phonic tics or the typical TS co-morbidities, such as attention deficit or obsessive-compulsive disorder.

  15. Detecting Rainfall Onset Using Sky Images

    CERN Document Server

    Dev, Soumyabrata; Lee, Yee Hui; Winkler, Stefan

    2016-01-01

    Ground-based sky cameras (popularly known as Whole Sky Imagers) are increasingly used now-a-days for continuous monitoring of the atmosphere. These imagers have higher temporal and spatial resolutions compared to conventional satellite images. In this paper, we use ground-based sky cameras to detect the onset of rainfall. These images contain additional information about cloud coverage and movement and are therefore useful for accurate rainfall nowcast. We validate our results using rain gauge measurement recordings and achieve an accuracy of 89% for correct detection of rainfall onset.

  16. Respiratory Infections Precede Adult-Onset Asthma

    OpenAIRE

    2011-01-01

    BACKGROUND: Respiratory infections in early life are associated with an increased risk of developing asthma but there is little evidence on the role of infections for onset of asthma in adults. The objective of this study was to assess the relation of the occurrence of respiratory infections in the past 12 months to adult-onset asthma in a population-based incident case-control study of adults 21-63 years of age. METHODS/PRINCIPAL FINDINGS: We recruited all new clinically diagnosed cases of a...

  17. EFSA Panel on Dietetic Products, Nutrition and Allergies (NDA); Scientific Opinion on the substantiation of a health claim related to melatonin and reduction of sleep onset latency (ID 1698, 1780, 4080) pursuant to Article 13(1) of Regulation (EC) No 1924/2006

    DEFF Research Database (Denmark)

    Tetens, Inge

    is based on the information provided by the Member States in the consolidated list of Article 13 health claims and references that EFSA has received from Member States or directly from stakeholders. The food constituent that is the subject of the health claim is melatonin. The Panel considers...... that melatonin is sufficiently characterised. The claimed effects are “sleep-wake cycle regulation”, “relaxation” and “sleep patterns”. The target population is assumed to be the general population. In the context of the proposed wordings and the clarifications from Member States and the references provided......, the Panel assumes that the claimed effects refer to the reduction of sleep onset latency (time taken to fall asleep). The Panel considers that reduction of sleep onset latency might be a beneficial physiological effect. In weighing the evidence, the Panel took into account that a meta-analysis of controlled...

  18. Role of an MDM4 polymorphism in the early age of onset of nasopharyngeal carcinoma

    Science.gov (United States)

    ZHANG, YAO WEI; GUAN, JIAN; ZHANG, YONG; QIU, YU RONG; CHEN, LONG HUA

    2012-01-01

    Mouse double minute 4 (MDM4) is a critical negative regulator of the tumor suppressor p53. The results of studies have revealed that an MDM4 polymorphism (rs1563828) may contribute to the earlier onset of several malignant diseases. However, the correlation between this polymorphism and nasopharyngeal carcinoma (NPC) susceptibility has not been explored. We performed a case-control study with 210 NPC patients and 200 healthy controls. Significant associations were found when comparing the age of onset of NPC according to the rs1563828 genotype (P=0.01). The average age of onset of NPC in patients with the TT, CC and CT genotypes was 39.3, 48.2 and 45.5 years, respectively. Homozygous variant (TT) carriers developed NPC at an earlier age than homozygous (CC) carriers, such that the age of onset was accelerated by 8.9 years (P=0.002). Our data suggest that rs1563828 is a modifier of the age of onset of NPC in the population studied. The age of onset for NPC with TT homozygotes was earlier than CC carriers. PMID:22783402

  19. Predictors of children's sleep onset and maintenance problems after road traffic accidents

    Directory of Open Access Journals (Sweden)

    Lutz Wittmann

    2012-06-01

    Full Text Available Background: Sleep onset and maintenance problems are a frequent complaint after traumatic events in children. However, the association of traumatic experiences and disturbed sleep remains to be explained. Objective: To examine the incidence of sleep onset and maintenance problems in children after road traffic accidents and identify potential predictors of sleep onset and maintenance problems, including putative psychopathological mechanisms as well as stressors affecting the family system. Method: In 33 children treated for injuries after road traffic accidents, sleep and measures of psychopathology were assessed 10 days, 2 months, and 6 months after hospital admission. The predictive value of four clusters of predictor variables for children's sleep onset and maintenance problems was prospectively tested by multiple regression analyses. These clusters included socio-demographic, injury- and accident-related, and psychopathological variable clusters as well as factors reflecting stressors concerning mothers and family. Results: Children suffering from posttraumatic stress reported a prolonged subjective sleep latency. The severity of sleep onset and maintenance problems was predicted by female sex and the child's as well as mothers’ posttraumatic stress disorder (PTSD severity. Conclusions: Sleep onset and maintenance problems in children after trauma appear to result from a complex interaction of multiple factors. Our findings support the transactional model of sleep-wake regulation that bears implications for the development of adequate intervention strategies.

  20. Spontaneous conversion of first onset atrial fibrillation

    DEFF Research Database (Denmark)

    Lindberg, Søren Østergaard; Hansen, Sidsel; Nielsen, Tonny

    2011-01-01

    Background  We studied all patients admitted to hospital with first onset atrial fibrillation (AF) to determine the probability of spontaneous conversion to sinus rhythm and to identify factors predictive of such a conversion. Methods and Results  We retrospectively reviewed charts of 438...

  1. Voice Onset Time in Parkinson Disease

    Science.gov (United States)

    Fischer, Emily; Goberman, Alexander M.

    2010-01-01

    Research has found that speaking rate has an effect on voice onset time (VOT). Given that Parkinson disease (PD) affects speaking rate, the purpose of this study was to examine VOT with the effect of rate removed (VOT ratio), along with the traditional VOT measure, in individuals with PD. VOT and VOT ratio were examined in 9 individuals with PD…

  2. Early Onset Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-06-01

    Full Text Available The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.

  3. Cannabinoids in late-onset Alzheimer's disease

    NARCIS (Netherlands)

    Ahmed, A.; Marck, M.A. van der; Elsen, G. van den; Olde Rikkert, M.G.M.

    2015-01-01

    Given the lack of effective treatments for late-onset Alzheimer's disease (LOAD) and the substantial burden on patients, families, health care systems, and economies, finding an effective therapy is one of the highest medical priorities. The past few years have seen a growing interest in the medicin

  4. Voice Onset Time in Parkinson Disease

    Science.gov (United States)

    Fischer, Emily; Goberman, Alexander M.

    2010-01-01

    Research has found that speaking rate has an effect on voice onset time (VOT). Given that Parkinson disease (PD) affects speaking rate, the purpose of this study was to examine VOT with the effect of rate removed (VOT ratio), along with the traditional VOT measure, in individuals with PD. VOT and VOT ratio were examined in 9 individuals with PD…

  5. Recipient twin limb ischemia with postnatal onset.

    Science.gov (United States)

    Broadbent, Roland Spencer

    2007-02-01

    After the occurrence of 3 local cases of limb ischemia in newborn twins, we reviewed the literature to investigate this combination systematically. This review reveals a distinct condition: postnatal onset limb ischemia affecting recipient twins in twin-twin transfusion syndrome.

  6. Hypothyroidism in late-onset Pompe disease

    Directory of Open Access Journals (Sweden)

    Joseph Schneider

    2016-09-01

    Conclusions: Hypothyroidism was found at a higher prevalence in patients with late-onset Pompe disease compared to the general adult population at UMMC. Studies in larger populations of patients with Pompe disease would be needed to confirm an association of Pompe disease and hypothyroidism. Challenges include finding an adequate sample size, due the rarity of Pompe disease.

  7. Delayed onset of clozapine-induced leucopenia.

    Science.gov (United States)

    Nongpiur, Arvind; Praharaj, Samir Kumar; Sarkar, Sukanto; Das, Basudeb

    2012-05-01

    Clozapine has been reported to cause agranulocytosis, neutropenia, and leucopenia that usually occur within 18 weeks of initiation of treatment. We report a case of delayed onset leucopenia after 11 years of treatment with clozapine, which reversed within a few days after discontinuation of medication.

  8. Clinical Characteristics of Pediatric-Onset and Adult-Onset Multiple Sclerosis in Hispanic Americans.

    Science.gov (United States)

    Langille, Megan M; Islam, Talat; Burnett, Margaret; Amezcua, Lilyana

    2016-07-01

    Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multiple sclerosis (P ≤ .001). Transverse myelitis was more frequent in adult-onset multiple sclerosis (P ≤ .001). Using multivariable analysis, pediatric-onset multiple sclerosis (adjusted odds ratio, 0.3OR 95% confidence interval 0.16-0.71, P = .004) and being US born (adjusted odds ratio, 0.553, 95% confidence interval 0.3-1.03, P = .006) were less likely to have severe ambulatory disability. Results suggest that pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanics have differences that could be important for treatment and prognosis.

  9. Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer

    DEFF Research Database (Denmark)

    Weischenfeldt, Joachim; Simon, Ronald; Feuerbach, Lars;

    2013-01-01

    comparative assessments with seven elderly-onset PCA genomes. Remarkable age-related differences in structural rearrangement (SR) formation became evident, suggesting distinct disease pathomechanisms. Whereas EO-PCAs harbored a prevalence of balanced SRs, with a specific abundance of androgen-regulated ETS......Early-onset prostate cancer (EO-PCA) represents the earliest clinical manifestation of prostate cancer. To compare the genomic alteration landscapes of EO-PCA with "classical" (elderly-onset) PCA, we performed deep sequencing-based genomics analyses in 11 tumors diagnosed at young age, and pursued...... gene fusions including TMPRSS2:ERG, elderly-onset PCAs displayed primarily non-androgen-associated SRs. Data from a validation cohort of > 10,000 patients showed age-dependent androgen receptor levels and a prevalence of SRs affecting androgen-regulated genes, further substantiating the activity...

  10. Brain structure abnormalities in early-onset and adolescent-onset conduct disorder.

    Science.gov (United States)

    Fairchild, Graeme; Passamonti, Luca; Hurford, Georgina; Hagan, Cindy C; von dem Hagen, Elisabeth A H; van Goozen, Stephanie H M; Goodyer, Ian M; Calder, Andrew J

    2011-06-01

    The developmental taxonomic theory proposes that neurodevelopmental factors play a critical role in the etiology of early-onset conduct disorder, whereas adolescent-onset conduct disorder arises as a result of social mimicry of deviant peers. Recent studies have challenged this theory by demonstrating that adolescents with both early- and adolescent-onset forms of conduct disorder show impaired emotional learning and abnormal neural activation during facial expression processing. The present study extends this work by investigating brain structure in both subtypes of conduct disorder. Voxel-based morphometry was used to compare gray matter volumes in four regions of interest (amygdala, insula, anterior cingulate, and orbitofrontal cortex) in male adolescents with early-onset (N=36) or adolescent-onset (N=27) conduct disorder and in healthy comparison subjects (N=27). Whole-brain structural analyses were also performed. The combined conduct disorder group displayed gray matter volume reductions in the bilateral amygdala, extending into the insula, relative to healthy comparison subjects. Separate comparisons between healthy subjects and each conduct disorder subgroup revealed lower amygdala volume in both subgroups and reduced right insula volume in the adolescent-onset subgroup. Regression analyses within the conduct disorder subjects alone demonstrated a negative correlation between conduct disorder symptoms and right insula volume. The results demonstrate that gray matter volume reductions in brain regions involved in processing socioemotional stimuli are associated with conduct disorder, regardless of age of onset. Brain structural abnormalities may contribute to the emergence of adolescent-onset as well as early-onset conduct disorder.

  11. Rocuronium as muscle relaxant for electroconvulsive therapy in a patient with adult-onset muscular dystrophy.

    Science.gov (United States)

    Bryson, Ethan O; Aloysi, Amy S; Katz, Maya; Popeo, Dennis; Kellner, Charles H

    2011-12-01

    Adult-onset muscular dystrophy is an inherited myopathy characterized by a variable degree of progressive muscle weakness and degeneration. Although not usually fatal, significant muscle weakness results in an up-regulation of acetylcholine receptors on the less responsive postjunctional muscles. The resulting profound potassium release when these receptors are stimulated by the depolarizing muscle relaxant succinylcholine can result in potentially fatal cardiac arrhythmias. We report a case of electroconvulsive therapy safely administered in a 61-year-old man with adult-onset muscular dystrophy requiring muscle relaxation with rocuronium.

  12. COMPARATIVE STUDY OF MATERNAL AND PERINATAL OUTCOME IN EARLY ONSET AND LATE ONSET PREECLAMPSIA

    Directory of Open Access Journals (Sweden)

    Sreedevi Atluri

    2017-01-01

    Full Text Available BACKGROUND Preeclampsia is the leading cause of maternal and perinatal morbidity and mortality worldwide, the exact aetiology of which is still unknown. The concept of early and late pre-eclampsia depending on gestational age at onset is more modern and is widely accepted that these two entities have different aetiologies and should be considered as different forms of the disease. Even though the presenting features overlap, these two entities of preeclampsia differ by biochemical markers, maternal and foetal outcomes. Aim of the Study- This study compares early-onset preeclampsia and late-onset preeclampsia with respect to their clinical presentation, laboratory parameters, management options, maternal and foetal outcomes which gives us an idea that these two preeclampsia subtypes have different pathological processes and a need for varied clinical approach to prevent adverse outcomes. METHODS This is a prospective comparative study conducted in JSS Hospital, Mysore from November, 2014 to June, 2016. All Antenatal cases (both booked and unbooked with gestational age ≥20 weeks between 18 yrs. and 40 yrs. of age diagnosed as preeclampsia as per the inclusion and exclusion criteria attending the outpatient department or admitted were selected and divided in to two groups, early onset preeclampsia (EOP group if gestational age at onset of preeclampsia is before 34 weeks and late onset preeclampsia if gestational age at onset is at 34 weeks or later were observed until delivery and early postpartum period and babies till early neonatal period. RESULTS A total of 158 patients at >20 weeks of gestation with preeclampsia were enrolled for this study. Early-onset Preeclampsia (EOP and Late-onset Preeclampsia (LOP had 75 and 83 pre eclamptic women respectively. Early onset group had severe clinical picture with deranged laboratory findings (Thrombocytopenia, altered liver enzymes, lactic dehydrogenase (LDH levels, urea and creatinine levels compared to

  13. Selective Maturation of Temporal Dynamics of Intracortical Excitatory Transmission at the Critical Period Onset.

    Science.gov (United States)

    Miao, Qinglong; Yao, Li; Rasch, Malte J; Ye, Qian; Li, Xiang; Zhang, Xiaohui

    2016-08-01

    Although the developmental maturation of cortical inhibitory synapses is known to be a critical factor in gating the onset of critical period (CP) for experience-dependent cortical plasticity, how synaptic transmission dynamics of other cortical synapses are regulated during the transition to CP remains unknown. Here, by systematically examining various intracortical synapses within layer 4 of the mouse visual cortex, we demonstrate that synaptic temporal dynamics of intracortical excitatory synapses on principal cells (PCs) and inhibitory parvalbumin- or somatostatin-expressing cells are selectively regulated before the CP onset, whereas those of intracortical inhibitory synapses and long-range thalamocortical excitatory synapses remain unchanged. This selective maturation of synaptic dynamics results from a ubiquitous reduction of presynaptic release and is dependent on visual experience. These findings provide an additional essential circuit mechanism for regulating CP timing in the developing visual cortex.

  14. Selective Maturation of Temporal Dynamics of Intracortical Excitatory Transmission at the Critical Period Onset

    Directory of Open Access Journals (Sweden)

    Qinglong Miao

    2016-08-01

    Full Text Available Although the developmental maturation of cortical inhibitory synapses is known to be a critical factor in gating the onset of critical period (CP for experience-dependent cortical plasticity, how synaptic transmission dynamics of other cortical synapses are regulated during the transition to CP remains unknown. Here, by systematically examining various intracortical synapses within layer 4 of the mouse visual cortex, we demonstrate that synaptic temporal dynamics of intracortical excitatory synapses on principal cells (PCs and inhibitory parvalbumin- or somatostatin-expressing cells are selectively regulated before the CP onset, whereas those of intracortical inhibitory synapses and long-range thalamocortical excitatory synapses remain unchanged. This selective maturation of synaptic dynamics results from a ubiquitous reduction of presynaptic release and is dependent on visual experience. These findings provide an additional essential circuit mechanism for regulating CP timing in the developing visual cortex.

  15. Familial risk factors favoring drug addiction onset.

    Science.gov (United States)

    Zimić, Jadranka Ivandić; Jukić, Vlado

    2012-01-01

    This study, primarily aimed at identification of familial risk factors favoring drug addiction onset, was carried out throughout 2008 and 2009. The study comprised a total of 146 addicts and 134 control subjects. Based on the study outcome, it can be concluded that in the families the addicts were born into, familial risk factors capable of influencing their psychosocial development and favoring drug addiction onset had been statistically more frequently encountered during childhood and adolescence as compared to the controls. The results also indicated the need for further research into familial interrelations and the structure of the families addicts were born into, as well as the need for the implementation of family-based approaches to both drug addiction prevention and therapy.

  16. Risk assessment in neonatal early onset sepsis.

    Science.gov (United States)

    Mukhopadhyay, Sagori; Puopolo, Karen M

    2012-12-01

    The incidence of neonatal early onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early onset sepsis remains a potentially fatal condition, particularly among very low birth-weight infants. Clinical signs of neonatal infection are nonspecific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. Meningioma with hemorrhagic onset: Two case reports

    Directory of Open Access Journals (Sweden)

    Mukul Vij

    2012-01-01

    Full Text Available Haemorrhage is a rare complication of meningiomas that can occur spontaneously, after embolization, stereotactic radiation and perioperatively. Our first case was a 16 year old male, admitted with spastic quadriparesis, and retention of urine. Magnetic Resonance Imaging (MRI revealed anteriorly placed cervical intradural extramedullary mass. Patient underwent emergency surgery following sudden worsening of neurological symptoms and intratumoral bleed was noted peroperatively. Tumor was labeled as angiomatous meningioma with hemorrhage. The second case was of a 45 year female who presented with history of sudden onset weakness in right upper and lower limb followed by unconsciousness. MRI revealed heterogeneous lesion in left parasagittal area with intratumoral bleed. Left frontal craniotomy with tumour decompression was performed. Tumour was labelled as meningothelial meningioma with haemorrhage. Meningiomas with hemorrhagic onset remain rare, and pathophysiology is still incompletely understood. Prevention and outcome of intratumoral haemorrhage highly depends on early diagnosis and adequate treatment.

  18. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  19. Psoriasis and New-onset Depression

    DEFF Research Database (Denmark)

    Jensen, Peter; Ahlehoff, Ole; Egeberg, Alexander

    2016-01-01

    Psoriasis is associated with an increased risk of depression, but results are inconsistent. This study examined the risk of new-onset depression in patients with psoriasis in a nationwide Danish cohort including some 5 million people in the period 2001-2011. A total of 35,001 patients with mild...... psoriasis and 7,510 with severe psoriasis were identified. Incidence rates per 1,000 person-years and incidence rate ratios (IRRs) were calculated. Incidence rates for depression were 20.0 (95% confidence interval 19.9-20.0), 23.9 (23.1-24.7) and 31.6 (29.5-33.8) for the reference population, mild......, the risk of new-onset depression in psoriasis is mediated primarily by comorbidities, except in younger individuals with severe psoriasis, in whom psoriasis itself may be a risk factor....

  20. Delayed onset muscle soreness: is massage effective?

    Science.gov (United States)

    Nelson, Nicole

    2013-10-01

    Despite the widespread occurrence of delayed onset muscle soreness (DOMS), there is little consensus as to the exact cause or which treatments may be most effective at alleviating symptoms. Greater understanding of DOMS can give sports medicine and fitness professionals an opportunity to help prevent or speed recovery of this performance limiting condition. This article will review the DOMS literature, including the potential role of psychosocial factors and explore studies which involve massage therapy as a treatment modality. Articles from PubMed, MEDLINE, Google Scholar, and references from articles are included in this review. Search words and phrases included delayed onset muscle soreness, repeated bout effect, massage effectiveness, exercise induced muscle damage, and eccentric exercise.

  1. Adult onset moyamoya disease: Institutional experience

    Directory of Open Access Journals (Sweden)

    Swati Dayanand Chinchure

    2011-01-01

    Full Text Available Moyamoya disease is a progressive steno-occlusive disease of bilateral carotid forks with the formation of fine collateral vascular network and is an angiographic diagnosis. We analyzed case records of 11 patients with "adult-onset moyamoya disease." Six patients presented with intracranial hemorrhage (intracerebral and/or intraventricular and 5 with focal ischemia. Angiography revealed bilateral Internal carotid artery involvement in 8 patients and unilateral involvement in 3. Posterior cerebral artery involvement was seen in 3 patients. Saccular aneurysm involving posterior circulation was seen in only 1 patient. Although rare, adult-onset moyamoya disease should be considered as one of the causes for intracerebral and intraventricular hemorrhage in adults.

  2. Delaying the onset of Alzheimer disease

    Science.gov (United States)

    Craik, Fergus I.M.; Bialystok, Ellen; Freedman, Morris

    2010-01-01

    Objectives: There is strong epidemiologic evidence to suggest that older adults who maintain an active lifestyle in terms of social, mental, and physical engagement are protected to some degree against the onset of dementia. Such factors are said to contribute to cognitive reserve, which acts to compensate for the accumulation of amyloid and other brain pathologies. We present evidence that lifelong bilingualism is a further factor contributing to cognitive reserve. Methods: Data were collected from 211 consecutive patients diagnosed with probable Alzheimer disease (AD). Patients' age at onset of cognitive impairment was recorded, as was information on occupational history, education, and language history, including fluency in English and any other languages. Following this procedure, 102 patients were classified as bilingual and 109 as monolingual. Results: We found that the bilingual patients had been diagnosed 4.3 years later and had reported the onset of symptoms 5.1 years later than the monolingual patients. The groups were equivalent on measures of cognitive and occupational level, there was no apparent effect of immigration status, and the monolingual patients had received more formal education. There were no gender differences. Conclusions: The present data confirm results from an earlier study, and thus we conclude that lifelong bilingualism confers protection against the onset of AD. The effect does not appear to be attributable to such possible confounding factors as education, occupational status, or immigration. Bilingualism thus appears to contribute to cognitive reserve, which acts to compensate for the effects of accumulated neuropathology. GLOSSARY AD = Alzheimer disease; MMSE = Mini-Mental State Examination. PMID:21060095

  3. Adult-Onset Metachromatic Leukodystrophy: Two Cases

    Directory of Open Access Journals (Sweden)

    Gaye Eryaşar

    2011-12-01

    Full Text Available Metachromatic Leukodystrophy(MLD is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the disease has three major clinical forms as late infantile,juvenile and adult form. It is a rare disorder. For the patients who did not develop neurological findings bone marrow or hematopoietic stem cell transplantation may be effective as treatment.

  4. SUDDEN ONSET SENSORINEURAL HEARING LOSS: MANAGEMENT PROTOCOL

    Directory of Open Access Journals (Sweden)

    Anil Kumar

    2016-06-01

    Full Text Available AIMS To study the efficacy of transcutaneous nitroglycerin and pulse steroid injection in patients with sudden hearing loss. MATERIAL AND METHOD This was a prospective study conducted in the Department of ENT, KIMS, Bhubaneswar; 31 patients who fit to inclusion criteria included in this study. RESULTS Out of 31 patients of sudden onset sensorineural hearing loss, 18 (58.06% patients had threshold closer to 30 dB.

  5. Multiple application delayed onset contact urticaria

    DEFF Research Database (Denmark)

    Andersen, Klaus Ejner; Maibach, H I

    1984-01-01

    An unusual type of contact urticaria to formalin is described, based on 4 patients and experiments in 14 volunteers. The contact urticaria appeared on healthy skin only following repeated open applications or after a single application on slightly diseased skin. The possible relation...... of this phenomenon for patients claiming textile intolerance is discussed. Further tests are required to reveal the mechanism of this delayed onset contact urticaria to formalin....

  6. Childhood-onset bullous systemic lupus erythematosus.

    Science.gov (United States)

    Lourenço, D M R; Gomes, R Cunha; Aikawa, N E; Campos, L M A; Romiti, R; Silva, C A

    2014-11-01

    Bullous systemic lupus erythematosus has rarely been described in pediatric lupus population and the real prevalence of childhood-onset bullous systemic lupus erythematosus has not been reported. From January 1983 to November 2013, 303 childhood-onset SLE (c-SLE) patients were followed at the Pediatric Rheumatology Unit of the Childreńs Institute of Hospital das Clínicas da Faculdade de Medicina Universidade da Universidade de São Paulo, three of them (1%) diagnosed as childhood-onset bullous systemic lupus erythematosus. All three cases presented tense vesiculobullous lesions unassociated with lupus erythematosus lesions, with the median duration of 60 days (30-60). All patients fulfilled bullous systemic lupus erythematosus criteria. Two had nephritis and serositis and presented specific autoantibodies. The histological pattern demonstrated subepidermal blisters with neutrophils-predominant infiltrates within the upper dermis. Direct immunofluorescence (DIF) showed deposits of IgG and complement along the epidermal basement membrane, in the presence or absence of IgA and/or IgM. A positive indirect immunofluorescence on salt-split skin demonstrating dermal binding was observed in two cases. All of them had moderate/severe disease activity at diagnosis with median Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) of 18 (14-24). Two patients received dapsone and one with severe nephritis received immunosuppressive drugs. In conclusion, in the last 30 years the prevalence of bullous lupus in childhood-onset lupus population was low (1%) in our tertiary University Hospital. A diagnosis of SLE should always be considered in children with recurrent tense vesiculobullous lesions with or without systemic manifestations. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  7. Phase analysis method for burst onset prediction

    Science.gov (United States)

    Stellino, Flavio; Mazzoni, Alberto; Storace, Marco

    2017-02-01

    The response of bursting neurons to fluctuating inputs is usually hard to predict, due to their strong nonlinearity. For the same reason, decoding the injected stimulus from the activity of a bursting neuron is generally difficult. In this paper we propose a method describing (for neuron models) a mechanism of phase coding relating the burst onsets with the phase profile of the input current. This relation suggests that burst onset may provide a way for postsynaptic neurons to track the input phase. Moreover, we define a method of phase decoding to solve the inverse problem and estimate the likelihood of burst onset given the input state. Both methods are presented here in a unified framework, describing a complete coding-decoding procedure. This procedure is tested by using different neuron models, stimulated with different inputs (stochastic, sinusoidal, up, and down states). The results obtained show the efficacy and broad range of application of the proposed methods. Possible applications range from the study of sensory information processing, in which phase-of-firing codes are known to play a crucial role, to clinical applications such as deep brain stimulation, helping to design stimuli in order to trigger or prevent neural bursting.

  8. [Acute-Onset Chronic Inflammatory Demyelinating Polyradiculoneuropathy].

    Science.gov (United States)

    Kanbayashi, Takamichi; Sonoo, Masahiro

    2015-11-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is characterized by an insidious onset showing progression over two months. However, up to 16% of CIDP patients may show acute presentation similar to Guillain-Barré syndrome (GBS). Such cases are termed acute-onset CIDP (A-CIDP). Distinguishing A-CIDP from GBS, especially the acute inflammatory demyelinating polyneuropathy (AIDP) subtype, is critical because therapeutic strategies and outcomes may differ between the two syndromes. Regarding clinical features, A-CIDP is less likely to have autonomic nervous system involvement, facial weakness, a preceding infectious illness, or the need for mechanical ventilation, in comparison with AIDP. Electrophysiological features are usually quite similar between the two, although follow-up studies may elucidate key differences. Around 8%-16% of GBS patients may show clinical deterioration shortly after improvement or stabilization following initial immunological therapy. Such a situation is termed treatment-related fluctuation (TRF; GBS-TRF). The distinction between GBS-TRF and A-CIDP is an important clinical issue because maintenance treatment is often required in CIDP. The diagnosis of A-CIDP should be considered when the condition of a patient with GBS deteriorates after nine weeks from onset, or when deterioration occurs three times or more.

  9. Adult-onset opsoclonus-myoclonus syndrome.

    Science.gov (United States)

    Klaas, James P; Ahlskog, J Eric; Pittock, Sean J; Matsumoto, Joseph Y; Aksamit, Allen J; Bartleson, J D; Kumar, Rajeev; McEvoy, Kathleen F; McKeon, Andrew

    2012-12-01

    BACKGROUND Little is known about adult-onset opsoclonus-myoclonus syndrome (OMS) outside of individual case reports. OBJECTIVE To describe adult-onset OMS. DESIGN Review of medical records (January 1, 1990, through December 31, 2011), prospective telephone surveillance, and literature review (January 1, 1967, through December 31, 2011). SETTING Department of Neurology, Mayo Clinic, Rochester, Minnesota. PATIENTS Twenty-one Mayo Clinic patients and 116 previously reported patients with adult-onset OMS. MAIN OUTCOME MEASURES Clinical course and longitudinal outcomes. RESULTS The median age at onset of the 21 OMS patients at the Mayo Clinic was 47 years (range, 27-78 years); 11 were women. Symptoms reported at the first visit included dizziness, 14 patients; balance difficulties, 14; nausea and/or vomiting, 10; vision abnormalities, 6; tremor/tremulousness, 4; and altered speech, 2. Myoclonus distribution was extremities, 15 patients; craniocervical, 8; and trunk, 4. Cancer was detected in 3 patients (breast adenocarcinoma, 2; and small cell lung carcinoma, 1); a parainfectious cause was assumed in the remainder of the patients. Follow-up of 1 month or more was available for 19 patients (median, 43 months; range, 1-187 months). Treatment (median, 6 weeks) consisted of immunotherapy and symptomatic therapy in 16 patients, immunotherapy alone for 2, and clonazepam alone for 1. Of these 19 patients, OMS remitted in 13 and improved in 3; 3 patients died (neurologic decline, 1; cancer, 1; and myocardial infarction, 1). The cause of death was of paraneoplastic origin in 60 of 116 literature review patients, with the most common carcinomas being lung (33 patients) and breast (7); the most common antibody was antineuronal nuclear antibody type 2 (anti-Ri, 15). Other causes were idiopathic in origin, 38 patients; parainfectious, 15 (human immunodeficiency virus, 7); toxic/metabolic, 2; and other autoimmune, 1. Both patients with N -methyl-D-aspartate receptor antibody had

  10. Discrimination of acute lymphoblastic leukemia from systemic-onset juvenile idiopathic arthritis at disease onset

    Directory of Open Access Journals (Sweden)

    Mirian S. Tamashiro

    2011-01-01

    Full Text Available OBJECTIVE: To assess clinical and laboratory features that differentiate acute lymphoblastic leukemia from systemic juvenile idiopathic arthritis at disease onset. METHODS: Fifty-seven leukemia patients with musculoskeletal involvement, without blasts on peripheral blood and without glucocorticoid therapy at disease onset and 102 systemic juvenile idiopathic arthritis patients (International League of Associations for Rheumatology criteria were retrospectively evaluated. The following features were examined: fever, rheumatoid rash, arthritis, limb pain, hepatomegaly, splenomegaly, pericarditis, myocarditis, pleuritis, weight loss, bleeding, anemia, leukopenia, neutropenia, thrombocytopenia, erythrocyte sedimentation rate, and lactic dehydrogenase levels. RESULTS: The median age at disease onset was significantly higher in leukemia patients than in those with systemic-onset juvenile idiopathic arthritis (5.8 vs. 3.8 years. In addition, the frequencies of limb pain, hepatomegaly, weight loss and hemorrhagic manifestations were significantly higher in leukemia patients than in systemic-onset juvenile idiopathic arthritis patients (70% vs. 1%, 54% vs. 32%, 30% vs. 8%, and 9% vs. 0%, respectively. Likewise, the frequencies of anemia, leukopenia, neutropenia, thrombocytopenia and high lactic dehydrogenase levels were statistically higher in leukemia patients than in patients with systemic-onset juvenile idiopathic arthritis (88% vs. 57%, 39% vs. 1%, 60% vs. 1%, 77% vs. 1%, and 56% vs. 14%, respectively. Remarkably, multivariate analysis revealed that limb pain (OR = 553; 95% CI =46.48-6580.42 and thrombocytopenia (OR = 754.13; 95% CI =64.57-8806.72 were significant independent variables that differentiated leukemia from systemic-onset juvenile idiopathic arthritis. The R2 of the Nagelkerke test was 0.91, and the Kaplan-Meier survival curves were similar for acute lymphoblastic leukemia patients with and without limb pain. CONCLUSION: Our study

  11. [A study on thermal regulation disturbance in severely handicapped patients].

    Science.gov (United States)

    Nishimura, M; Nishimura, S

    1991-05-01

    Forty-five severely handicapped patients were investigated on body temperature regulation. Poor regulation cases had CT scans showing severe third and lateral ventricle dilatation. Furthermore, in almost all poor regulation cases of perinatal and postnatal onset, CT scans showed extensive low density areas involving the frontal lobe. Electrophysiological studies (sSEP, ABR and blink reflex) could not show definite differences between poor regulation cases and good regulation cases. These findings suggest that hypothalamus, medial forebrain bundle and frontal lobe play important roles in body temperature regulation. On the other hand, perinatal or postnatal onset cases frequently had small body surface areas and low serum creatinine.

  12. Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks

    Science.gov (United States)

    2017-05-11

    Alzheimer Disease, Early Onset; Alzheimer Disease; Alzheimer Disease, Late Onset; Dementia, Alzheimer Type; Logopenic Progressive Aphasia; Primary Progressive Aphasia; Visuospatial/Perceptual Abilities; Posterior Cortical Atrophy; Executive Dysfunction; Corticobasal Degeneration; Ideomotor Apraxia

  13. Optic neuritis as onset manifestation of multiple sclerosis

    DEFF Research Database (Denmark)

    Sørensen, T L; Frederiksen, J L; Brønnum-Hansen, Henrik;

    1999-01-01

    To determine the predictive value on survival of optic neuritis (ON) as onset manifestation of MS.......To determine the predictive value on survival of optic neuritis (ON) as onset manifestation of MS....

  14. Genetics Home Reference: infantile-onset spinocerebellar ataxia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions IOSCA infantile-onset spinocerebellar ataxia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Infantile-onset spinocerebellar ataxia ( IOSCA ) is a progressive disorder that affects the ...

  15. Infantile onset diabetes mellitus in developing countries - India

    OpenAIRE

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes...

  16. Childhood Onset Schizophrenia: Clinical Features, Course and Outcome

    Science.gov (United States)

    Sood, Mamta; Kattimani, Shivanand

    2008-01-01

    Schizophrenia in children is diagnosed by using adult criteria. Based on the age of onset, patients with childhood onset schizophrenia (COS) are subdivided into those with very early onset (before age 12-14 years) and those with early onset (between 14-17 years). The prevalence of COS is reported to be 1 in 10,000 before the age of 12 years;…

  17. The Age of Onset of Anxiety Disorders.

    Science.gov (United States)

    Lijster, Jasmijn M de; Dierckx, Bram; Utens, Elisabeth M W J; Verhulst, Frank C; Zieldorff, Carola; Dieleman, Gwen C; Legerstee, Jeroen S

    2017-04-01

    The objective was to estimate the age of onset (AOO) for all anxiety disorders and for specific subtypes. Gender differences in the AOO of anxiety disorders were examined, as were the influence of study characteristics on reported AOOs. Seven electronic databases were searched up to October 2014, with keywords representing anxiety disorder subtypes, AOO, and study design. The inclusion criteria were studies using a general population sample that provided data on the AOO for all anxiety disorders, or specific anxiety disorders, according to DSM-III-R, DSM-IV, or ICD-10 criteria. There were 1028 titles examined, which yielded 24 studies meeting the inclusion criteria. Eight studies reported the AOO and gender. Meta-analysis found a mean AOO of all anxiety disorders of 21.3 years (95% CI 17.46 to 25.07). Separation anxiety disorder, specific phobia, and social phobia had their mean onset before the age of 15 years, whereas the AOO of agoraphobia, obsessive-compulsive disorder, posttraumatic stress disorder, panic disorder, and generalized anxiety disorder began, on average, between 21.1 and 34.9 years. Meta-analysis revealed no difference in the AOO between genders. A prospective study design and higher developmental level of the study country were associated with an earlier AOO. Results from this meta-analysis indicate that anxiety disorder subtypes differ in the mean AOO, with onsets ranging from early adolescence to young adulthood. These findings suggest that prevention strategies of anxiety disorders should be directed towards factors associated with the development of anxiety disorder subtypes in the age groups with the greatest vulnerability for developing those disorders.

  18. Conduction at the onset of chaos

    Science.gov (United States)

    Baldovin, Fulvio

    2017-02-01

    After a general discussion of the thermodynamics of conductive processes, we introduce specific observables enabling the connection of the diffusive transport properties with the microscopic dynamics. We solve the case of Brownian particles, both analytically and numerically, and address then whether aspects of the classic Onsager's picture generalize to the non-local non-reversible dynamics described by logistic map iterates. While in the chaotic case numerical evidence of a monotonic relaxation is found, at the onset of chaos complex relaxation patterns emerge.

  19. The onset of labour: an alternative theory.

    Science.gov (United States)

    Jones, P

    1996-02-01

    This article, based mainly on the theories and discoveries of Wilhelm Reich (1897-1957), puts forward the bio-energetic theory of the onset of labour, which assumes it to be one of many examples of bio-energetic pulsation in the organism. It suggests that chronic muscular tension ('armouring') interferes with this spontaneous pulsation and may account for many of the difficulties experienced by women in labour. A form of psychotherapy ('orgone-therapy') based on these theories may prove helpful in childbirth education, in the non-intrusive induction of labour, and in labour itself. A research project to test this hypothesis is suggested.

  20. The onset of human labor: current theories.

    Science.gov (United States)

    Navitsky; Greene; Curry

    2000-09-01

    Innovative research has led to marked improvement in medical knowledge. Advances in technology have allowed us to attain a clearer understanding of many physiologic processes. Despite these impressive gains in knowledge, the cause of the initiation of the process of human labor remains unclear. Potential factors include changes in hormonal levels of estrogen and progesterone, increased production of prostaglandins, and elevation of levels of corticotropin-releasing hormone, as well as increased sensitivity of the myometrium to endogenous oxytocin. It is most likely that interactions between these factors play an essential role in the process of labor, but the precise mechanism of onset still eludes us.

  1. Onset symptoms in paediatric multiple sclerosis

    DEFF Research Database (Denmark)

    Boesen, Magnus Spangsberg; Sellebjerg, Finn; Blinkenberg, Morten

    2014-01-01

    at disease onset, cerebrospinal fluid findings, magnetic resonance imaging (MRI) and evoked potentials at the first demyelinating event. These data were compared with similar nationwide data from adults in Denmark. RESULTS: The median age was 14 (range 10-15) years at the first demyelinating event......: 66-100%) of paediatric MS subjects, 77% (CI: 46-95%) had an elevated IgG index and 85% (CI: 55-98%) had oligoclonal bands in the cerebrospinal fluid. MRI showed characteristic white matter lesions in all children (CI: 80-100%). CONCLUSION: MS symptoms at the first demyelinating event and diagnostic...

  2. ONSET: Automated foundational ontology selection and explanation

    CSIR Research Space (South Africa)

    Khan, Z

    2012-10-01

    Full Text Available ://www.meteck.org/files/onset/. Scenario 1: Semantic Management of Middleware. The tool was tested according to the requirements of [9] which is an application of the semantic web. Ontolog- ical choices of the test case include: descriptiveness, a multiplicative approach, possibilism... to use DOLCE only. Even when a domain ontology developer wants to consider using a FO, there is a prohibitive learning curve due to the considerable quantity of documentation and the new terminology it introduces. Seeing that FOs are bene cial...

  3. SUMO: regulating the regulator

    Directory of Open Access Journals (Sweden)

    Bossis Guillaume

    2006-06-01

    Full Text Available Abstract Post-translational modifiers of the SUMO (Small Ubiquitin-related Modifier family have emerged as key regulators of protein function and fate. While the past few years have seen an enormous increase in knowledge on SUMO enzymes, substrates, and consequences of modification, regulation of SUMO conjugation is far from being understood. This brief review will provide an overview on recent advances concerning (i the interplay between sumoylation and other post-translational modifications at the level of individual targets and (ii global regulation of SUMO conjugation and deconjugation.

  4. Age of onset as a moderator of cognitive decline in pediatric-onset multiple sclerosis.

    Science.gov (United States)

    Hosseini, Banafsheh; Flora, David B; Banwell, Brenda L; Till, Christine

    2014-09-01

    Cognitive impairment is often reported in pediatric-onset multiple sclerosis (MS). Using serial cognitive data from 35 individuals with pediatric-onset MS, this study examined how age at disease-onset and proxies of cognitive reserve may impact cognitive maturation over the course of childhood and adolescence. Neuropsychological evaluations were conducted at baseline and up to four more assessments. Of the 35 participants, 7 completed only one assessment, 5 completed two assessments, 13 completed three assessments, 10 completed four or more assessments. Growth curve modeling was used to assess longitudinal trajectories on the Trail Making Test-Part B (TMT-B) and the Symbol Digit Modalities (SDMT; oral version) and to examine how age at disease onset, baseline Full Scale IQ, and social status may moderate rate of change on these measures. Mean number of evaluations completed per patient was 2.8. Younger age at disease onset was associated with a greater likelihood of cognitive decline on both the TMT-B (p=.001) and SDMT (p=.005). Baseline IQ and parental social status did not moderate any of the cognitive trajectories. Findings suggest that younger age at disease-onset increases the vulnerability for disrupted performance on measures of information processing, visual scanning, perceptual/motor speed, and working memory. Proxies of cognitive reserve did not protect against the progression of decline on these measures. Young patients with MS should be advised to seek follow-up cognitive evaluation to assess cognitive maturation and to screen for the potential late emergence of cognitive deficits. (JINS, 2014, 20, 1-9).

  5. Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency

    OpenAIRE

    Kim, Ja Hye; Cho, Ja Hyang; Yoo, Han-Wook; Choi, Jin-Ho

    2014-01-01

    Purpose Growth hormone (GH) plays a key role in the regulation of body composition, lipid metabolism, and quality of life in adults with GH deficiency (GHD). This study investigated changes in laboratory findings and body composition after GH recommencement for adult GHD and analyzed correlation between GH interruption period and endocrine or anthropometric parameters. Methods A total of 45 patients (17 females and 28 males) diagnosed with childhood-onset GHD (CO-GHD) were investigated and al...

  6. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

    Science.gov (United States)

    Flanagan, Sarah E; Haapaniemi, Emma; Russell, Mark A; Caswell, Richard; Lango Allen, Hana; De Franco, Elisa; McDonald, Timothy J; Rajala, Hanna; Ramelius, Anita; Barton, John; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Kajosaari, Merja; Murphy, Nuala P; Milenkovic, Tatjana; Seppänen, Mikko; Lernmark, Åke; Mustjoki, Satu; Otonkoski, Timo; Kere, Juha; Morgan, Noel G; Ellard, Sian; Hattersley, Andrew T

    2014-08-01

    Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.

  7. Can Mustard Gas Induce Late Onset Polyneuropathy?

    Directory of Open Access Journals (Sweden)

    SJ. Mousavi

    2007-11-01

    Full Text Available Background:Mustard gas, lethal in high doses, affects multiple organs such as skin, eye and respiratory system. We studied the development of late onset mustardinduced polyneuropathy among chemically wounded Iranian veterans.Methods:In this descriptive study,100 chemically wounded Iranian veterans with severe eye involvement were examined for any signs and symptoms of polyneuropathy by an internist.20 patients were suspected to have neurological symptoms or signs.These patients were examined by a neurologist again. 13 showed abnormal neurological symptoms. Electrodiagnostic exams were performed for this group by another physician.Results:13 veterans had abnormal neurological exam results with prominent sensory signs and symptoms in almost all of them. Brisk deep tendon reflexes were found in 3 cases. Electrodiagnostic studies were compatible with axonal type distal sensory polyneuropathy in 6 subjects. Conclusion: To the best of our knowledge, this is the first report of late onset polyneuropathy among chemically-wounded victims who were exposed to mustard gas. The pathophysiology of this form of neuropathy is still unknown. Unlike most toxic neuropathies,obvious clinical signs and symptoms appeared several years after exposure. No specific treatment for.polyneuropathy due to chemical weapons exposure has been described to date.

  8. New-onset refractory status epilepticus

    Science.gov (United States)

    Foreman, Brandon P.; Alvarez, Vincent; Cabrera Kang, Christian; Probasco, John C.; Jongeling, Amy C.; Meyers, Emma; Espinera, Alyssa; Haas, Kevin F.; Schmitt, Sarah E.; Gerard, Elizabeth E.; Gofton, Teneille; Kaplan, Peter W.; Lee, Jong W.; Legros, Benjamin; Szaflarski, Jerzy P.; Westover, Brandon M.; LaRoche, Suzette M.; Hirsch, Lawrence J.

    2015-01-01

    Objectives: The aims of this study were to determine the etiology, clinical features, and predictors of outcome of new-onset refractory status epilepticus. Methods: Retrospective review of patients with refractory status epilepticus without etiology identified within 48 hours of admission between January 1, 2008, and December 31, 2013, in 13 academic medical centers. The primary outcome measure was poor functional outcome at discharge (defined as a score >3 on the modified Rankin Scale). Results: Of 130 cases, 67 (52%) remained cryptogenic. The most common identified etiologies were autoimmune (19%) and paraneoplastic (18%) encephalitis. Full data were available in 125 cases (62 cryptogenic). Poor outcome occurred in 77 of 125 cases (62%), and 28 (22%) died. Predictors of poor outcome included duration of status epilepticus, use of anesthetics, and medical complications. Among the 63 patients with available follow-up data (median 9 months), functional status improved in 36 (57%); 79% had good or fair outcome at last follow-up, but epilepsy developed in 37% with most survivors (92%) remaining on antiseizure medications. Immune therapies were used less frequently in cryptogenic cases, despite a comparable prevalence of inflammatory CSF changes. Conclusions: Autoimmune encephalitis is the most commonly identified cause of new-onset refractory status epilepticus, but half remain cryptogenic. Outcome at discharge is poor but improves during follow-up. Epilepsy develops in most cases. The role of anesthetics and immune therapies warrants further investigation. PMID:26296517

  9. Resolution of Inflammation: What Controls Its Onset?

    Science.gov (United States)

    Sugimoto, Michelle A; Sousa, Lirlândia P; Pinho, Vanessa; Perretti, Mauro; Teixeira, Mauro M

    2016-01-01

    An effective resolution program may be able to prevent the progression from non-resolving acute inflammation to persistent chronic inflammation. It has now become evident that coordinated resolution programs initiate shortly after inflammatory responses begin. In this context, several mechanisms provide the fine-tuning of inflammation and create a favorable environment for the resolution phase to take place and for homeostasis to return. In this review, we focus on the events required for an effective transition from the proinflammatory phase to the onset and establishment of resolution. We suggest that several mediators that promote the inflammatory phase of inflammation can simultaneously initiate a program for active resolution. Indeed, several events enact a decrease in the local chemokine concentration, a reduction which is essential to inhibit further infiltration of neutrophils into the tissue. Interestingly, although neutrophils are cells that characteristically participate in the active phase of inflammation, they also contribute to the onset of resolution. Further understanding of the molecular mechanisms that initiate resolution may be instrumental to develop pro-resolution strategies to treat complex chronic inflammatory diseases, in humans. The efforts to develop strategies based on resolution of inflammation have shaped a new area of pharmacology referred to as "resolution pharmacology."

  10. Onset of molar incisor hypomineralization (MIH).

    Science.gov (United States)

    Fagrell, Tobias G; Salmon, Phil; Melin, Lisa; Norén, Jörgen G

    2013-01-01

    The etiological factors and timing of the onset of molar incisor hypomineralization (MIH) are still not clear. The aim of this study was to examine ground radial and sagittal sections from teeth diagnosed with MIH using light microscopy, polarized light microscopy and X-ray micro-computed tomography (XMCT) and to estimate the onset and timing of the MIH and to relate the hypomineralized enamel to the incremental lines. Thirteen extracted permanent first molars diagnosed MIH, were analyzed with light microscopy and XMCT. The hypomineralized areas were mainly located in the mesio-buccal cusps, starting at the enamel-dentin-junction and continuing towards the enamel surface. In a relative gray scale analysis the values decreased from the EDJ towards the enamel surface. The findings indicate that the ameloblasts in the hypomineralized enamel are capable of forming an enamel of normal thickness, but with a substantial reduction of their capacity for maturation of enamel. Chronologically, it is estimated that the timing of the disturbance is at a period during the first 6-7 months of age.

  11. Resolution of Inflammation: What Controls Its Onset?

    Science.gov (United States)

    Sugimoto, Michelle A.; Sousa, Lirlândia P.; Pinho, Vanessa; Perretti, Mauro; Teixeira, Mauro M.

    2016-01-01

    An effective resolution program may be able to prevent the progression from non-resolving acute inflammation to persistent chronic inflammation. It has now become evident that coordinated resolution programs initiate shortly after inflammatory responses begin. In this context, several mechanisms provide the fine-tuning of inflammation and create a favorable environment for the resolution phase to take place and for homeostasis to return. In this review, we focus on the events required for an effective transition from the proinflammatory phase to the onset and establishment of resolution. We suggest that several mediators that promote the inflammatory phase of inflammation can simultaneously initiate a program for active resolution. Indeed, several events enact a decrease in the local chemokine concentration, a reduction which is essential to inhibit further infiltration of neutrophils into the tissue. Interestingly, although neutrophils are cells that characteristically participate in the active phase of inflammation, they also contribute to the onset of resolution. Further understanding of the molecular mechanisms that initiate resolution may be instrumental to develop pro-resolution strategies to treat complex chronic inflammatory diseases, in humans. The efforts to develop strategies based on resolution of inflammation have shaped a new area of pharmacology referred to as “resolution pharmacology.” PMID:27199985

  12. Awareness and Its Association With Affective Symptoms in Young-onset and Late-onset Alzheimer Disease: A Prospective Study

    NARCIS (Netherlands)

    Vliet, D. van; Vugt, M.E. de; Kohler, S.; Aalten, P.; Bakker, C.; Pijnenburg, Y.A.; Vernooij-Dassen, M.J.F.J.; Koopmans, R.T.C.M.; Verhey, F.R.J.

    2013-01-01

    BACKGROUND:: It is unknown whether there are differences between young-onset dementia and late-onset dementia in awareness levels and whether awareness is differentially associated with affective symptoms in both groups. The present study assesses possible differences between young-onset (YO-AD) and

  13. Hypoglycemia and hemostatic parameters in juvenile-onset diabetes

    DEFF Research Database (Denmark)

    Hilsted, J; Madsbad, S; Nielsen, J D;

    1980-01-01

    Hypoglycemia was induced by intravenous infusion of insulin in six juvenile-onset diabetic subjects. Hemostatic parameters were assessed before insulin infusion and 0, 1, and 2 h after discontinuation of insulin infusion. The onset of hypoglycemia coincided with an enhancement of ADP-induced plat......Hypoglycemia was induced by intravenous infusion of insulin in six juvenile-onset diabetic subjects. Hemostatic parameters were assessed before insulin infusion and 0, 1, and 2 h after discontinuation of insulin infusion. The onset of hypoglycemia coincided with an enhancement of ADP...... potentially lead to intravascular coagulation in juvenile-onset diabetic patients....

  14. Age at Onset and Clinical Correlates in Body Dysmorphic Disorder

    Science.gov (United States)

    Bjornsson, Andri S.; Didie, Elizabeth R.; Grant, Jon E.; Menard, William; Stalker, Emily; Phillips, Katharine A.

    2013-01-01

    OBJECTIVE Age at onset is an important clinical feature of all disorders. However, no prior studies have focused on this important construct in body dysmorphic disorder (BDD). In addition, across a number of psychiatric disorders, early age at disorder onset is associated with greater illness severity and greater comorbidity with other disorders. However, clinical correlates of age at onset have not been previously studied in BDD. METHODS Age at onset and other variables of interest were assessed in two samples of adults with DSM-IV BDD; sample 1 consisted of 184 adult participants in a study of the course of BDD, and sample 2 consisted of 244 adults seeking consultation or treatment for BDD. Reliable and valid measures were used. Subjects with early-onset BDD (age 17 or younger) were compared to those with late-onset BDD. RESULTS BDD had a mean age at onset of 16.7 (SD=7.3) in sample 1 and 16.7 (SD=7.2) in sample 2. 66.3% of subjects in sample 1 and 67.2% in sample 2 had BDD onset before age 18. A higher proportion of females had early-onset BDD in sample 1 but not in sample 2. On one of three measures in sample 1, those with early-onset BDD currently had more severe BDD symptoms. Individuals with early-onset BDD were more likely to have attempted suicide in both samples and to have attempted suicide due to BDD in sample 2. Early age at BDD onset was associated with a history of physical violence due to BDD and psychiatric hospitalization in sample 2. Those with early-onset BDD were more likely to report a gradual onset of BDD than those with late-onset in both samples. Participants with early-onset BDD had a greater number of lifetime comorbid disorders on both Axis I and Axis II in sample 1 but not in sample 2. More specifically, those with early-onset BDD were more likely to have a lifetime eating disorder (anorexia nervosa or bulimia nervosa) in both samples, a lifetime substance use disorder (both alcohol and non-alcohol) and borderline personality disorder

  15. Prevalence of non-motor symptoms in young-onset versus late-onset Parkinson's disease.

    Science.gov (United States)

    Spica, Vladana; Pekmezović, Tatjana; Svetel, Marina; Kostić, Vladimir S

    2013-01-01

    Non-motor symptoms (NMS) of Parkinson's disease (PD) have only recently been increasingly recognized for their impact on a patient's quality of life. In this study, we applied the validated, comprehensive self-completed NMS questionnaire for PD (NMS Quest) to 101 patients with young-onset PD (onset between 21 and 45 years, YOPD) and 107 patients with late-onset PD (onset of PD ≥ 55 years, LOPD). The mean total NMS (NMSQ-T) was 11.9 ± 6.0 (range: 0 to of a maximum of 26) in LOPD and 7.7 ± 5.8 (range: 0 to of a maximum of 26) in YOPD (p NMS more prevalent in YOPD were restless legs and sweating, although such findings might be associated with drug effects. Among the nine NMS Quest domains, in both LOPD and YOPD patients the three most prevalent domains were depression/anxiety, urinary and sexual. Also, in both groups, hallucinations/delusions had the lowest frequency. In the multivariate linear regression model, the Hoehn and Yahr (HY) stage of the disease and activities of daily living scores in YOPD patients, while only the HY stage in LOPD patients appeared to be statistically significant predictors of increasing number of NMS. In contrast to a previous suggestion that YOPD patients might have an increased risk for NMS, we found a higher prevalence of NMS in LOPD patients than in those with YOPD.

  16. Does early-onset multiple sclerosis differ from adult-onset form in Iranian people

    Directory of Open Access Journals (Sweden)

    Fereshteh Ashtari

    2010-01-01

    Full Text Available Background: Few studies have attempted to delineate the clinical profile of multiple Sclerosis (MS among people of Asia. This study sought to identify the characteristics of early-onset Multiple Sclerosis (EOMS comparison to adult-onset form (AOMS in Isfahan, IRAN. Methods: This prospective study was conducted on 104 youths with multiple sclerosis beginning before the age of 16 years and 123 patients with adult-onset multiple sclerosis. Patients were observed for a mean period of 5 years. The common presenting symptoms, MRI finding, course of disease and disability score were compared between the two groups. Results: The mean onset age of disease in youths and adults were 14 ± 1.9 and 27.7 ± 8.06 years, respectively. Female/male ratio was 4.47:1 in EOMS and 3.92:1 in AOMS, this ratio was 7:1 in early childhood MS (≤ 10 year. The most common presenting symptom was optic neuritis in the EOMS group and paresthesia in AOMS. Optic neuritis was common in AOMS too, but brainstem/cerebellar signs were more common in EOMS than AOMS. Seizure occurred more frequently in EOMS than in the AOMS group (12.6% vs. 1.6%, respectively, p < 0.001. MRI showed that brainstem plaques were more prevalent in the EOMS compared with the AOMS group. Conclusions: It was concluded that early-onset MS does not significantly differ from adult form in terms of major clinical manifestation and course of disease, however Seizure is more common in EOMS, and brainstem and cerebellar symptoms as presenting symptom are more common.

  17. Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.

    Science.gov (United States)

    Miyadera, Keiko; Kato, Kumiko; Boursnell, Mike; Mellersh, Cathryn S; Sargan, David R

    2012-02-01

    Cone-rod dystrophy (CRD) is a form of inherited retinal degeneration (RD) causing blindness in man as well as in several breeds of dog. Previously, a 44 bp insertion in RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein-1) was associated with a recessive early-onset CRD (cone-rod dystrophy 1, cord1) in a Miniature longhaired dachshund (MLHD) research colony. Yet in the MLHD pet population, extensive range of the onset age has been observed among RD cases, with some RPGRIP1(-/-) dogs lacking obvious clinical signs. Phenotypic variation has been known in human homologous diseases, including retinitis pigmentosa and Leber congenital amaurosis, indicating possible involvement of modifiers. To explore additional genetic loci associated with the phenotypic variation observed in MLHDs, a genome-wide association study was carried out using Canine SNP20 arrays in 83 RPGRIP1(-/-) MLHDs with variable ages of onset or no clinical abnormality. Using these samples, comparison of 31 early-onset RD cases against 49 controls (15 late-onset RD and 34 normal dogs combined) identified a strong association (P = 5.05 × 10(-13)) at a single locus on canine chromosome 15. At this locus, the majority of early-onset RD cases but few of the controls were homozygous for a 1.49 Mb interval containing ~11 genes. We conclude that homozygosity at both RPGRIP1 and the newly mapped second locus is necessary to develop early-onset RD, whereas RPGRIP1(-/-) alone leads to late-onset RD or no apparent clinical phenotype. This study establishes a unique model of canine RD requiring homozygous mutations at two distinct genetic loci for the manifestation of early-onset RD.

  18. Pregnancy outcomes in women with childhood-onset and adult-onset systemic lupus erythematosus: a comparative study.

    Science.gov (United States)

    Saavedra, Miguel Ángel; Miranda-Hernández, Dafhne; Sánchez, Antonio; Morales, Sara; Cruz-Domínguez, Pilar; Medina, Gabriela; Jara, Luis Javier

    2016-10-01

    To compare the maternal and fetal outcomes between childhood-onset and adult-onset systemic lupus erythematosus (SLE), we reviewed the medical records of SLE pregnant women treated from January 2005 to August 2013. For comparison, patients were allocated to one of the two groups, those pregnant patients with SLE onset before 18 years of age (childhood-onset) and ≥18 years (adult-onset). The patients were evaluated at least once in each trimester and postpartum. Relevant maternal and fetal outcomes were extracted, such as lupus flare, preeclampsia/eclampsia, rate of liveborns, fetal loss (spontaneous abortion and stillbirth), term delivery, preterm birth, neonatal death, low birth weight, low birth weight at term, and congenital malformations. We studied 186 pregnancies (in 180 women), 58 of them had childhood-onset SLE, and the remaining 128 had adult-onset SLE. The rate of maternal and fetal complications was similar in both groups. Multivariate analysis showed that active SLE before pregnancy, primigravida, renal flare, preeclampsia, lupus flare, anticardiolipin antibodies, and low serum complement were associated with an increased risk of poor maternal and fetal outcomes. The diagnosis of childhood-onset had no impact on maternal-fetal outcome. The maternal and fetal outcome in women with childhood-onset SLE is similar to that reported in women with adult-onset SLE. Pregnancy in women with childhood-onset SLE should not be contraindicated if the disease is well controlled.

  19. Pachyonychia congenita with late onset (PC tarda

    Directory of Open Access Journals (Sweden)

    A Sravanthi

    2016-01-01

    Full Text Available Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails. Follicular hyperkeratotic papules and steatocystoma multiplex were also observed over the scalp and face. The patient had history of natal teeth and on dental examination, lower central incisors were absent. All cutaneous changes in our case had manifested first in the 2nd decade except for natal teeth. All the above features suggested the diagnosis of pachyonychia congenita with late onset (PC tarda, which is an infrequently reported rare variant.

  20. Age at pubertal onset and educational outcomes

    DEFF Research Database (Denmark)

    Essen, Emma von; Dreber, Anna; Ranehill, Eva

    2011-01-01

    Education has important short and long run implications for individual outcomes. In this paper we explore the association between age at pubertal onset and educational outcomes in a sample of Swedish girls. Previous research suggests that girls that mature earlier perform worse in school compared...... to girls that mature later. To test if this is also true among Swedish girls, we investigate the association between pubertal development and grades, educational aspirations and educational choice. We also investigate whether changes in risk attitudes, time preferences and priorities concerning school...... versus friends mediate this potential correlation. We confirm that earlier maturing girls have lower grades and lower educational aspirations, but find that they make educational choices similar to those of later maturing girls. Furthermore, we do not find that these differences in grades and aspirations...

  1. Onset of chaotic advection in open flows.

    Science.gov (United States)

    Biemond, J J Benjamin; de Moura, Alessandro P S; Károlyi, György; Grebogi, Celso; Nijmeijer, Henk

    2008-07-01

    In this paper we investigate the transition to chaos in the motion of particles advected by open flows with obstacles. By means of a topological argument, we show that the separation points on the surface of the obstacle imply the existence of a saddle point downstream from the obstacle, with an associated heteroclinic orbit. We argue that as soon as the flow becomes time periodic, these orbits give rise to heteroclinic tangles, causing passively advected particles to experience transient chaos. The transition to chaos thus coincides with the onset of time dependence in open flows with stagnant points, in contrast with flows with no stagnant points. We also show that the nonhyperbolic nature of the dynamics near the walls causes anomalous scalings in the vicinity of the transition. These results are confirmed by numerical simulations of the two-dimensional flow around a cylinder.

  2. Onset of asymptotic scaling in deuteron photodisintegration

    CERN Document Server

    Rossi, P; Ronchetti, F; De Sanctis, E; Adams, G; Ambrozewicz, P; Anciant, E; Anghinolfi, M; Asavapibhop, B; Audit, G; Avakian, H; Bagdasaryan, H; Ball, J P; Barrow, S; Battaglieri, M; Beard, K; Bektasoglu, M; Bellis, M; Benmouna, N; Berman, B L; Bertozzi, W; Bianchi, N; Biselli, A S; Boiarinov, S; Bonner, B E; Bouchigny, S; Bradford, R; Branford, D; Briscoe, W J; Brooks, W K; Burkert, V D; Butuceanu, C; Calarco, J R; Carman, D S; Carnahan, B; Chen, S; Cole, P L; Cords, D; Corvisiero, P; Crabb, D; Crannell, H; Cummings, J P; De Vita, R; Degtyarenko, P V; Denizli, H; Dennis, L; Deppman, A; Dharmawardane, K V; Dhuga, K S; Djalali, C; Dodge, G E; Doughty, D; Dragovitsch, P; Dugger, M; Dytman, S; Dzyubak, O P; Egiyan, H; Egiyan, K S; Elouadrhiri, L; Empl, A; Eugenio, P; Fatemi, R; Feuerbach, R J; Ficenec, J; Forest, T A; Funsten, H; Gai, M; Gavalian, G; Gilad, S; Gilfoyle, G P; Giovanetti, K L; Gordon, C I O; Griffioen, K; Guidal, M; Guillo, M; Guo, L; Gyurjyan, V; Hadjidakis, C; Hakobyan, R S; Hardie, J; Heddle, D; Hersman, F W; Hicks, K; Hicks, R S; Holtrop, M; Hu, J; Hyde-Wright, C E; Ilieva, Y; Ito, M M; Jenkins, D; Jo, H S; Joo, K; Kellie, J D; Khandaker, M; Kim, K Y; Kim, K; Kim, W; Klein, A; Klein, F J; Klimenko, A V; Klusman, M; Kossov, M; Kramer, L H; Kühn, J; Kuhn, S E; Lachniet, J; Laget, J M; Lawrence, D; Ji Li; Lima, A C S; Livingston, K; Lukashin, K; Manak, J J; Marchand, C; McAleer, S; McCarthy, J; McNabb, J W C; Mecking, B A; Mehrabyan, S S; Melone, J J; Mestayer, M D; Meyer, C A; Mikhailov, K; Miskimen, R; Mokeev, V; Morand, L; Morrow, S A; Muccifora, V; Müller, J; Mutchler, G S; Napolitano, J; Nasseripour, R; Niccolai, S; Niculescu, G; Niculescu, I; Niczyporuk, B B; Niyazov, R A; Nozar, M; O'Brien, J T; O'Rielly, G V; Osipenko, M; Ostrovidov, A I; Park, K; Pasyuk, E A; Peterson, G; Philips, S A; Pivnyuk, N; Pocanic, D; Pogorelko, O I; Polli, E; Pozdniakov, S; Preedom, B M; Price, J W; Prok, Y; Protopopescu, D; Qin, L M; Raue, B A; Riccardi, G; Ricco, G; Ripani, M; Ritchie, B G; Rosner, G; Rowntree, D; Rubin, P D; Sabatie, F; Salgado, C; Santoro, J P; Sapunenko, V; Schumacher, R A; Serov, V S; Sharabyan, Yu G; Shaw, J; Simionatto, S; Skabelin, A V; Smith, E S; Smith, L C; Sober, D I; Spraker, M; Stavinsky, A V; Stepanyan, S; Stokes, B; Stoler, P; Strakovsky, I I; Strauch, S; Taiuti, M; Taylor, S; Tedeschi, D J; Thoma, U; Thompson, R; Tkabladze, A; Todor, L; Tur, C; Ungaro, M; Vineyard, M F; Vlassov, A V; Wang, K; Weinstein, L B; Weller, H; Weygand, D P; Whisnant, C S; Wolin, E; Wood, M H; Yegneswaran, A; Yun, J; Zhang, B; Zhou, Z

    2004-01-01

    We investigate the transition from the nucleon-meson to quark-gluon description of the strong interaction using the photon energy dependence of the deuteron photodisintegration differential cross section for photon energies above 0.5 GeV and center-of-mass proton angles between 30 and 150 degrees. A possible signature for this transition is the onset of cross section scaling at some incident energy. The results indicate a scaling threshold around the proton transverse momentum P_T = 1.0-1.3 GeV/c for angles between 60 and 130 degrees, and 0.6-0.9 GeV/c for forward and backward angles, with a nearly symmetric behavior around 90 degrees.

  3. Childhood-Onset Obsessive Compulsive Disorder

    Directory of Open Access Journals (Sweden)

    Murat Erdem

    2011-06-01

    Full Text Available Childhood-onset obsessive-compulsive disorder affects 1%-2% of children and adolescents. While symptoms reported by children and behavioral therapies and pharmacological interventions administered to children are similar to those seen among individuals who develop obsessive compulsive disorder in adulthood, there are several differences with regards to sex ratios, comorbidity patterns, neuroimaging findings. Family and twin studies support the role of genetics in some forms of obsessive compulsive disorder. Prefrontal cortex, cingulate cortex, thalamus, nucleus caudatus, putamen and globus pallidus are the main brain areas affected in children with obsessive compulsive disorder. Selective serotonin reuptake inhibitors (SSRI are the treatment of choice for pharmacotherapy of obsessive compulsive disorder and exposure and response prevention are the most commonly applied behavioral therapy methods in obsessive compulsive disorder. Despite advances in the treatment of the disorder, obsessive compulsive disorder is still considered as a debilitating chronic disorder.

  4. Nonsurgical Management of Early-onset Scoliosis.

    Science.gov (United States)

    Thorsness, Robert J; Faust, John R; Behrend, Caleb J; Sanders, James O

    2015-09-01

    Early-onset scoliosis is potentially fatal if left untreated. Although surgical management with growing instrumentation may be necessary, this is not a panacea and is associated with high complication rates. Recent evidence has demonstrated that nonsurgical treatment can be an effective early management strategy in delaying or even precluding the need for surgery, especially surgery with growing instrumentation. The goal of both nonsurgical and surgical management is to control or correct the spinal curve to allow appropriate pulmonary development while delaying definitive fusion until an appropriate skeletal age. Although more commonly used to delay surgery, serial cast correction using the Cotrel and Morel elongation-derotation-flexion technique may result in complete correction in patients with infantile idiopathic scoliosis and smaller curve magnitudes.

  5. Onset of Asymptotic Scaling in Deuteron Photodisintegration

    Science.gov (United States)

    Rossi, P.; Mirazita, M.; Ronchetti, F.; de Sanctis, E.; Adams, G.; Ambrozewicz, P.; Anciant, E.; Anghinolfi, M.; Asavapibhop, B.; Audit, G.; Avakian, H.; Bagdasaryan, H.; Ball, J. P.; Barrow, S.; Battaglieri, M.; Beard, K.; Bektasoglu, M.; Bellis, M.; Benmouna, N.; Berman, B. L.; Bertozzi, W.; Bianchi, N.; Biselli, A. S.; Boiarinov, S.; Bonner, B. E.; Bouchigny, S.; Bradford, R.; Branford, D.; Briscoe, W. J.; Brooks, W. K.; Burkert, V. D.; Butuceanu, C.; Calarco, J. R.; Carman, D. S.; Carnahan, B.; Chen, S.; Cole, P. L.; Cords, D.; Corvisiero, P.; Crabb, D.; Crannell, H.; Cummings, J. P.; de Vita, R.; Degtyarenko, P. V.; Denizli, H.; Dennis, L.; Deppman, A.; Dharmawardane, K. V.; Dhuga, K. S.; Djalali, C.; Dodge, G. E.; Doughty, D.; Dragovitsch, P.; Dugger, M.; Dytman, S.; Dzyubak, O. P.; Egiyan, H.; Egiyan, K. S.; Elouadrhiri, L.; Empl, A.; Eugenio, P.; Fatemi, R.; Feuerbach, R. J.; Ficenec, J.; Forest, T. A.; Funsten, H.; Gai, M.; Gavalian, G.; Gilad, S.; Gilfoyle, G. P.; Giovanetti, K. L.; Gordon, C. I.; Griffioen, K.; Guidal, M.; Guillo, M.; Guo, L.; Gyurjyan, V.; Hadjidakis, C.; Hakobyan, R. S.; Hardie, J.; Heddle, D.; Hersman, F. W.; Hicks, K.; Hicks, R. S.; Holtrop, M.; Hu, J.; Hyde-Wright, C. E.; Ilieva, Y.; Ito, M. M.; Jenkins, D.; Jo, H. S.; Joo, K.; Kellie, J. D.; Khandaker, M.; Kim, K. Y.; Kim, K.; Kim, W.; Klein, A.; Klein, F. J.; Klimenko, A. V.; Klusman, M.; Kossov, M.; Kramer, L. H.; Kuhn, J.; Kuhn, S. E.; Lachniet, J.; Laget, J. M.; Lawrence, D.; Li, Ji; Lima, A. C.; Livingston, K.; Lukashin, K.; Manak, J. J.; Marchand, C.; McAleer, S.; McCarthy, J.; McNabb, J. W.; Mecking, B. A.; Mehrabyan, S.; Melone, J. J.; Mestayer, M. D.; Meyer, C. A.; Mikhailov, K.; Miskimen, R.; Mokeev, V.; Morand, L.; Morrow, S. A.; Muccifora, V.; Mueller, J.; Mutchler, G. S.; Napolitano, J.; Nasseripour, R.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Niczyporuk, B. B.; Niyazov, R. A.; Nozar, M.; O'Brien, J. T.; O'Rielly, G. V.; Osipenko, M.; Ostrovidov, A.; Park, K.; Pasyuk, E.; Peterson, G.; Philips, S. A.; Pivnyuk, N.; Pocanic, D.; Pogorelko, O.; Polli, E.; Pozdniakov, S.; Preedom, B. M.; Price, J. W.; Prok, Y.; Protopopescu, D.; Qin, L. M.; Raue, B. A.; Riccardi, G.; Ricco, G.; Ripani, M.; Ritchie, B. G.; Rosner, G.; Rowntree, D.; Rubin, P. D.; Sabatié, F.; Salgado, C.; Santoro, J. P.; Sapunenko, V.; Schumacher, R. A.; Serov, V. S.; Sharabian, Y. G.; Shaw, J.; Simionatto, S.; Skabelin, A. V.; Smith, E. S.; Smith, L. C.; Sober, D. I.; Spraker, M.; Stavinsky, A.; Stepanyan, S.; Stokes, B.; Stoler, P.; Strakovsky, I. I.; Strauch, S.; Taiuti, M.; Taylor, S.; Tedeschi, D. J.; Thoma, U.; Thompson, R.; Tkabladze, A.; Todor, L.; Tur, C.; Ungaro, M.; Vineyard, M. F.; Vlassov, A. V.; Wang, K.; Weinstein, L. B.; Weller, H.; Weygand, D. P.; Whisnant, C. S.; Wolin, E.; Wood, M. H.; Yegneswaran, A.; Yun, J.; Zhang, B.; Zhou, Z.

    2005-01-01

    We investigate the transition from the nucleon-meson to the quark-gluon description of the strong interaction using the photon energy dependence of the d(γ,p)n differential cross section for photon energies above 0.5GeV and center-of-mass proton angles between 30° and 150°. A possible signature for this transition is the onset of cross-section s-11 scaling with the total energy squared, s, at some proton transverse momentum PT. The results show that the scaling has been reached for proton transverse momentum above about 1.1 GeV/c. This may indicate that the quark-gluon regime is reached above this momentum.

  6. Antihypertensive medication postpones the onset of glaucoma

    DEFF Research Database (Denmark)

    Horwitz, Anna; Klemp, Marc; Jeppesen, Jørgen

    2017-01-01

    The aim was to investigate the impact of antihypertensive medication on the onset of glaucoma. Data from the complete Danish population between 40 and 95 years of age were used in the period from 1996 to 2012, covering >2.6 million individuals. The National Danish Registry of Medicinal Products...... Statistics was used to identify all claimed prescriptions for glaucoma medication and antihypertensive drugs. We first investigated basic correlations in the data and found that patients treated with antihypertensive medication, at any time during the study period, had a significantly higher overall relative...... a regression discontinuity study design. This analysis provides our main finding, namely that prescription of antihypertensive medication leads to a significant reduction in the risk of developing glaucoma. Therefore, although hypertension—as indicated by the use of antihypertensive medication—is positively...

  7. [Treatability of sporadic late onset nemaline myopathy].

    Science.gov (United States)

    Hanisch, F; Schneider, I; Müller, T; Romeike, B F; Stoltenburg, G; Holzhausen, H J; Zierz, S

    2013-08-01

    Sporadic late onset nemaline myopathy (SLONM) is an extremely rare disorder which can be associated with monoclonal gammopathy of unclear significance (MGUS). Clinically SLONM appears mostly after the fourth decade of life as rapidly progressing tetraparesis, respiratory insufficiency and features, such as dropped head syndrome, facial and bulbar involvement. Diagnosis is confirmed by muscle biopsy with detection of nemaline bodies and also frequently lobulated fibres. Immunosuppressant and immunomodulating therapies have been shown to be ineffective but clinical improvement accompanied by disappearance of monoclonal gammopathy and even nemaline bodies was reported following autologous stem cell transplantation and chemotherapy with melphalan. This article presents the case of a 53-year-old man with a 4-year history of SLOMN with MGUS in which administration of intravenous immunoglobulin therapy (IVIG) was not successful in reversing gammopathy, histopathological changes or clinical symptoms.

  8. Pressure Gradient Evolution and Substorm Onset

    Science.gov (United States)

    Zhonghua, Y.; Pu, Z.; Cao, X.; Nishimura, T.; Zhang, H.; Fu, S.; Xie, L.; Guo, R.

    2011-12-01

    Near-Earth current disruption (NECD) and substorm current wedge (SCW) formation are two related key phenomena for substorm onset. They are believed to be in close association with evolution of pressure gradient near the inner edge of plasma sheet. In the past, a few attempts have been made to investigate the pressure gradient in the late growth phase based on one- or two-spacecraft observations (e.g. , Korth et al., 1991; Pu et al., 1992; Shiokawa et al., 1998; Xing et al., 2010, 2011,etc). In this paper, with linearization assumption in the inner-probe region, we use THEMIS three-probe measurements to estimate the pressure gradient near the inner edge of the equatorward and duskward (dawnward) plasma sheet where pressure gradient in the Z-direction is almost vanished. We therefore can roughly get the two-dimensional pressure gradient in the X- and Y-direction simultaneously. Our observations indicate that the pressure gradients in both the X- and Y-direction enhance right after (within one minute) substorm onset. The enhanced pressure gradient in the Y-direction is duskward (dawnward) when the probes are in the duskside (dawnside) of the enhanced earthward flow in the growth phase. The enhanced dawn-dusk pressure gradients can drive downward field-aligned current (FAC) on the dawnside and upward FAC on the duskside, thus make contributions to the NECD and formation of SCW. THEMIS in situ data and all-sky auroral images for two events are presented, followed by a brief discussion.

  9. Early-onset scoliosis: current treatment.

    Science.gov (United States)

    Cunin, V

    2015-02-01

    Early-onset scoliosis, which appears before the age of 10, can be due to congenital vertebral anomalies, neuromuscular diseases, scoliosis-associated syndromes, or idiopathic causes. It can have serious consequences for lung development and significantly reduce the life expectancy compared to adolescent scoliosis. Extended posterior fusion must be avoided to prevent the crankshaft phenomenon, uneven growth of the trunk and especially restrictive lung disease. Conservative (non-surgical) treatment is used first. If this fails, fusionless surgery can be performed to delay the final fusion procedure until the patient is older. The gold standard delaying surgical treatment is the implantation of growing rods as described by Moe and colleagues in the mid-1980s. These rods, which are lengthened during short surgical procedures at regular intervals, curb the scoliosis progression until the patient reaches an age where fusion can be performed. Knowledge of this technique and its complications has led to several mechanical improvements being made, namely use of rods that can be distracted magnetically on an outpatient basis, without the need for anesthesia. Devices based on the same principle have been designed that preferentially attach to the ribs to specifically address chest wall and spine dysplasia. The second category of surgical devices consists of rods used to guide spinal growth that do not require repeated surgical procedures. The third type of fusionless surgical treatment involves slowing the growth of the scoliosis convexity to help reduce the Cobb angle. The indications are constantly changing. Improvements in surgical techniques and greater surgeon experience may help to reduce the number of complications and make this lengthy treatment acceptable to patients and their family. Long-term effects of surgery on the Cobb angle have not been compared to those involving conservative "delaying" treatments. Because the latter has fewer complications associated with

  10. The risk factors for labor onset hypertension.

    Science.gov (United States)

    Ohno, Yasumasa; Terauchi, Mikio; Tamakoshi, Koji; Shiozaki, Arihiro; Saito, Shigeru

    2016-04-01

    Our aim was to clarify the perinatal outcomes of and risk factors for hypertension that is first detected after labor onset (labor onset hypertension, LOH), which may be a risk factor for eclampsia and stroke during labor. A total of 1349 parturient women who did not exhibit preeclampsia or gestational hypertension prior to labor were examined. The patients were classified into four groups: the normotensive (n=1023) (whose systolic blood pressure (SBP) remained below 140 mm Hg throughout labor), mild LOH (n=241) (whose maximum SBP during labor ranged from 140 to 159 mm Hg), severe LOH (n=66) (whose maximum SBP during labor ranged from 160 to 179 mm Hg) and emergent LOH groups (n=19) (whose maximum SBP during labor was greater than 180 mm Hg). The perinatal outcomes and patient characteristics of the four groups were compared. Twenty-four percent of the pregnant women who remained normotensive throughout pregnancy developed hypertension during labor. One of the patients in the emergent LOH group developed eclampsia. The blood pressure at delivery and frequencies of hypotensor use, interventional delivery and low Apgar scores differed significantly among the four groups. The following risk factors for severe/emergent LOH were extracted: being over 35 years old, a body mass index at delivery of >30, an SBP at 36 weeks' gestation of 130-134 mm Hg, an SBP at admission of 130-139 mm Hg, proteinuria (a score of 2+ on the dipstick test) and severe edema. The risk factors for severe/emergent LOH were identified in this study. In high risk cases, repeatedly measuring maternal blood pressure during delivery might help detect critical hypertension early.

  11. Myopia onset and role of peripheral refraction

    Directory of Open Access Journals (Sweden)

    Rotolo M

    2017-06-01

    Full Text Available Maurilia Rotolo,1,2 Giancarlo Montani,2 Raul Martin1,3 1Optometry Research Group, IOBA Eye Institute, School of Optometry, Universidad de Valladolid, Valladolid, Spain; 2Optics and Optometry, Corso di Ottica e Optometria, Universita del Salento, Lecce, Italy; 3Faculty of Health and Human Sciences, School of Health Professions, Plymouth University, Peninsula Allied Health Centre, Plymouth, UK Background: To determine the peripheral refraction characteristics related to 18-month changes in refraction in Caucasian (Mediterranean children.Methods: Non-cycloplegic peripheral refraction at 10° intervals over the central ±30° of horizontal visual field over 18 months (baseline, 12 months, and 18 months of follow-up was conducted in 50 healthy children who were 8 years old. Axial length (AL was also recorded. Relative peripheral refraction (RPR was calculated and eyes were divided into three study groups: non-myopic eyes, myopic eyes, and eyes that develop myopia.Results: Myopic eyes showed hyperopic RPR and emetropic and hyperopic eyes showed myopic RPR. Univariate analysis of variance did not find any statistically significant effect of peripheral refraction (F36=0.13; P=1.00 and RPR (F36=0.79; P=0.80 on myopia onset (eyes that developed myopia along the study. All the studied groups showed an increase of AL, without statistically significant differences between the studied groups (F6=0.09; P=0.99.Conclusion: Hyperopic relative peripheral shift change in eyes that develop myopia has been found with differences in RPR between myopic (hyperopic RPR and hyperopic or emmetropic eyes (with myopic RPR. The results suggest that RPR cannot predict development or progression of myopia in Caucasian (Mediterranean children and the efficacy in slowing myopia progression obtained with treatments that manipulate the peripheral refraction is not just driven with RPR. Keywords: myopia, refractive errors, myopia onset, peripheral refraction, relative peripheral

  12. Clinical characteristics of early- and late-onset gout

    Science.gov (United States)

    Zhang, Bingqing; Fang, Weigang; Zeng, Xuejun; Zhang, Yun; Ma, Ya; Sheng, Feng; Zhang, Xinlei

    2016-01-01

    Abstract A retrospective cross-sectional study using data from an outpatient clinic in China was conducted to investigate the clinical features of early-onset gout patients. All patients diagnosed with gout were asked about clinical characteristics of their gout and comorbid diseases. Patients presenting with acute flares were asked about common triggers before the flare. “Early-onset” gout was defined as onset of gout before 40 years and “late-onset” as onset ≥40 years. Major joint involvement, flare frequency before presentation, the cumulative number of involved joints, proportions of tophi complications at presentation, flare triggers, as well as any metabolic, cardiovascular, cerebrovascular, and renal comorbidities, were compared between the 2 groups. A total of 778 gout patients were enrolled in this study, including 449 (57.7%) in the early-onset group and 329 (42.3%) in the late-onset group. Compared with the late-onset gout patients, the early-onset gout patients had a higher proportion of ankle/mid-foot involvement (62.8% vs 48.2%, P gout patients had fewer metabolic, cardiovascular, cerebrovascular, or renal complications. Early- and late-onset gout patients had different clinical features. Early-onset seems to be influenced more by lifestyle, while late-onset patients have more complications because of comorbidities. PMID:27893683

  13. Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Betensky Rebecca A

    2011-05-01

    Full Text Available Abstract Background Peroxisome proliferator-activated receptor-γ co-activator (PGC-1α is a transcriptional co-activator of antioxidant genes and a master regulator of mitochondrial biogenesis. Parkinson's disease (PD is associated with oxidative stress and mitochondrial dysfunction and recent work suggests a role for PGC-1α. We hypothesized that the rs8192678 PGC-1α single nucleotide polymorphism (SNP may influence risk or age of onset of PD. The A10398G mitochondrial SNP has been inversely associated with risk of PD in some studies. In the current study we analyzed whether rs8192678 or other PGC-1α SNPs affect PD risk or age of onset, singularly or in association with the A10398G SNP. Methods Genomic DNA samples from 378 PD patients and 173 age-matched controls were analyzed by multiplexed probe sequencing, followed by statistical analyses of the association of each SNP, alone or in combination, with risk or age of onset of PD. Adjustments were made for age of onset being less than the age of sampling, and for the observed dependence between these two ages. The PD samples were obtained as two separate cohorts, therefore statistical methods accounted for different sampling methods between the two cohorts, and data were analyzed using Cox regression adjusted for sampling in the risk set definition and in the model. Results The rs8192678 PGC-1α SNP was not associated with the risk of PD. However, an association of the PGC-1α rs8192678 GG variant with longevity was seen in control subjects (p = 0.019. Exploratory studies indicated that the CC variant of rs6821591 was associated with risk of early onset PD (p = 0.029, with PD age of onset (p = 0.047, and with longevity (p = 0.022. The rs2970848 GG allele was associated with risk of late onset PD (p = 0.027. Conclusions These data reveal possible associations of the PGC-1α SNPs rs6821591 and rs2970848 with risk or age of onset of PD, and of the PGC-1α rs8192678 GG and the rs6821591 CC

  14. Emotion regulation difficulties in trauma survivors: the role of trauma type and PTSD symptom severity

    NARCIS (Netherlands)

    Ehring, T.; Quack, D.

    2010-01-01

    Two different hypotheses regarding the relationship between emotion regulation and PTSD are described in the literature. First, it has been suggested that emotion regulation difficulties are part of the complex sequelae of early-onset chronic interpersonal trauma and less common following late-onset

  15. Mapping neurogenesis onset in the optic tectum of Xenopus laevis

    Science.gov (United States)

    Herrgen, Leah; Akerman, Colin J.

    2016-01-01

    Neural progenitor cells have a central role in the development and evolution of the vertebrate brain. During early brain development, neural progenitors first expand their numbers through repeated proliferative divisions and then begin to exhibit neurogenic divisions. The transparent and experimentally accessible optic tectum of Xenopus laevis is an excellent model system for the study of the cell biology of neurogenesis, but the precise spatial and temporal relationship between proliferative and neurogenic progenitors has not been explored in this system. Here we construct a spatial map of proliferative and neurogenic divisions through lineage tracing of individual progenitors and their progeny. We find a clear spatial separation of proliferative and neurogenic progenitors along the anterior-posterior axis of the optic tectum, with proliferative progenitors located more posteriorly and neurogenic progenitors located more anteriorly. Since individual progenitors are repositioned toward more anterior locations as they mature, this spatial separation likely reflects an increased restriction in the proliferative potential of individual progenitors. We then examined whether the transition from proliferative to neurogenic behavior correlates with cellular properties that have previously been implicated in regulating neurogenesis onset. Our data reveal that the transition from proliferation to neurogenesis is associated with a small change in cleavage plane orientation and a more pronounced change in cell cycle kinetics in a manner reminiscent of observations from mammalian systems. Our findings highlight the potential to use the optic tectum of Xenopus laevis as an accessible system for the study of the cell biology of neurogenesis. PMID:27358457

  16. Neuronal correlates of facial emotion discrimination in early onset schizophrenia.

    Science.gov (United States)

    Seiferth, Nina Y; Pauly, Katharina; Kellermann, Thilo; Shah, N Jon; Ott, Gudrun; Herpertz-Dahlmann, Beate; Kircher, Tilo; Schneider, Frank; Habel, Ute

    2009-01-01

    Emotion discrimination deficits represent a well-established finding in schizophrenia. Although imaging studies addressed the cerebral dysfunctions underlying emotion perception in adult patients, the question of trait vs state characteristics is still unresolved. The investigation of juvenile patients offers the advantage of studying schizophrenia at an age where influences of illness course and long-term medication are minimized. This may enable a more detailed characterization of emotion discrimination impairments and their cerebral correlates with respect to their appearance and exact nature. A total of 12 juvenile patients with early onset schizophrenia and matched healthy juveniles participated in this study. fMRI data were acquired during an emotion discrimination task consisting of standardized photographs of faces displaying happy, sad, angry, fearful, or neutral facial expression. Similar to findings in adult patients, juvenile patients exhibited reduced performance specificity whereas sensitivity was unaffected. Independent of the valence, their processing of emotional faces was associated with hypoactivations in both fusiform gyri and in the left inferior occipital gyrus. In addition, hyperactivations in patients were found in the right cuneus common to happy, angry, and fearful faces. Further, most distinct changes were present in juvenile patients when processing sad faces. These results point to a dysfunction in cerebral circuits relevant for emotion processing already prominent in adolescent schizophrenia patients. Regions affected by a decrease in activation are related to visual and face processing, similar to deficits reported in adult patients. These changes are accompanied by hyperactivations in areas related to emotion regulation and attribution, possibly reflecting compensatory mechanisms.

  17. The onset of nonmotor symptoms in Parkinson's disease (the ONSET PD study).

    Science.gov (United States)

    Pont-Sunyer, Claustre; Hotter, Anna; Gaig, Carles; Seppi, Klaus; Compta, Yaroslau; Katzenschlager, Regina; Mas, Natalia; Hofeneder, Dominik; Brücke, Thomas; Bayés, Angels; Wenzel, Karoline; Infante, Jon; Zach, Heidemarie; Pirker, Walter; Posada, Ignacio J; Álvarez, Ramiro; Ispierto, Lourdes; De Fàbregues, Oriol; Callén, Antoni; Palasí, Antoni; Aguilar, Miquel; Martí, Maria José; Valldeoriola, Francesc; Salamero, Manel; Poewe, Werner; Tolosa, Eduardo

    2015-02-01

    Nonmotor symptoms (NMS) in Parkinson's disease (PD) can precede onset of motor symptoms. Relationship between premotor symptoms onset and motor features is limited. Our aim is to describe the presence and perceived onset of NMS in PD as well as their possible association with motor phenotype. Presence and onset of NMS were assessed by a custom-made questionnaire in 109 newly diagnosed untreated PD patients and 107 controls from 11 Spanish and Austrian centers. Seventeen of thirty-one NMS were more common in patients than controls (P symptoms. Anhedonia, apathy, memory complaints, and inattention occurred more frequently during the 2-year premotor period. Those reported more frequently in the 2- to 10-year premotor period were smell loss, mood disturbances, taste loss, excessive sweating, fatigue, and pain. Constipation, dream-enacting behavior, excessive daytime sleepiness, and postprandial fullness were frequently perceived more than 10 years before motor symptoms. No correlation between NMS burden and motor severity, age, or gender was observed. NMS associated in four clusters: rapid eye movement sleep behavior disorder symptoms-constipation, cognition-related, mood-related, and sensory clusters. No cluster was associated with a specific motor phenotype or severity. NMS are common in early unmedicated PD and frequently reported to occur in the premotor period. They are generally mild, but a patient subgroup showed high NMS burden mainly resulting from cognition-related symptoms. Certain NMS when present at the time of assessment or in the premotor stage, either alone or in combination, allowed discriminating PD from controls.

  18. [Chronic hallucinatory psychosis and late onset schizophrenia: the same entity?].

    Science.gov (United States)

    Dubertret, C; Gorwood, P; Adès, J

    1997-01-01

    The distinction between schizophrenia and chronic delusion syndromes (such as paraphrenia, late-paraphrenia and "Psychose Hallucinatoire Chronique") is currently used in France, although there is no international criteria (ICD 10 or DSM IV) for chronic delusion syndromes. It is thus worth analysing the literature in order to compare the differences between late-onset schizophrenia and "Psychose Hallucinatoire Chronique", and the similarities between young-onset schizophrenia and chronic delusion syndromes. Clinical investigations clearly differentiate "Psychose Hallucinatoire Chronique" and late-onset-schizophrenia from young-onset schizophrenia because they have more delusion and hallucinatory symptoms, less negative symptoms, better evolution, and better sensitivity to antipsychotic drugs. Epidemiological data show that "Psychose Hallucinatoire Chronique" and late-onset schizophrenia have both a different sex-ratio (around 7 women for 1 man) than young-onset schizophrenia (nearly 1 woman for 1 man), and that in "Psychose Hallucinatoire Chronique" and in late-onset schizophrenia, social withdrawal is frequently observed before onset of the disorder. Lastly, putative risk factors may be shared by "Psychose Hallucinatoire Chronique" and late-onset schizophrenia, and may isolate them from young-onset schizophrenia, for example regarding the oestradiol hypothesis (oestradiol enhance dopamine efficacy and delay the onset of delusion disorders), the impact of sensory handicaps (which may be clinically and experimentally associated with hallucinations), or the role of genetic and familial factors (with a familial concentration intermediate between the familial concentration of schizophrenia of schizophrenic proband, and the familial concentration of schizophrenia of control probands). In accordance with this review of the literature, the authors conclude that the absence of specific criteria for late-onset schizophrenia and/or "Psychose Hallucinatoire Chronique" In

  19. Market, Regulation, Market, Regulation

    DEFF Research Database (Denmark)

    Frankel, Christian; Galland, Jean-Pierre

    2015-01-01

    This paper focuses on the European Regulatory system which was settled both for opening the Single Market for products and ensuring the consumers' safety. It claims that the New Approach and Standardization, and the Global Approach to conformity assessment, which suppressed the last technical...... barriers to trade in Europe, realized the free movement of products by organizing progressively several orders of markets and regulation. Based on historical and institutional documents, on technical publications, and on interviews, this article relates how the European Commission and the Member States had...... alternatively recourse to markets and to regulations, at the three main levels of the New Approach Directives implementation. The article focuses also more specifically on the Medical Devices sector, not only because this New Approach sector has long been controversial in Europe, and has recently been concerned...

  20. Market, Regulation, Market, Regulation

    DEFF Research Database (Denmark)

    Frankel, Christian; Galland, Jean-Pierre

    2015-01-01

    This paper focuses on the European Regulatory system which was settled both for opening the Single Market for products and ensuring the consumers' safety. It claims that the New Approach and Standardization, and the Global Approach to conformity assessment, which suppressed the last technical...... barriers to trade in Europe, realized the free movement of products by organizing progressively several orders of markets and regulation. Based on historical and institutional documents, on technical publications, and on interviews, this article relates how the European Commission and the Member States had...... alternatively recourse to markets and to regulations, at the three main levels of the New Approach Directives implementation. The article focuses also more specifically on the Medical Devices sector, not only because this New Approach sector has long been controversial in Europe, and has recently been concerned...

  1. An onset is an onset: Evidence from abstraction of newly-learned phonotactic constraints.

    Science.gov (United States)

    Bernard, Amélie

    2015-01-01

    Phonotactic constraints are language-specific patterns in the sequencing of speech sounds. Are these constraints represented at the syllable level (ng cannot begin syllables in English) or at the word level (ng cannot begin words)? In a continuous recognition-memory task, participants more often falsely recognized novel test items that followed than violated the training constraints, whether training and test items matched in word structure (one or two syllables) or position of restricted consonants (word-edge or word-medial position). E.g., learning that ps are onsets and fs codas, participants generalized from pef (one syllable) to putvif (two syllables), and from putvif (word-edge positions) to bufpak (word-medial positions). These results suggest that newly-learned phonotactic constraints are represented at the syllable level. The syllable is a representational unit available and spontaneously used when learning speech-sound constraints. In the current experiments, an onset is an onset and a coda a coda, regardless of word structure or word position.

  2. Social phobia with sudden onset-Post-panic social phobia?

    DEFF Research Database (Denmark)

    Kristensen, Ann Suhl; Mortensen, Erik Lykke; Mors, Ole

    2008-01-01

    Overlap between social phobia (SP) and panic disorder (PD) has been observed in epidemiological, family, and challenge studies. One possible explanation is that some cases of SP develop as a consequence of a panic attack in a social situation. By definition, these cases of SP have sudden onset....... It is hypothesized that patients with SP with sudden onset are more similar to patients with comorbid SP and PD than to patients with SP without sudden onset regarding age of onset, extraversion, and prevalence of anxiety symptoms. One hundred and eighty-two patients with a lifetime diagnosis of PD and/or SP were...

  3. Measurement of Voice Onset Time in Maxillectomy Patients

    Directory of Open Access Journals (Sweden)

    Mariko Hattori

    2014-01-01

    Full Text Available Objective speech evaluation using acoustic measurement is needed for the proper rehabilitation of maxillectomy patients. For digital evaluation of consonants, measurement of voice onset time is one option. However, voice onset time has not been measured in maxillectomy patients as their consonant sound spectra exhibit unique characteristics that make the measurement of voice onset time challenging. In this study, we established criteria for measuring voice onset time in maxillectomy patients for objective speech evaluation. We examined voice onset time for /ka/ and /ta/ in 13 maxillectomy patients by calculating the number of valid measurements of voice onset time out of three trials for each syllable. Wilcoxon’s signed rank test showed that voice onset time measurements were more successful for /ka/ and /ta/ when a prosthesis was used (Z=−2.232, P=0.026 and Z=−2.401, P=0.016, resp. than when a prosthesis was not used. These results indicate a prosthesis affected voice onset measurement in these patients. Although more research in this area is needed, measurement of voice onset time has the potential to be used to evaluate consonant production in maxillectomy patients wearing a prosthesis.

  4. Onset of Reconnection in the near Magnetotail: PIC Simulations

    Science.gov (United States)

    Liu, Yi-Hsin; Birn, Joachim; Daughton, William; Hesse, Michael; Schindler, Karl

    2014-01-01

    Using 2.5-dimensional particle-in-cell (PIC) simulations of magnetotail dynamics, we investigate the onset of reconnection in two-dimensional tail configurations with finite Bz. Reconnection onset is preceded by a driven phase, during which magnetic flux is added to the tail at the high-latitude boundaries, followed by a relaxation phase, during which the configuration continues to respond to the driving. We found a clear distinction between stable and unstable cases, dependent on deformation amplitude and ion/electron mass ratio. The threshold appears consistent with electron tearing. The evolution prior to onset, as well as the evolution of stable cases, are largely independent of the mass ratio, governed by integral flux tube entropy conservation as imposed in MHD (magnetohydrodynamics). This suggests that ballooning instability in the tail should not be expected prior to the onset of tearing and reconnection. The onset time and other onset properties depend on the mass ratio, consistent with expectations for electron tearing. At onset,we found electron anisotropies T?/ T? (bottom tail divided by parallel tail) equals 1.1-1.3, raising growth rates and wavenumbers. Our simulations have provided a quantitative onset criterion that is easily evaluated in MHD simulations, provided the spatial resolution is sufficient. The evolution prior to onset and after the formation of a neutral line does not depend on the electron physics, which should permit an approximation by MHD simulations with appropriate dissipation terms.

  5. Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys

    Directory of Open Access Journals (Sweden)

    Rodolfo eRey

    2014-05-01

    Full Text Available In early fetal development, the testis secretes –independently of pituitary gonadotropins– androgens and anti-Müllerian hormone (AMH which are essential for male sex differentiation. In the second half of fetal life, the hypothalamic-pituitary axis gains control of testicular hormone secretion. FSH controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas LH regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic-pituitary-gonadal axis in the male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3-6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic-pituitary-testicular axis in boys suspected of fetal-onset hypogonadism.

  6. Post-Traumatic Late Onset Cerebral Ischemia

    Directory of Open Access Journals (Sweden)

    Gencer Genc

    2014-03-01

    Full Text Available Artery-to-artery emboli or occlusion of craniocervical arteries mostly due to dissection are the most common causes of ischemia after trauma. A 29 year-old male had been admitted to another hospital with loss of consciousness lasting for about 45 minutes after a hard parachute landing without head trauma three days ago. As his neurological examination and brain CT were normal, he had been discharged after 24 hours of observation. Two days after his discharge, he was admitted to our department with epileptic seizure. His neurological examination revealed left hemianopia. After observing occipital subacute ischemia at right side in brain magnetic resonance imaging (MRI, we performed cerebral angiography and no dissection was observed. Excluding the rheumatologic, cardiologic and vascular events, our final diagnosis was late onset cerebral ischemia. Anti-edema and antiepileptic treatment was initiated. He was discharged with left hemianopia and mild cognitive deficit. We suggest that it will be wise to hospitalize patients for at least 72 hours who has a history of unconsciousness following trauma.

  7. Spring bloom onset in the Nordic Seas

    Science.gov (United States)

    Mignot, Alexandre; Ferrari, Raffaele; Mork, Kjell Arne

    2016-06-01

    The North Atlantic spring bloom is a massive annual growth event of marine phytoplankton, tiny free-floating algae that form the base of the ocean's food web and generates a large fraction of the global primary production of organic matter. The conditions that trigger the onset of the spring bloom in the Nordic Seas, at the northern edge of the North Atlantic, are studied using in situ data from six bio-optical floats released north of the Arctic Circle. It is often assumed that spring blooms start as soon as phytoplankton cells daily irradiance is sufficiently abundant that division rates exceed losses. The bio-optical float data instead suggest the tantalizing hypothesis that Nordic Seas blooms start when the photoperiod, the number of daily light hours experienced by phytoplankton, exceeds a critical value, independently of division rates. The photoperiod trigger may have developed at high latitudes where photosynthesis is impossible during polar nights and phytoplankton enters into a dormant stage in winter. While the first accumulation of biomass recorded by the bio-optical floats is consistent with the photoperiod hypothesis, it is possible that some biomass accumulation started before the critical photoperiod but at levels too low to be detected by the fluorometers. More precise observations are needed to test the photoperiod hypothesis.

  8. Onset of sidebranching in directional solidification.

    Science.gov (United States)

    Echebarria, Blas; Karma, Alain; Gurevich, Sebastian

    2010-02-01

    We use a computationally efficient phase-field formulation [B. Echebarria, Phys. Rev. E 70, 061604 (2004)] to investigate the origin and dynamics of sidebranching in directional solidification for realistic parameters of a dilute alloy previously studied experimentally [M. Gorgelin and A. Pocheau, Phys. Rev. E 57, 3189 (1998)]. Sidebranching is found to result either from noise amplification or from deterministic oscillations that exist both in two dimensions and in a three-dimensional thin-sample geometry. The oscillatory branch of growth solutions bifurcates subcritically from the main steady-state branch of solutions and exists over a finite range of large array spacings. In contrast, noise-induced sidebranching is associated with a smooth transition where the sidebranching amplitude increases exponentially with spacing up to nonlinear saturation due to the overlap of diffusion fields from neighboring cells, as observed experimentally. In the latter case where sidebranching is noise-induced, we find that increasing the externally imposed thermal gradient reduces the onset velocity and wavelength of sidebranching, as also observed experimentally. We show that this counterintuitive effect is due to tip blunting with increasing thermal gradient that promotes noise amplification in the tip region.

  9. Systemic-onset juvenile idiopathic arthritis.

    Science.gov (United States)

    Cimaz, Rolando

    2016-09-01

    Systemic-onset juvenile idiopathic arthritis (SoJIA) is a systemic inflammatory disease which has up to now been classified as a category of juvenile idiopathic arthritis. However, in this context, systemic inflammation has been associated with dysregulation of the innate immune system, suggesting that it may rather be part of the spectrum of autoinflammatory disorders. The disease is in fact unique with regard to the other JIA categories, in terms of clinical manifestations, prognosis, and response to conventional immunosuppressant therapies. It is characterized clinically by fever, lymphadenopathy, arthritis, rash, and serositis. IL-1 and IL-6 play a major role in the pathogenesis of SoJIA, and treatment with IL-1 and IL-6 inhibitors has shown to be highly effective. However, complications of SoJIA, including macrophage activation syndrome, limitations in functional outcome by arthritis and long-term damage from chronic inflammation continue to be a major issue in patients' care. Recent advances on the pathogenesis and treatment have revolutionized the care and prognosis of this potentially life-threatening pediatric condition.

  10. Solitary magnetic perturbations at the ELM onset

    CERN Document Server

    Wenninger, RP; Boom, JE; Burckhart, A; Dunne, MG; Dux, R; Eich, T; Fischer, R; Fuchs, C; Garcia-Munoz, M; Igochine, V; Hoelzl, M; Luhmann, NC; Lunt, T; Maraschek, M; Mueller, HW; Park, HK; Schneider, PA; Sommer, F; Suttrop, W; Viezzer, E

    2012-01-01

    Edge localised modes (ELMs) allow maintaining sufficient purity of tokamak H-mode plasmas and thus enable stationary H-mode. On the other hand in a future device ELMs may cause divertor power flux densities far in excess of tolerable material limits. The size of the energy loss per ELM is determined by saturation effects in the non-linear phase of the ELM, which at present is hardly understood. Solitary magnetic perturbations (SMPs) are identified as dominant features in the radial magnetic fluctuations below 100kHz. They are typically observed close (+-0.1ms) to the onset of pedestal erosion. SMPs are field aligned structures rotating in the electron diamagnetic drift direction with perpendicular velocities of about 10km/s. A comparison of perpendicular velocities suggests that the perturbation evoking SMPs is located at or inside the separatrix. Analysis of very pronounced examples showed that the number of peaks per toroidal turn is 1 or 2, which is clearly lower than corresponding numbers in linear stabil...

  11. Violence in childhood-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Susan Lurie

    2013-02-01

    Full Text Available Violence is elevated in older adolescents and adults with schizophrenia; however, little is known about younger children. This report focuses on rates of violence in younger children with schizophrenic-spectrum illnesses. A retrospective review of structured diagnostic interviews from a case series of 81 children, ages 4-15 years of age, with childhood onset of schizophrenic-spectrum illness is reported. Seventy-two percent of children had a history of violent behavior, including 25 children (31% with a history of severe violence. Of those with a history of violence, 60% had a least one episode of violence that did not appear to be in response to an external stimulus (internally driven violence. There was no significant impact of age or gender. For many children, these internally driven violent episodes were rare and unpredictable, but severe. Similar to what is found in adolescents and adults, violence is common in children with schizophrenic-spectrum illnesses. General violence prevention strategies combined with early identification and treatment of childhood psychotic illnesses may decrease the morbidity associated with childhood psychotic violence.

  12. Laser homeostatics on delayed onset muscle soreness

    Science.gov (United States)

    Liu, T. C. Y.; Fu, D. R.; Liu, X. G.; Tian, Z. X.

    2011-01-01

    Delayed onset muscle soreness (DOMS) and its photobiomodulation were reviewed from the viewpoint of function-specific homeostasis (FSH) in this paper. FSH is a negative-feedback response of a biosystem to maintain the function-specific fluctuations inside the biosystem so that the function is perfectly performed. A stressor may destroy a FSH. A stress is a response of a biosystem to a stressor and may also be in stress-specific homeostasis (StSH). A low level light (LLL) is so defined that it has no effects on a function in its FSH or a stress in its StSH, but it modulate a function far from its FSH or a stress far from its StSH. For DOMS recovery, protein metabolism in the Z-line streaming muscular cell is the essential process, but the inflammation, pain and soreness are non-essential processes. For many DOMS phenomena, protein metabolism in the Z-line streaming muscular cell is in protein metabolism-specific homeostasis (PmSH) so that there are no effects of LLL although the inflammation can be inhibited and the pain can be relieved. An athlete or animal in the dysfunctional conditions such as blood flow restriction and exercise exhaustion is far from PmSH and the protein metabolism can be improved with LLL.

  13. Gluten encephalopathy with psychiatric onset: case report

    Directory of Open Access Journals (Sweden)

    Costantini Chiara

    2009-06-01

    Full Text Available Abstract Many cases of coeliac disease, a gastrointestinal autoimmune disorder caused by sensitivity to gluten, can remain in a subclinical stage or undiagnosed. In a significant proportion of cases (10–15% gluten intolerance can be associated with central or peripheral nervous system and psychiatric disorders. A 38-year-old man was admitted as to our department an inpatient for worsening anxiety symptoms and behavioural alterations. After the addition of second generation antipsychotic to the therapeutic regimen, the patient presented neuromotor impairment with high fever, sopor, leukocytosis, raised rhabdomyolysis-related indicators. Neuroleptic malignant syndrome was strongly suspected. After worsening of his neuropsychiatric conditions, with the onset of a frontal cognitive deficit, bradykinesia and difficulty walking, dysphagia, anorexia and hypoferraemic anaemia, SPET revealed a reduction of cerebral perfusion and ENeG results were compatible with a mainly motor polyneuropathy. Extensive laboratory investigations gave positive results for anti-gliadin antibodies, and an appropriate diet led to a progressive remission of the encephalopathy.

  14. Evaluation of onset of nucleate boiling models

    Energy Technology Data Exchange (ETDEWEB)

    Huang, LiDong [Heat Transfer Research, Inc., College Station, TX (United States)], e-mail: lh@htri.net

    2009-07-01

    This article discusses available models and correlations for predicting the required heat flux or wall superheat for the Onset of Nucleate Boiling (ONB) on plain surfaces. It reviews ONB data in the open literature and discusses the continuing efforts of Heat Transfer Research, Inc. in this area. Our ONB database contains ten individual sources for ten test fluids and a wide range of operating conditions for different geometries, e.g., tube side and shell side flow boiling and falling film evaporation. The article also evaluates literature models and correlations based on the data: no single model in the open literature predicts all data well. The prediction uncertainty is especially higher in vacuum conditions. Surface roughness is another critical criterion in determining which model should be used. However, most models do not directly account for surface roughness, and most investigators do not provide surface roughness information in their published findings. Additional experimental research is needed to improve confidence in predicting the required wall superheats for nucleation boiling for engineering design purposes. (author)

  15. [Early onset scoliosis. What are the options?].

    Science.gov (United States)

    Farrington, D M; Tatay-Díaz, A

    2013-01-01

    The prognosis of children with progressive early onset scoliosis has improved considerably due to recent advances in surgical and non-surgical techniques and the understanding of the importance of preserving the thoracic space. Improvements in existing techniques and development of new methods have considerably improved the management of this condition. Derotational casting can be considered in children with documented progression of a <60° curve without previous surgical treatment. Both single and dual growing rods are effective, but the latter seem to offer better results. Hybrid constructs may be a better option in children who require a low-profile proximal anchor. The vertical expandable prosthetic titanium rib (VEPTR(®)) appears to be beneficial for patients with congenital scoliosis and fused ribs, and thoracic Insufficiency Syndrome. Children with medical comorbidities who may not tolerate repeated lengthenings should be considered for Shilla or Luque Trolley technique. Growth modulation using shape memory alloy staples or other tethers seem promising for mild curves, although more research is required to define their precise indications. Copyright © 2013 SECOT. Published by Elsevier Espana. All rights reserved.

  16. How to investigate new-onset polyarthritis.

    Science.gov (United States)

    Kumar, Ashok

    2014-12-01

    Polyarthritis comprises a large number of conditions ranging from rheumatoid arthritis (RA) to metabolic conditions such as ochronosis. Differential diagnosis begins with delineation of inflammatory from non-inflammatory disorders using laboratory markers of inflammation. The latter are good but they can be misleading. Laboratory tests help in the diagnosis of rheumatic diseases as well as their prognostication. The choice of serological tests should be based on clinical differential diagnosis and not 'arthritis panels'. The point of time when the test is performed in the clinical course of disease can have an important influence on the result obtained. Anti-citrullinated protein antibody (ACPA), rheumatoid factor, human leucocyte antigen (HLA) B27 and imaging are routinely employed for the early diagnosis of RA and spondyloarthritis (SpA). Despite advances in musculoskeletal imaging modalities such as ultrasonography (USG) with power Doppler, conventional as well as extremity magnetic resonance imaging (MRI) and dual-energy computed tomography (DECT), their exact place in clinical rheumatology remains to be defined. Synovial fluid examination has only a limited role in the investigations of new-onset polyarthritis.

  17. Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

    Directory of Open Access Journals (Sweden)

    Dorra Hmida-Ben Brahim

    2014-01-01

    Full Text Available Huntington’s disease (HD is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.

  18. The gene coding for PGC-1α modifies age at onset in Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Oberkofler Hannes

    2009-01-01

    Full Text Available Abstract Huntington's disease (HD is one of the most common autosomal dominant inherited, neurodegenerative disorders. It is characterized by progressive motor, emotional and cognitive dysfunction. In addition metabolic abnormalities such as wasting and altered energy expenditure are increasingly recognized as clinical hallmarks of the disease. HD is caused by an unstable CAG repeat expansion in the HD gene (HTT, localized on chromosome 4p16.3. The number of CAG repeats in the HD gene is the main predictor of disease-onset, but the remaining variation is strongly heritable. Transcriptional dysregulation, mitochondrial dysfunction and enhanced oxidative stress have been implicated in the pathogenesis. Recent studies suggest that PGC-1α, a transcriptional master regulator of mitochondrial biogenesis and metabolism, is defective in HD. A genome wide search for modifier genes of HD age-of-onset had suggested linkage at chromosomal region 4p16-4p15, near the locus of PPARGC1A, the gene coding for PGC-1α. We now present data of 2-loci PPARGC1A block 2 haplotypes, showing an effect upon age-at-onset in 447 unrelated HD patients after statistical consideration of CAG repeat lengths in both HTT alleles. Block 1 haplotypes were not associated with the age-at-onset. Homozygosity for the 'protective' block 2 haplotype was associated with a significant delay in disease onset. To our knowledge this is the first study to show clinically relevant effects of the PGC-1α system on the course of Huntington's disease in humans.

  19. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

    Science.gov (United States)

    Andresen, J Michael; Gayán, Javier; Djoussé, Luc; Roberts, Simone; Brocklebank, Denise; Cherny, Stacey S; Cardon, Lon R; Gusella, James F; MacDonald, Marcy E; Myers, Richard H; Housman, David E; Wexler, Nancy S

    2007-05-01

    Age of onset for Huntington's disease (HD) varies inversely with the length of the disease-causing CAG repeat expansion in the HD gene. A simple exponential regression model yielded adjusted R-squared values of 0.728 in a large set of Venezuelan kindreds and 0.642 in a North American, European, and Australian sample (the HD MAPS cohort). We present evidence that a two-segment exponential regression curve provides a significantly better fit than the simple exponential regression. A plot of natural log-transformed age of onset against CAG repeat length reveals this segmental relationship. This two-segment exponential regression on age of onset data increases the adjusted R-squared values by 0.012 in the Venezuelan kindreds and by 0.035 in the HD MAPS cohort. Although the amount of additional variance explained by the segmental regression approach is modest, the two slopes of the two-segment regression are significantly different from each other in both the Venezuelan kindreds [F(2, 439) = 11.13, P= 2 x 10(-5)] and in the HD MAPS cohort [F(2, 688) = 38.27, P= 2 x 10(-16)]. In both populations, the influence of each CAG repeat on age of onset appears to be stronger in the adult-onset range of CAG repeats than in the juvenile-onset range.

  20. Late-onset hypogonadism: beyond testosterone

    Directory of Open Access Journals (Sweden)

    Carlo Foresta

    2015-04-01

    Full Text Available Late-onset hypogonadism is defined as a combination of low testosterone (T levels and typical symptoms and signs. A major area of uncertainty is whether T concentrations are always really sufficient to fully reflect Leydig cell (dysfunction. Mild testicular alteration could be diagnosed only by additional biochemical markers, such as luteinizing hormone (LH and 25-hydroxyvitamin D levels. These markers help in identifying the so-called "subclinical" hypogonadism (normal T, high LH levels. Patients with hypogonadism have frequently low levels of 25-hydroxyvitamin D due to impairment of the hydroxylating enzyme CYP2R1 in the testis. However, no data have been published dealing with the best treatment option (cholecalciferol - the Vitamin D precursor, or calcidiol - 25-hydroxylated form of Vitamin D in these patients. We studied 66 patients with classic hypogonadism (total T [TT] <12 nmol l−1 , LH ≥ 8 IU l−1 (n = 26 and subclinical hypogonadism (TT ≥ 12 nmol l−1 , LH ≥ 8 IU l−1 (n = 40 and low 25-hydroxyvitamin D (<50 nmol l−1 . Subjects received cholecalciferol (5000 IU per week (n = 20 or calcidiol (4000 IU per week (n = 46, and 25-hydroxyvitamin D and parathyroid hormone (PTH were evaluated after 3 months of therapy. Supplementation with calcidiol significantly increased 25-hydroxyvitamin D and significantly decreased PTH levels in both groups of men with hypogonadism (primary, n = 16 and subclinical, n = 30, whereas supplementation with cholecalciferol did not modify their levels. This study shows for the first time that the administration of the 25-hydroxylated form of Vitamin D (calcidiol, and not the administration of the precursor cholecalciferol, restores 25-hydroxyvitamin D levels in subjects with hypogonadism.

  1. Adult-onset Still's disease: Clinical cases

    Directory of Open Access Journals (Sweden)

    G. R. Imametdinova

    2014-01-01

    Full Text Available The annual incidence of adult-onset Still's disease (AOSD worldwide is 0.16 cases per 100,000 persons. Its leading symptoms are joint involvement, fever, skin rash, and neutrophilic leukocytosis in the absence of rheumatoid factor and anticyclic citrullinated peptide antibodies in serum and synovial fluid. In its initial stage, there may be monoarthritis more commonly of the wrist, hip, or knee. Then the lesion assumes the pattern of oligo- or polyarthritis. Musculoskeletal involvement appearing as arthralgia, arthritis, and myalgia is noted in all patients. In the majority of patients, articular involvement progresses and destructive polyarthritis develops. Symmetric involvement of the carpophalangeal and distal interphalangeal joints is frequently detected. Skin lesion manifests itself as maculopapular or roseolous rashes on the chest, back, shoulders, occasionally on the legs, or in the areas of mechanical irritation. A sore throat with the signs of pharyngitis is a characteristic early symptom of the disease. There may be involvements of the liver, cardiovascular system, lung, as well as lymphadenopathy, or splenomegaly. The chronic course of the disease is more frequently noted.The paper describes two cases of AOSD. One case demonstrates that the physician has no experience in diagnosing and managing patients with AOSD, resulting in the misinterpretation of the increase in disease activity when the subclinical doses of methotrexate (MT are used, which has been regarded as a therapeutic complication. The use of the adequate dose of MT could achieve a clinical and laboratory remission and discontinue glucocorticoids (GC.In the other case of recurrent AOSD and mild clinical symptoms, the unreasonable use of high GC doses gave rise to adverse reactions.

  2. Adult-onset Still's disease: Clinical cases

    Directory of Open Access Journals (Sweden)

    G. R. Imametdinova

    2014-12-01

    Full Text Available The annual incidence of adult-onset Still's disease (AOSD worldwide is 0.16 cases per 100,000 persons. Its leading symptoms are joint involvement, fever, skin rash, and neutrophilic leukocytosis in the absence of rheumatoid factor and anticyclic citrullinated peptide antibodies in serum and synovial fluid. In its initial stage, there may be monoarthritis more commonly of the wrist, hip, or knee. Then the lesion assumes the pattern of oligo- or polyarthritis. Musculoskeletal involvement appearing as arthralgia, arthritis, and myalgia is noted in all patients. In the majority of patients, articular involvement progresses and destructive polyarthritis develops. Symmetric involvement of the carpophalangeal and distal interphalangeal joints is frequently detected. Skin lesion manifests itself as maculopapular or roseolous rashes on the chest, back, shoulders, occasionally on the legs, or in the areas of mechanical irritation. A sore throat with the signs of pharyngitis is a characteristic early symptom of the disease. There may be involvements of the liver, cardiovascular system, lung, as well as lymphadenopathy, or splenomegaly. The chronic course of the disease is more frequently noted.The paper describes two cases of AOSD. One case demonstrates that the physician has no experience in diagnosing and managing patients with AOSD, resulting in the misinterpretation of the increase in disease activity when the subclinical doses of methotrexate (MT are used, which has been regarded as a therapeutic complication. The use of the adequate dose of MT could achieve a clinical and laboratory remission and discontinue glucocorticoids (GC.In the other case of recurrent AOSD and mild clinical symptoms, the unreasonable use of high GC doses gave rise to adverse reactions.

  3. Shift in Indian summer monsoon onset during 1976/1977

    Science.gov (United States)

    Sahana, A. S.; Ghosh, Subimal; Ganguly, Auroop; Murtugudde, Raghu

    2015-05-01

    The Indian summer monsoon rainfall (ISMR) contributes nearly 80% of the annual rainfall over India and has a significant influence on the country’s gross domestic product through the agricultural sector. Onset of the ISMR displays substantial interannual variability and controls the crop calendar and hence the agricultural output. This variability is traditionally linked to sea surface temperature (SST) anomalies over the tropical Pacific Ocean. The tropical Pacific SST underwent a regime shift during 1976/77. We report a prominent delay in the Indian summer monsoon (ISM) onset following the regime shift. The onset dates are computed with the Hydrologic Onset and Withdrawal Index, based on vertically integrated moisture transport over the Arabian Sea (AS). The shift in onset is found to be due to the change in moisture availability over the AS. A delay in the development of easterly vertical shear reduces northward-propagating intraseasonal variability during May-June, limiting the moisture supply from the equatorial Indian Ocean (IO) to the AS. This, along with enhanced precipitation over the IO during the pre-monsoon, drives a reduction in moisture availability over the AS region from pre- to post-1976/77, delaying the ISM onset in recent decades. Our findings highlight the need for the re-assessment of the crop calendar in India, which is now based on the mean onset date computed from long-term data, without considering the regime shift or trends in onset.

  4. Genetic influence on the age at onset of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon Francis; Duffy, David Lorenzo; Kyvik, Kirsten Ohm;

    2010-01-01

    Although the genetics of asthma susceptibility have been frequently explored, little is known about genetic factors that influence the age at onset of asthma.......Although the genetics of asthma susceptibility have been frequently explored, little is known about genetic factors that influence the age at onset of asthma....

  5. Solar wind control of the local time of substorm onset

    Science.gov (United States)

    Grocott, Adrian; Case, Nathan; Laundal, Karl; Laurens, Hannah; Milan, Steve

    2017-04-01

    We use solar wind and interplanetary magnetic field data, along with satellite global auroral imagery, to investigate what controls the magnetic local time (MLT) of substorm onset. We find that substorm onsets occur over a wide range of MLTs (18 - 4 hrs), with a typical MLT (mode) of 23 hrs. In agreement with previous studies, IMF BY , acts to move the onset to an earlier/later local time in the northern hemisphere and a later/earlier local time in the southern hemisphere, depending on the sign of BY , consistent with a twist of the conjugate magnetic field line. This effect explains a small fraction of the observed MLT variation (˜ 1 hr), but cannot account for the tendency of onset to be often displaced to earlier ( 23 hrs) MLTs in both hemispheres. We also inspect the relationship between solar wind V Y and onset MLT, which also has a small, but measurable effect on the local time of substorm onset. This effect acts in the same sense in the northern and southern hemispheres, moving onset to earlier times for positive V Y and later times for negative V Y . We find that a function relating both BY and V Y to onset MLT produces a better fit than a function based on either parameter alone.

  6. Crawling-Onset Age Predicts Visual Cliff Avoidance in Infants.

    Science.gov (United States)

    Richards, John E.; Rader, Nancy

    1981-01-01

    Two experiments tested the effects of crawling-onset age, amount of crawling experience, and testing age on avoidance of the deep side of a visual cliff apparatus by human infants. Crawling-onset age disciminated between infants because crawling during the tactile phase interferes with later visual control of locomotion. (Author/RD)

  7. Asynchronous onset of clinical disease in BSE-infected macaques.

    Science.gov (United States)

    Montag, Judith; Schulz-Schaeffer, Walter; Schrod, Annette; Hunsmann, Gerhard; Motzkus, Dirk

    2013-07-01

    To estimate the effect of the variability of prion disease onset on primary bovine spongiform encephalopathy transmission to humans, we studied 6 cynomolgus macaques. The preclinical incubation period was significantly prolonged in 2 animals, implying that onset of variant Creutzfeldt-Jacob disease in humans could be more diverse than previously expected.

  8. DNAJC6 Mutations Associated with Early-Onset Parkinson's Disease

    NARCIS (Netherlands)

    S. Olgiati (Simone); M. Quadri (Marialuisa); M. Fang (Mingyan); J.P.M.A. Rood (Janneke P.M.A.); J.A. Saute (Jonas A.); H.F. Chien (Hsin Fen); C.G. Bouwkamp (Christian); J. Graafland (Josja); M. Minneboo (Michelle); G.J. Breedveld (Guido J.); J. Zhang (Jianguo); F.W. Verheijen (Frans W.); A.J.W. Boon (Agnita J.W.); A.J.A. Kievit (Anneke J.A.); L.B. Jardim (L.); W.J. Mandemakers (Wim); E.R. Barbosa (Egberto Reis); C.R.M. Rieder (Carlos); K.L. Leenders (Klaus L.); J. Wang (Jinxia); V. Bonifati (Vincenzo)

    2016-01-01

    markdownabstract_Objective_ DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the

  9. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

    NARCIS (Netherlands)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P. M. A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Boon, Agnita J. W.; Kievit, Anneke J. A.; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R. M.; Leenders, Klaus L.; Wang, Jun; Bonifati, Vincenzo

    ObjectiveDNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age MethodsThe DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity

  10. Response of high-energy particle precipitation to substorm onset

    Science.gov (United States)

    Kellerman, A. C.; Makarevich, R. A.

    2008-12-01

    The process of extra-terrestrial radiowave absorption by ionospheric electrons is known as cosmic noise absorption (CNA) and is routinely detected by ground-based relative opacity meters or riometers, which are sensitive to high-energy particle precipitation (>10 keV). In this study, we investigate the response of high- energy particle precipitation to substorm onset by employing a 7×7-beam imaging riometer system in Northern Scandinavia, IRIS, and the substorm onset database from the IMAGE satellite. The CNA response is investigated with respect to substorm location relative to IRIS. Instantaneous responses are mostly observed when IRIS is located on the same magnetic parallel as the substorm onset region. We investigate dispersionless injections (DIs) associated with substorm onsets as detected by the imaging riometer. It is shown that an auroral absorption signature is present predominantly for DIs located westward of IRIS, which is consistent with high-energy particles propagating eastward from substorm injection location. Superposed epoch analysis of CNA relative to substorm onset timing shows a strong dependence on the azimuthal sector in which the onset is located relative to IRIS. Rapid responses are observed in 90-135 deg geographic azimuths indicating fast westward and poleward propagation from onset location. Responses to onsets located between -90 to -180 deg show a monotonic decrease in rise time. The results are examined in the context of the geosynchronous LANL and GOES satellite data in order to investigate the two propagation mechanisms: expansion of injection region and particle drift.

  11. The poor prognosis of childhood-onset bipolar disorder

    NARCIS (Netherlands)

    Leverich, Gabriele S.; Post, Robert M.; Keck, Paul E.; Altshuler, Lori L.; Frye, Mark A.; Kupka, Ralph W.; Nolen, Willem A.; Suppes, Trisha; McElroy, Susan L.; Grunze, Heinz; Denicoff, Kirk; Moravec, Maria K. M.; Luckenbaugh, David

    2007-01-01

    Objective We examined age of onset of bipolar disorder as a potential course-of-iflness modifier with the hypothesis that early onset will engender more severe illness. Study design A total of 480 carefully diagnosed adult outpatients with bipolar disorder (mean age, 42.5 +/- 11.6 years) were retros

  12. Hypocretin deficiency develops during onset of human narcolepsy with cataplexy

    DEFF Research Database (Denmark)

    Savvidou, Andri; Knudsen, Stine; Olsson-Engman, Mia;

    2013-01-01

    Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans.......Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans....

  13. New-onset diabetes mellitus after kidney transplantation in Denmark

    DEFF Research Database (Denmark)

    Hornum, Mads; Jørgensen, Kaj Anker; Hansen, Jesper Melchior;

    2010-01-01

    This study aimed to investigate the development of new-onset diabetes mellitus (NODM) in a prospective study of 97 nondiabetic uremic patients.......This study aimed to investigate the development of new-onset diabetes mellitus (NODM) in a prospective study of 97 nondiabetic uremic patients....

  14. Onset and Offset as Determinants of the Simon Effect

    Science.gov (United States)

    Riggio, Lucia; Gherri, Elena; Lupianez, Juan

    2012-01-01

    We investigated the presence and the characteristics of the Simon effect for onset and offset targets when these stimuli are randomly intermixed. In Experiment 1, two possible target locations were occupied by an occluder. On onset trials, a target appeared above an occluder, while on offset trials one of the occluders disappeared, revealing the…

  15. Attention Deficit Hyperactivity Disorder Symptoms Mediate Early-Onset Smoking

    NARCIS (Netherlands)

    Huizink, A.C.; Lier, P.A.C. van; Crijnen, A.A.M.

    2009-01-01

    Background/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based, randomized c

  16. Attention deficit hyperactivity disorder symptoms mediate early-onset smoking

    NARCIS (Netherlands)

    Huizink, A.C.; Van Lier, P.A.C.; Crijnen, A.A.M.

    2009-01-01

    Background/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based, randomized c

  17. Attention deficit hyperactivity disorder symptoms mediate early-onset smoking

    NARCIS (Netherlands)

    A.C. Huizink (Anja); P.A.C. van Lier (Pol); A.A.M. Crijnen (Alfons)

    2008-01-01

    textabstractBackground/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based,

  18. Psychiatric Comorbidity in Children with New Onset Epilepsy

    Science.gov (United States)

    Jones, Jana E.; Watson, Ryann; Sheth, Raj; Caplan, Rochelle; Koehn, Monica; Seidenberg, Michael; Hermann, Bruce

    2007-01-01

    The aim of this study was to characterize the distribution, timing, and risk factors for psychiatric comorbidity in children with recent onset epilepsy. Children aged 8 to 18 years with recent onset epilepsy (less than 1 year in duration) of idiopathic etiology (n=53) and a healthy comparison group (n=50) underwent a structured psychiatric…

  19. A Study of Single and Multiple Onset Substorms

    Science.gov (United States)

    Larson, R. B.; Stoner, J. M.; Erickson, K. N.; Engebretson, M. J.; Scudder, J. D.; Frey, H. U.; Russell, C. T.

    2007-12-01

    A good indicator of substorm expansion phase onset is a well-defined increase and/or energization of the HYDRA electron flux measured onboard POLAR when the satellite is on the night side in the central region of the near earth plasmasheet. This signature is usually, but not always, accompanied by a dipolarization of the magnetic field. Another clear indicator of expansion phase onset is a well-defined increase in the z-component of the magnetic field which is indicative of dipolarization on the night side at geostationary orbit. Substorm events for this study were selected using these two indicators. 34 expansion phase onsets were found using the HYDRA instrument and 119 onsets were found using GOES 10 satellite data. For event selection the GSM coordinates of POLAR were constrained as follows: -9 < x < -7, -2 < y < 2, -1 < z < 1 in units of earth radii. The GOES 10 location was subject to the requirement that the satellite was located within 3 hours either side of local midnight. As expected these onset times were found to be closely correlated with the onset of ground-based auroral zone enhanced Pi2 activity and magnetic bays. Multiple onset substorms were distinguished from single onset events by observing the occurrence of one or more additional subsequent Pi2 intensifications and negative bays corresponding to enhancements of the westward electrojet. For several events, when data was available, auroral brightenings at the equatorward edge of discrete arcs as observed by the FUV experiment onboard the IMAGE spacecraft were also found to be closely correlated with not only the initial Pi2 intensification but also with subsequent Pi2 intensifications. The ratio of multiple onset to single onset substorms was found to be 2.3:1. Using Pi2 and IMAGE FUV data it was found that the initial onset of a multiple onset substorm usually corresponds to Pi2 intensifications and auroral brightening signatures at a lower auroral zone latitude than for a single onset event. In

  20. Brightening of onset arc precedes the dipolarization onset: THEMIS observations of two events on 1 March 2008

    Science.gov (United States)

    Kan, J. R.; Li, H.; Wang, C.; Frey, H. U.; Kubyshkina, M. V.; Runov, A.; Xiao, C. J.; Lyu, L. H.; Sun, W.

    2011-11-01

    We present a new M-I coupling model of substorm during southward IMF based on the THEMIS observations of two events on 1 March 2008. The first event (E-1) was classified as a pseudo-breakup: brightening of the onset arc preceded the first dipolarization onset by ∼71 ± 3 s, but the breakup arcs faded within ∼5 min without substantial poleward expansion and the dipolarization stopped and reversed to thinning. The second event (E-2) was identified as a substorm: brightening of the second onset arc preceded the second dipolarization onset by ∼80 ± 3 s, leading to a full-scale expanding auroral bulge during the substorm expansion phase for ∼20 min. The Alfvén travel time from the ionosphere to the dipolarization onset region is estimated at ∼69.3 s in E-1; at ∼80.3 s in E-2, which matched well with the observed time delay of the dipolarization onset after the brightening of the onset arc, respectively in E-1 and E-2. Brightening of the onset arc precedes the dipolarization onset suggest that the onset arc brightening is caused by the intense upward field-aligned currents originating from the divergence of the Cowling electrojet in the ionosphere. The Cowling electrojet current loop (CECL) is formed to close the field-aligned currents at all times. The closure current in the Alfvén wavefront is anti-parallel to the cross-tail current. Dipolarization onset occurs when the Alfvén wavefront incident on the near-Earth plasma sheet to disrupt the cross-tail current in the dipolarization region. Slow MHD waves dominate the disruption of the cross-tail current in the dipolarization region.

  1. Brightening of onset arc precedes the dipolarization onset: THEMIS observations of two events on 1 March 2008

    Directory of Open Access Journals (Sweden)

    J. R. Kan

    2011-11-01

    Full Text Available We present a new M-I coupling model of substorm during southward IMF based on the THEMIS observations of two events on 1 March 2008. The first event (E-1 was classified as a pseudo-breakup: brightening of the onset arc preceded the first dipolarization onset by ∼71 ± 3 s, but the breakup arcs faded within ∼5 min without substantial poleward expansion and the dipolarization stopped and reversed to thinning. The second event (E-2 was identified as a substorm: brightening of the second onset arc preceded the second dipolarization onset by ∼80 ± 3 s, leading to a full-scale expanding auroral bulge during the substorm expansion phase for ∼20 min. The Alfvén travel time from the ionosphere to the dipolarization onset region is estimated at ∼69.3 s in E-1; at ∼80.3 s in E-2, which matched well with the observed time delay of the dipolarization onset after the brightening of the onset arc, respectively in E-1 and E-2. Brightening of the onset arc precedes the dipolarization onset suggest that the onset arc brightening is caused by the intense upward field-aligned currents originating from the divergence of the Cowling electrojet in the ionosphere. The Cowling electrojet current loop (CECL is formed to close the field-aligned currents at all times. The closure current in the Alfvén wavefront is anti-parallel to the cross-tail current. Dipolarization onset occurs when the Alfvén wavefront incident on the near-Earth plasma sheet to disrupt the cross-tail current in the dipolarization region. Slow MHD waves dominate the disruption of the cross-tail current in the dipolarization region.

  2. The prediction of late-onset preeclampsia: Results from a longitudinal proteomics study

    Science.gov (United States)

    Erez, Offer; Romero, Roberto; Maymon, Eli; Chaemsaithong, Piya; Done, Bogdan; Pacora, Percy; Panaitescu, Bogdan; Chaiworapongsa, Tinnakorn; Hassan, Sonia S.

    2017-01-01

    Background Late-onset preeclampsia is the most prevalent phenotype of this syndrome; nevertheless, only a few biomarkers for its early diagnosis have been reported. We sought to correct this deficiency using a high through-put proteomic platform. Methods A case-control longitudinal study was conducted, including 90 patients with normal pregnancies and 76 patients with late-onset preeclampsia (diagnosed at ≥34 weeks of gestation). Maternal plasma samples were collected throughout gestation (normal pregnancy: 2–6 samples per patient, median of 2; late-onset preeclampsia: 2–6, median of 5). The abundance of 1,125 proteins was measured using an aptamers-based proteomics technique. Protein abundance in normal pregnancies was modeled using linear mixed-effects models to estimate mean abundance as a function of gestational age. Data was then expressed as multiples of-the-mean (MoM) values in normal pregnancies. Multi-marker prediction models were built using data from one of five gestational age intervals (8–16, 16.1–22, 22.1–28, 28.1–32, 32.1–36 weeks of gestation). The predictive performance of the best combination of proteins was compared to placental growth factor (PIGF) using bootstrap. Results 1) At 8–16 weeks of gestation, the best prediction model included only one protein, matrix metalloproteinase 7 (MMP-7), that had a sensitivity of 69% at a false positive rate (FPR) of 20% (AUC = 0.76); 2) at 16.1–22 weeks of gestation, MMP-7 was the single best predictor of late-onset preeclampsia with a sensitivity of 70% at a FPR of 20% (AUC = 0.82); 3) after 22 weeks of gestation, PlGF was the best predictor of late-onset preeclampsia, identifying 1/3 to 1/2 of the patients destined to develop this syndrome (FPR = 20%); 4) 36 proteins were associated with late-onset preeclampsia in at least one interval of gestation (after adjustment for covariates); 5) several biological processes, such as positive regulation of vascular endothelial growth factor

  3. Effects of chemical complexity on the autoxidation mechanisms of endocyclic alkene ozonolysis products

    DEFF Research Database (Denmark)

    Rissanen, Matti P.; Kurtén, Theo; Sipilä, Mikko

    2015-01-01

    , enabling more oxygen molecules to attach to the carbon backbone. Dimer distributions are proposed to form by homogeneous peroxy radical recombination and cross combination reactions. These conclusions were supported by experiments where H atoms were exchanged to D atoms by addition of D2

  4. SAPS onset timing during substorms and the westward traveling surge

    Science.gov (United States)

    Mishin, Evgeny, V.

    2016-07-01

    We present multispacecraft observations in the magnetosphere and conjugate ionosphere of the onset time of subauroral polarization streams (SAPS) and tens of keV ring current injections on the duskside in three individual substorms. This is probably the first unequivocal determination of the substorm SAPS onset timing. The time lag between the SAPS and substorm onsets is much shorter than the gradient-curvature drift time of ˜10 keV ions in the plasmasphere. It seemingly depends on the propagation time of substorm-injected plasma from the dipolarization onset region to the plasmasphere, as well as on the SAPS position. These observations suggest that fast onset SAPS and ring current injections are causally related to the two-loop system of the westward traveling surge.

  5. Soil temperature triggers the onset of photosynthesis in Korean pine.

    Science.gov (United States)

    Wu, Jiabing; Guan, Dexin; Yuan, Fenhui; Wang, Anzhi; Jin, Changjie

    2013-01-01

    In forest ecosystems, the onset of spring photosynthesis may have an important influence on the annual carbon balance. However, triggers for the onset of photosynthesis have yet to be clearly identified, especially for temperate evergreen conifers. The effects of climatic factors on recovery of photosynthetic capacity in a Korean pine forest were investigated in the field. No photosynthesis was detectable when the soil temperature was below 0 °C even if the air temperature was far beyond 15 °C. The onset of photosynthesis and sap flow was coincident with the time of soil thawing. The rates of recovery of photosynthetic capacity highly fluctuated with air temperature after onset of photosynthesis, and intermittent frost events remarkably inhibited the photosynthetic capacity of the needles. The results suggest that earlier soil thawing is more important than air temperature increases in triggering the onset of photosynthesis in Korean pine in temperate zones under global warming scenarios.

  6. Soil Temperature Triggers the Onset of Photosynthesis in Korean Pine

    Science.gov (United States)

    Wu, Jiabing; Guan, Dexin; Yuan, Fenhui; Wang, Anzhi; Jin, Changjie

    2013-01-01

    In forest ecosystems, the onset of spring photosynthesis may have an important influence on the annual carbon balance. However, triggers for the onset of photosynthesis have yet to be clearly identified, especially for temperate evergreen conifers. The effects of climatic factors on recovery of photosynthetic capacity in a Korean pine forest were investigated in the field. No photosynthesis was detectable when the soil temperature was below 0°C even if the air temperature was far beyond 15°C. The onset of photosynthesis and sap flow was coincident with the time of soil thawing. The rates of recovery of photosynthetic capacity highly fluctuated with air temperature after onset of photosynthesis, and intermittent frost events remarkably inhibited the photosynthetic capacity of the needles. The results suggest that earlier soil thawing is more important than air temperature increases in triggering the onset of photosynthesis in Korean pine in temperate zones under global warming scenarios. PMID:23755227

  7. Slow saccades in bulbar-onset motor neurone disease.

    Science.gov (United States)

    Donaghy, Colette; Pinnock, Ralph; Abrahams, Sharon; Cardwell, Chris; Hardiman, Orla; Patterson, Victor; McGivern, R Canice; Gibson, J Mark

    2010-07-01

    Historical studies of eye movements in motor neurone disease (MND) have been conflicting although current findings suggest that eye movement abnormalities relate to frontal lobe impairment. Numerous case reports, however, describe slow saccades and supranuclear gaze palsies in patients with MND often associated with bulbar-onset disease. We performed a study of saccades and smooth pursuit in a large group of patients with MND to examine for any differences between bulbar-onset and spinal-onset patients. Forty-four patients (14 bulbar-onset and 30 spinal-onset patients) and 45 controls were recruited. Reflexive saccades, antisaccades and smooth pursuit were examined using infra-red oculography and all subjects then underwent neuropsychological evaluation. Reflexive saccades were found to be slower in bulbar-onset compared to spinal-onset patients and controls (p = 0.03, p = 0.05). Antisaccade latency (p = 0.01) and antisaccade type 1 errors (p = 0.03, p = 0.04) were increased in patients compared to controls. 'Proportion of time spent in smooth pursuit' and smooth pursuit 'velocity gain' were reduced in patients compared to controls (p = 0.000, p = 0.001). Antisaccade errors and velocity gain correlated with neuropsychological measures sensitive to lesions of the frontal lobes. This is the first study to highlight the presence of slow saccades in bulbar-onset MND. These findings suggest that slow saccades may be due to increased brainstem pathology in bulbar-onset disease that involves burst cell neurons. Furthermore these observations highlight the potential for overlap between bulbar-onset MND and progressive supranuclear palsy (PSP) as both can have a bulbar palsy and slowed saccades.

  8. Pediatric-Onset and Adult-Onset Separation Anxiety Disorder Across Countries in the World Mental Health Survey

    NARCIS (Netherlands)

    Silove, Derrick; Alonso, Jordi; Bromet, Evelyn; Gruber, Mike; Sampson, Nancy; Scott, Kate; Andrade, Laura; Benjet, Corina; Caldas de Almeida, Jose Miguel; De Girolamo, Giovanni; de Jonge, Peter; Demyttenaere, Koen; Fiestas, Fabian; Florescu, Silvia; Gureje, Oye; He, Yanling; Karam, Elie; Lepine, Jean-Pierre; Murphy, Sam; Villa-Posada, Jose; Zarkov, Zahari; Kessler, Ronald C.

    Objective: The age-at-onset criterion for separation anxiety disorder was removed in DSM-5, making it timely to examine the epidemiology of separation anxiety disorder as a disorder with onsets spanning the life course, using cross-country data. Method: The sample included 38,993 adults in 18

  9. Pediatric-Onset and Adult-Onset Separation Anxiety Disorder Across Countries in the World Mental Health Survey

    NARCIS (Netherlands)

    Silove, Derrick; Alonso, Jordi; Bromet, Evelyn; Gruber, Mike; Sampson, Nancy; Scott, Kate; Andrade, Laura; Benjet, Corina; Caldas de Almeida, Jose Miguel; De Girolamo, Giovanni; de Jonge, Peter; Demyttenaere, Koen; Fiestas, Fabian; Florescu, Silvia; Gureje, Oye; He, Yanling; Karam, Elie; Lepine, Jean-Pierre; Murphy, Sam; Villa-Posada, Jose; Zarkov, Zahari; Kessler, Ronald C.

    2015-01-01

    Objective: The age-at-onset criterion for separation anxiety disorder was removed in DSM-5, making it timely to examine the epidemiology of separation anxiety disorder as a disorder with onsets spanning the life course, using cross-country data. Method: The sample included 38,993 adults in 18 countr

  10. Pediatric-Onset and Adult-Onset Separation Anxiety Disorder Across Countries in the World Mental Health Survey

    NARCIS (Netherlands)

    Silove, Derrick; Alonso, Jordi; Bromet, Evelyn; Gruber, Mike; Sampson, Nancy; Scott, Kate; Andrade, Laura; Benjet, Corina; Caldas de Almeida, Jose Miguel; De Girolamo, Giovanni; de Jonge, Peter; Demyttenaere, Koen; Fiestas, Fabian; Florescu, Silvia; Gureje, Oye; He, Yanling; Karam, Elie; Lepine, Jean-Pierre; Murphy, Sam; Villa-Posada, Jose; Zarkov, Zahari; Kessler, Ronald C.

    2015-01-01

    Objective: The age-at-onset criterion for separation anxiety disorder was removed in DSM-5, making it timely to examine the epidemiology of separation anxiety disorder as a disorder with onsets spanning the life course, using cross-country data. Method: The sample included 38,993 adults in 18 countr

  11. Theory of Mind differences in older patients with early-onset and late-onset paranoid schizophrenia.

    Science.gov (United States)

    Smeets-Janssen, M M J; Meesters, P D; Comijs, H C; Eikelenboom, P; Smit, J H; de Haan, L; Beekman, A T F; Stek, M L

    2013-11-01

    Theory of Mind (ToM) is considered an essential element of social cognition. In younger schizophrenia patients, ToM impairments have extensively been demonstrated. It is not clear whether similar impairments can be found in older schizophrenia patients and if these impairments differ between older patients with early-onset and late-onset schizophrenia. Theory of Mind abilities were assessed using the Hinting Task in 15 older patients (age 60 years and older) with early-onset paranoid schizophrenia, 15 older patients with late-onset paranoid schizophrenia and 30 healthy controls. ANCOVA was performed to test differences between groups. Analyses were adjusted for level of education. Effect sizes, partial eta squared (ε(2) ), were computed as an indication of the clinical relevance of the findings. Patients with early-onset schizophrenia scored significantly lower on the Hinting Task (mean 16.1; SD 4.3) compared with patients with late-onset schizophrenia (mean 18.6; SD 1.5) and with healthy controls (mean 19.0; SD 1.4). The effect size of this difference was large (ε(2)  = 0.2). These results suggest that ToM functioning may be a protective factor modulating the age at onset of psychosis. Further studies into the relationship between social cognition and onset age of psychosis are warranted. Copyright © 2013 John Wiley & Sons, Ltd.

  12. Prevalence of Comorbidity in Patients With Young-Onset Alzheimer Disease Compared With Late-Onset: A Comparative Cohort Study

    NARCIS (Netherlands)

    Gerritsen, A.A.J.; Bakker, C.; Verhey, F.R.J.; Vugt, M.E. de; Melis, R.J.; Koopmans, R.T.

    2016-01-01

    OBJECTIVES: With the lack of a cure for Alzheimer disease (AD), the identification of comorbidity is important to reduce the possibility of excess disability. Although comorbidity in patients with late-onset AD (LO-AD) is common, for people with young-onset AD (YO-AD), it is unclear how often

  13. Onset of η-nuclear binding in a pionless EFT approach

    Directory of Open Access Journals (Sweden)

    N. Barnea

    2017-08-01

    Full Text Available ηNNN and ηNNNN bound states are explored in stochastic variational method (SVM calculations within a pionless effective field theory (EFT approach at leading order. The theoretical input consists of regulated NN and NNN contact terms, and a regulated energy dependent ηN contact term derived from coupled-channel models of the N⁎(1535 nucleon resonance. A self consistency procedure is applied to deal with the energy dependence of the ηN subthreshold input, resulting in a weak dependence of the calculated η-nuclear binding energies on the EFT regulator. It is found, in terms of the ηN scattering length aηN, that the onset of binding η 3He requires a minimal value of ReaηN close to 1 fm, yielding then a few MeV η binding in η 4He. The onset of binding η 4He requires a lower value of ReaηN, but exceeding 0.7 fm.

  14. Perinatal asphyxia: CNS development and deficits with delayed onset

    Directory of Open Access Journals (Sweden)

    Mario eHerrera-Marschitz

    2014-03-01

    Full Text Available Perinatal asphyxia constitutes a prototype of obstetric complications occurring when pulmonary oxygenation is delayed or interrupted. The primary insult relates to the duration of the period lacking oxygenation, leading to death if not re-established. Re-oxygenation leads to a secondary insult, related to a cascade of biochemical events required for restoring proper function. Perinatal asphyxia interferes with neonatal development, resulting in long-term deficits associated to mental and neurological diseases with delayed clinical onset, by mechanisms not yet clarified.In the experimental scenario, the effects observed long after perinatal asphyxia have been explained by over expression of sentinel proteins, such as poly(ADP-ribose polymerase-1 (PARP-1, competing for NAD+ during re-oxygenation, leading to the idea that sentinel protein inhibition constitutes a suitable therapeutic strategy. Asphyxia induces transcriptional activation of pro-inflammatory factors, in tandem with PARP-1 overactivation, and pharmacologically induced PARP-1 inhibition also down-regulates the expression of proinflammatory cytokines. Nicotinamide has been proposed as a suitable PARP-1 inhibitor. Its effect has been studied in an experimental model of global hypoxia in rats. In that model, the insult is induced by immersing rat foetuses into a water bath for various periods of time. Following asphyxia, the pups are delivered, treated, and nursed by surrogate dams, pending further experiments. Nicotinamide rapidly distributes into the brain following systemic administration, reaching steady state concentrations sufficient to inhibit PARP-1 activity for several hours, preventing several of the long-term consequences of perinatal asphyxia, supporting the idea that it constitutes a lead for exploring compounds with similar or better pharmacological profiles.

  15. Pediatric-Onset and Adult-Onset Separation Anxiety Disorder Across Countries in the World Mental Health Survey.

    Science.gov (United States)

    Silove, Derrick; Alonso, Jordi; Bromet, Evelyn; Gruber, Mike; Sampson, Nancy; Scott, Kate; Andrade, Laura; Benjet, Corina; Caldas de Almeida, Jose Miguel; De Girolamo, Giovanni; de Jonge, Peter; Demyttenaere, Koen; Fiestas, Fabian; Florescu, Silvia; Gureje, Oye; He, Yanling; Karam, Elie; Lepine, Jean-Pierre; Murphy, Sam; Villa-Posada, Jose; Zarkov, Zahari; Kessler, Ronald C

    2015-07-01

    The age-at-onset criterion for separation anxiety disorder was removed in DSM-5, making it timely to examine the epidemiology of separation anxiety disorder as a disorder with onsets spanning the life course, using cross-country data. The sample included 38,993 adults in 18 countries in the World Health Organization (WHO) World Mental Health Surveys. The WHO Composite International Diagnostic Interview was used to assess a range of DSM-IV disorders that included an expanded definition of separation anxiety disorder allowing onsets in adulthood. Analyses focused on prevalence, age at onset, comorbidity, predictors of onset and persistence, and separation anxiety-related role impairment. Lifetime separation anxiety disorder prevalence averaged 4.8% across countries (interquartile range [25th-75th percentiles]=1.4%-6.4%), with 43.1% of lifetime onsets occurring after age 18. Significant time-lagged associations were found between earlier separation anxiety disorder and subsequent onset of internalizing and externalizing DSM-IV disorders and conversely between these disorders and subsequent onset of separation anxiety disorder. Other consistently significant predictors of lifetime separation anxiety disorder included female gender, retrospectively reported childhood adversities, and lifetime traumatic events. These predictors were largely comparable for separation anxiety disorder onsets in childhood, adolescence, and adulthood and across country income groups. Twelve-month separation anxiety disorder prevalence was considerably lower than lifetime prevalence (1.0% of the total sample; interquartile range=0.2%-1.2%). Severe separation anxiety-related 12-month role impairment was significantly more common in the presence (42.4%) than absence (18.3%) of 12-month comorbidity. Separation anxiety disorder is a common and highly comorbid disorder that can have onset across the lifespan. Childhood adversity and lifetime trauma are important antecedents, and adverse effects on

  16. The dawn and dusk electrojet response to substorm onset

    Directory of Open Access Journals (Sweden)

    E. Borälv

    Full Text Available We have investigated the time delay between substorm onset and related reactions in the dawn and dusk ionospheric electrojets, clearly separated from the nightside located substorm current wedge by several hours in MLT. We looked for substorm onsets occurring over Greenland, where the onset was identified by a LANL satellite and DMI magnetometers located on Greenland. With this setup the MARIA magnetometer network was located at dusk, monitoring the eastward electrojet, and the IMAGE chain at dawn, for the westward jet. In the first few minutes following substorm onset, sudden enhancements of the electrojets were identified by looking for rapid changes in magnetograms. These results show that the speed of information transfer between the region of onset and the dawn and dusk ionosphere is very high. A number of events where the reaction seemed to preceed the onset were explained by either unfavorable instrument locations, preventing proper onset timing, or by the inner magnetosphere's reaction to the Earthward fast flows from the near-Earth neutral line model. Case studies with ionospheric coherent (SuperDARN and incoherent (EISCAT radars have been performed to see whether a convection-induced electric field or enhanced conductivity is the main agent for the reactions in the electrojets. The results indicate an imposed electric field enhancement.

    Key words: Ionosphere (auroral ionosphere; electric fields and currents - Magnetospheric physics (storms and substorms

  17. Onset of Indian Summer Monsoon: a retrospective analysis

    Science.gov (United States)

    Sruthi, S.; Mrudula, G.

    2016-05-01

    The monsoon onset over Kerala is considered as the beginning of rain fall over India and it is the end of hot summer. Different criteria have been used to define the monsoon onset over Kerala, with the one given by India Meteorological Department taken as the standard criteria. The analysis of the past 20 years of observations shows that the variables during the monsoon onset do not behave in the same way always. The purpose of this paper is to analyses the monsoon onset phases and to find possible reasons behind the variable nature of the monsoon onset. Different meteorological parameters like precipitation, outgoing long wave radiation (OLR), winds, air temperature, and specific humidity at different levels are analyzed for the same. Research has been done on various distinct features of monsoon such as Low Level Jet (LLJ), Tropical Easterly Jet (TEJ), monsoon trough, and depressions etc., during the onset phase. The analysis showed that in some years the strength of LLJ is lesser compared to the normal years. It is also seen that in some years the wind flow pattern is different from that observed during a standard onset year. The results of these analyses will be presented in detail in the paper.

  18. The Influence of Onsets and Offsets on Saccade Programming

    Directory of Open Access Journals (Sweden)

    Frouke Hermens

    2010-08-01

    Full Text Available When making a saccadic eye movement to a peripheral target, a simultaneous stimulus onset at central fixation generally increases saccadic latency, while offsets reduce latency (‘gap effect’. Visual onsets remote from fixation also increase latency (‘remote distractor effect’; however, the influence of remote visual offsets is less clear. Previous studies, which used a search task, found that remote offsets either facilitated, inhibited, or did nothing to saccade latencies towards a peripheral target. It cannot be excluded, however, that the target selection process in such search tasks influenced the results. We therefore simplified the task and asked participants to make eye movements to a predictable target. Simultaneously with target onset, either one or multiple remote stimulus onsets and offsets were presented. It was found that peripheral onsets increased saccade latencies, but offsets did not influence the initiation of a saccade to the target. Moreover, the number of onsets and offsets did not affect the results. These results suggest that earlier effects of remote stimulus offsets and of the number of remote distractor onsets reside in the target identification process of the visual search task rather than the competition between possible saccade goals. The results are discussed in the context of models of saccade target selection.

  19. Onset, active and break periods of the Australian monsoon

    Energy Technology Data Exchange (ETDEWEB)

    Shaik, Hakeem A [Northern Territory Regional Office, Australian Bureau of Meteorology, PO Box 40050, NT Regional Office, Bureau of Meteorology, Casuarina NT 0811, Darwin (Australia); Cleland, Samuel J, E-mail: h.shaik@bom.gov.a [Bureau of Meteorology, Cape Grim BAPS, Smithton Tasmania TAS 7300 (Australia)

    2010-08-15

    Four operational techniques of monsoon monitoring the Australian monsoon at Darwin have been developed in the Darwin Regional Specialised Meteorological Centre. Two techniques used the rainfall only criteria and look into the onset of wet season rainfall/monsoon rainfall. The other two techniques are based purely on Darwin wind data. The data used for the study ranges from 14 to 21 years. The main purpose of the study is to develop near-real time monitoring tools for the Australian monsoon at Darwin. The average date of onset of the monsoon ranges from 19 December to 30 December. The average date of monsoon onset is 28 December. In eleven out of twenty-one years the onset date remained within three days range between the two rainfall techniques, whereas it is eleven out of fourteen years between the wind techniques. The median number of active monsoon spells in a wet season is 3 for the rainfall techniques and 6 for the wind techniques. The average length of each active monsoon spell is around 4 days for all of the techniques. The date of onset of the monsoon has shown negative correlation with the Southern Oscillation Index (SOI) that is late onset is found to occur in El Nino years while early onset is more likely in La Nina years.

  20. Differences in B7 and CD28 family gene expression in the peripheral blood between newly diagnosed young-onset and adult-onset type 1 diabetes patients.

    Science.gov (United States)

    Pruul, K; Kisand, K; Alnek, K; Metsküla, K; Reimand, K; Heilman, K; Peet, A; Varik, K; Peetsalu, M; Einberg, Ü; Tillmann, V; Uibo, R

    2015-09-05

    Type-1 diabetes (T1D) is a heterogeneous autoimmune disease, and there are pathogenetic differences between young- and adult-onset T1D patients. We hypothesized that the expressions of genes involved in costimulatory immune system pathways in peripheral blood are differently regulated in young- and adult-onset T1D. Study group I consisted of 80 children, adolescents, and young adults (age range 1.4-21.4 y; 31 controls and 49 T1D patients). Study group II consisted of 48 adults (age range 22.0-78.4 y; 30 controls and 18 T1D patients). The mRNA expression levels of CD86, CD28, CD25, CD226, CD40, BTLA, GITR, PDCD1, FoxP3, TGF-β, ICOS, sCTLA4, flCTLA4, and CD80 were measured in peripheral blood. Genetic polymorphisms (HLA haplotypes; rs231806, rs231775, and rs3087243 in CTLA4; rs763361 in CD226; and rs706778 in CD25) and T1D-associated autoantibodies were analyzed. In group I, there was significantly lower expression of CD226 in T1D patients than in the controls. In group II, there were significantly higher expression levels of CD86 and TGF-β in T1D patients than in the controls. In the T1D patients in group I, the upregulated CD80 expression correlated with the expression of both CTLA4 splice variants (sCTLA4 and flCTLA4). In contrast, in group II, upregulated CD86 correlated with TGF-β and CD25. In group I, the inhibitory CD80-CTLA4 pathway was activated, whereas, in group II, the activation CD86-CD28 pathway and TGF-β production were activated. These results emphasize the differences between young-onset and adult-onset T1D in the regulation of costimulatory pathways. These differences should be considered when developing novel treatments for T1D.

  1. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

    Science.gov (United States)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P M A; Saute, Jonas A; Chien, Hsin Fen; Bouwkamp, Christian G; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J; Zhang, Jianguo; Verheijen, Frans W; Boon, Agnita J W; Kievit, Anneke J A; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R M; Leenders, Klaus L; Wang, Jun; Bonifati, Vincenzo

    2016-02-01

    DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). The DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity mapping, linkage analysis, whole-exome sequencing, and protein studies. We identified two families with different novel homozygous DNAJC6 mutations segregating with PD. In each family, the DNAJC6 mutation was flanked by long runs of homozygosity within highest linkage peaks. Exome sequencing did not detect additional pathogenic variants within the linkage regions. In both families, patients showed severely decreased steady-state levels of the auxilin protein in fibroblasts. We also identified a sporadic patient carrying two rare noncoding DNAJC6 variants possibly effecting RNA splicing. All these cases fulfilled the criteria for a clinical diagnosis of early-onset PD, had symptoms onset in the third-to-fifth decade, and slow disease progression. Response to dopaminergic therapies was prominent, but, in some patients, limited by psychiatric side effects. The phenotype overlaps that of other monogenic forms of early-onset PD. Our findings delineate a novel form of hereditary early-onset PD. Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance. Our data provide further evidence for the involvement of synaptic vesicles endocytosis and trafficking in PD pathogenesis. © 2016 American Neurological Association.

  2. Lost human capital from early-onset chronic depression.

    Science.gov (United States)

    Berndt, E R; Koran, L M; Finkelstein, S N; Gelenberg, A J; Kornstein, S G; Miller, I M; Thase, M E; Trapp, G A; Keller, M B

    2000-06-01

    Chronic depression starts at an early age for many individuals and could affect their accumulation of "human capital" (i.e., education, higher amounts of which can broaden occupational choice and increase earnings potential). The authors examined the impact, by gender, of early- (before age 22) versus late-onset major depressive disorder on educational attainment. They also determined whether the efficacy and sustainability of antidepressant treatments and psychosocial outcomes vary by age at onset and quantified the impact of early- versus late-onset, as well as never-occurring, major depressive disorder on expected lifetime earnings. The authors used logistic and multivariate regression methods to analyze data from a three-phase, multicenter, double-blind, randomized trial that compared sertraline and imipramine treatment of 531 patients with chronic depression aged 30 years and older. These data were integrated with U.S. Census Bureau data on 1995 earnings by age, educational attainment, and gender. Early-onset major depressive disorder adversely affected the educational attainment of women but not of men. No significant difference in treatment responsiveness by age at onset was observed after 12 weeks of acute treatment or, for subjects rated as having responded, after 76 weeks of maintenance treatment. A randomly selected 21-year-old woman with early-onset major depressive disorder in 1995 could expect future annual earnings that were 12%-18% lower than those of a randomly selected 21-year-old woman whose onset of major depressive disorder occurred after age 21 or not at all. Early-onset major depressive disorder causes substantial human capital loss, particularly for women. Detection and effective treatment of early-onset major depressive disorder may have substantial economic benefits.

  3. Acute Onset Collagenous Colitis with Unique Endoscopic Findings

    Science.gov (United States)

    Kuhroha, Masatake; Kinouchi, Yoshitaka; Shimosegawa, Tooru

    2014-01-01

    We experienced a rare case of 72-year-old woman with acute onset collagenous colitis (CC) induced by lansoprazole. The patient developed acute abdominal pain, watery diarrhea, and melena that are quite rare in usual CC. We could find the characteristic colonoscopic findings such as active long liner ulcers in the patient. We also observed the healing courses of these unique findings. Our case indicates two important points of view. (1) CC sometimes develops with acute onset symptoms which resemble those of ischemic colitis. (2) Colonoscopy would be useful and necessary to distinguish acute onset CC and ischemic colitis. PMID:25610672

  4. [Do Intellectual Activities Influence Onset of Neurocognitive Disorder?].

    Science.gov (United States)

    Matsuda, Osamu

    2016-07-01

    In this paper, the author has discussed whether and how intellectual activities influence the onset of neurocognitive disorder based on findings from previous studies. The activities discussed include those involving education and learning during childhood, hobbies and leisure activities with cognitive stimulation, and those through cognitive intervention. There are various opinions on the effect of intellectual activities on the onset of neurocognitive disorder. However, because the relationship between intellectual activities and the onset of neurocognitive disorder has never been fully examined, it seems necessary to discuss this aspect carefully.

  5. Late-Onset Rash Associated with Lamotrigine: Case Report

    Directory of Open Access Journals (Sweden)

    Raquel Ribeiro

    2014-10-01

    Full Text Available The use of lamotrigine in Bipolar Disorder has been approved by the F.D.A since 2003. Rash is the more frequent adverse effect related to the treatment with Lamotrigine and in several cases is the cause for discontinuation of medical treatment. The less frequent related cases of rash are the late onset ones. About a women’s case with a late onset of rash, we revised the clinical use of Lamotrigine in Bipolar Disorder published bibliography which is followed by a special focus in the rash itself and finally we present some particular issues about late onset rash.

  6. Acute Onset Collagenous Colitis with Unique Endoscopic Findings

    Directory of Open Access Journals (Sweden)

    Rintaro Moroi

    2014-01-01

    Full Text Available We experienced a rare case of 72-year-old woman with acute onset collagenous colitis (CC induced by lansoprazole. The patient developed acute abdominal pain, watery diarrhea, and melena that are quite rare in usual CC. We could find the characteristic colonoscopic findings such as active long liner ulcers in the patient. We also observed the healing courses of these unique findings. Our case indicates two important points of view. (1 CC sometimes develops with acute onset symptoms which resemble those of ischemic colitis. (2 Colonoscopy would be useful and necessary to distinguish acute onset CC and ischemic colitis.

  7. Late-onset alopecia areata: descriptive analysis of 30 cases*

    Science.gov (United States)

    Lazzarini, Rosana; Oliari, Camila Bilac; Erthal, Ana Luisa Nasser

    2016-01-01

    Alopecia areata is an autoimmune disease characterized by non-scaring hair loss. The onset in over 50-year-old patients is rare and has barely been studied. Cases of this disease have been retrospectively analyzed – according to clinical forms, extension, and associated diseases – to assess alopecia areata characteristics in a group of patients whose disease onset was after the age of 50. 30 patients were studied; a few of them presented with autoimmune-related diseases or family history. The disease onset after the age of 50 seems to have different characteristics from those found in young people. PMID:28099618

  8. A composite study of onset of the Australian summer monsoon

    Science.gov (United States)

    Hendon, Harry H.; Liebmann, Brant

    1990-01-01

    The circulation changes that accompany an onset (defined as the first occurrence of wet 850-mb westerly winds at Darwin, Australia) of the Australian summer monsoon are documented by a composite study for the years 1957-1987. Composites of atmospheric fields at stations in and about the Australian tropics are constructed relative to the onset data at Darwin. It is shown that the composite onset is dominated by a slow eastward migration of a deep-baroclinic convective circulation displaced south of the equator. This propagating anomaly exhibited many features of the so-called 40-50 day oscillation, including an upper level anticyclone that accompanies the convective anomaly.

  9. Adult-onset nemaline myopathy presenting as respiratory failure.

    LENUS (Irish Health Repository)

    Kelly, Emer

    2008-11-01

    Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory function remained stable. There are few reported cases of respiratory failure in patients with adult-onset nemaline myopathy, and the insidious onset in this case is even more unusual. This case highlights the varied presenting features of adult-onset nemaline myopathy and that noninvasive ventilation improves respiratory function.

  10. Severe early onset ethylmalonic encephalopathy with West syndrome.

    Science.gov (United States)

    Papetti, Laura; Garone, Giacomo; Schettini, Livia; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, Massimo; Leuzzi, Vincenzo; Spalice, Alberto

    2015-12-01

    Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

  11. Late-onset peritoneal recurrence of advanced gastric cancer 20 years after primary resection

    Directory of Open Access Journals (Sweden)

    Mohri Yasuhiko

    2010-11-01

    Full Text Available Abstract Late onset of peritoneal recurrence of gastric cancer more than 10 years after surgery is extremely rare, and only three cases have been reported. We present the case of a 61-year-old man who was diagnosed finally with peritoneal recurrence of gastric cancer 20 years after primary curative resection. As a result of small-bowel obstruction caused by peritoneal recurrence, diverting ileostomy with partial ileal resection was performed. The resected specimen revealed tubular adenocarcinoma that resembled the primary gastric cancer. The clinical course after the second operation was unfavorable and systemic chemotherapy had no effect. He died at 62 years of age, 21 years and 7 months after initial gastrectomy. Immunohistochemical analysis using antibodies against proliferating cell nuclear antigen (PCNA, Ki-67, and p53 was performed to investigate the phenotype of primary and recurrence cancer. Protein expression of proliferation markers such as PCNA and Ki-67 was down-regulated, but p53 was overexpressed at the site of recurrence. These data suggest that late peritoneal recurrence has a low proliferation rate and is resistant to chemoradiotherapy. In conclusion, we present late onset of peritoneal recurrence of gastric cancer more than 20 years after primary surgery, and speculate on the mechanism of late-onset recurrence in our case.

  12. Age at onset mixture analysis and systematic comparison in schizophrenia spectrum disorders: Is the onset heterogeneity dependent on heterogeneous diagnosis?

    Science.gov (United States)

    Nowrouzi, Behdin; Kamhi, Roy; Hu, Jayi; Kennedy, James L; Matmari, Michelle; De Luca, Vincenzo

    2015-05-01

    A major obstacle to the identification of the neurobiological correlates of schizophrenia is the substantial diagnostic heterogeneity of this disorder. Dividing schizophrenia into "early" and "late" subtypes may reduce heterogeneity and facilitate identification of biomarkers related to this disease. Our objective was to assess the presence of different sub-groups in schizophrenia by age at onset analysis. The participants in this study were 612 unrelated patients with schizophrenia. Admixture analysis was applied in order to identify a model of separate normal distributions of age at onset characterized by different means, variances and population proportions to evaluate the effect of winter birth and ethnicity on early onset schizophrenia. The best-fitting model suggested three subgroups with means and standard deviations of 17.11 ± 2.09, 21.96 ± 3.43 and 30.02 ± 7.1 years, comprising 34.6%, 42.6% and 22.8% of the sample respectively. We considered as predictors of early onset schizophrenia: male gender, winter birth, white ethnicity and positive family history for psychiatric disorders. Earlier onset was significantly associated with male gender. We also compared our age at onset distribution with those published in other studies and we found significant differences with several studies suggesting heterogeneity in age at onset that is likely influenced by diagnostic heterogeneity in applying the DSM-IV criteria. Overall, our study showed that a typical early onset schizophrenia patient is more likely to be a white male with cannabis abuse and positive family history of psychiatric disorders. The heterogeneity in reporting age at onset across different studies suggests the application of more stringent criteria in diagnosing schizophrenia. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. Associations between mental disorders and subsequent onset of hypertension

    NARCIS (Netherlands)

    Stein, Dan J.; Aguilar-Gaxiola, Sergio; Alonso, Jordi; Bruffaerts, Ronny; de Jonge, Peter; Liu, Zharoui; Caldas-de-Almeida, Jose Miguel; O'Neill, Siobhan; Viana, Maria Carmen; Al-Hamzawi, Ali Obaid; Angermeyer, Mattias C.; Benjet, Corina; de Graaf, Ron; Ferry, Finola; Kovess-Masfety, Viviane; Levinson, Daphna; de Girolamo, Giovanni; Florescu, Silvia; Hu, Chiyi; Kawakami, Norito; Haro, Josep Maria; Piazza, Marina; Posada-Villa, Jose; Wojtyniak, Bogdan J.; Xavier, Miguel; Lim, Carmen C. W.; Kessler, Ronald C.; Scott, Kate M.

    2014-01-01

    Background: Previous work has suggested significant associations between various psychological symptoms (e. g., depression, anxiety, anger, alcohol abuse) and hypertension. However, the presence and extent of associations between common mental disorders and subsequent adult onset of hypertension rem

  14. Identification of precipitation onset based on Cloudsat observations

    Science.gov (United States)

    Wang, Yu; Chen, Yujue; Fu, Yunfei; Liu, Guosheng

    2017-02-01

    Observations of cloud vertical structure by Cloud Profiling Radar on CloudSat satellite provide a unique opportunity to globally identify the onset of precipitation. In this study, based on a conceptual model for an adiabatic cloud, a new method to determine the onset of precipitation in marine warm clouds is developed. The new method uses the slope of radar reflectivities near the cloud top, which gradually reverses its signs as drizzle occurs. By analyzing multiyear CloudSat data, it is found that globally the radar reflectivity threshold for precipitation onset varies from -18 to -13 dBZ with an average value of -16 dBZ. The corresponding liquid water path threshold for precipitation onset is also studied by analyzing satellite microwave observations collocated with CloudSat data. Results show that the liquid water path threshold is 190 g m-2 as a global mean, varying from 150 to over 300 g m-2 depending on regions.

  15. Gamelan Music Onset Detection based on Spectral Features

    Directory of Open Access Journals (Sweden)

    Yoyon Kusnendar Suprapto

    2013-03-01

    Full Text Available This research detects onsets of percussive instruments by examining the performance on the sound signals of gamelan instruments as one of traditional music instruments in Indonesia. Onset plays important role in determining musical rythmic structure, like beat, tempo, and is highly required in many applications of music information retrieval. There are four onset detection methods compared that employ spectral features, such as magnitude, phase, and the combination of both, which are phase slope (PS, weighted phase deviation (WPD, spectral flux (SF, and rectified complex domain (RCD. These features are extracted by representing the sound signals into time-frequency domain using overlapped Short-time Fourier Transform (STFT and varying the window length. Onset detection functions are processed through peak-picking using dynamic threshold. The results showed that by using suitable window length and parameter setting of dynamic threshold, F-measure which is greater than 0.80 can be obtained for certain methods.

  16. Associations between mental disorders and subsequent onset of hypertension

    NARCIS (Netherlands)

    Stein, Dan J.; Aguilar-Gaxiola, Sergio; Alonso, Jordi; Bruffaerts, Ronny; de Jonge, Peter; Liu, Zharoui; Caldas-de-Almeida, Jose Miguel; O'Neill, Siobhan; Viana, Maria Carmen; Al-Hamzawi, Ali Obaid; Angermeyer, Mattias C.; Benjet, Corina; de Graaf, Ron; Ferry, Finola; Kovess-Masfety, Viviane; Levinson, Daphna; de Girolamo, Giovanni; Florescu, Silvia; Hu, Chiyi; Kawakami, Norito; Haro, Josep Maria; Piazza, Marina; Posada-Villa, Jose; Wojtyniak, Bogdan J.; Xavier, Miguel; Lim, Carmen C. W.; Kessler, Ronald C.; Scott, Kate M.

    2014-01-01

    Background: Previous work has suggested significant associations between various psychological symptoms (e. g., depression, anxiety, anger, alcohol abuse) and hypertension. However, the presence and extent of associations between common mental disorders and subsequent adult onset of hypertension

  17. Differences between early and late onset adult depression

    DEFF Research Database (Denmark)

    Drachmann Bukh, Jens; Bock, Camilla; Vinberg, Maj

    2011-01-01

    episode depression were systematically recruited. Characteristics including psychiatric co-morbidity, personality disorders and traits, stressful life events prior to onset, family history, and treatment outcome were assessed by structured interviews and compared by chi-square tests for categorical data...... prevalence of co-morbid personality disorders, higher levels of neuroticism, and a lower prevalence of stressful life events preceding onset compared to patients with later age-of-onset. There were no differences in severity of the depressive episode, treatment outcome or family loading of psychiatric......, t-tests for continuous parametric data and Mann-Whitney U-test for continuous nonparametric data. Logistic and multiple regression analyses were used to adjust the analyses for potentially confounding variables. Results: Patients with early onset of depression were characterised by a higher...

  18. Heatshield Ablation Pattern Roughness Onset and Effects Project

    Data.gov (United States)

    National Aeronautics and Space Administration — This project will develop a practical method for predicting pattern roughness onset and quantitative effects on heat and mass transfer rates for heatshield materials...

  19. Oxcarbazepine versus carbamazepine monotherapy for partial onset seizures

    NARCIS (Netherlands)

    Koch, Marcus W.; Polman, Susanne K. L.

    2009-01-01

    Background Partial onset seizures are often treated with the standard antiepileptic drug carbamazepine. Oxcarbazepine is a newer antiepileptic drug related to carbamazepine that is claimed to be better tolerated. Objectives To compare efficacy and tolerability of carbamazepine and oxcarbazepine mono

  20. A Supervised Classification Algorithm for Note Onset Detection

    Directory of Open Access Journals (Sweden)

    Douglas Eck

    2007-01-01

    Full Text Available This paper presents a novel approach to detecting onsets in music audio files. We use a supervised learning algorithm to classify spectrogram frames extracted from digital audio as being onsets or nononsets. Frames classified as onsets are then treated with a simple peak-picking algorithm based on a moving average. We present two versions of this approach. The first version uses a single neural network classifier. The second version combines the predictions of several networks trained using different hyperparameters. We describe the details of the algorithm and summarize the performance of both variants on several datasets. We also examine our choice of hyperparameters by describing results of cross-validation experiments done on a custom dataset. We conclude that a supervised learning approach to note onset detection performs well and warrants further investigation.

  1. Stimulants and First-Onset Tics With ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-08-01

    Full Text Available A meta-analysis of studies concerning first-onset tics in children with attention deficit hyperactivity disorder (ADHD treated with stimulants is reported from the University of Goettingen, Germany.

  2. Oxcarbazepine versus carbamazepine monotherapy for partial onset seizures

    NARCIS (Netherlands)

    Koch, Marcus W.; Polman, Susanne K. L.

    2009-01-01

    Background Partial onset seizures are often treated with the standard antiepileptic drug carbamazepine. Oxcarbazepine is a newer antiepileptic drug related to carbamazepine that is claimed to be better tolerated. Objectives To compare efficacy and tolerability of carbamazepine and oxcarbazepine mono

  3. Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Del Gaizo, Andrew [Emory University School of Medicine, Radiology Resident, Atlanta, GA (United States); Banerjee, Sima [Emory University School of Medicine, Musculoskeletal Radiology Department, Atlanta, GA (United States); Terk, Michael [Emory University School of Medicine, Radiology, Division of Musculoskeletal Imaging, Atlanta, GA (United States)

    2009-12-15

    Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

  4. Late-onset systemic lupus erythematosus in Northwestern Spain: differences with early-onset systemic lupus erythematosus and literature review.

    Science.gov (United States)

    Alonso, M D; Martinez-Vazquez, F; de Teran, T Diaz; Miranda-Filloy, J A; Dierssen, T; Blanco, R; Gonzalez-Juanatey, C; Llorca, J; Gonzalez-Gay, M A

    2012-09-01

    To further investigate into the epidaemiology of systemic lupus erythematosus (SLE) in Southern Europe, we have assessed the incidence, clinical spectrum and survival of patients diagnosed with late-onset SLE (age ≥ 50 years) according to the 1982 American College of Rheumatology (ACR) classification criteria at the single hospital for a well-defined population of Lugo, Northwestern (NW) Spain. Between January 1987 and December 2006, 51 (39.3%) of the 150 patients diagnosed as having SLE fulfilled definitions for late-onset SLE. The predominance of women among late-onset SLE (4:1) was reduced when compared with that observed in early-onset SLE (7:1). However, the incidence of late-onset SLE was significantly higher in women (4.2 [95% confidence interval (CI): 3.1-5.6] per 100,000 population) than in men (1.3 [95% CI: 0.6-2.2] per 100,000 population) (p < 0.001). As observed in early-onset SLE, the most frequent clinical manifestation in patients with late-onset SLE was arthritis (71.2%). Renal disease was less common in late-onset SLE (13.5%) than in early-onset SLE (26.4%); p = 0.07). In contrast, secondary Sjögren syndrome was more commonly found in the older age-group (27.1% versus 12.1%; p = 0.03). A non-significantly increased incidence of serositis was also observed in late-onset SLE patients (33.9% versus 22.0%; p = 0.13). Hypocomplementaemia (72.9% versus 91.2%) and positive results for anti-DNA and anti-Sm (49.2% and 6.8% versus 68.1% and 23.1, respectively) were significantly less common in late-onset SLE patients than in early-onset SLE. The probability of survival was reduced in late-onset SLE (p < 0.001). With respect to this, the 10-year and 15-year survival probability were 74.9 % and 63.3% in the late-onset SLE group and 96.3% and 91.0% in patients with early-onset SLE, respectively. In conclusion, our results confirm that in NW Spain SLE is not uncommon in individuals 50 years and older. In keeping with earlier studies

  5. Climate indices, rainfall onset and retreat, and malaria in Nigeri

    Directory of Open Access Journals (Sweden)

    A.J. Thomso

    2010-12-01

    Full Text Available Background & objectives: Rainfall in western sub-Saharan Africa is related to seasonal shifts ofthe Inter-tropical Convergence Zone, which moves northward early in the year, retreating in thesecond half of the year. The objective of the present study was to determine significant relationshipsbetween onset and retreat timing and climate indices. The relationship between timing and malariacase reporting was then evaluated.Methods: Relationships between published rainfall onset and retreat dates for Nigeria from 1971–2000 were evaluated in relation to pairs of climate indices using response surface analysis. Graphicalrepresentation of the response surface in relation to the underlying data was used to identify instancesof overfitting. Association of onset and retreat timing with published case reporting records wasevaluated using graphical and correlation analysis.Results: Onset timing and rate of advance were related to ENSO (El Niño-Southern Oscillation,in combination with the Northern Annular Mode (NAM, while retreat timing was related to NAO(North Atlantic Oscillation, in combination with the East Pacific (EP or West Pacific (WPindex, depending on location. Later onset was associated with faster northward progression ofonset. Retreat date at Kano, the most northerly of the study locations, increased over the period1990–2000, with higher case reporting for Nigeria as a whole being associated with the last threeyears of that period.Interpretation & conclusion: Rainfall retreat occurs much faster than onset, with onset and retreattiming and rate of onset advance being related to combinations of climate indices rather than to asingle index. Threshold for determining a “rainy” day would influence results. The increase innational case reporting with delayed retreat at Kano may be related to the extension of the shorttransmission period in the north.

  6. Blood-Based Biomarkers of Early-Onset Breast Cancer

    Science.gov (United States)

    2015-10-01

    AWARD NUMBER: W81XWH-13-1-0214 TITLE: Blood -based biomarkers of early-onset breast cancer PRINCIPAL INVESTIGATOR: Nasim Ahmadiyeh...DATES COVERED 30 Sep 2014 - 29 Sep 2015 4. TITLE AND SUBTITLE Blood -based biomarkers of early-onset breast cancer 5a. CONTRACT NUMBER W81XWH-13-1...While the normal breast is the ideal tissue in which to study this phenomenon, gene expression profiling of blood lymphocytes has been successfully

  7. Early-onset colorectal cancer: a sporadic or inherited disease?

    Science.gov (United States)

    Stigliano, Vittoria; Sanchez-Mete, Lupe; Martayan, Aline; Anti, Marcello

    2014-09-21

    Colorectal cancer is the third most common cancer diagnosed worldwide. Although epidemiology data show a marked variability around the world, its overall incidence rate shows a slow but steady decrease, mainly in developed countries. Conversely, early-onset colorectal cancer appears to display an opposite trend with an overall prevalence in United States and European Union ranging from 3.0% and 8.6%. Colorectal cancer has a substantial proportion of familial cases. In particular, early age at onset is especially suggestive of hereditary predisposition. The clinicopathological and molecular features of colorectal cancer cases show a marked heterogeneity not only between early- and late-onset cases but also within the early-onset group. Two distinct subtypes of early-onset colorectal cancers can be identified: a "sporadic" subtype, usually without family history, and an inherited subtype arising in the context of well defined hereditary syndromes. The pathogenesis of the early-onset disease is substantially well characterized in the inherited subtype, which is mainly associated to the Lynch syndrome and occasionally to other rare mendelian diseases, whereas in the "sporadic" subtype the origin of the disease may be attributed to the presence of various common/rare genetic variants, so far largely unidentified, displaying variable penetrance. These variants are thought to act cumulatively to increase the risk of colorectal cancer, and presumably to also anticipate its onset. Efforts are ongoing in the attempt to unravel the intricate genetic basis of this "sporadic" early-onset disease. A better knowledge of molecular entities and pathways may impact on family-tailored prevention and clinical management strategies.

  8. Late onset seroma post-thymectomy presenting as cardiac tamponade

    OpenAIRE

    Poudel, Dilli Ram; Giri, Smith; Pathak, Ranjan; Morsey, Mohamed; Alsafwah, Shadwan

    2015-01-01

    Late onset seroma is a rare post-operative complication occurring after various surgeries including thymectomy. Most cases are asymptomatic; however, seromas occurring in the mediastinal cavity may cause compression symptoms including airway compression or cardiac tamponade. We present a 62-year-old male with a history of thymectomy for myasthenia gravis who presented with cardiac tamponade several years ago. Further evaluation revealed a late onset seroma anteriorly compressing the cardiac c...

  9. Onset of negative dispersion in one-component-plasma revisited

    CERN Document Server

    Khrapak, Sergey

    2016-01-01

    A simple approach to describe the long-wavelength dispersion of the longitudinal (plasmon) mode of the classical one-component-plasma (OCP), with the main objective to correctly capture the onset of negative dispersion, is proposed. The approach is applicable to both three-dimensional and two-dimensional OCP. The predicted onset of negative dispersion compares well with the available results from numerical simulations and more sophisticated theoretical models.

  10. Acute clinical onset chronic inflammatory demyelinating polyneuropathy in a dog.

    Science.gov (United States)

    Molín, Jéssica; Márquez, Mercedes; Raurell, Xavier; Matiasek, Kaspar; Ferrer, Isidre; Pumarola, Martí

    2011-09-01

    We report a case of acute-onset ambulatory paraparesis with electrophysiological abnormalities compatible with axonal and demyelinating lesions in a Rottweiler dog. Although the clinical findings were compatible with acute canine idiopathic polyneuropathy, postmortem investigations revealed a chronic demyelinating polyneuropathy affecting the nerve roots. Due to the combination of acute clinical presentation and chronic pathologic features, this case is consistent with the acute-onset form of chronic inflammatory demyelinating polyneuropathy (A-CIDP).

  11. Adult-onset Satoyoshi syndrome and response to plasmapheresis

    Directory of Open Access Journals (Sweden)

    Rajeshwari Aghoram

    2016-01-01

    Full Text Available Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities Adult-onset disease is reported only in five patients. Most of the reports have not characterized the nature of muscle spasm in the disease. In this paper, we report the first case of adult-onset Satoyoshi syndrome from India and the clinical and electrophysiological response to plasmapheresis.

  12. CYP450 polymorphisms as risk factors for early-onset lung cancer: gender-specific differences.

    Science.gov (United States)

    Timofeeva, Maria N; Kropp, Silke; Sauter, Wiebke; Beckmann, Lars; Rosenberger, Albert; Illig, Thomas; Jäger, Birgit; Mittelstrass, Kirstin; Dienemann, Hendrik; Bartsch, Helmut; Bickeböller, Heike; Chang-Claude, Jenny C; Risch, Angela; Wichmann, Heinz-Erich

    2009-07-01

    Cytochrome P450 (CYP) enzymes, involved in metabolism of tobacco carcinogens, are also involved in estrogen metabolism and many are regulated by estrogens. These genes may thus be of relevance to gender-specific differences in lung cancer risk, particularly in early-onset lung cancer, where a high proportion of women is observed. We conducted a case-control study to investigate genetic polymorphisms in cytochromes that might modify the risk of developing early-onset lung cancer. In total, 638 Caucasian patients under the age of 51 with primary lung cancer and 1300 cancer-free control individuals, matched by age and sex, were included in this analysis. Thirteen polymorphisms in the CYP1A1, CYP1B1, CYP2A13, CYP3A4 and CYP3A5 genes were analyzed. No significant association was found for any of the analyzed polymorphisms and lung cancer risk overall. However, among women, a significantly increased risk of early-onset lung cancer was observed for carriers of the minor allele of CYP1B1 SNP rs1056836 [odds ratio (OR) 1.97; 95% confidence interval (CI) 1.32-2.94; P lung cancer risk was observed in the group of women carriers of the minor allele of CYP2A13 SNP rs1709084 (OR 1.64; 95% CI 1.00-2.70; P = 0.05). The effect of these two polymorphisms was shown to be modified by smoking. Haplotype analysis was performed for CYP1B1 and CYP2A13. No differences between cases and controls were observed for both genes (P = 0.63 and P = 0.42 for CYP1B1 and CYP2A13, respectively). Our results suggest that the CYP1B1 and the CYP2A13 genotypes may contribute to individual susceptibility to early-onset lung cancer in women.

  13. New-onset systemic lupus erythematosus during pregnancy.

    Science.gov (United States)

    Zhao, Chunmei; Zhao, Jijun; Huang, Yuefang; Wang, Zilian; Wang, Hongyue; Zhang, Hui; Xu, Hanshi; Yang, Niansheng

    2013-06-01

    Few studies have been published focusing on the clinical features of new-onset systemic lupus erythematosus (SLE) during pregnancy. This study examined the clinical characteristics of SLE during pregnancy or puerperium. The clinical characteristics and serological parameters of 48 patients with onset of SLE during pregnancy were retrospectively compared with those of age-matched new-onset SLE patients who were diagnosed in a period of more than 12 months without pregnancy (n = 65) and age-matched preeclampsia patients (n = 48). SLE tended to occur during the first and second trimesters (33 and 42 %, respectively). Lupus nephritis (LN) and severe thrombocytopenia were more commonly seen in new-onset SLE during pregnancy than in patients without pregnancy (68.8 vs 35.4 % and 25 vs 9.2 %, respectively, p pregnancy (n = 23), LN patients with pregnancy (n = 33) had more prominent proteinuria and nephrotic syndrome (p pregnancy had early onset of symptoms during gestation and were characterized by presence of fever, malar lesion, autoantibodies, hypocomplementemia, hyperuricemia, active urinary sediment, and multi-organ involvement. In conclusion, patients with their first onset of lupus during pregnancy generally have more severe disease with higher prevalence of renal and platelet involvement.

  14. The Relationship of Magnetotail Flow Bursts and Ground Onset Signatures

    Science.gov (United States)

    Kepko, Larry; Spanswick, Emma; Angelopoulos, Vassilis; Donovan, Eric

    2010-01-01

    It has been known for decades that auroral substorm onset occurs on (or at least near) the most equatorward auroral arc, which is thought to map to the near geosynchronous region. The lack of auroral signatures poleward of this arc prior to onset has been a major criticism of flow-burst driven models of substorm onset. The combined THEMIS 5 spacecraft in-situ and ground array measurements provide an unprecedented opportunity to examine the causal relationship between midtail plasma flows, aurora, and ground magnetic signatures. I first present an event from 2008 using multi-spectral all sky imager data from Gillam and in-situ data from THEMIS. The multispectral data indicate an equatorward moving auroral form prior to substorm onset. When this forms reaches the most equatorward arc, the arc brightens and an auroral substorm begins. The THEMIS data show fast Earthward flows prior to onset as well. I discuss further the association of flow bursts and Pi2 pulsations, in the con text of the directly-driven Pi2 model. This model directly links flows and Pi2 pulsations, providing an important constraint on substorm onset theories.

  15. Neuroimaging findings in late-onset schizophrenia and bipolar disorder.

    Science.gov (United States)

    Hahn, Changtae; Lim, Hyun Kook; Lee, Chang Uk

    2014-03-01

    In recent years, there has been an increasing interest in late-onset mental disorders. Among them, geriatric schizophrenia and bipolar disorder are significant health care risks and major causes of disability. We discussed whether late-onset schizophrenia (LOS) and late-onset bipolar (LOB) disorder can be a separate entity from early-onset schizophrenia (EOS) and early-onset bipolar (EOB) disorder in a subset of late-life schizophrenia or late-life bipolar disorder through neuroimaging studies. A literature search for imaging studies of LOS or LOB was performed in the PubMed database. Search terms used were "(imaging OR MRI OR CT OR SPECT OR DTI OR PET OR fMRI) AND (schizophrenia or bipolar disorder) AND late onset." Articles that were published in English before October 2013 were included. There were a few neuroimaging studies assessing whether LOS and LOB had different disease-specific neural substrates compared with EOS and EOB. These researches mainly observed volumetric differences in specific brain regions, white matter hyperintensities, diffusion tensor imaging, or functional neuroimaging to explore the differences between LOS and LOB and EOS and EOB. The aim of this review was to highlight the neural substrates involved in LOS and LOB through neuroimaging studies. The exploration of neuroanatomical markers may be the key to the understanding of underlying neurobiology in LOS and LOB.

  16. Maturation of kisspeptinergic neurons coincides with puberty onset in male rats

    DEFF Research Database (Denmark)

    Bentsen, Agnete H; Ansel, Laura; Simonneaux, Valerie

    2010-01-01

    receptor is the primary component in the initiation of puberty and where in the hypothalamus regulation of the kisspeptin/Kiss1R system occurs is unresolved. Using immunohistochemistry and in situ hybridization, we analyzed the level of Kiss1 mRNA and kisspeptin-immunoreactivity in the anteroventral...... periventricular nucleus (AVPV) and the arcuate nucleus of male rats along pubertal development. Neurons expressing Kiss1 mRNA were first detected at PND15, but increased significantly around puberty, and declined again in the adult rat. While virtually no immunoreactive cell bodies were detectable in the AVPV...... that the regulation of kisspeptin synthesis and release are key events in puberty onset in the male rat....

  17. Evidence for apolipoprotein E {epsilon}4 association in early-onset Alzheimer`s patients with late-onset relatives

    Energy Technology Data Exchange (ETDEWEB)

    Perez-Tur, J.; Delacourte, A.; Chartier-Harlin, M.C. [INSERM, Rouen (France)] [and others

    1995-12-18

    Recently several reports have extended the apolipoprotein E (APOE) {epsilon}4 association found in late-onset Alzheimer`s disease (LOAD) patients to early-onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset {<=}60 years) in which family history was carefully assessed and in 109 controls. We show that the APOE {epsilon}A allele frequency is increased only in the subset of patients who belong to families where LOAD secondary cases are present. Our sampling scheme permits us to demonstrate that, for an individual, bearing at least one {epsilon}4 allele increases both the risk of AD before age 60 and the probability of belonging to a family with late-onset affected subjects. Our results suggest that a subset of EOAD cases shares a common determinism with LOAD cases. 19 refs., 3 tabs.

  18. Development of a novel mouse model of amodiaquine-induced liver injury with a delayed onset.

    Science.gov (United States)

    Metushi, Imir G; Cai, Ping; Dervovic, Dzana; Liu, Feng; Lobach, Alexandra; Nakagawa, Tetsuya; Uetrecht, Jack

    2015-01-01

    Amodiaquine (AQ) treatment is associated with a high incidence of idiosyncratic drug-induced liver injury (IDILI) and agranulocytosis. Evidence suggests that AQ-induced IDILI is immune mediated. A significant impediment to mechanistic studies of IDILI is the lack of valid animal models. This study reports the first animal model of IDILI with characteristics similar to mild IDILI in humans. Treatment of female C57BL/6 mice with AQ led to liver injury with delayed onset, which resolved despite continued treatment. Covalent binding of AQ was detected in the liver, which was greater in female than in male mice, and higher in the liver than in other organs. Covalent binding in the liver was maximal by Day 3, which did not explain the delayed onset of alanine aminotransferase (ALT) elevation. However, coincident with the elevated serum ALT, infiltration of liver and splenic mononuclear cells and activation of CD8 T-cells within the liver were identified. By Week 7, when ALT levels had returned close to normal, down-regulation of several inflammatory cytokines and up-regulation of PD-1 on T-cells suggested induction of immune tolerance. Treatment of Rag1(-/-) mice with AQ resulted in higher ALT activities than C57BL/6 mice, which suggested that the adaptive immune response was responsible for immune tolerance. In contrast, depletion of NK cells significantly attenuated the increase in ALT, which implied a role for NK cells in mild AQ-induced IDILI. This is the first example of a delayed-onset animal model of IDILI that appears to be immune-mediated.

  19. Cardiovascular disease risk factors after early-onset preeclampsia, late-onset preeclampsia, and pregnancy-induced hypertension.

    Science.gov (United States)

    Veerbeek, Jan H W; Hermes, Wietske; Breimer, Anath Y; van Rijn, Bas B; Koenen, Steven V; Mol, Ben W; Franx, Arie; de Groot, Christianne J M; Koster, Maria P H

    2015-03-01

    Observational studies have shown an increased lifetime risk of cardiovascular disease (CVD) in women who experienced a hypertensive disorder in pregnancy. This risk is related to the severity of the pregnancy-related hypertensive disease and gestational age at onset. However, it has not been investigated whether these differences in CVD risk factors are already present at postpartum cardiovascular screening. We evaluated postpartum differences in CVD risk factors in 3 subgroups of patients with a history of hypertensive pregnancy. We compared the prevalence of common CVD risk factors postpartum among 448 women with previous early-onset preeclampsia, 76 women with previous late-onset preeclampsia, and 224 women with previous pregnancy-induced hypertension. Women with previous early-onset preeclampsia were compared with women with late-onset preeclampsia and pregnancy-induced hypertension and had significantly higher fasting blood glucose (5.29 versus 4.80 and 4.83 mmol/L), insulin (9.12 versus 6.31 and 6.7 uIU/L), triglycerides (1.32 versus 1.02 and 0.97 mmol/L), and total cholesterol (5.14 versus 4.73 and 4.73 mmol/L). Almost half of the early-onset preeclampsia women had developed hypertension, as opposed to 39% and 25% of women in the pregnancy-induced hypertension and late-onset preeclampsia groups, respectively. Our data show differences in the prevalence of common modifiable CVD risk factors postpartum and suggest that prevention strategies should be stratified according to severity and gestational age of onset for the hypertensive disorders of pregnancy.

  20. Early identification of 'acute-onset' chronic inflammatory demyelinating polyneuropathy.

    Science.gov (United States)

    Sung, Jia-Ying; Tani, Jowy; Park, Susanna B; Kiernan, Matthew C; Lin, Cindy Shin-Yi

    2014-08-01

    Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropathy at an early stage, with the aim to better guide treatment. Clinical assessment, staging and nerve excitability tests were undertaken on patients initially fulfilling the diagnostic criteria of acute inflammatory demyelinating polyneuropathy soon after symptom onset and their initial presentation. Patients were subsequently followed up for minimum of 12 months to determine if their clinical presentations were more consistent with acute-onset chronic inflammatory demyelinating polyneuropathy. Clinical severity as evaluated by Medical Research Council sum score and Hughes functional grading scale were not significantly different between the two cohorts. There was no difference between the time of onset of initial symptoms and nerve excitability test assessment between the two cohorts nor were there significant differences in conventional nerve conduction study parameters. However, nerve excitability test profiles obtained from patients with acute inflammatory demyelinating polyneuropathy demonstrated abnormalities in the recovery cycle of excitability, including significantly reduced superexcitability (P chronic inflammatory demyelinating polyneuropathy, a different pattern occurred with the recovery cycle shifted downward (increased superexcitability, P inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy could be clearly separated into two non-overlapping groups. Studies of nerve excitability may be able to

  1. Computational modeling predicts the ionic mechanism of late-onset responses in unipolar brush cells.

    Science.gov (United States)

    Subramaniyam, Sathyaa; Solinas, Sergio; Perin, Paola; Locatelli, Francesca; Masetto, Sergio; D'Angelo, Egidio

    2014-01-01

    Unipolar Brush Cells (UBCs) have been suggested to play a critical role in cerebellar functioning, yet the corresponding cellular mechanisms remain poorly understood. UBCs have recently been reported to generate, in addition to early-onset glutamate receptor-dependent synaptic responses, a late-onset response (LOR) composed of a slow depolarizing ramp followed by a spike burst (Locatelli et al., 2013). The LOR activates as a consequence of synaptic activity and involves an intracellular cascade modulating H- and TRP-current gating. In order to assess the LOR mechanisms, we have developed a UBC multi-compartmental model (including soma, dendrite, initial segment, and axon) incorporating biologically realistic representations of ionic currents and a cytoplasmic coupling mechanism regulating TRP and H channel gating. The model finely reproduced UBC responses to current injection, including a burst triggered by a low-threshold spike (LTS) sustained by CaLVA currents, a persistent discharge sustained by CaHVA currents, and a rebound burst following hyperpolarization sustained by H- and CaLVA-currents. Moreover, the model predicted that H- and TRP-current regulation was necessary and sufficient to generate the LOR and its dependence on the intensity and duration of mossy fiber activity. Therefore, the model showed that, using a basic set of ionic channels, UBCs generate a rich repertoire of bursts, which could effectively implement tunable delay-lines in the local microcircuit.

  2. Mechanical loading induces the expression of a Pol I regulon at the onset of skeletal muscle hypertrophy.

    Science.gov (United States)

    von Walden, Ferdinand; Casagrande, Vandre; Östlund Farrants, Ann-Kristin; Nader, Gustavo A

    2012-05-15

    The main goal of the present study was to investigate the regulation of ribosomal DNA (rDNA) gene transcription at the onset of skeletal muscle hypertrophy. Mice were subjected to functional overload of the plantaris by bilateral removal of the synergist muscles. Mechanical loading resulted in muscle hypertrophy with an increase in rRNA content. rDNA transcription, as determined by 45S pre-rRNA abundance, paralleled the increase in rRNA content and was consistent with the onset of the hypertrophic response. Increased transcription and protein expression of c-Myc and its downstream polymerase I (Pol I) regulon (POL1RB, TIF-1A, PAF53, TTF1, TAF1C) was also consistent with the increase in rRNA. Similarly, factors involved in rDNA transcription, such as the upstream binding factor and the Williams syndrome transcription factor, were induced by mechanical loading in a corresponding temporal fashion. Chromatin immunoprecipitation revealed that these factors, together with Pol I, were enriched at the rDNA promoter. This, in addition to an increase in histone H3 lysine 9 acetylation, demonstrates that mechanical loading regulates rRNA synthesis by inducing a gene expression program consisting of a Pol I regulon, together with accessory factors involved in transcription and chromatin remodeling at the rDNA promoter. Altogether, these data indicate that transcriptional and epigenetic mechanisms take place in the regulation of ribosome production at the onset of muscle hypertrophy.

  3. The association between prolonged sleep onset latency and heart rate dynamics among young sleep-onset insomniacs and good sleepers.

    Science.gov (United States)

    Tsai, Hsin-Jung; Kuo, Terry B J; Lin, Yu-Cheng; Yang, Cheryl C H

    2015-12-30

    A blunting of heart rate (HR) reduction during sleep has been reported to be associated with increased all-cause mortality. An increased incident of cardiovascular events has been observed in patients with insomnia but the relationship between nighttime HR and insomnia remains unclear. Here we investigated the HR patterns during the sleep onset period and its association with the length of sleep onset latency (SOL). Nineteen sleep-onset insomniacs (SOI) and 14 good sleepers had their sleep analyzed. Linear regression and nonlinear Hilbert-Huang transform (HHT) of the HR slope were performed in order to analyze HR dynamics during the sleep onset period. A significant depression in HR fluctuation was identified among the SOI group during the sleep onset period when linear regression and HHT analysis were applied. The magnitude of the HR reduction was associated with both polysomnography-defined and subjective SOL; moreover, we found that the linear regression and HHT slopes of the HR showed great sensitivity with respect to sleep quality. Our findings indicate that HR dynamics during the sleep onset period are sensitive to sleep initiation difficulty and respond to the SOL, which indicates that the presence of autonomic dysfunction would seem to affect the progress of falling asleep.

  4. Phenotypic cognitive impairment in late-onset delusional disorder.

    Science.gov (United States)

    Harris, Ben S; Kotsopoulos, Eleftheria J; Yamin, Sami

    2014-06-01

    Previous use of heterogeneous diagnostic criteria and insensitive cognitive measures has impeded clarification of the extent and type of cognitive impairment specific to late-onset delusional disorder. We examined whether clinical presentations of late-onset delusional disorder are associated with prodromal or established dementia, and whether it might be a discrete clinical syndrome characterized by its own profile of cognitive impairment. Nineteen patients with late-onset delusional disorder from a hospital psychiatric service and 20 patients with dementia of the Alzheimer's type (AD) from an outpatient memory clinic were recruited in a consecutive case series. All patients underwent comprehensive neuropsychological assessment that included general intellectual function, executive function, new learning and delayed memory, language, processing speed, and visuo-perceptual skills. Late-onset delusional disorder patients showed moderate impairment to conceptual reasoning, visual object recognition, processing speed, and confrontation naming. Severe impairment appeared in visuo-perceptual planning and organization, and divided attention. Compared with the Alzheimer's disease (AD) group, the late-onset delusional disorder group demonstrated significantly poorer visuo-perceptual skills but a significantly better capacity to consolidate information into delayed memory. A high rate of marked cognitive impairment occurs in late-onset delusional disorder. There was evidence of a conceptual reasoning deficit, plus the presence of a visuo-perceptual impairment affecting object recognition. This impairment profile can explain the genesis and maintenance of the observed delusions. Understanding late-onset delusional disorder as other than a purely psychiatric phenomenon or a precursor to AD will lead to better assessment and management approaches.

  5. Boundary effects and the onset of Taylor vortices

    Science.gov (United States)

    Rucklidge, A. M.; Champneys, A. R.

    2004-05-01

    It is well established that the onset of spatially periodic vortex states in the Taylor-Couette flow between rotating cylinders occurs at the value of Reynolds number predicted by local bifurcation theory. However, the symmetry breaking induced by the top and bottom plates means that the true situation should be a disconnected pitchfork. Indeed, experiments have shown that the fold on the disconnected branch can occur at more than double the Reynolds number of onset. This leads to an apparent contradiction: why should Taylor vortices set in so sharply at the Reynolds number predicted by the symmetric theory, given such large symmetry-breaking effects caused by the boundary conditions? This paper offers a generic explanation. The details are worked out using a Swift-Hohenberg pattern formation model that shares the same qualitative features as the Taylor-Couette flow. Onset occurs via a wall mode whose exponential tail penetrates further into the bulk of the domain as the driving parameter increases. In a large domain of length L, we show that the wall mode creates significant amplitude in the centre at parameter values that are O( L-2) away from the value of onset in the problem with ideal boundary conditions. We explain this as being due to a Hamiltonian Hopf bifurcation in space, which occurs at the same parameter value as the pitchfork bifurcation of the temporal dynamics. The disconnected anomalous branch remains O(1) away from the onset parameter since it does not arise as a bifurcation from the wall mode.

  6. Psychosocial influences in onset and progression of late life disability.

    Science.gov (United States)

    Mendes de Leon, Carlos F; Rajan, Kumar B

    2014-03-01

    Disability in older age has been related to several psychosocial characteristics, including social networks, social engagement, and depression. However, the exact role of these characteristics in the disablement process remains uncertain. Data come from a population-based study of black and white adults aged ≥65 years (N = 5,306), with up to 9 yearly data on the primary outcome measure, activities of daily living (ADL) disability. We use a two-part regression model to simultaneously test the association between each psychosocial characteristic and both onset and progression of ADL disability, while controlling for demographic variables, education, and mode of interview in the first model and health status variables in the second model. Social networks were negatively associated with onset of ADL disability but not associated with progression. The association became non-significant after adjustment for health status. Social engagement was negatively associated with both onset and progression of disability, even after adjustment for health status. Depression was significantly associated with onset of disability after adjustment for health status but not with progression of disability. The results suggest a differential role for psychosocial characteristics in the disablement process, with generally stronger associations for transitions to onset of ADL disability than progression of ADL disability.

  7. Premature birth and age at onset of puberty.

    Science.gov (United States)

    Hui, Lai Ling; Leung, Gabriel M; Lam, Tai Hing; Schooling, C Mary

    2012-05-01

    Premature birth is associated with poor metabolic health in both sexes, potentially via earlier pubertal timing. We examined the associations of gestational age and premature birth (Premature girls reached puberty about 4 months later than girls with ≥ 41 weeks' gestation (time ratio = 1.04 [95% confidence interval = 1.01-1.06]), adjusted for mother' age of menarche, mother's place of birth, and smoking during pregnancy. Gestational age was not associated with onset of puberty in boys (test for interaction by sex, P Premature birth was not related to earlier onset of puberty; instead, premature girls had later onset of puberty. Thus, the association between premature birth and subsequent cardiovascular risk is probably not mediated through the timing of pubertal onset. It is unclear whether onset, duration, or tempo of puberty is more relevant to the detrimental consequences of early puberty. Further studies investigating intrauterine, infant, and childhood influences on the duration and tempo of puberty may help unravel the early origins of cardiovascular diseases.

  8. Common mechanisms of onset of cancer and neurodegenerative diseases.

    Science.gov (United States)

    Ariga, Hiroyoshi

    2015-01-01

    Onset of cancer and neurodegenerative disease occurs by abnormal cell growth and neuronal cell death, respectively, and the number of patients with both diseases has been increasing in parallel with an increase in mean lifetime, especially in developed countries. Although both diseases are sporadic, about 10% of the diseases are genetically inherited, and analyses of such familial forms of gene products have contributed to an understanding of the molecular mechanisms underlying the onset and pathogenesis of these diseases. I have been working on c-myc, a protooncogene, for a long time and identified various c-Myc-binding proteins that play roles in c-Myc-derived tumorigenesis. Among these proteins, some proteins have been found to be also responsible for the onset of neurodegenerative diseases, including Parkinson's disease, retinitis pigmentosa and cerebellar atrophy. In this review, I summarize our findings indicating the common mechanisms of onset between cancer and neurodegenerative diseases, with a focus on genes such as DJ-1 and Myc-Modulator 1 (MM-1) and signaling pathways that contribute to the onset and pathogenesis of cancer and neurodegenerative diseases.

  9. Etiology and pathogenesis of late-onset Alzheimer's disease.

    Science.gov (United States)

    Balin, Brian J; Hudson, Alan P

    2014-03-01

    Alzheimer's disease (AD) is a neurodegenerative condition that occurs in two forms, an early-onset form that is genetically determined and a far more common late-onset form that is not. In both cases, the disease results in severe cognitive dysfunction, among other problems, and the late-onset form of the disease is now considered to be the most common cause of dementia among the elderly. While a good deal of research has been focused on elucidating the etiology of the late-onset form for more than two decades, results to date have been modest and have not yet engendered useful therapeutic strategies for cure of the disease. In this review, we discuss the prevalent ideas that have governed this research for several years, and we challenge these ideas with alternative findings suggesting a multifactorial etiology. We review promising newer ideas that may prove effective as therapeutic interventions for late-onset AD, as well as providing reliable means of earlier and more specific diagnosis of the disease process. In the discussions included here, we reference relevant clinical and basic science literature underlying research into disease etiology and pathogenesis, and we highlight current reviews on the various topics addressed.

  10. Atypical antipsychotics in the treatment of early-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Hrdlicka M

    2015-04-01

    Full Text Available Michal Hrdlicka, Iva Dudova Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Atypical antipsychotics (AAPs have been successfully used in early-onset schizophrenia (EOS. This review summarizes the randomized, double-blind, controlled studies of AAPs in EOS, including clozapine, risperidone, olanzapine, aripiprazole, paliperidone, quetiapine, and ziprasidone. No significant differences in efficacy between AAPs were found, with the exception of clozapine and ziprasidone. Clozapine demonstrated superior efficacy in treatment-resistant patients with EOS, whereas ziprasidone failed to demonstrate efficacy in the treatment of EOS. Our review also focuses on the onset of action and weight gain associated with AAPs. The data on onset of action of AAPs in pediatric psychiatry are scanty and inconsistent. Olanzapine appears to cause the most significant weight gain in patients with EOS, while ziprasidone and aripiprazole seem to cause the least. Keywords: early-onset schizophrenia, atypical antipsychotics, efficacy, onset of action, weight gain

  11. Registry of Youth Onset Diabetes in India (YDR)

    Science.gov (United States)

    Praveen, Pradeep A.; Madhu, Sri Venkata; Mohan, Viswanathan; Das, Siddhartha; Kakati, Sanjeeb; Shah, Nalini; Chaddha, Manoj; Bhadada, Sanjay Kumar; Das, Ashok Kumar; Shukla, Deepak Kumar; Kaur, Tanvir; Tandon, Nikhil

    2016-01-01

    Background: With the aim of addressing the relative scarcity of information on youth-onset diabetes in India, the Indian Council of Medical Research (ICMR) decided to establish the Registry of People with Diabetes with Young Age at Onset (YDR) in 2006. The major objectives of YDR are to generate information on disease pattern or types of youth-onset diabetes including their geographical variations within India and to estimate the burden of diabetes complications. Methods: YDR is an observational multicenter clinic based registry enlisting physician diagnosed diabetes in individuals below 25 years of age. Diabetes was classified using symptom based clinical criteria. YDR data collection is coordinated through regional collaborating centers and their interacting reporting centers across India. A baseline and an annual follow-up proformas are used to obtain information on sociodemographic details, clinical profile, and anthropometric and laboratory measurements of the patients. Results: In phase 1, the registry has enrolled 5546 patients, in which type 1 diabetes mellitus (T1DM) was the most prevalent (63.9%), followed by youth-onset type 2 diabetes mellitus (T2DM) (25.3%). Conclusion: This registry provides a unique opportunity to study the natural history of youth-onset diabetes in India. PMID:27179010

  12. Amyloid imaging with [(18)F]florbetapir in geriatric depression: early-onset versus late-onset.

    Science.gov (United States)

    Tateno, Amane; Sakayori, Takeshi; Higuchi, Makoto; Suhara, Tetsuya; Ishihara, Keiichi; Kumita, Shinichiro; Suzuki, Hidenori; Okubo, Yoshiro

    2015-07-01

    We examined patients with mild cognitive impairment (MCI) with a history of geriatric depression (GD) and healthy controls (HC) to evaluate the effect of beta-amyloid (Aβ) pathology on the pathology of GD by using [(18)F]florbetapir PET. Thirty-three elderly patients (76.7 ± 4.2 years) and 22 healthy controls (HC; 72.0 ± 4.5 years, average ± SD) were examined by [(18)F]florbetapir positron emission tomography (PET) to quantify the standard uptake value ratio (SUVR) as the degree of amyloid accumulation, by MRI to determine the degree of atrophy, by Mini-Mental State Examination for cognitive functions, and by Geriatric Depression Scale for the severity of depression, and by Clinical Dementia Rating for activity of daily living (ADL). The cut-off value of 1.08 for SUVR was defined as Aβ-positive. Of the patients and HC, 39.4% and 27.3%, respectively, were beta-amyloid-positive. The onset age of GD was significantly correlated with SUVR (r = 0.44, p depression and ADL, and brain atrophy. GD + Aβ had significantly older average ± SD age at onset of GD (73.6 ± 7.1 versus 58.7 ± 17.8, p < 0.01) and significantly shorter average ± SD time between onset of GD and PET scan day (3.1 ± 5.2 years versus 18.1 ± 18.6 years, p < 0.001) than GD-Aβ. Our results showed that the rate of Aβ positivity was higher in late-onset GD and that onset-age was associated with SUVR, suggesting that the later the onset of GD, the more Aβ pathology affected its onset. Copyright © 2014 John Wiley & Sons, Ltd.

  13. Developmental Control of Cell-Cycle Compensation Provides a Switch for Patterned Mitosis at the Onset of Chordate Neurulation.

    Science.gov (United States)

    Ogura, Yosuke; Sasakura, Yasunori

    2016-04-18

    During neurulation of chordate ascidians, the 11th mitotic division within the epidermal layer shows a posterior-to-anterior wave that is precisely coordinated with the unidirectional progression of the morphogenetic movement. Here we show that the first sign of this patterned mitosis is an asynchronous anterior-to-posterior S-phase length and that mitotic synchrony is reestablished by a compensatory asynchronous G2-phase length. Live imaging combined with genetic experiments demonstrated that compensatory G2-phase regulation requires transcriptional activation of the G2/M regulator cdc25 by the patterning genes GATA and AP-2. The downregulation of GATA and AP-2 at the onset of neurulation leads to loss of compensatory G2-phase regulation and promotes the transition to patterned mitosis. We propose that such developmentally regulated cell-cycle compensation provides an abrupt switch to spatially patterned mitosis in order to achieve the coordination between mitotic timing and morphogenesis.

  14. Regulating Transplants

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Legislation to determine brain death is viewed as essential in controlling the organ transplant industry Organ transplant represents a very sensitive and complicated issue. Experts say the temporary administrative regulations recently promulgated by the Central Government are an important step, but relevant laws and regulations must follow. Among these, the

  15. Early onset of treatment effects with oral risperidone

    Directory of Open Access Journals (Sweden)

    Naber Dieter

    2007-01-01

    Full Text Available Abstract Background The dogma of a delayed onset of antipsychotic treatment effects has been maintained over the past decades. However, recent studies have challenged this concept. We therefore performed an analysis of the onset of antipsychotic treatment effects in a sample of acutely decompensated patients with schizophrenia. Methods In this observational study, 48 inpatients with acutely decompensated schizophrenia were offered antipsychotic treatment with oral risperidone. PANSS-ratings were obtained on day 0, day 1, day 3, day 7 and day 14. Results Significant effects of treatment were already present on day 1 and continued throughout the study. The PANSS positive subscore and the PANSS total score improved significantly more than the PANSS negative subscore. Conclusion Our results are consistent with the growing number of studies suggesting an early onset of antipsychotic treatment effects. However, non-pharmacological effects of treatment also need to be taken into consideration.

  16. Laboratory observation of localized onset of magnetic reconnection.

    Science.gov (United States)

    Katz, Noam; Egedal, Jan; Fox, Will; Le, Ari; Bonde, Jeff; Vrublevskis, Arturs

    2010-06-25

    Magnetic reconnection is a fundamental process in plasmas that results in the often explosive release of stored magnetic energy, but the trigger for its onset is not well understood. We explore this trigger for fast reconnection in toroidal experiments using a magnetic x-type geometry in the strong guide-field regime. We find that the onset occurs asymmetrically: the reconnection begins on one side of the torus and propagates around approximately at the Alfvén speed. The fast reconnection occurs only in the presence of a global plasma mode, which breaks the axisymmetry and enables the current at the x line to decrease sharply. A simple semiempirical model is used to describe the onset's growth rate.

  17. Age at onset of geriatric depression and sensorineural hearing deficits.

    Science.gov (United States)

    Kalayam, B; Meyers, B S; Kakuma, T; Alexopoulos, G S; Young, R C; Solomon, S; Shotland, R; Nambudiri, D; Goldsmith, D

    1995-11-15

    Comorbidity of sensorineural hearing deficits and both depressive states and dementia in late life provided the rationale for this investigation. Cognitively intact geriatric major depressives (n = 43) were assessed for depressive symptoms, cognitive performance, and delusions while symptomatic, and following treatment, when audiometry was performed. Late-onset depressed patients (LOD) had more hearing deficits compared to early-onset depressives (EOD). Age at onset of depression was found to have a significant effect on Pure-Tone Thresholds for 0.5-4.0 kHz and on Word Recognition in Noise in the better ear (0.001 hearing loss and both the course of geriatric depression and its relationship to dementia.

  18. Characterization of delamination onset and growth in a composite laminate

    Science.gov (United States)

    Obrien, T. K.

    1981-01-01

    The onset and growth of delaminations in unnotched (+ or - 30/+ or - 30/90/90 bar) sub S graphite epoxy laminates is described quantitatively. These laminates, designed to delaminate at the edges under tensile loads, were tested and analyzed. Delamination growth and stiffness loss were monitored nondestructively. Laminate stiffness decreased linearly with delamination size. The strain energy release rate, G, associated with delamination growth, was calculated from two analyses. A critical G for delamination onset was determined, and then was used to predict the onset of delaminations in (+45 sub n/-45 sub n/o sub n/90 sub n) sub s (n=1,2,3) laminates. A delamination resistance curve (R curve) was developed to characterize the observed stable delamination growth under quasi static loading. A power law correlation between G and delamination growth rates in fatigue was established.

  19. A prospective study of the onset of symptoms of pregnancy.

    Science.gov (United States)

    Sayle, Amy E; Wilcox, Allen J; Weinberg, Clarice R; Baird, Donna D

    2002-07-01

    The objective of this study was to provide prospectively collected data on the onset of pregnancy symptoms. Two hundred twenty-one women attempting pregnancy kept daily records of the occurrence of symptoms of pregnancy. Among 136 women delivering live infants, half began experiencing symptoms by day 36 after their last menstrual period (LMP), and 89% by the end of the eighth week. Onset of symptoms occurred later in pregnancies that went on to miscarry. Among 48 women with biochemically detected pregnancy loss before 6 weeks LMP, symptoms were substantially reduced but not entirely absent. Women who smoked tobacco or marijuana tended to have delayed onset of symptoms. Nearly 90% of women with successful pregnancies experience symptoms within 8 weeks LMP. Even pregnancies lost very early (before 6 weeks) are sometimes symptomatic. The earliest symptoms do not begin until after key stages of embryogenesis, reinforcing the need for women to initiate sound health behaviors before pregnancy is apparent. Published by Elsevier Science Inc.

  20. Childhood-onset HAM/TSP with progressive cognitive impairment.

    Science.gov (United States)

    Zorzi, Giovanna; Mancuso, Roberta; Nardocci, Nardo; Farina, Laura; Guerini, Franca Rosa; Ferrante, Pasquale

    2010-04-01

    HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic myelopathy, usually with adult-onset. Very few cases of childhood-onset have been described, most presenting with progressive paraparesis and sphincteric disturbances as in the adult form. Here we report a young male with childhood-onset of HAM/TSP and progressive cognitive and behavioral disturbances. A serological screening revealed HTLV-I infection, confirmed by Western Immunoblotting analysis. Molecular characterization of amplified HTLV-I proviral DNA has been performed both in the patient and his mother by LTR sequence analysis, and HLA genotype inheritance was evaluated. Our case indicates the possibility that cognitive dysfunctions may be one manifestation of HTLV-I infection in childhood.

  1. H-alpha features with hot onsets. I. Ellerman bombs

    CERN Document Server

    Rutten, R J

    2016-01-01

    Ellerman bombs are transient brightenings of the wings of the Balmer lines that uniquely mark reconnection in the solar photosphere. They are also bright in strong Ca II and ultraviolet lines and in ultraviolet continua, but they are not visible in the optical continuum and the Na I D and Mg I b lines. These discordant visibilities invalidate all published Ellerman bomb modeling. I argue that the assumption of Saha-Boltzmann lower-level populations is informative to estimate bomb-onset opacities for these diverse diagnostics, even and especially for H-alpha, and employ such estimates to gauge the visibilities of Ellerman bomb onsets in all of them. They constrain Ellerman bomb formation to temperatures 10,000 - 20,000 K and hydrogen densities around 10^15 cm^-3. Similar arguments likely hold for H-alpha visibility in other transient phenomena with hot and dense onsets.

  2. Delayed-onset bilateral abducens paresis after head trauma

    Directory of Open Access Journals (Sweden)

    Pravin Salunke

    2012-01-01

    Full Text Available Bilateral sixth nerve paresis following closed head injury, though rare, is a known entity. However, delayed-onset post-traumatic bilateral abducens paresis is extremely rare. We present two cases. The first patient had onset of bilateral abducens paresis 2 weeks after closed head injury and the second patient after 3 days. The cause in the former was detected to be chronic subdural hematoma and in the latter is speculated to be edema/ischemia due to injury to soft tissue structures housing these nerves. The delayed onset of bilateral abducens paresis following head injury may vary according to the cause. There may be another mechanism of injury apart from direct trauma. Though rare, it needs to be evaluated and may have a treatable cause like elevated intracranial pressure.

  3. Screening for late-onset Pompe disease in Finland.

    Science.gov (United States)

    Palmio, Johanna; Auranen, Mari; Kiuru-Enari, Sari; Löfberg, Mervi; Bodamer, Olaf; Udd, Bjarne

    2014-11-01

    Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA gene. The estimated frequency of late-onset Pompe disease is around 1:60,000. However, only two infantile and one late-onset Pompe patients have been reported in Finland with a population of 5 million. We screened for late-onset Pompe disease in a cohort of undetermined myopathy patients with proximal muscle weakness and/or elevated serum creatine kinase values. Acid α-glucosidase (GAA) activity in dried blood spots was measured and clinical data collected in 108 patients. Four patients had low normal GAA activity; all the others had activities well within the normal range. Re-analyses of these patients did not reveal new Pompe patients. Our findings suggest that Pompe disease is extremely rare in Finland. Finland is an example of an isolated population with enrichment of certain mutations for genetic disorders and low occurrence of some autosomal recessive diseases.

  4. The onset and advance of the Asian summer monsoon

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Based on the daily outgoing longwave radiation (OLR) data from National Oceanic and Atmospheric Administration (NOAA) satellites, the Climate Prediction Center's merged analysis of precipitation (CMAP) data and the National Centers for Environmental Prediction/National Center for Atmospheric Research (NCEP/NCAR) reanalysis dataset, the mean intraseasonal variability of the Asian summer monsoon (ASM) is investigated by using power spectrum analysis, band-pass filter, and diagnostic analyses. The processes of the onset and advance of monsoon over the southern part of Indochina Peninsula, the east coast of Bay of Bengal, the South China Sea and the Indian subcontinent are explored. It is found that there is an abrupt change in OLR, precipitation and zonal wind during the onset and advance of the ASM. It is also indicated that the southern part of Indochina Peninsula and the adjacent Andaman Sea is the region where the earliest onset of the ASM occurs in the 2nd pentad of May.

  5. Late-onset adenosine deaminase deficiency presenting with Heck's disease.

    Science.gov (United States)

    Artac, Hasibe; Göktürk, Bahar; Bozdemir, Sefika Elmas; Toy, Hatice; van der Burg, Mirjam; Santisteban, Ines; Hershfield, Michael; Reisli, Ismail

    2010-08-01

    Focal epithelial hyperplasia, also known as Heck's disease, is a rare but distinctive entity of viral etiology with characteristic clinical and histopathological features. It is a benign, asymptomatic disease of the oral mucosa caused by human papilloma viruses (HPV). Previous studies postulated an association between these lesions and immunodeficiency. Genetic deficiency of adenosine deaminase (ADA) results in varying degrees of immunodeficiency, including neonatal onset severe combined immunodeficiency (ADA-SCID), and milder, later onset immunodeficiency. We report a 12-year-old girl with the late onset-ADA deficiency presenting with Heck's disease. Our case report should draw attention to the possibility of immunodeficiency in patients with HPV-induced focal epithelial hyperplasia.

  6. Case of infantile onset spinocerebellar ataxia type 5.

    Science.gov (United States)

    Jacob, Francois-Dominique; Ho, Eugenia S; Martinez-Ojeda, Mayra; Darras, Basil T; Khwaja, Omar S

    2013-10-01

    Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and swallowing difficulty. The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood. Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving β-III spectrin (SPTBN2), has been described in 3 families. It typically consists of a slowly progressive spinocerebellar ataxia with onset in the third decade. The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia.

  7. AA amyloidosis associated with systemic-onset juvenile idiopathic arthritis.

    Science.gov (United States)

    Saha, Abhijeet; Chopra, Yogiraj; Theis, Jason D; Vrana, Julie A; Sethi, Sanjeev

    2013-10-01

    We report a 12-year-old boy with nephrotic syndrome due to renal AA amyloidosis. The AA amyloidosis was associated with a 3-year history of systemic-onset juvenile idiopathic arthritis. The presence of serum amyloid A protein was confirmed by laser microdissection of Congo Red-positive glomeruli and vessels followed by liquid chromatography and tandem mass spectrometry; this analysis excluded hereditary and familial amyloidosis. Aggressive management of the systemic-onset juvenile idiopathic arthritis resulted in improvement in clinical and laboratory parameters. The case represents an unusual cause of nephrotic syndrome in children. Early diagnosis of renal amyloidosis and management of systemic-onset juvenile idiopathic arthritis is paramount to preventing progression of kidney disease.

  8. Onset of type 1 diabetes mellitus in two patients with maturity onset diabetes of the young.

    Science.gov (United States)

    Maltoni, Giulio; Zucchini, Stefano; Scipione, Mirella; Mantovani, Vilma; Salardi, Silvana; Cicognani, Alessandro

    2012-03-01

    The association between maturity onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM) has been rarely described. We report two patients affected by MODY who developed T1DM. Case 1: a 4-yr-old girl referred for glycosuria presented hemoglobin A1c (HbA1c) of 6.6%. Islet cell antibodies (ICA) and anti-glutamic acid decarboxylase (GADA) were initially negative. As her father, uncle and grandmother showed mild hyperglycemia, they were screened for MODY 2. A novel mutation in glucokinase gene was found in the family. Few months later, her glycemic control worsened consistently and she required insulin treatment. A high titer of GADA and ICA was then detected. Six years afterwards insulin requirement is 0.8 U/kg and HbA1c 6.7%. Case 2: a 15-yr-old boy treated for growth hormone deficiency was found with a blood glucose level of 106 mg/dL. HbA1c was 7.2%, ICA and GADA were negative. Family history was positive for autoimmune diseases and type 2 diabetes mellitus. The patient was investigated for MODY 2 and MODY 3, and a mutation of hepatocyte nuclear factor-1 alpha gene was found. The same mutation was found in the mother who had never been referred for hyperglycemia. After 1 yr, due to an unjustified worsening of the metabolic control, autoimmunity was again investigated and a mild positivity was found. He then required insulin therapy and after 5 yr current HbA1c was 8.2%. The diagnosis of MODY does not exclude the risk of developing T1DM. Therefore autoimmunity should be investigated when ordinary treatments fail and metabolic control unexpectedly worsens. © 2011 John Wiley & Sons A/S.

  9. Onset of autumn shapes the timing of birth in Pyrenean chamois more than onset of spring.

    Science.gov (United States)

    Kourkgy, Charlotte; Garel, Mathieu; Appolinaire, Joël; Loison, Anne; Toïgo, Carole

    2016-03-01

    In seasonal environments, birth dates are a central component for a species' life history, with potential long-term fitness consequences. Yet our understanding of selective pressures of environmental changes on birth dates is limited in wild mammals due to the difficulty of data collection. In a context of rapid climate change, the question of a possible mismatch between plant phenology and birth phenology also remains unanswered for most species. We assessed whether and how the timing of birth in a mountain mammal (isard, also named Pyrenean chamois, Rupicapra pyrenaica pyrenaica) tracked changes in plant growing season, accounting for maternal traits, individual heterogeneity and population density. We not only focused on spring conditions but also assessed to what extent onset of autumn can be a driver of phenological biological events and compared the magnitude of the response to the magnitude of the environmental changes. We relied on a 22-year study based on intensively monitored marked individuals of known age. Births were highly synchronized (80% of kids born within 25 days) and highly repeatable (84%; between-female variation of 9.6 days, within-female variation of 4.2 days). Individual phenotypic plasticity allows females to respond rapidly to interannual changes in plant phenology but did not prevent the existence of a mismatch: a 10-day advance in the autumn or spring plant phenology led to 3.9 and 1.3 days advance in birth dates, respectively. Our findings suggest that plant phenology may act as a cue to induce important stages of the reproductive cycle (e.g. conception and gestation length), subsequently affecting parturition dates, and stressed the importance of focusing on long-term changes during spring for which females may show much lower adaptive potential than during autumn. These results also question the extent to which individual plasticity along with high heterogeneity among individuals will allow species to cope with demographic

  10. Dioxin Exposure and Age of Pubertal Onset among Russian Boys

    Science.gov (United States)

    Lee, Mary M.; Williams, Paige L.; Sergeyev, Oleg; Burns, Jane S.; Patterson, Donald G.; Turner, Wayman E.; Needham, Larry L.; Altshul, Larisa; Revich, Boris; Hauser, Russ

    2011-01-01

    Background: Animal data demonstrate associations of dioxin, furan, and polychlorinated biphenyl (PCB) exposures with altered male gonadal maturation. It is unclear whether these associations apply to human populations. Objectives: We investigated the association of dioxins, furans, PCBs, and corresponding toxic equivalent (TEQ) concentrations with pubertal onset among boys in a dioxin-contaminated region. Methods: Between 2003 and 2005, 499 boys 8–9 years of age were enrolled in a longitudinal study in Chapaevsk, Russia. Pubertal onset [stage 2 or higher for genitalia (G2+) or testicular volume (TV) > 3 mL] was assessed annually between ages 8 and 12 years. Serum levels at enrollment were analyzed by the Centers for Disease Control and Prevention, Atlanta, Georgia, USA. We used Cox proportional hazards models to assess age at pubertal onset as a function of exposure adjusted for potential confounders. We conducted sensitivity analyses excluding boys with pubertal onset at enrollment. Results: The median (range) total serum TEQ concentration was 21 (4–175) pg/g lipid, approximately three times higher than values in European children. At enrollment, boys were generally healthy and normal weight (mean body mass index, 15.9 kg/m2), with 30% having entered puberty by G2+ and 14% by TV criteria. Higher dioxin TEQs were associated with later pubertal onset by TV (hazard ratio = 0.68, 95% confidence interval, 0.49–0.95 for the highest compared with the lowest quartile). Similar associations were observed for 2,3,7,8-tetrachlorodibenzo-p-dioxin and dioxin concentrations for TV but not G2+. Results were robust to sensitivity analyses. Conclusions: Findings support an association of higher peripubertal serum dioxin TEQs and concentrations with later male pubertal onset reflected in delayed testicular maturation. PMID:21527364

  11. ON THE PROCESS OF SUMMER MONSOON ONSET OVER EAST ASIA

    Institute of Scientific and Technical Information of China (English)

    陈隆勋; 李薇; 赵平; 陶诗言

    2001-01-01

    Using daily observational rainfall data covered 194 stations of China from 1961 to 1995 and NCEP model analyzed pentad precipitation data of global grid point from 1979 to 1997, the distribution of onset date of rainy season over Asian area from spring to summer is studied in this paper. The analyzed results show that there exist two stages of rainy season onset over East Asian region from spring to summer rainy season onset accompanying subtropical monsoon and tropical monsoon respectively. The former rain belt is mainly formed by the convergence of cold air and the recurved southwesterly flow from western part of subtropical high and westerly flow from the so-called western trough of subtropical region occurring during winter to spring over South Asia. The latter is formed in the process of subtropical monsoon rain belt over inshore regions of South China Sea originally coming from south of Changjiang (Yangtze) River Basin advancing with northward shift of subtropical high after the onset of tropical monsoon over South China Sea. The pre-flood rainy season over South China region then came into mature period and the second peak of rainfall appeared. Meiyu, the rainy season over Changjiang-Huaihe River Basin and North China then formed consequently. The process of summer tropical monsoon onset over South China Sea in 1998 is also discussed in this paper. It indicated that the monsoon during summer tropical monsoon onset over South China Sea is the result of the westerly flow over middle part of South China Sea,which is from the new generated cyclone formed in north subtropical high entering into South China Sea, converged with the tropical southwesterly flow recurved by the intensified cross-equatorial flow.

  12. Markers of neurodevelopmental impairments in early-onset psychosis

    Directory of Open Access Journals (Sweden)

    Petruzzelli MG

    2015-07-01

    Full Text Available Maria Giuseppina Petruzzelli,1 Lucia Margari,1 Francesco Craig,1 Maria Gloria Campa,1 Domenico Martinelli,2 Adriana Pastore,3 Marta Simone,1 Francesco Margari3 1Child and Adolescence Neuropsychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University “Aldo Moro” of Bari, 2Department of Medical and Surgical Sciences; University of Foggia, Foggia, 3Psychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organ, University “Aldo Moro” of Bari, Bari, Italy Background: The aim of this study was to assess the association between the clinical and neurobiological markers of neurodevelopmental impairments and early-onset schizophrenia spectrum psychosis. Methods: A sample of 36 patients with early-onset schizophrenia spectrum psychosis was compared to a control sample of 36 patients with migraine. We assessed early childhood neurodevelopmental milestones using a modified version of the General Developmental Scale, general intellectual ability using the Wechsler Intelligence Scale for Children–Revised or Leiter International Performance Scale–Revised for patients with speech and language abnormalities, and neurological soft signs with specific regard to subtle motor impairment. Results: Subjects with early-onset psychosis had a higher rate of impaired social development (P=0.001, learning difficulties (P=0.04, enuresis (P=0.0008, a lower intelligence quotient (P<0.001, and subtle motor impairments (P=0.005 than control subjects. Conclusion: We suggest that neurodevelopment in early-onset psychosis is characterized by a global impairment of functional and adaptive skills that manifests from early childhood, rather than a delay or limitation in language and motor development. The current evidence is based on a small sample and should be investigated in larger samples in future research. Keywords: early-onset psychosis, early-onset schizophrenia, neurodevelopment, social cognition

  13. First onset of suicidal thoughts and behaviours in college.

    Science.gov (United States)

    Mortier, P; Demyttenaere, K; Auerbach, R P; Cuijpers, P; Green, J G; Kiekens, G; Kessler, R C; Nock, M K; Zaslavsky, A M; Bruffaerts, R

    2017-01-01

    College students are a worldwide increasing group of young people at risk for suicidal thoughts and behaviours (STB). However, no previous studies have prospectively investigated the first onset of STB during the college period. Using longitudinal data from the Leuven College Surveys, 2337 (response rate [RR]=66.6%) incoming freshmen provided baseline data on STB, parental psychopathology, childhood-adolescent traumatic experiences, 12-month risk for mental disorders, and 12-month stressful experiences. A total of 1253 baseline respondents provided data on 12-month STB in a two-year annual follow-up survey (conditional RR=53.6%; college dropout adjusted conditional RR=70.2%). One-year incidence of first-onset STB was 4.8-6.4%. Effect sizes of the included risk factors varied considerably whether viewed from individual-level (ORs=1.91-17.58) or population-level perspective (PARPs=3.4-34.3%). Dating violence prior to the age of 17, physical abuse prior to the age of 17, and 12-month betrayal by someone else than the partner were most strong predictors for first-onset suicidal ideation (ORs=4.23-12.25; PARPs=8.7-27.1%) and plans (ORs=6.57-17.58; PARPs=15.2-34.3%). Multivariate prediction (AUC=0.84-0.91) revealed that 50.7-65.7% of first-onset STB cases were concentrated in the 10% at highest predicted risk. As this is a first investigation of STB onset in college, future studies should use validation samples to test the accuracy of our multivariate prediction model. The first onset of STB in college appears to be higher than in the general population. Screening at college entrance is a promising strategy to identify those students at highest prospective risk, enabling the cost-efficient clinical assessment of young adults in college. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. Risk of new-onset diabetes associated with statin use

    Directory of Open Access Journals (Sweden)

    Robert D Beckett

    2015-09-01

    Full Text Available Objective: To identify and assess studies investigating the association between statins and new-onset diabetes and determine the clinical significance of this risk. Data sources: A MEDLINE (1977–April 2015, Google Scholar (1997–April 2015, and International Pharmaceutical Abstracts (1977–April 2015 search was performed using the search terms hydroxymethylglutaryl-CoA reductase inhibitors, hydroxymethylglutaryl-CoA reductase inhibitors/adverse effects, statins, adverse effects, diabetes mellitus, diabetes mellitus/etiology, and drug-induced. Citations of identified articles and clinical practice guidelines were also reviewed. Study selection and data extraction: Articles describing results from original investigations or meta-analyses specifically designed to assess the association between statins and new-onset diabetes and published in English were included. Data synthesis: A total of 13 cohort studies and seven meta-analyses were included. In all, 11 were retrospective cohort studies and reported some degree of increased risk of new-onset diabetes associated with statins. The two prospective cohort studies differed. One identified increased risk of new-onset diabetes, but the other did not. Increased risk was not identified when any statin was compared to placebo alone, individual statins were compared, or in the single meta-analysis that included observational studies. Overall, the meta-analyses suggest that statin therapy is associated with an increased risk of new-onset diabetes when compared to placebo or active control, and when intensive therapy is compared to moderate therapy. Conclusion: Statins have been associated with a small, but statistically significant risk of new-onset diabetes. Patients with risk factors for developing diabetes mellitus may be at higher risk. This risk is likely outweighed by the benefits of reducing cardiovascular risk.

  15. Adult-onset idiopathic chondrolysis of the hip.

    Science.gov (United States)

    Yapp, Liam Z; McClymont, Liusaidh; Beggs, Ian; Gaston, Paul; Salter, Donald M

    2017-05-01

    We report the case of a 23-year-old man diagnosed with adult-onset idiopathic chondrolysis of the hip. Chondrolysis of the hip is a disorder most frequently seen in children who have suffered with slipped capital femoral epiphyses. Idiopathic chondrolysis of the hip is extremely rare and to our knowledge, its onset has never been documented in adults aged over 20. With reference to the available medical literature, we summarise the current clinical management of this unusual but important cause of young adult hip pain.

  16. [Acute and transient psychotic disorder at the onset of schizophrenia].

    Science.gov (United States)

    Le Galudec, Mickaël; Sauder, Charlotte; Stephan, Florian; Robin, Gaëlle; Walter, Michel

    2014-01-01

    Although the mode of onset of schizophrenia can be acute, it is important to remember that the disorder rarely starts as a "clap of thunder in a quiet sky", and that it is more often gradual and insidious, with negative and affective symptoms. Acute and transient psychotic disorder, on the other hand, is a short delusional episode forming suddenly and lasting a few days, sometimes a few hours. Schizophrenic evolution forms only part of the possible evolutions. It is therefore necessary to disassociate acute and transient psychotic disorder from schizophrenic disorders, which gives a wrong representation of the onset of schizophrenia.

  17. Late Onset Anorexia Nervosa Treated With Olanzapine: A Case Report

    Directory of Open Access Journals (Sweden)

    Paolo Santonastaso

    2008-12-01

    Full Text Available A case of late onset anorexia nervosa (AN treated with olanzapine is reported. The patient suffered AN onset at the age of 53 and was brought to our attention four years later in a very poor state of health due to extreme starvation and laxative abuse. She presented severe obsessions about food, a very disturbed body image, and “ascetic” rituals of self-punishment. There was no improvement of her symptoms with cognitive behavioural therapy, antidepressant drugs and inpatient nutritional therapy. After the prescription of olanzapine, the patient was more cooperative and able to maintain a stable acceptable weight, although her psychiatric and anorexic symptoms only improved partially.

  18. Status cataplecticus as initial presentation of late onset narcolepsy.

    Science.gov (United States)

    Panda, Samhita

    2014-02-15

    Narcolepsy, one of the important causes of hypersomnia, is an under diagnosed sleep disorder. It has a bimodal age of onset around 15 and 35 years. It is characterized by the tetrad of excessive daytime sleepiness, cataplexy, hypnagogic/ hypnopompic hallucinations, and sleep paralysis. Cataplexy is by far the most predictive feature of narcolepsy. Status cataplecticus is the occurrence of cataplexy repeatedly for hours or days, a rare presentation of narcolepsy. This report describes an elderly gentleman with late onset narcolepsy in the sixth decade of life presenting with initial and chief symptom of status cataplecticus.

  19. Summer rains in northeast Bangladesh: Onset and triggering mechanisms

    OpenAIRE

    Ssemujju, Musa

    2016-01-01

    The aim of this study is to shed light on convective triggering mechanisms around the onset of the summer rains in Northeast Bangladesh. We want to understand this rainfall since it has a large impact on the local climate, and because 25.3% of the annual rainfall in Northeast Bangladesh falls in Bangladesh summer (March - May). To do this, we first identified the onset of the summer rains for each year using Sylhet station rainfall data with a 11 mm/day pentad rainfall mean threshold and a 6-...

  20. Delayed-onset postoperative endophthalmitis secondary to Exophiala.

    Science.gov (United States)

    Quintero-Estades, Jose Alberto; Walter, Scott; Valenzuela, Felipe; Amescua, Guillermo

    2015-02-17

    Exophiala is a genus of slow-growing, melanin-producing, saprophytic fungi most commonly found in soil, faeces and decaying plant matter. It is an unusual fungal pathogen capable of causing a variety of ophthalmic manifestations, including keratitis, scleritis and endophthalmitis. In this report, we present a rare case of delayed-onset postoperative endophthalmitis confined to the anterior segment, secondary to Exophiala species. Previous reported cases of delayed-onset postoperative endophthalmitis have been treated medically, with suboptimal outcomes. Our experience supports the use of anterior segment surgery to clear the nidus of disease combined with intravitreal voriconazole to prevent recurrence of the infection.

  1. [Clinical guidelines for infantile-onset Pompe disease].

    Science.gov (United States)

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  2. The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature.

    Science.gov (United States)

    Muscari, Isabella; Iacoponi, Francesca; Cantarini, Luca; Lucherini, Orso Maria; Simonini, Gabriele; Brizi, Maria Giuseppina; Vitale, Antonio; Frediani, Bruno; Cimaz, Rolando; Galeazzi, Mauro

    2012-11-01

    Hereditary periodic fever syndromes (HPFSs) are a group of inherited disorders of the innate immune system caused by mutations of genes involved in the regulation or activation of the inflammatory response, which belong to the category of autoinflammatory disorders. Most HPFs typically have an onset in pediatric age, while a limited number of patients experience disease onset during adulthood. The relative rarity and lack of information on adult-onset autoinflammatory diseases make it likely that genetic testing is often inconclusive. Recently, we have identified a set of variables related to the probability of detecting gene mutations in MEFV, responsible for familial Mediterranean fever, and TNFRSF1A, responsible for tumor necrosis factor receptor-associated periodic syndrome. In addition, we have proposed a diagnostic score for identifying those patients at high risk of carrying mutations in these genes. However, before the score can be recommended for application, further evaluation by means of longitudinal studies on different ethnicities and different populations deriving from other geographical areas is needed in order to definitively verify both its sensitivity and its specificity. The present manuscript offers our suggestions on how to establish a differential diagnosis for adult-onset HPFs, as well as a review of the literature, and we also provide a score revision available online. Copyright © 2012 Elsevier B.V. All rights reserved.

  3. Onset of meiosis in the chicken embryo; evidence of a role for retinoic acid

    Directory of Open Access Journals (Sweden)

    Koopman Peter

    2008-09-01

    Full Text Available Abstract Background Meiosis in higher vertebrates shows a dramatic sexual dimorphism: germ cells enter meiosis and arrest at prophase I during embryogenesis in females, whereas in males they enter mitotic arrest during embryogenesis and enter meiosis only after birth. Here we report the molecular analysis of meiosis onset in the chicken model and provide evidence for conserved regulation by retinoic acid. Results Meiosis in the chicken embryo is initiated late in embryogenesis (day 15.5, relative to gonadal sex differentiation (from day 6. Meiotic germ cells are first detectable only in female gonads from day 15.5, correlating with the expression of the meiosis marker, SCP3. Gonads isolated from day 10.5 female embryos and grown in serum-free medium could still initiate meiosis at day 16.5, suggesting that this process is controlled by an endogenous clock in the germ cells themselves, and/or that germ cells are already committed to meiosis at the time of explantation. Early commitment is supported by the analysis of chicken STRA8, a pre-meiotic marker shown to be essential for meiosis in mouse. Chicken STRA8 is expressed female-specifically from embryonic day 12.5, preceding morphological evidence of meiosis at day 15.5. Previous studies have shown that, in the mouse embryo, female-specific induction of STRA8 and meiosis are triggered by retinoic acid. A comprehensive analysis of genes regulating retinoic acid metabolism in chicken embryos reveals dynamic expression in the gonads. In particular, the retinoic acid-synthesising enzyme, RALDH2, is expressed in the left ovarian cortex at the time of STRA8 up-regulation, prior to meiosis. Conclusion This study presents the first molecular analysis of meiosis onset in an avian embryo. Although aspects of avian meiosis differ from that of mammals, a role for retinoic acid may be conserved.

  4. Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset.

    Science.gov (United States)

    Maeda, Meiko Hashimoto; Ohta, Hikari; Izutsu, Koji; Shimizu, Jun; Uesaka, Yoshikazu

    2015-05-01

    Sporadic late-onset nemaline myopathy (SLONM) is a rare intractable acquired myopathy characterized by progressive muscle weakness and atrophy, usually with middle to late adult onset. Autologous peripheral blood stem cell transplantation (auto-PBSCT) has been reported to be a promising treatment for SLONM. In this study we performed clinical characterization, muscle histopathological analysis, and muscle power monitoring after auto-PBSCT in a 27-year-old HIV-negative man with monoclonal gammopathy. He showed improved muscle strength after treatment with high-dose melphalan and auto-PBSCT. Considering the recent reports of successful treatment of SLONM, early and correct diagnosis of this condition in association with monoclonal gammopathy is important. SLONM should be added to the list of diseases to consider in the differential diagnosis of progressive muscle weakness with young adult onset. © 2014 Wiley Periodicals, Inc.

  5. Order of age at onset for substance use, substance use disorder, conduct disorder and psychiatric illness

    DEFF Research Database (Denmark)

    Guldager, Steen; Linneberg, Inger Holm; Hesse, Morten

    2012-01-01

    and social phobia. Of patients reporting an age at onset for SUD and conduct disorder, 84% reported that age at onset was earliest for conduct disorder. Of patients reporting an age at onset for both any non-substance related axis I disorder and any substance related disorder, age at onset was earliest...

  6. The role of the Indian monsoon onset in the West African monsoon onset: observations and AGCM nudged simulations

    Energy Technology Data Exchange (ETDEWEB)

    Flaounas, Emmanouil [LATMOS/IPSL, Universite Pierre et Marie Curie, Paris cedex 05 (France); Janicot, Serge [LOCEAN/IPSL, IRD, Universite Pierre et Marie Curie, Paris (France); Bastin, Sophie [LATMOS/IPSL, CNRS, Universite Pierre et Marie Curie, Paris (France); Roca, Remy [LMD/IPSL, CNRS, Universite Pierre et Marie Curie, Paris (France); Mohino, Elsa [LOCEAN/IPSL, CNRS, Universite Pierre et Marie Curie, Paris (France); Universidad de Sevilla, Sevilla (Spain)

    2012-03-15

    In spring the inland penetration of the West African Monsoon (WAM) is weak and the associated rainband is located over the Guinean coast. Then within a few days deep convection weakens considerably and the rainband reappears about 20 days after over the Sahel, where it remains until late September signalling the summer rainy season. Over the period 1989-2008 a teleconnection induced by the Indian monsoon onset is shown to have a significant impact on the WAM onset, by performing composite analyses on both observational data sets and atmospheric general circulation model simulations ensembles where the model is nudged to observations over the Indian monsoon sector. The initiation of convective activity over the Indian subcontinent north of 15 N at the time of the Indian monsoon onset results in a westward propagating Rossby wave establishing over North Africa 7-15 days after. A back-trajectory analysis shows that during this period, dry air originating from the westerly subtropical jet entrance is driven to subside and move southward over West Africa inhibiting convection there. At the same time the low-level pressure field over West Africa reinforces the moisture transport inland. After the passage of the wave, the dry air intrusions weaken drastically. Hence 20 days after the Indian monsoon onset, convection is released over the Sahel where thermodynamic conditions are more favourable. This scenario is very similar in the observations and in the nudged simulations, meaning that the Indian monsoon onset is instrumental in the WAM onset and its predictability at intraseasonal scale. (orig.)

  7. Prediction of melatonin efficacy by pretreatment dim light melatonin onset in children with idiopathic chronic sleep onset insomnia.

    Science.gov (United States)

    van der Heijden, Kristiaan B; Smits, Marcel G; van Someren, Eus J W; Boudewijn Gunning, W

    2005-06-01

    Research has shown efficacy of melatonin treatment to advance sleep-wake rhythms in insomnia. In healthy adults, direction and magnitude of the phase shift depends on the timing of administration relative to the phase position of the circadian system. Therefore, in the present study we investigated whether in children with chronic sleep onset insomnia (SOI) efficacy of melatonin treatment in the early evening could be predicted from dim light melatonin onset (DLMO), a phase marker of the circadian system. We combined data of two previously published double blind, randomized, placebo-controlled trials in 110 participants, aged 6-12 years. Sleep was actigraphically estimated, and saliva collected, at baseline and in the third week of a 4-week treatment period with 5 mg melatonin or placebo at 18:00 or 19:00 hours. Primary outcome measures were pre- to post-treatment changes in dim light melatonin onset (DeltaDLMO), sleep onset (DeltaSO), sleep latency (DeltaSL), and total sleep duration (DeltaTSD). Melatonin advanced DLMO with +1:12 h (P melatonin-treated group, but not in the placebo-treated group, pretreatment DLMO was significantly related to DeltaDLMO [F(1, 29) = 7.28, P = 0.012] and DeltaSO [F(1, 25) = 7.72, P = 0.010]. The time interval between treatment administration and pretreatment DLMO (INT) was only significantly related to DeltaSO [F(1,26) = 5.40, P = 0.028]. The results suggest that in children with SOI, the efficacy of early evening melatonin to advance sleep onset and endogenous melatonin onset increases the later the pretreatment DLMO is.

  8. Proteomic Analysis Reveals the Deregulation of Inflammation-Related Proteins in Acupuncture-Treated Rats with Asthma Onset

    Directory of Open Access Journals (Sweden)

    Yu-Dong Xu

    2012-01-01

    Full Text Available Although the beneficial effects of acupuncture in asthma treatment have been well documented, little is known regarding the biological basis of this treatment. Changes in the lung proteome of acupuncture-treated rats with asthma onset were comparatively analyzed using a two-dimensional gel electrophoresis (2DE and mass-spectrometry- (MS- based proteomic approach. Acupuncture on specific acupuncture points appeared to improve respiratory function and reduce the total number of leukocytes and eosinophils in bronchoalveolar lavage fluid in OVA-induced asthma onset. Image analysis of 2DE gels revealed 32 differentially expressed acupuncture-specific protein spots in asthma onset; 30 of which were successfully identified as 28 unique proteins using LC-MS/MS. Bioinformatic analyses indicated that these altered proteins are most likely involved in inflammation-related biological functions, and the functional associations of these proteins result in an inflammation signaling pathway. Acupuncture regulates the pathway at different levels by regulating several key nodal proteins, including downregulating of proinflammatory proteins (e.g., S100A8, RAGE, and S100A11 and upregulating of anti-inflammatory proteins (e.g., CC10, ANXA5, and sRAGE. These deregulated inflammation-related proteins may mediate, at least in part, the antiasthmatic effect of acupuncture. Further functional investigation of these acupuncture-specific effector proteins could identify new drug candidates for the prophylaxis and treatment of asthma.

  9. Proteomic Analysis Reveals the Deregulation of Inflammation-Related Proteins in Acupuncture-Treated Rats with Asthma Onset

    Science.gov (United States)

    Xu, Yu-Dong; Cui, Jian-Mei; Wang, Yu; Yin, Lei-Miao; Gao, Chang-Ke; Liu, Xiao-Yan; Wei, Ying; Liu, Yan-Yan; Jiang, Yong-Liang; Shan, Chun-Xiao; Yang, Yong-Qing

    2012-01-01

    Although the beneficial effects of acupuncture in asthma treatment have been well documented, little is known regarding the biological basis of this treatment. Changes in the lung proteome of acupuncture-treated rats with asthma onset were comparatively analyzed using a two-dimensional gel electrophoresis (2DE) and mass-spectrometry- (MS-) based proteomic approach. Acupuncture on specific acupuncture points appeared to improve respiratory function and reduce the total number of leukocytes and eosinophils in bronchoalveolar lavage fluid in OVA-induced asthma onset. Image analysis of 2DE gels revealed 32 differentially expressed acupuncture-specific protein spots in asthma onset; 30 of which were successfully identified as 28 unique proteins using LC-MS/MS. Bioinformatic analyses indicated that these altered proteins are most likely involved in inflammation-related biological functions, and the functional associations of these proteins result in an inflammation signaling pathway. Acupuncture regulates the pathway at different levels by regulating several key nodal proteins, including downregulating of proinflammatory proteins (e.g., S100A8, RAGE, and S100A11) and upregulating of anti-inflammatory proteins (e.g., CC10, ANXA5, and sRAGE). These deregulated inflammation-related proteins may mediate, at least in part, the antiasthmatic effect of acupuncture. Further functional investigation of these acupuncture-specific effector proteins could identify new drug candidates for the prophylaxis and treatment of asthma. PMID:23304218

  10. Childhood-Onset Essential Hypertension and the Family Structure.

    Science.gov (United States)

    Gupta-Malhotra, Monesha; Hashmi, Syed Shahrukh; Barratt, Michelle S; Milewicz, Dianna M; Shete, Sanjay

    2016-05-01

    The prevalence and effect of single-parent families in childhood-onset essential hypertension (EH) is unknown. Children with EH and age-, sex-, and ethnicity-matched controls were enrolled. Family structure data were obtained by in-person interview. A total of 148 families (76 hypertension probands, 72 control probands; median 14 years) were prospective-ly enrolled in the study. Single-parent status was seen in 42% of the families--with and without EH (38% vs 46%, P=.41; odds ratio, 0.7; 95% confidence interval, 0.4-1.4). After multivariable analysis, a statistically significant sociofamilial contributor to the development of childhood-onset EH was not identified. A significant number of single-parent families (42%), the majority with single mothers, were found in our pedigree study. Sociofamilial factors are known to contribute to the expression of adult-onset EH, but findings in our study suggest that they appear to contribute less in the expression of childhood-onset EH.

  11. A method for determining the onset year of intense browsing

    Science.gov (United States)

    Keigley, R.B.; Frisina, M.R.; Fager, C.

    2003-01-01

    A survey based on browsing related architectures indicated that browsing level had increased at the Mt. Haggin Wildlife Management Area. We describe a technique for determining the year in which the increase in browsing level occurred. The technique is based on the analysis of stems old enough to have experienced the early period of light browsing; the onset year of intense browsing was determined by using dendrochronology to date the formation of twig clusters produced by intense browsing. Stems from 20 Geyer willow (Salix geyeriana Anderss.) plants were analyzed from each of 6 study sites. Mean onset years at the 6 sites ranged from 1983.1 to 1988.4; the mean onset year for all 6 sites was 1985.4 ?? 0.5 SE (N = 120). The reconstructed history was used to evaluate the relationship between moose (Alces alces) number and browse trend. From 1976 to 2000, the winter trend census of moose increased from 7 to 56. The onset of intense browsing in 1985 occurred when 23 moose were counted.

  12. The pattern of cognitive symptoms predicts time to dementia onset.

    NARCIS (Netherlands)

    Sacuiu, S.; Gustafson, D.; Johansson, B.; Thorvaldsson, V.; Berg, S.; Sjogren, J.M.C.; Guo, X.; Ostling, S.; Skoog, I.

    2009-01-01

    BACKGROUND: Few studies have examined whether cognitive symptom patterns differ by age and length of time before dementia onset. Our objective was to investigate whether different patterns of cognitive symptoms at ages 70, 75, and 79 years predict short-term (< or =5 years) and long-term (>5 y

  13. Adolescent-onset substance use disorders predict young adult mortality

    Science.gov (United States)

    Clark, Duncan B.; Martin, Christopher S.; Cornelius, Jack R.

    2009-01-01

    This study determined whether adolescent-onset substance use disorders (SUDs) prospectively predicted early mortality. Among 870 adolescents, 21 young adulthood deaths were observed. Adolescent SUDs, as well as gender, ethnic group, hazardous substance use, and drug trafficking, predicted these deaths. Among African American males with SUDs, 23% died by age 25. PMID:18486875

  14. Neuro-Music Therapy for Recent-Onset Tinnitus

    Directory of Open Access Journals (Sweden)

    Miriam Grapp

    2013-05-01

    Full Text Available The aim of this pilot study was the evaluation of the neuro-music therapy approach as a new treatment option for patients with recent-onset tinnitus whose tinnitus symptoms were enduring after initial pharmacological treatment. In all, 15 patients with recent-onset tinnitus took part in our manualized short-term music-therapeutic treatment. Tinnitus severity and individual tinnitus distress were assessed by the German version of the tinnitus questionnaire (TQ and the Attention and Performance Self-Assessment Scale (APSA at three different measurement times: baseline (T0, start of treatment (T1, and end of treatment (T2. Score changes in TQ and APSA from start to end of treatment indicated significant improvements in tinnitus-related distress. According to the Jacobson and Truax reliable change index (RC, 73.3% of the patients showed a reliable reduction in individual TQ-score. The neuro-music therapy for recent-onset tinnitus according to the “Heidelberg Model” introduced in this pilot study seems to provide an effective treatment option for patients with recent-onset tinnitus.

  15. Evaluation of Analytical Modeling Functions for the Phonation Onset Process.

    Science.gov (United States)

    Petermann, Simon; Kniesburges, Stefan; Ziethe, Anke; Schützenberger, Anne; Döllinger, Michael

    2016-01-01

    The human voice originates from oscillations of the vocal folds in the larynx. The duration of the voice onset (VO), called the voice onset time (VOT), is currently under investigation as a clinical indicator for correct laryngeal functionality. Different analytical approaches for computing the VOT based on endoscopic imaging were compared to determine the most reliable method to quantify automatically the transient vocal fold oscillations during VO. Transnasal endoscopic imaging in combination with a high-speed camera (8000 fps) was applied to visualize the phonation onset process. Two different definitions of VO interval were investigated. Six analytical functions were tested that approximate the envelope of the filtered or unfiltered glottal area waveform (GAW) during phonation onset. A total of 126 recordings from nine healthy males and 210 recordings from 15 healthy females were evaluated. Three criteria were analyzed to determine the most appropriate computation approach: (1) reliability of the fit function for a correct approximation of VO; (2) consistency represented by the standard deviation of VOT; and (3) accuracy of the approximation of VO. The results suggest the computation of VOT by a fourth-order polynomial approximation in the interval between 32.2 and 67.8% of the saturation amplitude of the filtered GAW.

  16. [Association between unplanned pregnancy and adolescence onset asthma].

    Science.gov (United States)

    Vázquez-Nava, Francisco; Gil-Lara, Bertoldo; Cruz-Torres, Leoncio; Vázquez-Rodríguez, Carlos F; Vázquez-Rodríguez, Eliza M; Felizardo-Ávalos, Jorge; Llanes-Castillo, Arturo; Córdova-Fernández, José A

    2013-01-01

    The association between asthma and pregnancy has been documented previously. The relationship between unplanned pregnancy and onset asthma in adolescence has not been studied. To determine the association between unplanned pregnancy and adolescence onset asthma. A cross-sectional study was done gathering information about asthma, unplanned pregnancy, family atopy and active or passive smoking in 3,130 adolescents aged 13-19 years. Asthma diagnosis was established through a selfquestionnaire based on the International Study of Asthma and Allergy in Childhood. Odds ratios for asthma were determined using logistic regression model and chi-squared test. Mean age of the participants was 16.37 ± 1.93 years. The prevalence of active smoking was 16.1%, of passive smoking 40% and of family atopy 9.8%. From the pregnant adolescents (785), 59.5% reported had planned not to have a child before pregnancy. Prevalence of wheezing during the year prior to the study was 9.3% and of wheezing during the pregnancy 2%. The prevalence of adolescence onset asthma was 5.4%. The age of initiation of asthma in the adolescence was 14.75 ± 1.60 years. The analysis showed that unplanned pregnancy has a slight risk for the development of asthma during adolescence. (Crude OR=1.03; CI 95% 1.02-1.05; p=0.000). Unplanned pregnancy, family atopy, active smoking and smoking friends are associated with the onset-asthma in the adolescence.

  17. Childhood Psychopathology Predicts Adolescence-Onset Offending: A Longitudinal Study

    Science.gov (United States)

    Buck, Nicole; Verhulst, Frank; van Marle, Hjalmar; van der Ende, Jan

    2013-01-01

    Moffitt, Caspi, Harrington, and Milne (2002) found in a follow-up study that many of the supposedly adolescence-limited offenders had committed offenses past adolescence. This finding raises the question of whether adulthood starts later or whether there are two distinct delinquency types, adolescence limited and adolescence onset, each with its…

  18. Late-onset CMV disease following CMV prophylaxis.

    LENUS (Irish Health Repository)

    Donnelly, C

    2012-02-01

    BACKGROUND: Cytomegalovirus (CMV) is the most common opportunistic infection after solid-organ transplantation, increasing morbidity and mortality. Three months of oral valganciclovir have been shown to provide effective prophylaxis. Late-onset CMV disease, occurring after the discontinuation of prophylaxis, is now increasingly recognised. AIMS: To investigate the incidence and the time of detection of CMV infections in liver transplant recipients who received CMV prophylaxis. METHODS: Retrospective review of 64 high- and moderate-risk patients with 1 year of follow-up. RESULTS: The incidence of CMV infection was 12.5%, with 4.7% disease. All cases of symptomatic CMV disease were of late-onset. CONCLUSIONS: The incidence of CMV infections in this study was low compared with literature reports; however, the late-onset disease is an emerging problem. Detection of late-onset disease may be delayed because of less frequent clinic follow-up visits. Increased regular laboratory monitoring may allow earlier detection at the asymptomatic infection stage.

  19. Association between mental disorders and subsequent adult onset asthma

    NARCIS (Netherlands)

    Alonso, Jordi; de Jonge, Peter; Lim, Carmen C. W.; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Liu, Zhaorui; O'Neill, Siobhan; Stein, Dan J.; Viana, Maria Carmen; Al-Hamzawi, Ali Obaid; Angermeyer, Matthias C.; Borges, Guilherme; Ciutan, Marius; de Girolamo, Giovanni; Fiestas, Fabian; Maria Haro, Josep; Hu, Chiyi; Kessler, Ronald C.; Lepine, Jean Pierre; Levinson, Daphna; Nakamura, Yosikazu; Posada-Villa, Jose; Wojtyniak, Bogdan J.; Scott, Kate M.

    2014-01-01

    Background and objectives: Associations between asthma and anxiety and mood disorders are well established, but little is known about their temporal sequence. We examined associations between a wide range of DSM-IV mental disorders with adult onset of asthma and whether observed associations remain

  20. Childhood Onset Schizophrenia: High Rate of Visual Hallucinations

    Science.gov (United States)

    David, Christopher N.; Greenstein, Deanna; Clasen, Liv; Gochman, Pete; Miller, Rachel; Tossell, Julia W.; Mattai, Anand A.; Gogtay, Nitin; Rapoport, Judith L.

    2011-01-01

    Objective: To document high rates and clinical correlates of nonauditory hallucinations in childhood onset schizophrenia (COS). Method: Within a sample of 117 pediatric patients (mean age 13.6 years), diagnosed with COS, the presence of auditory, visual, somatic/tactile, and olfactory hallucinations was examined using the Scale for the Assessment…

  1. Seizure Onset Detection based on one sEMG channel

    DEFF Research Database (Denmark)

    Conradsen, Isa; Beniczky, Sandor; Hoppe, Karsten

    2011-01-01

    We present a new method to detect seizure onsets of tonic-clonic epileptic seizures based on surface electromyography (sEMG) data. The proposed method is generic and based on a single channel making it ideal for a small detection or monitoring device. The sEMG signal is high-pass filtered...

  2. The pattern of cognitive symptoms predicts time to dementia onset.

    NARCIS (Netherlands)

    Sacuiu, S.; Gustafson, D.; Johansson, B.; Thorvaldsson, V.; Berg, S.; Sjogren, J.M.C.; Guo, X.; Ostling, S.; Skoog, I.

    2009-01-01

    BACKGROUND: Few studies have examined whether cognitive symptom patterns differ by age and length of time before dementia onset. Our objective was to investigate whether different patterns of cognitive symptoms at ages 70, 75, and 79 years predict short-term (< or =5 years) and long-term (>5 y

  3. Childhood Psychopathology Predicts Adolescence-Onset Offending: A Longitudinal Study

    Science.gov (United States)

    Buck, Nicole; Verhulst, Frank; van Marle, Hjalmar; van der Ende, Jan

    2013-01-01

    Moffitt, Caspi, Harrington, and Milne (2002) found in a follow-up study that many of the supposedly adolescence-limited offenders had committed offenses past adolescence. This finding raises the question of whether adulthood starts later or whether there are two distinct delinquency types, adolescence limited and adolescence onset, each with its…

  4. Emotional Modulation of Cognition in Recent Onset Schizophrenia

    NARCIS (Netherlands)

    S. Dieleman (Sieds)

    2014-01-01

    markdownabstract__Abstract__ The current thesis describes a number of important findings on the interaction between emotion and cognition in male recent onset schizophrenia patients. In healthy controls a general effect of emotional expressions on sustained attention is that it improves reaction ti

  5. Infantile onset diabetes mellitus in developing countries-India

    Institute of Scientific and Technical Information of China (English)

    Poovazhagi; Varadarajan

    2016-01-01

    Infantile onset diabetes mellitus(IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus(DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes(67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.

  6. Cannabis Decriminalization and the Age of Onset of Cannabis Use

    NARCIS (Netherlands)

    Cervený, J.; van Ours, J.C.; Chomynova, Pavla; Mravcik, Viktor

    2015-01-01

    This paper examines the effect of a change in drugs policy on the age of onset of cannabis use. We use 2012 survey data from the Czech Republic where in 2010 a law was introduced decriminalizing personal possession of small quantities of several illicit drugs, including cannabis. We estimate the

  7. Frequency and Etiology of ADHD in New Onset Epilepsy

    OpenAIRE

    2007-01-01

    The prevalence, complications and etiology of ADHD were determined in 75 children (age 8-18 years) with new/recent onset idiopathic epilepsy nd 62 healthy first-degree cousin controls, in a study at University of Wisconsin School of Medicine and Public Health, Madison, WI; and Rosalind Franklin University of Medicine and Science, North Chicago, IL.

  8. Frequency and Etiology of ADHD in New Onset Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-12-01

    Full Text Available The prevalence, complications and etiology of ADHD were determined in 75 children (age 8-18 years with new/recent onset idiopathic epilepsy nd 62 healthy first-degree cousin controls, in a study at University of Wisconsin School of Medicine and Public Health, Madison, WI; and Rosalind Franklin University of Medicine and Science, North Chicago, IL.

  9. Late-Onset Startle Syndrome and Obsessive Compulsive Disorder

    Directory of Open Access Journals (Sweden)

    Alejandro Gonzalez

    1998-01-01

    Full Text Available A case of late onset sporadic startle syndrome in a patient with a right posterior fossa brain tumour is reported. The exaggerated startle response did not respond to treatment with clonazepam. In addition to anxiety and depression, the patient developed obsessive- compulsive symptoms which responded to behavioural therapy. The possible mechanisms for this unique pattern of symptoms are discussed.

  10. Visual Influences on Alignment to Voice Onset Time

    Science.gov (United States)

    Sanchez, Kauyumari; Miller, Rachel M.; Rosenblum, Lawrence D.

    2010-01-01

    Purpose: Speech shadowing experiments were conducted to test whether alignment (inadvertent imitation) to voice onset time (VOT) can be influenced by visual speech information. Method: Experiment 1 examined whether alignment would occur to auditory /pa/ syllables manipulated to have 3 different VOTs. Nineteen female participants were asked to…

  11. Does tinnitus distress depend on age of onset?

    Directory of Open Access Journals (Sweden)

    Winfried Schlee

    Full Text Available OBJECTIVES: Tinnitus is the perception of a sound in the absence of any physical source of it. About 5-15% of the population report hearing such a tinnitus and about 1-2% suffer from their tinnitus leading to anxiety, sleep disorders or depression. It is currently not completely understood why some people feel distressed by their tinnitus, while others don't. Several studies indicate that the amount of tinnitus distress is associated with many factors including comorbid anxiety, comorbid depression, personality, the psychosocial situation, the amount of the related hearing loss and the loudness of the tinnitus. Furthermore, theoretical considerations suggest an impact of the age at tinnitus onset influencing tinnitus distress. METHODS: Based on a sample of 755 normal hearing tinnitus patients we tested this assumption. All participants answered a questionnaire on the amount of tinnitus distress together with a large variety of clinical and demographic data. RESULTS: Patients with an earlier onset of tinnitus suffer significantly less than patients with an onset later in life. Furthermore, patients with a later onset of tinnitus describe their course of tinnitus distress as more abrupt and distressing right from the beginning. CONCLUSION: We argue that a decline of compensatory brain plasticity in older age accounts for this age-dependent tinnitus decompensation.

  12. Timing attention : Cuing target onset interval attenuates the attentional blink

    NARCIS (Netherlands)

    Martens, S; Johnson, A

    2005-01-01

    Three experiments tested whether the attentional blink (AB; a deficit in reporting the second of two targets when it occurs 200-500 msec after the first) can be attenuated by providing information about the target onset asynchrony (TOA) of the second target relative to the first. Blocking the TOA di

  13. Late-onset myasthenia not on the increase

    DEFF Research Database (Denmark)

    Pedersen, E G; Hallas, Jesper; Hansen, K

    2013-01-01

    BACKGROUND: An increase in late-onset myasthenia gravis (MG) has been reported. There are few large population-based studies over longer periods of time reflecting recent developments in MG incidence. METHODS: We identified a nationwide cohort of patients with incident myasthenia in Denmark in 1996...

  14. Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues

    Science.gov (United States)

    Danner, Stephanie; Fristad, Mary A.; Arnold, L. Eugene; Youngstrom, Eric A.; Birmaher, Boris; Horwitz, Sarah M.; Demeter, Christine; Findling, Robert L.; Kowatch, Robert A.

    2009-01-01

    Since the mid 1990s, early-onset bipolar spectrum disorders (BPSDs) have received increased attention in both the popular press and scholarly press. Rates of diagnosis of BPSD in children and adolescents have increased in inpatient, outpatient, and primary care settings. BPSDs remain difficult to diagnose, particularly in youth. The current…

  15. Voice Onset Time in Indian English-Accented Speech

    Science.gov (United States)

    Awan, Shaheen N.; Stine, Carolyn L

    2011-01-01

    The purpose of this study was to determine possible differences in voice onset time (VOT) between speakers of standard American English (AE) and Indian English (IE) in a continuous speech context. The participants were 20 AE speakers, who were native to the Northeastern Pennsylvania region, and 20 IE speakers from the Indian subcontinent who had…

  16. Transient cortical excitation at the onset of visual fixation.

    Science.gov (United States)

    Rajkai, Csaba; Lakatos, Peter; Chen, Chi-Ming; Pincze, Zsuzsa; Karmos, Gyorgy; Schroeder, Charles E

    2008-01-01

    Primates actively examine the visual world by rapidly shifting gaze (fixation) over the elements in a scene. Despite this fact, we typically study vision by presenting stimuli with gaze held constant. To better understand the dynamics of natural vision, we examined how the onset of visual fixation affects ongoing neuronal activity in the absence of visual stimulation. We used multiunit activity and current source density measurements to index neuronal firing patterns and underlying synaptic processes in macaque V1. Initial averaging of neural activity synchronized to the onset of fixation suggested that a brief period of cortical excitation follows each fixation. Subsequent single-trial analyses revealed that 1) neuronal oscillation phase transits from random to a highly organized state just after the fixation onset, 2) this phase concentration is accompanied by increased spectral power in several frequency bands, and 3) visual response amplitude is enhanced at the specific oscillatory phase associated with fixation. We hypothesize that nonvisual inputs are used by the brain to increase cortical excitability at fixation onset, thus "priming" the system for new visual inputs generated at fixation. Despite remaining mechanistic questions, it appears that analysis of fixation-related responses may be useful in studying natural vision.

  17. Sex differences in new-onset heart failure

    NARCIS (Netherlands)

    Meyer, Sven; Brouwers, Frank P.; Voors, Adriaan A.; Hillege, Hans L.; de Boer, Rudolf A.; Gansevoort, Ron T.; van der Harst, Pim; Rienstra, Michiel; van Gelder, Isabelle C.; van Veldhuisen, Dirk J.; van Gilst, Wiek H.; van der Meer, Peter

    2015-01-01

    Sex differences in patients with established heart failure have been well described, but much less is known in the development of heart failure. We studied sex-specific incidence and risk of new-onset heart failure in 8592 subjects (mean age 49.2 +/- A 12.7 years; 50.1 % women) of the Prevention of

  18. The pattern of cognitive symptoms predicts time to dementia onset.

    NARCIS (Netherlands)

    Sacuiu, S.; Gustafson, D.; Johansson, B.; Thorvaldsson, V.; Berg, S.; Sjogren, J.M.C.; Guo, X.; Ostling, S.; Skoog, I.

    2009-01-01

    BACKGROUND: Few studies have examined whether cognitive symptom patterns differ by age and length of time before dementia onset. Our objective was to investigate whether different patterns of cognitive symptoms at ages 70, 75, and 79 years predict short-term (< or =5 years) and long-term (>5

  19. Intraspinal anomalies in early-onset idiopathic scoliosis.

    Science.gov (United States)

    Pereira, E A C; Oxenham, M; Lam, K S

    2017-06-01

    In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

  20. Mortality Risks in New-Onset Childhood Epilepsy

    NARCIS (Netherlands)

    Berg, Anne T.; Nickels, Katherine; Wirrell, Elaine C.; Geerts, Ada T.; Callenbach, Petra M. C.; Arts, Willem F.; Rios, Christina; Camfield, Peter R.; Camfield, Carol S.

    OBJECTIVES: Estimate the causes and risk of death, specifically seizure related, in children followed from onset of epilepsy and to contrast the risk of seizure-related death with other common causes of death in the population. METHODS: Mortality experiences from 4 pediatric cohorts of newly

  1. Recommendations for the Avoidance of Delayed-Onset Muscle Soreness.

    Science.gov (United States)

    Szymanski, David J.

    2001-01-01

    Describes the possible causes of delayed-onset muscle soreness (DOMS), which include buildup of lactic acid in muscle, increased intracellular calcium concentration, increased intramuscular inflammation, and muscle fiber and connective tissue damage. Proposed methods to reduce DOMS include warming up before exercise and performing repeated bouts…

  2. Effects of delayed-onset muscle soreness on masticatory function

    NARCIS (Netherlands)

    Yoshida, E.; Lobbezoo, F.; Fueki, K.; Naeije, M.

    2012-01-01

    The aim was to clarify the effects of experimentally provoked delayed-onset muscle soreness (DOMS) in the jaw-closing muscles on subjective and objective measures of masticatory function. Twenty-one dentate female subjects, without pain-related signs and symptoms of temporomandibular disorders, part

  3. Early-Onset Psychosis in Youth with Intellectual Disability

    Science.gov (United States)

    Friedlander, R. I.; Donnelly, T.

    2004-01-01

    Accurate diagnosis of psychotic disorders may be very difficult in youth with intellectual disabilities. The authors reviewed the assessment, treatment and follow-up of 21 youths with ID referred because of early onset of psychotic symptoms. Just over one half of the patients had a diagnosis of schizophrenia or schizo-affective disorder. One third…

  4. Exploring Genetic Factors Involved in Huntington Disease Age of Onset

    DEFF Research Database (Denmark)

    Valcárcel-Ocete, Leire; Alkorta-Aranburu, Gorka; Iriondo, Mikel;

    2015-01-01

    Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of ...

  5. Infantile onset diabetes mellitus in developing countries - India.

    Science.gov (United States)

    Varadarajan, Poovazhagi

    2016-03-25

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.

  6. Late-Onset Hearing Loss: Strategies for Effective Counseling.

    Science.gov (United States)

    Smith, S. Mae; Kampfe, Charlene M.

    1999-01-01

    Late-onset hearing loss is one of the major chronic conditions experienced by older individuals. The term "presbycusis" is typically used when describing this condition. Presbycusis refers to many degenerative changes that affect older people's hearing. This article provides practical suggestions for working with persons with this…

  7. Mortality Risks in New-Onset Childhood Epilepsy

    NARCIS (Netherlands)

    Berg, Anne T.; Nickels, Katherine; Wirrell, Elaine C.; Geerts, Ada T.; Callenbach, Petra M. C.; Arts, Willem F.; Rios, Christina; Camfield, Peter R.; Camfield, Carol S.

    2013-01-01

    OBJECTIVES: Estimate the causes and risk of death, specifically seizure related, in children followed from onset of epilepsy and to contrast the risk of seizure-related death with other common causes of death in the population. METHODS: Mortality experiences from 4 pediatric cohorts of newly diagnos

  8. Prevalence of chronic diseases at the onset of inflammatory arthritis.

    NARCIS (Netherlands)

    Ursum, J.; Korevaar, J.C.; Twisk, J.W.R.; Peters, M.J.L.; Schellevis, F.G.; Nurmohamed, M.T.; Nielen, M.M.J.

    2012-01-01

    Background: To explore the prevalence of chronic diseases at the onset of inflammatory arthritis (IA) in the general practice and compare this to a group of control patients without IA. Methods: In this nested-case-control study, data were used from the Netherlands Information Network of eneral Pra

  9. Dementia with impaired glucose metabolism in late onset metachromatic leukodystrophy

    DEFF Research Database (Denmark)

    Johannsen, P.; Ehlers, L.; Hansen, Hans Jacob

    2001-01-01

    An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction...

  10. Childhood onset MS and MS during Pregnancy Rinze Frederik

    NARCIS (Netherlands)

    R.F. Neuteboom (Rinze)

    2012-01-01

    textabstractChapter 1, the introduction, summarizes current knowledge regarding two special and different situations in multiple sclerosis (MS): Childhood onset MS and MS during pregnancy. Chapter 2 describes the clinical (chapter 2.1-2.3) and biological studies (chapter 2.4-2.6) on pregnancy and M

  11. Cannabis Decriminalization and the Age of Onset of Cannabis Use

    NARCIS (Netherlands)

    Cervený, J.; van Ours, J.C.; Chomynova, Pavla; Mravcik, Viktor

    2015-01-01

    This paper examines the effect of a change in drugs policy on the age of onset of cannabis use. We use 2012 survey data from the Czech Republic where in 2010 a law was introduced decriminalizing personal possession of small quantities of several illicit drugs, including cannabis. We estimate the eff

  12. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    Science.gov (United States)

    2015-04-01

    a potential modulator of Abeta toxicity), and NOTCH4 (a presenilin pathway gene). Exome chip results identified variants in MICA encoding the HLA-A...and 2+ Non-white Hispanic families, including the AD-relevant HLA-A (associated with earlier AD age-at-onset), CHST15 (a potential modulator or Abeta

  13. Waveform descriptor for pulse onset detection of intracranial pressure signal.

    Science.gov (United States)

    Yang, Li; Zhao, Mingxi; Peng, Chenglin; Hu, Xiao; Feng, Hua; Ji, Zhong

    2012-03-01

    We present an algorithm to identify the onset of intracranial pressure (ICP) pulses. The algorithm creates a waveform descriptor to extract the feature of each local minimum of the waveform and then identifies the onset by comparing the feature with a customized template. The waveform descriptor is derived by transforming the vectors connecting a given point and the local waveform samples around it into log-polar coordinates and ranking them into uniform bins. Using an ICP dataset consisting of 40933 normal beats and 306 segments of artifacts and noise, we investigated the performance of our algorithm (waveform descriptor, WD), global minimum within a sliding window (GM) and two other algorithms originally proposed for arterial blood pressure (ABP) signal (slope sum function, SSF and pulse waveform delineator, PUD). As a result, all the four algorithms showed good performance and WD showed overall better one. At a tolerance level of 30 ms (i.e., the predicted onset and ground truth were considered as correctly matched if the distance between the two was equal or less than 30 ms), WD achieved a sensitivity of 0.9723 and PPV of 0.9475, GM achieved a sensitivity of 0.9226 and PPV of 0.8968, PUD achieved a sensitivity of 0.9599 and PPV of 0.9327 and SSF, a sensitivity of 0.9720 and PPV of 0.9136. The evaluation indicates that the algorithms are effective for identifying the onset of ICP pulses.

  14. Pseudoxanthoma elasticum: Description of a late onset case

    Directory of Open Access Journals (Sweden)

    Baglieri Francesco

    2010-01-01

    Full Text Available Pseudoxanthoma elasticum (PXE is a genetic multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, retina and cardiovascular system, and a phenotypic spectrum highly variable.This article presents the case of a 46-year-old male patient with sporadic late-onset PXE, without severe systemic complications.

  15. Neuromyelitis optica with onset in childhood and adolescence.

    Science.gov (United States)

    Fragoso, Yara Dadalti; Ferreira, Maria L B; Oliveira, Enedina M L; Domingues, Renan B; Ribeiro, Taysa A G J; Brooks, Joseph B B; Claudino, Rinaldo; Netto, Jussara M K; Gomes, Sidney; Adoni, Tarso; Carneiro, Denise S D; Fonseca, Daiana R P; Fragomeni, Manuela O; Oliveira, Francisco T M; Oliveira, Celso L S; Saldanha, Patricia C O; Souza, Jorge M B

    2014-01-01

    Neuromyelitis optica with onset before the age of 18 years is a relatively rare, yet potentially devastating condition. The objective of the present study was to contribute to the study of early-onset neuromyelitis optica with a case series. Data were collected from medical records of Brazilian neurologists caring for patients with neuromyelitis optica occurring in childhood and adolescence. Twenty-nine patients with neuromyelitis optica occurring before the age of 18 years and fulfilling the diagnostic criteria were identified. The average age at disease onset was 13 years and the patients had had an average disease duration of 6 years. The expanded disability scale score at the latest consultation was, on average, 4.7, and one patient had died from the disease. The 29 patients had had an average 4.5 relapses during the disease, accounting for 0.75 relapses per year, irrespective of the medication used. All patients were using one or more of the following medications: azathioprine, prednisone, immunoglobulin, and glatiramer acetate. Neuromyelitis optica with onset in childhood and adolescence is a poorly understood condition that is often disabling and difficult to manage. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. An Odontoma Found in the Wake of Maxillary Sinusitis Onset

    OpenAIRE

    2013-01-01

    Sinusitis of dental origin is a relatively frequent entity, and odontomas are considered to be the most common odontogenic tumors of the oral cavity. Eruption and infection of odontomas are extremely rare. Here, we report an interesting case where odontoma was found in the wake of the maxillary sinusitis onset.

  17. Childhood onset MS and MS during Pregnancy Rinze Frederik

    NARCIS (Netherlands)

    R.F. Neuteboom (Rinze)

    2012-01-01

    textabstractChapter 1, the introduction, summarizes current knowledge regarding two special and different situations in multiple sclerosis (MS): Childhood onset MS and MS during pregnancy. Chapter 2 describes the clinical (chapter 2.1-2.3) and biological studies (chapter 2.4-2.6) on pregnancy and M

  18. Cannabis and other variables affecting age at onset in a ...

    African Journals Online (AJOL)

    Adele

    rate after alcohol.1 The predominance of cannabis abuse in. South Africa is also .... and there was a slightly lower percentage of cannabis users with a single episode of ..... triggers the onset of a psychosis with a poor prognosis. These findings ...

  19. Children's Acquisition of English Onset and Coda /l/: Articulatory Evidence

    Science.gov (United States)

    Lin, Susan; Demuth, Katherine

    2015-01-01

    Purpose: The goal of this study was to better understand how and when onset /l/ ("leap") and coda /l/ ("peel") are acquired by children by examining both the articulations involved and adults' perceptions of the produced segments. Method: Twenty-five typically developing Australian English-speaking children aged 3;0…

  20. Evaluation of Analytical Modeling Functions for the Phonation Onset Process

    Directory of Open Access Journals (Sweden)

    Simon Petermann

    2016-01-01

    Full Text Available The human voice originates from oscillations of the vocal folds in the larynx. The duration of the voice onset (VO, called the voice onset time (VOT, is currently under investigation as a clinical indicator for correct laryngeal functionality. Different analytical approaches for computing the VOT based on endoscopic imaging were compared to determine the most reliable method to quantify automatically the transient vocal fold oscillations during VO. Transnasal endoscopic imaging in combination with a high-speed camera (8000 fps was applied to visualize the phonation onset process. Two different definitions of VO interval were investigated. Six analytical functions were tested that approximate the envelope of the filtered or unfiltered glottal area waveform (GAW during phonation onset. A total of 126 recordings from nine healthy males and 210 recordings from 15 healthy females were evaluated. Three criteria were analyzed to determine the most appropriate computation approach: (1 reliability of the fit function for a correct approximation of VO; (2 consistency represented by the standard deviation of VOT; and (3 accuracy of the approximation of VO. The results suggest the computation of VOT by a fourth-order polynomial approximation in the interval between 32.2 and 67.8% of the saturation amplitude of the filtered GAW.

  1. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

    Science.gov (United States)

    ... called sarcomeres . Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most ... CMD Salih congenital muscular dystrophy Salih myopathy titinopathy & early-onset myopathy with ...

  2. Surface Electromyographic Onset Detection Based On Statistics and Information Content

    Science.gov (United States)

    López, Natalia M.; Orosco, Eugenio; di Sciascio, Fernando

    2011-12-01

    The correct detection of the onset of muscular contraction is a diagnostic tool to neuromuscular diseases and an action trigger to control myoelectric devices. In this work, entropy and information content concepts were applied in algorithmic methods to automatic detection in surface electromyographic signals.

  3. Evaluation of the Onset of Flashover in Room Fire Experiments

    DEFF Research Database (Denmark)

    Poulsen, Annemarie; Jomaas, Grunde; Bwalya, Alex

    2013-01-01

    Two series of full scale room fire tests comprising 16 experiments are used for a study of the onset of flashover. The fire loads were varied and represented seven different commercial applications and two non-combustible linings with significantly different thermal inertia were used. The test re...... by flammability parameters making wood/celluloses less sensitive to thermal feedback....

  4. Voice Onset Time Production in Speakers with Alzheimer's Disease

    Science.gov (United States)

    Baker, Julie; Ryalls, Jack; Brice, Alejandro; Whiteside, Janet

    2007-01-01

    In the present study, voice onset time (VOT) measurements were compared between a group of individuals with moderate Alzheimer's disease (AD) and a group of healthy age- and gender-matched peers. Participants read a list of consonant-vowel-consonant (CVC) words, which included the six stop consonants. The VOT measurements were made from…

  5. Occurrence of delayed-onset post-traumatic stress disorder

    DEFF Research Database (Denmark)

    Utzon-Frank, Nicolai; Breinegaard, Nina; Bertelsen, Mette

    2014-01-01

    Post-traumatic stress disorder (PTSD) develops according to consensus criteria within the first 1-6 months after a horrifying traumatic event, but it is alleged that PTSD may develop later. The objective was to review the evidence addressing occurrence of PTSD with onset >6 months after a traumatic...

  6. Cardiac asystole associated with seizures of right hemispheric onset

    Directory of Open Access Journals (Sweden)

    Jennifer Chu

    2014-01-01

    Full Text Available Ictal asystole is frequently underrecognized despite being a potentially lethal condition. We report two cases of ictal asystole with right hemispheric onset. These cases are unique since previous literature reports that seizures associated with bradyarrhythmias typically arise from left hemispheric foci. These cases further underscore the importance of clinical vigilance and the need of an enhanced diagnostic biomarker.

  7. Relationship of age of onset and family history in Parkinson disease.

    Science.gov (United States)

    Barrett, Matthew J; Hac, Nicholas E; Yan, Guofen; Harrison, Madaline B; Wooten, G Frederick

    2015-04-15

    The aim of this study was to determine whether age of onset of Parkinson disease (PD) is associated with differences in PD risk and PD age of onset in parents and siblings. Clinical and detailed family history data were available for 1,114 PD probands. Proband age of onset was not associated with differences in PD prevalence or PD age of onset in parents. Proband age of PD onset disease. © 2015 International Parkinson and Movement Disorder Society.

  8. Triggers for Preeclampsia Onset: a Case-Crossover Study.

    Science.gov (United States)

    Ford, Jane B; Schemann, Kathrin; Patterson, Jillian A; Morris, Jonathan; Herbert, Robert D; Roberts, Christine L

    2016-11-01

    Risk factors for preeclampsia are well established, whereas, the triggers associated with timing of preeclampsia onset are not. The aim of this study was to establish whether recent infection or other triggers were associated with timing of preeclampsia onset. We used a case-crossover design with preeclampsia cases serving as their own controls. Women with singleton pregnancies of ≥20 weeks gestation presenting at three hospitals were eligible for inclusion. Exposures to potential triggers were identified via guided questionnaire. Infective episodes included symptoms lasting >24 h. Preeclampsia was defined as hypertension (BP ≥140 mmHg and/or ≥90 mmHg) and proteinuria (protein/creatinine ratio ≥30 mg/mmol). Conditional logistic regression was used to compare the odds of exposure to potential triggers in the case windows (1-7 days preceding diagnosis of preeclampsia) and control windows (8-14 days prior to diagnosis); unadjusted odds ratios (ORs) are reported. Among 286 recruited women, 25 (8.7%) reported a new infection in the 7 days prior to preeclampsia onset and 21 (7.3%) in the 8-14 days prior. There was no significant association between onset of infection in the 7 days prior and preeclampsia diagnosis (OR 1.24, 95% CI 0.65, 2.34). Consumption of caffeine (OR 0.51, 95% CI 0.33, 0.77), spicy food (OR 0.49, 95% CI 0.30, 0.81), and alcohol (OR 0.26, 95% CI 0.10, 0.71) were strongly inversely associated with preeclampsia onset. Recent infection does not appear to trigger preeclampsia. Decreased consumption of caffeine, spicy food, and alcohol may be prodromal markers. Such behaviours may be early markers of imminent preeclampsia. © 2016 John Wiley & Sons Ltd.

  9. Observational evidence for an inside-out substorm onset scenario

    Energy Technology Data Exchange (ETDEWEB)

    Henderson, Michael G [Los Alamos National Laboratory

    2008-01-01

    We present observations which provide strong support for a substorm onset scenario in which a localized inner magnetospheric instability developed first and was later followed by the development of a Near Earth Neutral Line (NENL) farther down-tail. Specifically, we find that the onset began as a localized brightening of an intensified growth phase arc which developed as a periodic series of arc-aligned (i.e. azimuthally arrayed) bright spots. As the disturbance grew, it evolved into vortical structures that propagated poleward and eventually morphed into an east-west aligned arc system at the poleward edge of the auroral substorm bulge. The auroral intensification shows an exponential growth with an estimated e-folding time of around 188 seconds (linear growth rate, {gamma} of 5.33 x 10{sup -3} s{sup -1}). During the initial breakup, no obvious distortions of auroral forms to the north were observed. However, during the expansion phase, intensifications of the poleward boundary of the expanding bulge were observed together with the equatorward ejection of auroral streamers into the bulge. A strong particle injection was observed at geosynchronous orbit, but was delayed by several minutes relative to onsel. Ground magnetometer data also shows a two phase development of mid-latitude positive H-bays, with a quasi-linear increase in H between the onset and the injection. We conclude that this event provides strong evidence in favor of the so-called 'inside-out' substorm onset scenario in which the near Earth region activates first followed at a later time by the formation of a near-to-mid tail substorm X-line. The ballooning instability is discussed as a likely mechanism for the initial onset.

  10. Alcohol-Induced Developmental Origins of Adult-Onset Diseases.

    Science.gov (United States)

    Lunde, Emilie R; Washburn, Shannon E; Golding, Michael C; Bake, Shameena; Miranda, Rajesh C; Ramadoss, Jayanth

    2016-07-01

    Fetal alcohol exposure may impair growth, development, and function of multiple organ systems and is encompassed by the term fetal alcohol spectrum disorders (FASD). Research has so far focused on the mechanisms, prevention, and diagnosis of FASD, while the risk for adult-onset chronic diseases in individuals exposed to alcohol in utero is not well explored. David Barker's hypothesis on Developmental Origins of Health and Disease (DOHaD) suggests that insults to the milieu of the developing fetus program it for adult development of chronic diseases. In the 25 years since the introduction of this hypothesis, epidemiological and animal model studies have made significant advancements in identifying in utero developmental origins of chronic adult-onset diseases affecting cardiovascular, endocrine, musculoskeletal, and psychobehavioral systems. Teratogen exposure is an established programming agent for adult diseases, and recent studies suggest that prenatal alcohol exposure correlates with adult onset of neurobehavioral deficits, cardiovascular disease, endocrine dysfunction, and nutrient homeostasis instability, warranting additional investigation of alcohol-induced DOHaD, as well as patient follow-up well into adulthood for affected individuals. In utero epigenetic alterations during critical periods of methylation are a key potential mechanism for programming and susceptibility of adult-onset chronic diseases, with imprinted genes affecting metabolism being critical targets. Additional studies in epidemiology, phenotypic characterization in response to timing, dose, and duration of exposure, as well as elucidation of mechanisms underlying FASD-DOHaD inter relation, are thus needed to clinically define chronic disease associated with prenatal alcohol exposure. These studies are critical to establish interventional strategies that decrease incidence of these adult-onset diseases and promote healthier aging among individuals affected with FASD.

  11. Inflammatory Markers in Recent Onset Psychosis and Chronic Schizophrenia.

    Science.gov (United States)

    Dickerson, Faith; Stallings, Cassie; Origoni, Andrea; Schroeder, Jennifer; Katsafanas, Emily; Schweinfurth, Lucy; Savage, Christina; Khushalani, Sunil; Yolken, Robert

    2016-01-01

    Immune markers have been associated with schizophrenia, but few studies have examined multiple markers in both recent onset and chronic schizophrenia patients. The sample of 588 individuals included 79 with recent onset psychosis, 249 with chronic schizophrenia, and 260 controls. A combined inflammation score was calculated by principal components factor analysis of the levels of C-reactive protein, Pentraxin 3, and IgG antibodies to gliadin, casein, and Saccharomyces cerevisiae measured in blood samples. Inflammation scores among groups were compared by multivariate analyses. The chronic schizophrenia group showed significant elevations in the combined inflammation score compared with controls. The recent onset group surprisingly showed a reduction in the combined inflammation score. Consistent with these findings, the chronic schizophrenia group had significantly increased odds of a combined inflammation score greater than the 75th and the 90th percentile of that of the controls. The recent onset group had significantly increased odds of a combined inflammation score less than the 10th and the 25th percentile level of the controls. The recent onset of psychosis may be associated with inherent deficits in innate immunity. Individuals later in the course of disease may have increased levels of innate immunity. The reasons for these changes are not known with certainty but may be related to compensatory increases as the disease progresses. Longitudinal studies are needed to determine the course of immune abnormalities in schizophrenia and their role in the clinical manifestations of the disorder. © The Author 2015. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  12. Differences in clinical features observed between childhood-onset versus adult-onset systemic lupus erythematosus: A systematic review and meta-analysis.

    Science.gov (United States)

    Bundhun, Pravesh Kumar; Kumari, Alka; Huang, Feng

    2017-09-01

    Systemic lupus erythematosus (SLE) affects people in childhood (childhood onset) or in adulthood (adult onset). Observational studies that have previously compared childhood-onset versus adult-onset SLE were often restricted to 1 ethnic group, or to a particular area, with a small sample size of patients. We aimed to systematically compare childhood-onset versus adult-onset SLE through a meta-analysis. Electronic databases were searched for relevant publications comparing childhood-onset with adult-onset SLE. Adverse clinical features were considered as the endpoints. The Newcastle Ottawa Scale (NOS) was used to assess the methodological quality of the studies and RevMan software (version 5.3) was used to carry out this analysis whereby risk ratios (RRs) and 95% confidence intervals (95% CIs) were used as the statistical parameters. A total number of 10,261 participants (1560 participants with childhood-onset SLE and 8701 participants with adult-onset SLE) were enrolled. Results of this analysis showed that compared with childhood-onset SLE, pulmonary involvement was significantly higher with adult-onset SLE (RR: 1.51, 95% CI: 1.18-1.93; P = .001), whereas renal involvement was significantly higher with childhood-onset SLE (RR: 0.65, 95% CI: 0.55-0.77; P = .00001). Raynaud phenomenon and photosensitivity were significantly higher in adult-onset SLE (RR: 1.29, 95% CI: 1.04-1.60; P = .02) and (RR: 1.08, 95% CI: 1.01-1.17; P = .03), respectively. Malar rash significantly favored adult-onset SLE (RR: 0.84, 95% CI: 0.75-0.94; P = .002). Childhood-onset SLE was associated with significantly higher hemolytic anemia, thrombocytopenia, leukocytopenia, and lymphopenia. Seizure and ocular manifestations were significantly higher with childhood-onset SLE (RR: 0.57, 95% CI: 0.47-0.70; P = .00001) and (RR: 0.34, 95% CI: 0.21-0.55; P = .00001), respectively, whereas pleuritis was significantly higher with adult-onset SLE (RR: 1.45, 95% CI: 1

  13. Audiovisual Integration Delayed by Stimulus Onset Asynchrony Between Auditory and Visual Stimuli in Older Adults.

    Science.gov (United States)

    Ren, Yanna; Yang, Weiping; Nakahashi, Kohei; Takahashi, Satoshi; Wu, Jinglong

    2017-02-01

    Although neuronal studies have shown that audiovisual integration is regulated by temporal factors, there is still little knowledge about the impact of temporal factors on audiovisual integration in older adults. To clarify how stimulus onset asynchrony (SOA) between auditory and visual stimuli modulates age-related audiovisual integration, 20 younger adults (21-24 years) and 20 older adults (61-80 years) were instructed to perform an auditory or visual stimuli discrimination experiment. The results showed that in younger adults, audiovisual integration was altered from an enhancement (AV, A ± 50 V) to a depression (A ± 150 V). In older adults, the alterative pattern was similar to that for younger adults with the expansion of SOA; however, older adults showed significantly delayed onset for the time-window-of-integration and peak latency in all conditions, which further demonstrated that audiovisual integration was delayed more severely with the expansion of SOA, especially in the peak latency for V-preceded-A conditions in older adults. Our study suggested that audiovisual facilitative integration occurs only within a certain SOA range (e.g., -50 to 50 ms) in both younger and older adults. Moreover, our results confirm that the response for older adults was slowed and provided empirical evidence that integration ability is much more sensitive to the temporal alignment of audiovisual stimuli in older adults.

  14. The Origin of New-Onset Diabetes After Liver Transplantation: Liver, Islets, or Gut?

    Science.gov (United States)

    Ling, Qi; Xu, Xiao; Wang, Baohong; Li, Lanjuan; Zheng, Shusen

    2016-04-01

    New-onset diabetes is a frequent complication after solid organ transplantation. Although a number of common factors are associated with the disease, including recipient age, body mass index, hepatitis C infection, and use of immunosuppressive drugs, new-onset diabetes after liver transplantation (NODALT) has the following unique aspects and thus needs to be considered its own entity. First, a liver graft becomes the patient's primary metabolic regulator after liver transplantation, but this would not be the case for kidney or other grafts. The metabolic states, as well as the genetics of the graft, play crucial roles in the development of NODALT. Second, dysfunction of the islets of Langerhans is common in cirrhotic patients and would be exacerbated by immunosuppressive agents, particularly calcineurin inhibitors. On the other hand, minimized immunosuppressive protocols have been widely advocated in liver transplantation because of liver tolerance (immune privilege). Third and last, through the "gut-liver axis," graft function is closely linked to gut microbiota, which is now considered an important metabolic organ and known to independently influence the host's metabolic homeostasis. Liver transplant recipients present with specific gut microbiota that may be prone to trigger metabolic disorders. In this review, we proposed 3 possible sites for the origin of NODALT, which are liver, islets, and gut, to help elucidate the underlying mechanism of NODALT.

  15. Moderate stem-cell telomere shortening rate postpones cancer onset in a stochastic model

    Science.gov (United States)

    Holbek, Simon; Bendtsen, Kristian Moss; Juul, Jeppe

    2013-10-01

    Mammalian cells are restricted from proliferating indefinitely. Telomeres at the end of each chromosome are shortened at cell division and when they reach a critical length, the cell will enter permanent cell cycle arrest—a state known as senescence. This mechanism is thought to be tumor suppressing, as it helps prevent precancerous cells from dividing uncontrollably. Stem cells express the enzyme telomerase, which elongates the telomeres, thereby postponing senescence. However, unlike germ cells and most types of cancer cells, stem cells only express telomerase at levels insufficient to fully maintain the length of their telomeres, leading to a slow decline in proliferation potential. It is not yet fully understood how this decline influences the risk of cancer and the longevity of the organism. We here develop a stochastic model to explore the role of telomere dynamics in relation to both senescence and cancer. The model describes the accumulation of cancerous mutations in a multicellular organism and creates a coherent theoretical framework for interpreting the results of several recent experiments on telomerase regulation. We demonstrate that the longest average cancer-free lifespan before cancer onset is obtained when stem cells start with relatively long telomeres that are shortened at a steady rate at cell division. Furthermore, the risk of cancer early in life can be reduced by having a short initial telomere length. Finally, our model suggests that evolution will favor a shorter than optimal average cancer-free lifespan in order to postpone cancer onset until late in life.

  16. Deficits in Facial Expression Recognition in Male Adolescents with Early-Onset or Adolescence-Onset Conduct Disorder

    Science.gov (United States)

    Fairchild, Graeme; Van Goozen, Stephanie H. M.; Calder, Andrew J.; Stollery, Sarah J.; Goodyer, Ian M.

    2009-01-01

    Background: We examined whether conduct disorder (CD) is associated with deficits in facial expression recognition and, if so, whether these deficits are specific to the early-onset form of CD, which emerges in childhood. The findings could potentially inform the developmental taxonomic theory of antisocial behaviour, which suggests that…

  17. Deficits in Facial Expression Recognition in Male Adolescents with Early-Onset or Adolescence-Onset Conduct Disorder

    Science.gov (United States)

    Fairchild, Graeme; Van Goozen, Stephanie H. M.; Calder, Andrew J.; Stollery, Sarah J.; Goodyer, Ian M.

    2009-01-01

    Background: We examined whether conduct disorder (CD) is associated with deficits in facial expression recognition and, if so, whether these deficits are specific to the early-onset form of CD, which emerges in childhood. The findings could potentially inform the developmental taxonomic theory of antisocial behaviour, which suggests that…

  18. Cardiovascular Disease Risk Factors After Early-Onset Preeclampsia, Late-Onset Preeclampsia, and Pregnancy-Induced Hypertension

    NARCIS (Netherlands)

    Veerbeek, Jan H. W.; Hermes, Wietske; Breimer, Anath Y.; van Rijn, Bas B.; Koenen, Steven V.; Mol, Ben W.; Franx, Arie; de Groot, Christianne J. M.; Koster, Maria P. H.; Koster, M.P.H. (Wendy)

    2015-01-01

    Observational studies have shown an increased lifetime risk of cardiovascular disease (CVD) in women who experienced a hypertensive disorder in pregnancy. This risk is related to the severity of the pregnancy-related hypertensive disease and gestational age at onset. However, it has not been investi

  19. Pre-CME Onset Fuses - Do the STEREO Heliospheric Imagers Hold the Clues to the CME Onset Process?

    Science.gov (United States)

    Harrison, Richard A.; Davis, Christopher J.; Davies, Jackie A.

    2009-10-01

    Understanding the onset of coronal mass ejections (CMEs) is surely one of the holy grails of solar physics today. Inspection of data from the Heliospheric Imagers (HI), which are part of the SECCHI instrument suite aboard the two NASA STEREO spacecraft, appears to have revealed pre-eruption signatures which may provide valuable evidence for identifying the CME onset mechanism. Specifically, an examination of the HI images has revealed narrow rays comprised of a series of outward-propagating plasma blobs apparently forming near the edge of the streamer belt prior to many CME eruptions. In this pilot study, we inspect a limited dataset to explore the significance of this phenomenon, which we have termed a pre-CME ‘fuse’. Although, the enhanced expulsion of blobs may be consistent with an increase in the release of outward-propagating blobs from the streamers themselves, it could also be interpreted as evidence for interchange reconnection in the period leading to a CME onset. Indeed, it is argued that the latter could even have implications for the end-of-life of CMEs. Thus, the presence of these pre-CME fuses provides evidence that the CME onset mechanism is either related to streamer reconnection processes or the reconnection between closed field lines in the streamer belt and adjacent, open field lines. We investigate the nature of these fuses, including their timing and location with respect to CME launch sites, as well as their speed and topology.

  20. Clustering and age of onset in familial late onset Alzheimer`s disease are determined at the apoliopoprotein E locus

    Energy Technology Data Exchange (ETDEWEB)

    Houlden, H.; Rossor, M. [St. Mary`s Hospital Medical School, London (United Kingdom)

    1994-09-01

    Recent work has demonstrated that the apolipoprotein E (ApoE) genotype is of great importance in the etiology of Alzheimer`s disease (AD). Thus, inheritance of the ApoE4 allele predisposes to the occurrences of late onset disease and decreases the onset age in families with pathogenic mutations in the amyloid precursor protein gene. We analysed ApoE genotypes in 35 families multiply affected by AD and confirm that familial clustering in late onset AD is associated with the ApoE4 allele. This allele occurs in the great majority (82%) of late onset familial Alzheimer cases. Elderly unaffected sibs (80-90 years) have an allele frequency that is not significantly different to that of normal controls. Data presented from our family sets together previously published data is suggestive that the effect of a single ApoE4 allele is to increase the risk of developing AD by an amount equivalent to 5 years and that the effect of ApoE4 homozygosity is to increase the risk of developing AD by an amount equivalent to 10 years of age. Data shows significant difference between the frequency of the ApoE4 allele in the familial AD probands and controls and in both sets of unaffected sibs, p<0.01.

  1. Oxygen-induced transcriptional dynamics in human osteoblasts are most prominent at the onset of mineralization.

    Science.gov (United States)

    Nicolaije, Claudia; van de Peppel, Jeroen; van Leeuwen, Johannes P T M

    2013-09-01

    Oxygen tension plays an important role in the regulation of cellular processes. During hematopoietic stem cell (HSC) differentiation, HSCs migrate from one stem cell niche to the next, each with a different oxygen tension that determines which signaling pathways are on and off, determining the differentiation stage of the cell. Oxygen tension influences osteoblast differentiation and mineralization. Low oxygen levels inhibit matrix formation and mineralization. We were interested in the regulatory mechanisms that underlie this inhibition and wondered whether a switch in oxygen tension could have varying effects depending on the differentiation phase of the osteoblasts. We performed an oxygen tension switch phase study in which we switched osteoblasts from high to low oxygen tension during their 3 week differentiation and mineralization process. We performed microarray expression profiling on samples collected during this 3 week period and analyzed biochemical and histo-chemical endpoint parameters to determine the effect of a switch in oxygen levels on mineralization. We found that low oxygen tension has the most profound impact on mineralization when administered during the period of matrix maturation. Additionally, a large set of genes was regulated by oxygen, independent of the differentiation phase. These genes were involved in cell metabolisms and matrix formation. Our study demonstrates that variation in oxygen tension strongly affects gene expression in differentiating osteoblasts. The magnitude of this change for either expression levels or the number of regulated probes, depends on the osteoblast differentiation stage, with the phase prior to the onset of mineralization being most sensitive.

  2. Oscillatory blood pressure response to the onset of cycling exercise in men

    DEFF Research Database (Denmark)

    Barbosa, Thales C; Fernandes, Igor A; Magalhães-Jr, Nisval

    2015-01-01

    NEW FINDINGS: What is the central question of this study? Neural feedback from group III/IV muscle afferents has a key role in regulation of cardiovascular responses to exercise. Blood pressure oscillates in the first seconds of dynamic exercise, but the contribution of muscle afferent feedback...... of the oscillatory pattern of blood pressure at the onset of exercise. We investigated whether attenuation of the central projections of group III/IV skeletal muscle afferents via lumbar intrathecal administration of the μ-opioid receptor agonist fentanyl affects the oscillatory blood pressure (BP) response...... to this pattern is unclear. What is the main finding and its importance? We demonstrate that attenuation of group III/IV muscle afferent feedback by spinal fentanyl impairs the pressor response after 10 s of moderate leg cycling exercise, but this afferent feedback does not appear to be necessary for induction...

  3. Late Onset Ipilimumab-Induced Pericarditis and Pericardial Effusion: A Rare but Life Threatening Complication

    Directory of Open Access Journals (Sweden)

    Seongseok Yun

    2015-01-01

    Full Text Available Metastatic cutaneous melanoma has poor prognosis with 2-year survival rate of 10–20%. Melanoma cells express various antigens including gp100, melanoma antigen recognized by T cells 1 (MART-1, and tyrosinase, which can induce immune-mediated anticancer response via T cell activation. Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4 is an immune check point molecule that negatively regulates T cell activation and proliferation. Accordingly, recent phase III clinical trials demonstrated significant survival benefit with ipilimumab, a human monoclonal antibody (IgG1 that blocks the interaction of CTLA-4 with its ligands. Since the efficacy of ipilimumab depends on T cell activation, it is associated with substantial risk of immune mediated adverse reactions such as colitis, hepatitis, thyroiditis, and hypophysitis. We report the first case of late onset pericarditis and cardiac tamponade associated with ipilimumab treatment in patient with metastatic cutaneous melanoma.

  4. The roles of cellular and organismal aging in the development of late-onset maladies.

    Science.gov (United States)

    Carvalhal Marques, Filipa; Volovik, Yuli; Cohen, Ehud

    2015-01-01

    Numerous disorders, including neurodegenerative diseases and certain types of cancer, manifest late in life. This common feature raises the prospect that an aging-associated decline in the activity of cellular and organismal maintenance mechanisms enables the emergence of these maladies in late life stages. Accordingly, the alteration of aging bears the promise of harnessing the mechanisms that protect the young organism to prevent illness in the elderly. The identification of aging-regulatory pathways has enabled scrutiny of this hypothesis and revealed that the alteration of aging protects invertebrates and mammals from toxic protein aggregation linked to neurodegeneration and from cancer. Here we review the current knowledge on the regulation of aging at the cellular and organismal levels, delineate the mechanistic links between aging and late-onset disorders, describe efforts to develop compounds that protect from these maladies by selectively manipulating aging, and discuss future research directions and possible therapeutic implications of this approach.

  5. Outcome of kidney allograft in patients with adulthood-onset focal segmental glomerulosclerosis: comparison with childhood-onset FSGS.

    Science.gov (United States)

    Hwang, Jin Ho; Han, Seung Seok; Huh, Wooseong; Park, Su-Kil; Joo, Dong Jin; Kim, Myoung Soo; Kim, Yu Seun; Min, Sang-Il; Ha, Jongwon; Kim, Sang Joon; Kim, Suhnggwon; Kim, Yon Su

    2012-06-01

    Idiopathic focal segmental glomerulosclerosis (FSGS) occurring at young age is known to predispose to poor graft outcome, but the outcome of adulthood-onset FSGS (A-FSGS) has not been thoroughly investigated. Here, we compared the graft outcomes between kidney recipients with A-FSGS and childhood-onset FSGS (C-FSGS). We enrolled 47 A-FSGS recipients and 60 C-FSGS recipients with an onset age of ≤ 15, from four of the largest transplant centers in Korea. The baseline characteristics were similar between two groups. The 1- and 3-year cumulative recurrence rates were 20.0 and 22.1%, respectively. FSGS was recurrent in 19 C-FSGS patients [median duration, 2 months (interquartile range, IQR, 1-35)], and 11 patients had recurrent disease in A-FSGS [5 months (IQR, 3-37)]. The recurrence rate was similar between two groups (P = 0.126). The 5- and 10-year graft survival rates were 90.0 and 78.5%, respectively. The overall graft survival rates were not different between two groups. After adjusting baseline characteristics, the development of major outcomes was similar between two groups except acute rejection that was more frequent in A-FSGS. The age of disease onset did not affect recurrence in both groups. While grafts with recurrence had poorer graft survival in the A-FSGS group (P = 0.005), the recurrence was not associated with graft loss in the C-FSGS group (P = 0.558). The onset age did not affect the graft outcome in patients with FSGS, and the recurrence significantly affected graft survival in A-FSGS. Therefore, the main focus should aim for the management of recurrence.

  6. NORM regulations

    Energy Technology Data Exchange (ETDEWEB)

    Gray, P. [ed.

    1997-02-01

    The author reviews the question of regulation for naturally occuring radioactive material (NORM), and the factors that have made this a more prominent concern today. Past practices have been very relaxed, and have often involved very poor records, the involvment of contractors, and the disposition of contaminated equipment back into commercial service. The rationale behind the establishment of regulations is to provide worker protection, to exempt low risk materials, to aid in scrap recycling, to provide direction for remediation and to examine disposal options. The author reviews existing regulations at federal and state levels, impending legislation, and touches on the issue of site remediation and potential liabilities affecting the release of sites contaminated by NORM.

  7. Climatic Controls on Spring Onset of the Tibetan Plateau Grasslands from 1982 to 2008

    Directory of Open Access Journals (Sweden)

    Wenjiang Zhang

    2015-12-01

    Full Text Available Understanding environmental controls on vegetation spring onset (SO in the Tibetan Plateau (TP is crucial to diagnosing regional ecosystem responses to climate change. We investigated environmental controls on the SO of the TP grasslands using satellite vegetation index (VI from the 3rd Global Inventory Modeling and Mapping Studies (GIMMS3g product, with in situ air temperature (Ta and precipitation (Prcp measurement records from 1982 to 2008. The SO was determined using a dynamic threshold method based on a 25% threshold of seasonal VI amplitude. We find that SO shows overall close associations with spring Ta, but is also subject to regulation from spring precipitation. In relatively dry but increasingly wetting (0.50 mm·year−1, p < 0.10 grasslands (mean spring Prcp = 22.8 mm; Ta = −3.27 °C, more precipitation tends to advance SO (−0.146 day·mm−1, p = 0.150 before the mid-1990s, but delays SO (0.110 day·mm−1, p = 0.108 over the latter record attributed to lower solar radiation and cooler temperatures associated with Prcp increases in recent years. In contrast, in relatively humid TP grasslands (73.0 mm; −3.51 °C, more precipitation delays SO (0.036 day·mm−1, p = 0.165 despite regional warming (0.045 °C·year−1, p < 0.05; the SO also shows a delaying response to a standardized drought index (mean R = 0.266, indicating a low energy constraint to vegetation onset. Our results highlight the importance of surface moisture status in regulating the phenological response of alpine grasslands to climate warming.

  8. Amplitude envelope onsets and developmental dyslexia: A new hypothesis.

    Science.gov (United States)

    Goswami, Usha; Thomson, Jennifer; Richardson, Ulla; Stainthorp, Rhona; Hughes, Diana; Rosen, Stuart; Scott, Sophie K

    2002-08-06

    A core difficulty in developmental dyslexia is the accurate specification and neural representation of speech. We argue that a likely perceptual cause of this difficulty is a deficit in the perceptual experience of rhythmic timing. Speech rhythm is one of the earliest cues used by infants to discriminate syllables and is determined principally by the acoustic structure of amplitude modulation at relatively low rates in the signal. We show significant differences between dyslexic and normally reading children, and between young early readers and normal developers, in amplitude envelope onset detection. We further show that individual differences in sensitivity to the shape of amplitude modulation account for 25% of the variance in reading and spelling acquisition even after controlling for individual differences in age, nonverbal IQ, and vocabulary. A possible causal explanation dependent on perceptual-center detection and the onset-rime representation of syllables is discussed.

  9. Onset of Impaired Sleep and Cardiovascular Disease Risk Factors

    DEFF Research Database (Denmark)

    Clark, Alice Jessie; Salo, Paula; Lange, Theis

    2016-01-01

    , and dyslipidemia). METHODS: In a longitudinal cohort study with 3 survey waves (2000, 2004, 2008) from the Finnish Public Sector study we used repeated information on sleep duration and disturbances to determine onset of impaired sleep. Information on development of CVD risk factors, as indicated by initiation......STUDY OBJECTIVES: Impaired sleep has been linked to increased risk of cardiovascular disease (CVD), but the underlying mechanisms are still unsettled. We sought to determine how onset of impaired sleep affects the risk of established physiological CVD risk factors (i.e., hypertension, diabetes...... of medication for hypertension, diabetes, and dyslipidemia was derived from electronic medical records within 8 years of follow-up. Data on 45,647 participants was structured as two data-cycles to examine the effect of change in sleep (between two waves) on incident CVD events. We applied strict inclusion...

  10. Late-onset Pompe disease: first clinical description in Russia

    Directory of Open Access Journals (Sweden)

    S. S. Nikitin

    2014-01-01

    Full Text Available Late-onset Pompe-disease (LOPD is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation of creatine kinase, dry blood spot test of the enzyme activity and DNA-analysis of GAA-gene. Early recognition of the LOPD and beginning of the enzyme replacement therapy is important in preventing severe motor and respiratory deficit, the patient disability and in increasing the survival in those patients.

  11. Inflammation profile of four early onset Crohn patients.

    Science.gov (United States)

    Marcuzzi, Annalisa; Girardelli, Martina; Bianco, Anna Monica; Martelossi, Stefano; Magnolato, Andrea; Tommasini, Alberto; Crovella, Sergio

    2012-02-10

    Crohn disease (CD) is a multifactorial disorder affecting mainly young adults. Sometimes, however, it can present in the first year of life (Early onset Crohn disease (EOCD)) showing an unpredictable course and can often be more severe than at older ages. Some cases have been associated to an underlying primary immunodeficiency such as IL10R deficiency. We studied the functional response to IL-10 and the genotype of IL-10 receptor in four patients with early onset crohn-like colitis. We found an IL10R variant, which may be associated with a decreased response to the cytokine in one patient. Further studies to determine its pathogenic effect should be performed. In addition IL-10 mediated inhibition of LPS-induced TNFα expression was measured in patient's monocytes.

  12. Acute onset headache complicating labor epidural caused by intrapartum pneumocephalus.

    Science.gov (United States)

    Smarkusky, Loren; DeCarvalho, Helena; Bermudez, Ady; González-Quintero, Víctor Hugo

    2006-09-01

    Epidural placement for obstetric anesthesia is a common procedure. Pneumocephalus, the introduction of air into the cranial cavity after epidural placement, is a rare complication encountered when air is used for identification of the epidural space. A 42-year-old primipara undergoing epidural placement reported sudden onset of severe headache with associated neurologic symptoms and nuchal rigidity. Emergent CT scan revealed pneumocephalus. With conservative management, her symptoms resolved with interval resumption of the air collection evidenced on interval CT. Acute onset headache after epidural placement can present with impressive neurologic signs and symptoms. Prompt identification of the cause of this pathology is of vital importance to delineate pneumocephalus from potentially treatable or life-threatening disorders.

  13. Structural brain abnormalities in early onset first-episode psychosis

    DEFF Research Database (Denmark)

    Pagsberg, A K; Baaré, William Frans Christian; Raabjerg Christensen, A M

    2007-01-01

    , delusional disorder or other non-organic psychosis), aged 10-18 to those of 29 matched controls, using optimized voxel-based morphometry. RESULTS: Psychotic patients had frontal white matter abnormalities, but expected (regional) gray matter reductions were not observed. Post hoc analyses revealed...... that schizophrenia patients (n = 15) had significantly larger lateral ventricles as compared to controls. Duration and dose of antipsychotics correlated negatively with global gray matter volume in minimally medicated patients (n = 18). CONCLUSION: Findings of white matter changes and enlarged lateral ventricles...... already at illness onset in young schizophrenia spectrum patients, suggests aberrant neurodevelopmental processes in the pathogenesis of these disorders. Gray matter volume changes, however, appear not to be a key feature in early onset first-episode psychosis....

  14. Social relations as determinant of onset of disability in aging

    DEFF Research Database (Denmark)

    Avlund, Kirsten; Holstein, Bjørn E; Due, Pernille

    2013-01-01

    The purpose of the study was to analyze whether social relations are related to onset of disability among old people at 1.5 year follow-up and whether these relations vary by age and gender. The study is based on baseline and 1.5 year follow-up data on 1396 older non-disabled adults. Social...... relations were measured by questions about diversity in social relations, social participation, satisfaction with social relations and instrumental social support. Onset of disability was described as developing need of help in at least one of six mobility activities. The results showed that a large...... diversity in social relations and high social participation were important factors for maintaining functional ability among the 75-year-old men and women, while social support was a risk factor for functional decline among the 80-year-old men. The present study suggests that being "embedded" in a strong...

  15. Social relations as determinant of onset of disability in aging

    DEFF Research Database (Denmark)

    Avlund, Kirsten; Lund, Rikke; Holstein, Bjørn E

    2003-01-01

    The purpose of the study was to analyze whether social relations are related to onset of disability among old people at 1.5 year follow-up and whether these relations vary by age and gender. The study is based on baseline and 1.5 year follow-up data on 1396 older non-disabled adults. Social...... relations were measured by questions about diversity in social relations, social participation, satisfaction with social relations and instrumental social support. Onset of disability was described as developing need of help in at least one of six mobility activities. The results showed that a large...... diversity in social relations and high social participation were important factors for maintaining functional ability among the 75-year-old men and women, while social support was a risk factor for functional decline among the 80-year-old men. The present study suggests that being "embedded" in a strong...

  16. Alzheimer's disease: a mathematical model for onset and progression

    CERN Document Server

    Bertsch, Michiel; Marcello, Norina; Tesi, Maria Carla; Tosin, Andrea

    2015-01-01

    In this paper we propose a mathematical model for the onset and progression of Alzheimer's disease based on transport and diffusion equations. We regard brain neurons as a continuous medium, and structure them by their degree of malfunctioning. Two different mechanisms are assumed to be relevant for the temporal evolution of the disease: i) diffusion and agglomeration of soluble polymers of amyloid, produced by damaged neurons; ii) neuron-to-neuron prion-like transmission. We model these two processes by a system of Smoluchowski equations for the amyloid concentration, coupled to a kinetic-type transport equation for the distribution function of the degree of malfunctioning of neurons. The second equation contains an integral term describing the random onset of the disease as a jump process localized in particularly sensitive areas of the brain. Even though we deliberately neglect many aspects of the complexity of the brain and the disease, numerical simulations are in good qualitative agreement with clinical...

  17. Risk Assessment in Neonatal Early-Onset Sepsis

    Science.gov (United States)

    Mukhopadhyay, Sagori; Puopolo, Karen M.

    2013-01-01

    The incidence of neonatal early-onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early-onset sepsis remains a potentially fatal condition, particularly among very low-birth weight infants. Clinical signs of neonatal infection are non-specific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk, and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures. PMID:23177799

  18. The onset of MHD nanofluid convection with Hall current effect

    Science.gov (United States)

    Yadav, Dhananjay; Lee, Jinho

    2015-08-01

    In this paper, the combined effects of Hall current and magnetic field on the onset of convection in an electrically conducting nanofluid layer heated from below is investigated. A physically more realistic boundary condition on the nanoparticle volume fraction is taken i.e. the nanoparticle flux is assumed to be zero rather than prescribing a nanoparticle volume fraction on the rigid impermeable boundaries. The employed model incorporates the effects of Brownian motion and thermophoresis. The resulting eigenvalue problem is solved using the Galerkin method. The results obtained during the analysis are presented graphically for an alumina-water nanofluid. It is observed that the effect of smaller values of the Hall current parameter and the nanoparticle parameters accelerate the onset of convection, while larger values of the Hall current parameter (≥ 15) have no effect on the system stabilities.

  19. Social relations as determinant of onset of disability in aging

    DEFF Research Database (Denmark)

    Avlund, Kirsten; Holstein, Bjørn E; Due, Pernille

    2013-01-01

    The purpose of the study was to analyze whether social relations are related to onset of disability among old people at 1.5 year follow-up and whether these relations vary by age and gender. The study is based on baseline and 1.5 year follow-up data on 1396 older non-disabled adults. Social...... relations were measured by questions about diversity in social relations, social participation, satisfaction with social relations and instrumental social support. Onset of disability was described as developing need of help in at least one of six mobility activities. The results showed that a large...... network of social relations provides protection against disability by reducing risk of developing disability....

  20. Familial early onset sarcoidosis with bone cysts and erosions

    Energy Technology Data Exchange (ETDEWEB)

    Blank, Norbert; Max, Regina; Lorenz, Hanns-Martin [University of Heidelberg, Department of Internal Medicine V, Division of Rheumatology, Heidelberg (Germany); Autschbach, Frank [University of Heidelberg, Department of Pathology, Heidelberg (Germany); Libicher, Martin [University of Cologne, Department of Radiology, Cologne (Germany)

    2007-09-15

    Early onset sarcoidosis is a granulomatous disease which is characterized by synovitis, polyarthritis, skin and eye involvement. We report the skeletal features of one patient with a family history and clinical symptoms suggestive of early onset sarcoidosis (EOS) which was confirmed by skin biopsy. Radiographs reveal postarthritic deformities of the MCP joints, contractures, a coarsened trabecular pattern at the PIP joints and small bone cysts resembling osteitis cystoides multiplex. Similar lesions were described in radiographs of the older sister and an uncle of our patient. This is the first report demonstrating bone cysts and erosions which could be a diagnostic feature in this rare disease and may help to differentiate other rheumatoid disorders. (orig.)

  1. Atypical presentation of late-onset Tay-Sachs disease.

    Science.gov (United States)

    Deik, Andres; Saunders-Pullman, Rachel

    2014-05-01

    Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Copyright © 2013 Wiley Periodicals, Inc.

  2. Genetic Determinism of Primary Early-Onset Osteoarthritis.

    Science.gov (United States)

    Aury-Landas, Juliette; Marcelli, Christian; Leclercq, Sylvain; Boumédiene, Karim; Baugé, Catherine

    2016-01-01

    Osteoarthritis (OA) is the most common joint disease worldwide. A minority of cases correspond to familial presentation characterized by early-onset forms which are genetically heterogeneous. This review brings a new point of view on the molecular basis of OA by focusing on gene mutations causing early-onset OA (EO-OA). Recently, thanks to whole-exome sequencing, a gain-of-function mutation in the TNFRSF11B gene was identified in two distant family members with EO-OA, opening new therapeutic perspectives for OA. Indeed, unraveling the molecular basis of rare Mendelian OA forms will improve our understanding of molecular processes involved in OA pathogenesis and will contribute to better patient diagnosis, management, and therapy.

  3. New Horizons and the onset of the Pioneer anomaly

    Science.gov (United States)

    Nieto, Michael Martin

    2008-01-01

    Analysis of the radio tracking data from the Pioneer 10/11 spacecraft at distances between about 20 70 AU from the Sun has indicated the presence of an unmodeled, small, constant, Doppler blue shift which can be interpreted as a constant acceleration of a=(8.74±1.33)×10 cm/s directed approximately towards the Sun. In addition, there is early (roughly modeled) data from as close in as 5 AU which indicates there may have been an onset of the anomaly near Saturn. We observe that the data now arriving from the New Horizons mission to Pluto and the Kuiper Belt could allow a relatively easy, direct experimental test of whether this onset is associated with distance from the Sun (being, for example, an effect of drag on dark matter). We strongly urge that this test be done.

  4. New Horizons and the Onset of the Pioneer Anomaly

    CERN Document Server

    Nieto, Michael Martin

    2008-01-01

    Analysis of the radio tracking data from the Pioneer 10/11 spacecraft at distances between about 20 - 70 AU from the Sun has indicated the presence of an unmodeled, small, constant, Doppler blue shift which can be interpreted as a constant acceleration of a_P= (8.74 \\pm 1.33) \\times 10^{-8} cm/s^2 directed approximately {\\it towards} the Sun. In addition, there is early (roughly modeled) data from as close in as 5 AU which indicates there may have been an onset of the anomaly near Saturn. We observe that the data now arriving from the New Horizons mission to Pluto and the Kuiper Belt could allow a relatively easy, direct experimental test of whether this onset is associated with distance from the Sun (being, for example, an effect of drag on dark matter). We strongly urge that this test be done.

  5. Early-onset androgenetic alopecia and endocrine disruptors

    Directory of Open Access Journals (Sweden)

    M. Guarrera

    2011-01-01

    Full Text Available Androgenetic alopecia (AGA is the most common acquired non scarring alopecia in humans caused by androgen hormones in the setting of a genetic predisposition. Usually AGA starts after puberty, but recently it has been observed also in adolescents. Their mean age was 13 years with a slight prevalence in males. The premature AGA may be caused by environmental, alimentary (meat and milk or cosmetics overexposure to sexual hormones or to endocrine disrupters (EDs. EDs are "exogenous substances that interfere with the synthesis, secretion, transport, binding, action, or elimination of natural hormones in the body causing adverse effects to human health" and they are able bind to the steroid hormone receptors. Early onset AGA may be linked to the well known phenomenon of early puberty caused in some cases by hormones contained in food or by environmental chemicals. Therefore it is likely that the EDs may play a role also in the pathogenesis of early-onset AGA.

  6. Onset conditions for flash sintering of UO2

    Science.gov (United States)

    Raftery, Alicia M.; Pereira da Silva, João Gustavo; Byler, Darrin D.; Andersson, David A.; Uberuaga, Blas P.; Stanek, Christopher R.; McClellan, Kenneth J.

    2017-09-01

    In this work, flash sintering was demonstrated on stoichiometric and non-stoichiometric uranium dioxide pellets at temperatures ranging from room temperature (26 °C) up to 600 °C . The onset conditions for flash sintering were determined for three stoichiometries (UO2.00, UO2.08, and UO2.16) and analyzed against an established thermal runaway model. The presence of excess oxygen was found to enhance the flash sintering onset behavior of uranium dioxide, lowering the field required to flash and shortening the time required for a flash to occur. The results from this study highlight the effect of stoichiometry on the flash sintering behavior of uranium dioxide and will serve as the foundation for future studies on this material.

  7. A Study Of Sporadic Adult Onset Degenerative Cerebellar Ataxias

    Directory of Open Access Journals (Sweden)

    Sinha K K

    1999-01-01

    Full Text Available Twenty-four cases of sporadic olivo-ponto-cerebellar atrophy (OPCA of adult onset were studied over a period of two years. Results suggest that this disorder has its usual onset in the 5th and 6th decade of life with a male: female ratio of 2:1. It manifests clinically with gait ataxia in all, dysarthria, other cerebellar signs and autonomic involvement in vast majority. There were features of basal ganglia involvement in some. No known identifiable environmental cause was found and genetically they are quite distinct from the known autosomal dominant spinocerebellar ataxias though sporadic occurrence in recessive inheritance or a de novo mutation could not be ruled out completely, but it is unlikely.

  8. New onset of idiopathic bilateral ear tics in an adult.

    Science.gov (United States)

    Agrawal, Amit; Shrestha, Rabin

    2009-04-01

    Tic disorders are commonly considered to be childhood syndromes. Newly presenting tic disorders during adulthood are uncommon and mostly described in relation to an acquired brain lesion or as incidental tics, particularly in context with other neurological or psychiatric diseases. Tic disorder involving the ears is extremely uncommon with only few studies in English literature. In the present case, we describe an adult patient with new-onset idiopathic tics disorder involving both ears, causing social embarrassment. In addition, our patient had recent onset of the tics without any childhood or family history of tic disorders. The single most important component of management is an accurate diagnosis. At the same time, tics should be differentiated from other movement disorders such as chorea, stereotypy, and dystonias.

  9. Onset behavior of standing wave thermoacoustic pressure wave generator

    Science.gov (United States)

    Mehta, Shreya; Desai, Keyur; Naik, Hemant Bhimbhai; Atrey, Milind

    2012-06-01

    A standing wave type thermoacoustic pressure wave generator for 300 Hz operating frequency is designed and developed for helium as a working fluid. The device is designed as a half wave length resonator. A parallel plate type SS 304 stack is designed and fabricated. An electric heater is used for heat supply to the hot end heat exchanger while a water cooled heat exchanger is used to maintain the other end of the stack near ambient temperature. An acoustic amplifier is used to amplify the pressure ratio generated. Experiments are conducted to study the onset behavior of pressure wave generator in terms of temperature range. Observations are recorded using piezoelectric pressure transducer. The results are obtained with different charging pressure and heat inputs. A pressure ratio of around 1.1 to 1.15 has been obtained using Nitrogen as a working fluid. The onset of thermoacoustic oscillations are studied for different filling pressure and for a range of hot end temperature.

  10. Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis

    Science.gov (United States)

    Cao, Lingling; Wang, Yanling; Liu, Xiaofeng; Hu, Yanxia; Li, Nianchun; Qiu, Guoping; Luo, Yun; Li, Weidong

    2016-01-01

    Abstract Myasthenia gravis (MG) is an autoimmune neuromuscular junction disorder which is characterized by fluctuating muscle fatigue. However, the association of MG with nemaline myopathy is rarely reported. Here we report a case of MG coexisting with adult-onset nemaline myopathy. A 55-year-old man endured fluctuating muscle weakness with positive acetylcholine receptor and titin antibodies. After the patient was administrated cholinergic drugs and immunosuppression, the muscle weakness of the patient had mildly been alleviated. Electromyography showed a progressive decrement in the amplitude of muscle action potential at low frequency. Muscle biopsy showed numerous nemalines in the muscle fibers. This is the first reported case of nemalines present in the muscle fibers of adult patient with MG. The pathogenesis of nemaline may be related to titin antibody in adult-onset nemaline myopathy with MG. PMID:26825889

  11. Sporadic late onset nemaline myopathy and immunoglobulin deposition disease.

    Science.gov (United States)

    Doppler, Kathrin; Knop, Stefan; Einsele, Hermann; Sommer, Claudia; Wessig, Carsten

    2013-12-01

    In monoclonal gammopathy, organ dysfunction can occur due to deposition of immunoglobulin fragments. A rare form of acquired myopathy often associated with monoclonal gammopathy is sporadic late onset nemaline myopathy (SLONM), which is characterized by nemaline rods in myofibers. The pathogenetic link between monoclonal gammopathy and SLONM has not yet been elucidated. Case report of a patient with monoclonal gammopathy who developed a progressive myopathy, finally diagnosed as SLONM. A muscle biopsy showed mild myopathic changes. A second biopsy 1 year after clinical onset demonstrated deposition of immunoglobulin light and heavy chains and the presence of nemaline rods. The patient experienced marked improvement of muscle strength after autologous stem cell transplantation and treatment with bortezomib, a therapy that is known to be effective in light chain deposition disease. We speculate that deposition of light and heavy chains, rather than nemaline bodies, has myotoxic effects on skeletal muscle. Copyright © 2013 Wiley Periodicals, Inc.

  12. Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

    Science.gov (United States)

    Verghese, J; Weidenheim, K; Malik, S; Rapin, I

    2002-11-01

    Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence of glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype and pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries. Diagnosis was confirmed in both cases by post-mortem examination. POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD.

  13. Late Onset of Acute Urticaria after Bee Stings

    Directory of Open Access Journals (Sweden)

    Yuko Asai

    2016-12-01

    Full Text Available Here we report the cases of five patients with a late onset of acute urticaria after a bee sting. The ages of the five Japanese patients ranged from 33 to 86 years (median: 61. All patients had no history of an allergic reaction to bee stings. The onset of urticaria was 6–14 days (median: 10 after a bee sting. Although four of the patients did not describe experiencing a bee sting at their presentation, the subsequent examination detected anti-bee-specific IgE antibodies. So, we think a history of a bee sting should thus be part of the medical interview sheet for patients with acute urticaria, and an examination of IgE for bees may help prevent a severe bee-related anaphylactic reaction in the future.

  14. Stiff-person syndrome with early onset in infancy

    Directory of Open Access Journals (Sweden)

    S. A. Malmberg

    2015-01-01

    Full Text Available The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed.

  15. Numerical Analysis of Modal Instability Onset in Fiber Amplifiers

    Science.gov (United States)

    2014-03-11

    Evolution of the logarithmic frequency spectrum of the off-center optical intensity probe along the length of the co-pumped amplifier for the case of...Evolution of the logarithmic frequency spectrum of the off-center optical intensity probe along the length of the counter-pumped amplifier for the...ABSTRACT 16. SECURITY CLASSIFICATION OF: Numerical analysis of the onset of modal instability in fiber amplifiers is presented. Specifically calculations

  16. Dementia with impaired glucose metabolism in late onset metachromatic leukodystrophy

    DEFF Research Database (Denmark)

    Johannsen, P.; Ehlers, L.; Hansen, Hans Jacob

    2001-01-01

    An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction and...... was observed using positron emission tomography and fluor-18-labeled fluorodesoxyglucose. The neuropsychological deficits are related to the location of deficits in glucose metabolism....

  17. Schizophrenia with childhood onset: a phenomenological study of 38 cases.

    Science.gov (United States)

    Green, W H; Padron-Gayol, M; Hardesty, A S; Bassiri, M

    1992-09-01

    Thirty-eight hospitalized children, ages 5.7 to 11.11 years, diagnosed with schizophrenic disorder by DSM-III criteria, are characterized regarding age, sex, race, socioeconomic status, pre- and perinatal complications, electroencephalogram, intelligence quotient, and family history of major psychiatric disorder. Clinical course, including age at onset of general and psychotic psychiatric symptoms and initial diagnosis of schizophrenic disorder, presence of DSM-III symptoms, hospital course, and response to antipsychotics are reviewed.

  18. Walking strategies in subjects with congenital or early onset strabismus

    OpenAIRE

    Irene eAprile; Maurizio eFerrarin; Luca ePadua; Enrica eDi Sipio; Chiara eSimbolotti; Sergio ePetroni; Costanza eTredici; Anna eDickmann

    2014-01-01

    Introduction: In congenital strabismus, sensory adaptations occur hampering the correct development of normal binocular vision. The aim of this study is to investigate if patients with congenital or early onset exotropic or esotropic strabismus adopt different walking strategies with respect to healthy subjects. Our hypothesis is that the abnormal binocular cooperation, occurring in patients with exotropic or esotropic strabismus, could influence neurosensorial adaptation of the gait pattern....

  19. 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.

  20. The Onset of Quark-Hadron Duality in Pion Electroproduction

    CERN Document Server

    Navasardyan, T; Ahmidouch, A; Angelescu, T; Arrington, J; Asaturyan, R; Baker, O K; Benmouna, N; Bertoncini, C; Blok, H P; Bosted, P E; Breuer, H; Böglin, W; Christy, M E; Connell, S H; Cui, Y; Dalton, M M; Danagulyan, S; Day, D; Dodario, T; Dunne, J A; Dutta, D; Ent, R; Fenker, H C; Frolov, V V; Gan, L; Gaskell, D; Hafidi, K; Hinton, W; Holt, R J; Horn, T; Huber, G M; Hungerford, E; Jiang, X; Jones, M; Joo, K; Kalantarians, N; Kelly, J J; Keppel, C E; Khayari, N E; Kinney, E R; Kubarovski, V; Li, Y; Liang, Y; Malace, S; Markowitz, P; McGrath, E; McKee, P; Meekins, D G; Mkrtchyan, H; Moziak, B; Niculescu, G; Niculescu, I; Opper, A K; Ostapenko, T; Reimer, P; Reinhold, J; Roche, J; Rock, S E; Schulte, E; Segbefia, E; Smith, C; Smith, G R; Stoler, P; Tadevosyan, V; Tang, L; Ungaro, M; Uzzle, A; Vidakovic, S; Villano, A; Vulcan, W F; Wang, M; Warren, G; Wesselmann, F; Wojtsekhowski, B; Wood, S A; Xu, C; Yuan, L; Zheng, X; Zhu, H

    2007-01-01

    A large data set of charged-pion electroproduction from both hydrogen and deuterium targets has been obtained spanning the low-energy residual-mass region. These data conclusively show the onset of the quark-hadron duality phenomenon, as predicted for high-energy hadron electroproduction. We construct several ratios from these data to exhibit the relation of this phenomenon to the high-energy factorization ansatz of electron-quark scattering and subsequent quark-to- pion production mechanisms.

  1. Severe delayed-onset hypersensitivity reactions to amoxicillin in children.

    OpenAIRE

    Chopra, R; Roberts, J.; Warrington, R. J.

    1989-01-01

    Amoxicillin, a semisynthetic aminopenicillin, has achieved widespread use in recent years for the treatment of respiratory tract and otic infections. Serious reactions have been relatively infrequent. From July 1986 to June 1987, 11 children aged 6 months to 10 years presented with delayed-onset hypersensitivity reactions. In 10 the symptoms were consistent with a serum-sickness-like illness, including urticaria, angioedema, arthritis and arthralgia. Radioallergosorbent testing for IgE antibo...

  2. MYOCLONIC EPILEPSY OF LATE-ONSET IN TRISOMY-21

    OpenAIRE

    L. M. Li; ODONOGHUE, N. F.; Sander, JWAS

    1995-01-01

    We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.

  3. Flocculation onset, growth phase and genealogical age in Saccharomyces cerevisiae

    OpenAIRE

    Soares, Eduardo V.; Mota, M

    1996-01-01

    Flocculation onset, the time during the fermentative cycle at which the strains of Saccharomyces cerevisiae become flocculent, is an important factor in the brewing industry. The flocculation ability of Flo 1 phenotype (strain NCYC 869) remained practically unchanged throughout the growth and seems to be insensitive to the presence of nutrients of the culture medium. On the contrary, the flocculation of NewFlo phenotype (strain NCYC 1195) exhibited a cyclic behaviour. It was found that the lo...

  4. Late Onset Combined Immunodeficiency Presenting with Recurrent Pneumocystis jiroveci Pneumonia

    OpenAIRE

    Ilias Papakonstantinou; Ioannis G. Baraboutis; Lazaros Karnesis

    2014-01-01

    Late onset combined immunodeficiency (LOCID) is a recently described variant of common variable immunodeficiency (CVID), involving adult patients presenting with opportunistic infections and/or low CD4+ lymphocyte counts. A 36-year-old male with unremarkable past medical history presented with fever, respiratory failure, and lymphocytopenia. He was found to have Pneumocystis jiroveci pneumonia (PJP), subsequently complicated by recurrent hospital-acquired Pseudomonas aeruginosa pneumonia and ...

  5. "Petrified ears" with idiopathic adult-onset pituitary insufficiency

    Directory of Open Access Journals (Sweden)

    Yashpal Gogate

    2012-01-01

    Full Text Available "Petrified ears" or calcification of auricular cartilage is an uncommonly reported condition. The most common causes of this phenomenon are local trauma, frost bite, and inflammation. Adrenal insufficiency is the most frequent systemic disease associated with auricular calcification. We present a case of idiopathic adult-onset pituitary insufficiency with hypocortisolism and bilateral auricular calcification. Recognition of the association between auricular calcification and adrenal insufficiency can be an important step toward the identification of a life-threatening cortisol deficiency.

  6. Vibration Therapy in Management of Delayed Onset Muscle Soreness (DOMS)

    OpenAIRE

    Veqar, Zubia; Imtiyaz, Shagufta

    2014-01-01

    Both athletic and nonathletic population when subjected to any unaccustomed or unfamiliar exercise will experience pain 24-72 hours postexercise. This exercise especially eccentric in nature caused primarily by muscle damage is known as delayed-onset muscle soreness (DOMS). This damage is characterized by muscular pain, decreased muscle force production, reduce range of motion and discomfort experienced. DOMS is due to microscopic muscle fiber tears. The presence of DOMS increases risk of inj...

  7. Long-term Outcomes of Childhood Onset Nephrotic Syndrome

    OpenAIRE

    Hjorten, Rebecca; Anwar, Zohra; Reidy, Kimberly Jean

    2016-01-01

    There are limited studies on long-term outcomes of childhood onset nephrotic syndrome (NS). A majority of children with NS have steroid-sensitive nephrotic syndrome (SSNS). Steroid-resistant nephrotic syndrome (SRNS) is associated with a high risk of developing end-stage renal disease. Biomarkers and analysis of genetic mutations may provide new information for prognosis in SRNS. Frequently relapsing and steroid-dependent NS is associated with long-term complications, including dyslipidemia, ...

  8. Diagnosis of Late Stage, Early Onset, Small Fiber Polyneuropathy

    Science.gov (United States)

    2016-10-01

    additionally discovered SFPN that affects adolescents and adults [2]. This early-onset SFPN usually begins in adolescence or early adulthood but can...promote early diagnosis. What was the impact on other disciplines? Nothing to report. What was the impact on technology transfer? Nothing to report...What was the impact on society beyond science and technology ? As described above, Veterans’ health and, by extension, public health will be

  9. Delaying Onset of Dementia: Are Two Languages Enough?

    OpenAIRE

    Morris Freedman; Suvarna Alladi; Howard Chertkow; Ellen Bialystok; Craik, Fergus I.M.; Phillips, Natalie A.; Vasanta Duggirala; Surampudi Bapi Raju; Bak, Thomas H

    2014-01-01

    There is an emerging literature suggesting that speaking two or more languages may significantly delay the onset of dementia. Although the mechanisms are unknown, it has been suggested that these may involve cognitive reserve, a concept that has been associated with factors such as higher levels of education, occupational status, social networks, and physical exercise. In the case of bilingualism, cognitive reserve may involve reorganization and strengthening of neural networks that enhance e...

  10. Outcome and risk factors of early onset severe preeclampsia

    Institute of Scientific and Technical Information of China (English)

    GONG Yun-hui; JIA Jin; L(U) Dong-hao; DAI Li; BAI Yi; ZHOU Rong

    2012-01-01

    Background Early onset severe preeclampsia is a specific type of severe preeclampsia,which causes high morbidity and mortality of both mothers and fetus.This study aimed to investigate the clinical definition,features,treatment,outcome and risk factors of early onset severe preaclampsia in Chinese women.üMethods Four hundred and thirteen women with severe preeclampsia from June 2006 to June 2009 were divided into three groups according to the gestational age at the onset of preeclampsia as follows:group A (less than 32 weeks,73 cases),group B (between 32 and 34 weeks,71 cases),and group C (greater than 34 weeks,269 cases).The demographic characteristics of the subjects,complications,delivery modes and outcome of pregnancy were analyzed retrospectively.üResults The systolic blood pressure at admission and the incidence of severe complications were significantly lower in group C than those in groups A and B,prolonged gestational weeks and days of hospitalization were significantly shorter in group C than those in groups A and B.Liver and kidney dysfunction,pleural and peritoneal effusion,placental abruption and postpartum hemorrhage were more likely to occur in group A compared with the other two groups.Twenty-four-hour urine protein levels at admission,intrauterine fetal death and days of hospitalization were risk factors that affected complications of severe preeclampsia.Gestational week at admission and delivery week were also risk factors that affected perinatal outcome.Conclusions Early onset severe preeclampsia should be defined as occurring before 34 weeks,and it is featured by more maternal complications and a worse perinatal prognosis compared with that defined as occurring after 34 weeks.Independent risk factors should be used to tailor the optimized individual treatment plan,to balance both maternal and neonatal safety.

  11. Adult-Onset Acquired Partial Lipodystrophy Accompanied by Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Yusuke Muto

    2015-04-01

    Full Text Available Lipodystrophy is a group of metabolic disorders, possibly caused by autoimmune disease. In this report, we describe a case of adult-onset acquired partial lipodystrophy accompanied by rheumatoid arthritis without a family history. Interestingly, immunohistochemical staining revealed dense infiltration of IL-27-producing cells as well as MMP-7- and MMP-28-expressing cells, both of which have been reported to facilitate the development of autoimmune disease. Our present case might suggest possible mechanisms for acquired partial lipodystrophy.

  12. Persistent Acute Onset Macroglossia Treated with Compression Therapy

    Directory of Open Access Journals (Sweden)

    Sean M. Johnson

    2017-01-01

    Full Text Available Acute macroglossia, while rare and often limited in duration, can present significant management challenges. The anatomic position of the tongue, which can result in airway compromise in cases of enlargement, contributes significantly to difficulty with management. We review several management options for persistent acute onset lingual macroglossia and present a novel noninvasive management technique in a case which was refractory to several strategies.

  13. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    Science.gov (United States)

    2017-04-01

    focus toward identification of Alzheimer disease (AD) risk genes over the past five years has been testing the common disease common variant (CDCV...hypothesis through the use of genome-wide association studies (GWAS) in late onset Alzheimer disease (LOAD). While common variation clearly plays a role...12-25 4 INTRODUCTION: The primary focus in the identification of Alzheimer disease (AD) risk genes has focused on the common disease

  14. On the Onset of HF-Induced Airglow at HAARP

    Science.gov (United States)

    2007-11-02

    AFRL-VS-HA-TR-2005-1061 JOURNAL OF GEOPHYSICAL RESEARCH, VOL. 109, A02305, doi:10.1029/2003JA010205, 2004 On the onset of HF-induced airglow at HAARP ...line) during the February 2002 campaign at the High Frequency Active Auroral Research Program ( HAARP ) heating facility are analyzed. We find that... HAARP , J. Geophys. Res., 109, A02305, doi: 10.1029/2003JA010205. 1. Introduction known as the parametric decay (PDI) or oscillating two- [2] A

  15. Late-onset Bochdalek's Hernia Associated with Severe Dyspnea

    OpenAIRE

    早川, 峰司; 丸藤, 哲; 森本, 裕二; 武山, 佳洋; 中村, 宏治; 古根, 高; 松原, 泉

    2001-01-01

    Late-onset Bochdalek's hernia is rare enough to be frequently diagnosed incorrectly. We present a case of lateonset Bochdalek's hernia associated with severe dyspnea and cyanosis. A 14-month-old female infant was admitted to our emergency clinic due to severe dyspnea and cyanosis. A chest radiogram and computed tomographic (CT) scan revealed a gastrointestinal shadow in the left thorax, necessitating emergency surgery that confirmed Bochdalek's hernia. Although left lung dysplasia was observe...

  16. Adult-onset Leigh′s disease: A rare entity

    Directory of Open Access Journals (Sweden)

    Shaik Afshan Jabeen

    2016-01-01

    Full Text Available Leigh syndrome (LS is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syndrome with severe metabolic acidosis and who subsequently showed dramatic clinical and neuroradiological improvement.

  17. Pure Red Cell Aplasia with Adult Onset Still's Disease

    OpenAIRE

    Nicholas Robillard; Paul Nguyen; Robert Wistaff; Mikhael Laskine

    2013-01-01

    Adult Onset Still’s Disease (AOSD) is a rare inflammatory syndrome mostly seen in young adults. Known for its wide range of clinical manifestations, AOSD often presents with nonremitting systemic signs and symptoms. Many rare case associations have been described with AOSD, but only few with pure red cell aplasia (PRCA). We are presenting a fourth known case of a young female adult with AOSD and PRCA in the literature.

  18. Interleukin-1 antagonism in type 1 diabetes of recent onset

    DEFF Research Database (Denmark)

    Moran, Antoinette; Bundy, Brian; Becker, Dorothy J

    2013-01-01

    Innate immunity contributes to the pathogenesis of autoimmune diseases, such as type 1 diabetes, but until now no randomised, controlled trials of blockade of the key innate immune mediator interleukin-1 have been done. We aimed to assess whether canakinumab, a human monoclonal anti-interleukin-1...... antibody, or anakinra, a human interleukin-1 receptor antagonist, improved β-cell function in recent-onset type 1 diabetes....

  19. Onset of Propagation of Planar Cracks in Heterogeneous Media

    OpenAIRE

    Ramanathan, Sharad; Fisher, Daniel S.

    1997-01-01

    The dynamics of planar crack fronts in hetergeneous media near the critical load for onset of crack motion are investigated both analytically and by numerical simulations. Elasticity of the solid leads to long range stress transfer along the crack front which is non-monotonic in time due to the elastic waves in the medium. In the quasistatic limit with instantaneous stress transfer, the crack front exhibits dynamic critical phenomenon, with a second order like transition from a pinned to a mo...

  20. Effect of a postnatal high-fat diet exposure on puberty onset, estrous cycle regularity, and kisspeptin expression in female rats

    DEFF Research Database (Denmark)

    Lie, Maria Elena Klibo; Overgaard, Agnete; Mikkelsen, Jens D

    2013-01-01

    Kisspeptin, encoded by Kiss1, plays a key role in pubertal maturation and reproduction as a positive upstream regulator of the hypothalamic-pituitary-gonadal (HPG) axis. To examine the role of high-fat diet (HFD) on puberty onset, estrous cycle regularity, and kisspeptin expression, female rats...... were exposed to HFD in distinct postnatal periods. Three groups of rats were exposed to HFD containing 60% energy from fat during the pre-weaning period (postnatal day (PND) 1-16, HFD PND 1-16), post-weaning period (HFD PND 21-34), or during both periods (HFD PND 1-34). Puberty onset, evaluated...... that postnatal HFD exposure induced irregular estrous cycles, but had no effect on puberty onset or kisspeptin....

  1. Delaying Onset of Dementia: Are Two Languages Enough?

    Science.gov (United States)

    Freedman, Morris; Alladi, Suvarna; Chertkow, Howard; Bialystok, Ellen; Craik, Fergus I. M.; Phillips, Natalie A.; Duggirala, Vasanta; Raju, Surampudi Bapi; Bak, Thomas H.

    2014-01-01

    There is an emerging literature suggesting that speaking two or more languages may significantly delay the onset of dementia. Although the mechanisms are unknown, it has been suggested that these may involve cognitive reserve, a concept that has been associated with factors such as higher levels of education, occupational status, social networks, and physical exercise. In the case of bilingualism, cognitive reserve may involve reorganization and strengthening of neural networks that enhance executive control. We review evidence for protective effects of bilingualism from a multicultural perspective involving studies in Toronto and Montreal, Canada, and Hyderabad, India. Reports from Toronto and Hyderabad showed a significant effect of speaking two or more languages in delaying onset of Alzheimer's disease by up to 5 years, whereas the Montreal study showed a significant protective effect of speaking at least four languages and a protective effect of speaking at least two languages in immigrants. Although there were differences in results across studies, a common theme was the significant effect of language use history as one of the factors in determining the onset of Alzheimer's disease. Moreover, the Hyderabad study extended the findings to frontotemporal dementia and vascular dementia. PMID:24959001

  2. Seasonal variation in the onset of acute pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Massimo Gallerani; Benedetta Boari; Raffaella Salmi; Roberto Manfredini

    2004-01-01

    AIM: A circannual variation in the onset of several acute diseases,mostly dealing with cardiovascular system, has been reported.The present study was to verify the possible existence of a seasonal variability in the onset of acute pancreatitis.METHODS: All patients consecutively admitted to the Hospital of Ferrara, Italy, between January 1998 to December 2002,whose discharge diagnosis was acute pancreatitis, were considered. According to the time of admission, cases were categorized into twelve 1-mo intervals and in four periods by season. x2 test for goodness of fit and partial Fourier series were used for statistical analysis.RESULTS: During the study period, 549 cases of acute pancreatitis were observed. A significant peak of higher incidence was found in March-May, both for total population,males and subgroups with and without cholelithiasis or alcoholism. Fourier analysis showed the existence of a circannual rhythmic pattern with its main peak in March (95%C.L.: February-April, P = 0.005), and a secondary one in September. Death occurred more frequently in DecemberFebruary, compared to the other periods (P = 0.029), and chronobiologic analysis yielded a seasonal peak in NovemberDecember (P<0.001).CONCLUSION: This study shows the existence of a circannual variation in the onset of acute pancreatitis, with a significanty higher frequency of events in the spring, especially for patients with cholelithiasis or alcoholism. Moreover, events occurring during the colder months seem to be characterized by a higher mortality rate.

  3. Temporomandibular disorders in fibromyalgia patients: are there different pain onset?

    Directory of Open Access Journals (Sweden)

    Fábio J. C. Fujarra

    2016-03-01

    Full Text Available ABSTRACT Objective To identify temporomandibular disorders (TMD symptoms in two groups of fibromyalgia patients according to the temporal relation between the onset of facial pain (FP and generalized body pain (GBP. Cross-sectional study design: Fifty-three consecutive women with fibromyalgia and FP were stratified according to the onset of orofacial pain: Group-A (mean age 47.30 ± 14.20 years old, onset of FP preceded GBP; Group-B (mean age 51.33 ± 11.03 years old, the FP started concomitant or after GBP. Clinical assessment Research Diagnostic Criteria for Temporomandibular Disorders and the Visual Analogue Scale. Results Myofascial pain with mouth opening limitation (p = 0.038; right disc displacement with reduction (p = 0.012 and jaw stiffness (p = 0.004 were predominant in Group A. Myofascial pain without mouth opening limitation (p = 0.038 and numbness/burning were more common in Group B. Conclusion All patients had temporomandibular joint symptoms, mainly muscle disorders. The prevalence of myofascial pain with limited mouth opening and right TMJ disc displacement with reduction were higher in Group A.

  4. Feeding Modalities and the Onset of the Neonatal Abstinence Syndrome

    Directory of Open Access Journals (Sweden)

    Anthony eLiu

    2015-02-01

    Full Text Available AbstractBreast milk has been reported to ameliorate the severity and outcome of neonatal abstinence syndrome (NAS. The mechanism of this beneficial effect of breast milk on NAS remains unclear, as the negligible amount of methadone transmitted via breast milk is unlikely to have an impact on NAS. The aim of this study was to compare the impact of different feeding modalities on the onset of NAS.A retrospective medical record review was conducted on one hundred and ninety-four methadone maintained mother/infant dyads. Infants were categorized on the first 2 days of life as predominantly breastfed, fed expressed human breast milk or formula fed. The feeding categories were then analyzed using the onset of NAS as the outcome measure. After adjusting for confounders, there was no significant effect of the modality of feeding on the rates of NAS requiring treatment (p=0.11. Breastfeeding significantly delayed the onset of NAS (p=0.04The act of breastfeeding in the first two days of life had no effect on whether an infant required treatment for NAS when compared to those fed EBM or formula. This only suggests that the advantages of breastfeeding on NAS cannot be substantiated in a small cohort and should not discourage breastfeeding.

  5. Adult onset Hallervorden-Spatz disease with psychotic symptoms.

    Science.gov (United States)

    del Valle-López, Pilar; Pérez-García, Rosa; Sanguino-Andrés, Rosa; González-Pablos, Emilio

    2011-01-01

    Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. Its onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomal pattern. In the majority of the patients reported, a mutation of the gene that encodes the pantothenate kinase (PANK2) located in the 20p13-p12.3 chromosome that causes iron storage in the basal ganglia of the brain has been found. Its diagnosis is based on clinical symptoms as well as specific MRI imaging findings. The most common psychiatric features are cognitive impairment as well as depressive symptoms. There are few documented cases with psychotic disorders. We present the case of a patient with late onset Hallervorden-Spatz disease and psychotic symptoms that preceded the development of neurological manifestations. The pathophysiology and the treatment of psychotic symptomatology are presented and discussed. Key words: Psicosis, Hallervorden-Spatz, late onset, Basal ganglia.

  6. Delaying Onset of Dementia: Are Two Languages Enough?

    Directory of Open Access Journals (Sweden)

    Morris Freedman

    2014-01-01

    Full Text Available There is an emerging literature suggesting that speaking two or more languages may significantly delay the onset of dementia. Although the mechanisms are unknown, it has been suggested that these may involve cognitive reserve, a concept that has been associated with factors such as higher levels of education, occupational status, social networks, and physical exercise. In the case of bilingualism, cognitive reserve may involve reorganization and strengthening of neural networks that enhance executive control. We review evidence for protective effects of bilingualism from a multicultural perspective involving studies in Toronto and Montreal, Canada, and Hyderabad, India. Reports from Toronto and Hyderabad showed a significant effect of speaking two or more languages in delaying onset of Alzheimer’s disease by up to 5 years, whereas the Montreal study showed a significant protective effect of speaking at least four languages and a protective effect of speaking at least two languages in immigrants. Although there were differences in results across studies, a common theme was the significant effect of language use history as one of the factors in determining the onset of Alzheimer’s disease. Moreover, the Hyderabad study extended the findings to frontotemporal dementia and vascular dementia.

  7. Antihypertensive therapy, new-onset diabetes, and cardiovascular disease

    Science.gov (United States)

    Basile, J N

    2009-01-01

    Type 2 diabetes mellitus is a worldwide epidemic with considerable health and economic consequences. Diabetes is an important risk factor for cardiovascular disease, which is the leading cause of death in diabetic patients, and decreasing the incidence of diabetes may potentially reduce the burden of cardiovascular disease. This article discusses the clinical trial evidence for modalities associated with a reduction in the risk of new-onset diabetes, with a focus on the role of antihypertensive agents that block the renin–angiotensin system. Lifestyle interventions and the use of antidiabetic, anti-obesity, and lipid-lowering drugs are also reviewed. An unresolved question is whether decreasing the incidence of new-onset diabetes with non-pharmacologic or pharmacologic intervention will also lower the risk of cardiovascular disease. A large ongoing study is investigating whether the treatment with an oral antidiabetic drug or an angiotensin-receptor blocker will reduce the incidence of new-onset diabetes and cardiovascular disease in patients at high risk for developing diabetes. PMID:19220522

  8. Late-onset acute rejection after living donor liver transplantation

    Institute of Scientific and Technical Information of China (English)

    Nobuhisa Akamatsu; Yasuhiko Sugawara; Sumihito Tamura; Junichi Keneko; Yuichi Matsui; Kiyoshi Hasegawa; Masatoshi Makuuchi

    2006-01-01

    AIM: To investigate the incidence and risk factors of late-onset acute rejection (LAR) and to clarify the effectiveness of our immunosuppressive regime consisting of life-long administration of tacrolimus and steroids.METHODS: Adult living donor liver transplantation recipients (n = 204) who survived more than 6 mo after living donor liver transplantation were enrolled.Immunosuppression was achieved using tacrolimus and methylprednisolone. When adverse effects of tacrolimus were detected, the patient was switched to cyclosporine. Six months after transplantation,tacrolimus or cyclosporine was carefully maintained at a therapeutic level. The methylprednisolone dosage was maintained at 0.05 mg/kg per day by oral administration.Acute rejections that occurred more than 6 mo after the operation were defined as late-onset. The median followup period was 34 mo.RESULTS: LAR was observed in 15 cases (7%) and no chronic rejection was observed. The incidence of hyperlipidemia, chronic renal failure, new-onset posttransplantation diabetes, and deep fungal infection were 13%, 2%, 24%, and 17%, respectively. Conversion from tacrolimus to cyclosporine was required in 38 patients (19%). Multivariate analysis revealed that a cyclosporinebased regimen was significantly associated with LAR.CONCLUSION: Both LAR and drug-induced adverse events happen at a low incidence, supporting the safety and efficacy of the present immunosuppression regimen for living donor liver transplantation.

  9. Adult Onset Still's Disease and Rocky Mountain Spotted Fever

    Science.gov (United States)

    Persad, Paul; Patel, Rajendrakumar; Patel, Niki

    2010-01-01

    Adult Still's Disease was first described in 1971 by Bywaters in fourteen adult female patients who presented with symptoms indistinguishable from that of classic childhood Still's Disease (Bywaters, 1971). George Still in 1896 first recognized this triad of quotidian (daily) fevers, evanescent rash, and arthritis in children with what later became known as juvenile inflammatory arthritis (Still, 1990). Adult Onset Still's Disease (AOSD) is an inflammatory condition of unknown etiology characterized by an evanescent rash, quotidian fevers, and arthralgias. Numerous infectious agents have been associated with its presentation. This case is to our knowledge the first presentation of AOSD in the setting of Rocky Mountain Spotted Fever. Although numerous infectious agents have been suggested, the etiology of this disorder remains elusive. Nevertheless, infection may in fact play a role in triggering the onset of symptoms in those with this disorder. Our case presentation is, to our knowledge, the first case of Adult Onset Still's Disease associated with Rocky Mountain spotted fever (RMSF). PMID:20811570

  10. Adult Onset Still's Disease and Rocky Mountain Spotted Fever

    Directory of Open Access Journals (Sweden)

    Paul Persad

    2010-01-01

    Full Text Available Adult Still's Disease was first described in 1971 by Bywaters in fourteen adult female patients who presented with symptoms indistinguishable from that of classic childhood Still's Disease (Bywaters, 1971. George Still in 1896 first recognized this triad of quotidian (daily fevers, evanescent rash, and arthritis in children with what later became known as juvenile inflammatory arthritis (Still, 1990. Adult Onset Still's Disease (AOSD is an inflammatory condition of unknown etiology characterized by an evanescent rash, quotidian fevers, and arthralgias. Numerous infectious agents have been associated with its presentation. This case is to our knowledge the first presentation of AOSD in the setting of Rocky Mountain Spotted Fever. Although numerous infectious agents have been suggested, the etiology of this disorder remains elusive. Nevertheless, infection may in fact play a role in triggering the onset of symptoms in those with this disorder. Our case presentation is, to our knowledge, the first case of Adult Onset Still's Disease associated with Rocky Mountain spotted fever (RMSF.

  11. Value and limitations of seizure semiology in localizing seizure onset.

    Science.gov (United States)

    So, Elson L

    2006-08-01

    Seizure semiology has been the foundation of clinical diagnosis of seizure disorders. This article discusses the value and the limitations of behavioral features of seizure episodes in localizing seizure onset. Studies have shown that some semiologic features of seizures are highly accurate in the hemispheric lateralization and lobar localization of seizures. There is good agreement between blinded reviewers in lateralizing video-recorded seizures in temporal lobe and extratemporal lobe epilepsies. However, seizure semiology alone should not be used to determine the site of seizure onset. Each semiologic feature may falsely localize seizure onset. Seizure semiology in some patients may signify the site of seizure propagation rather than origination. Moreover, seizure semiology may not be as reliable in multifocal epilepsies as it is in unifocal epilepsies. Many semiologic features of seizures of adults are often missing in seizures of children. Seizure semiology should be analyzed and integrated with EEG and neuroimaging data to localize the seizure focus. A sample of the recorded seizures should be shown to the patient's relatives or friends to verify that it is representative of habitual seizures.

  12. Sox7-sustained expression alters the balance between proliferation and differentiation of hematopoietic progenitors at the onset of blood specification.

    Science.gov (United States)

    Gandillet, Arnaud; Serrano, Alicia G; Pearson, Stella; Lie-A-Ling, Michael; Lacaud, Georges; Kouskoff, Valerie

    2009-11-26

    The molecular mechanisms that regulate the balance between proliferation and differentiation of precursors at the onset of hematopoiesis specification are poorly understood. By using a global gene expression profiling approach during the course of embryonic stem cell differentiation, we identified Sox7 as a potential candidate gene involved in the regulation of blood lineage formation from the mesoderm germ layer. In the present study, we show that Sox7 is transiently expressed in mesodermal precursors as they undergo specification to the hematopoietic program. Sox7 knockdown in vitro significantly decreases the formation of both primitive erythroid and definitive hematopoietic progenitors as well as endothelial progenitors. In contrast, Sox7-sustained expression in the earliest committed hematopoietic precursors promotes the maintenance of their multipotent and self-renewing status. Removal of this differentiation block driven by Sox7-enforced expression leads to the efficient differentiation of hematopoietic progenitors to all erythroid and myeloid lineages. This study identifies Sox7 as a novel and important player in the molecular regulation of the first committed blood precursors. Furthermore, our data demonstrate that the mere sustained expression of Sox7 is sufficient to completely alter the balance between proliferation and differentiation at the onset of hematopoiesis.

  13. Inactivation of AP1 proteins by a nuclear serine protease precedes the onset of radiation-induced fibrosing alveolitis.

    Science.gov (United States)

    Haase, Michael G; Klawitter, Anke; Bierhaus, Angelika; Yokoyama, Kazunari K; Kasper, Michael; Geyer, Peter; Baumann, Michael; Baretton, Gustavo B

    2008-05-01

    Radiation-induced lung damage comprises inflammation (alveolitis) as well as disturbed regulation of cell differentiation and proliferation (fibrosis). The transcriptional regulation of this process is poorly understood. One key transcription factor involved in the regulation of proliferation and differentiation is AP1 (activator protein 1). The present study examined changes in the DNA-binding activity of AP1 after irradiation and defined the underlying molecular mechanisms in an animal model. The right lungs of Fischer rats received a single radiation dose of 20 Gy. Lung tissue was tested for AP1 DNA-binding activity, AP1 mRNA, and levels of AP1 proteins as well as for c-Jun specific proteolytic activity. After an initial increase, the AP1 DNA-binding activity was completely lost starting at 5.5 weeks after irradiation, which is 2.5 weeks before the onset of fibrosing alveolitis. This was not caused by reduction of mRNA levels or size. Instead, a selective nuclear cleavage of c-Jun by a serine protease caused the loss of AP1 activity. Considering the central role of AP1 in cell proliferation and differentiation and the strict timely correlation to the onset of the disease, the complete loss of AP1 function is likely to play a critical role in radiation-induced fibrosing alveolitis.

  14. Risk factors for nephrotoxicity onset associated with polymyxin B therapy.

    Science.gov (United States)

    Dubrovskaya, Yanina; Prasad, Nishant; Lee, Yuman; Esaian, Diana; Figueroa, Deborah A; Tam, Vincent H

    2015-01-01

    Polymyxin B is an active agent against many MDR Gram-negative bacteria, but nephrotoxicity is a major hindrance to its widespread use. To guide its optimal use, we determined the risk factors for nephrotoxicity onset associated with polymyxin B. In a multicentre, retrospective, cohort study, we evaluated adult patients with normal renal function who received ≥72 h of polymyxin B therapy. Pertinent information was retrieved from medical records; patients were followed for up to 30 days after therapy was started. The primary endpoint of this study was the onset of nephrotoxicity. A Cox proportional hazards model was used for analysis. A total of 192 patients (52.1% male, 67.7% Caucasian) were evaluated. The mean ± SD age, actual body weight (ABW) and daily dose by ABW were 68.3 ± 17.2 years, 71.5 ± 20.4 kg and 1.5 ± 0.5 mg/kg, respectively. The median duration of therapy was 9.5 days. The overall prevalence rate of nephrotoxicity was 45.8% and the median onset of nephrotoxicity was 9 days. Independent risk factors for the onset of nephrotoxicity included daily dose by ABW (HR = 1.73; P = 0.022), concurrent use of vancomycin (HR = 1.89; P = 0.005) and contrast media (HR = 1.79; P = 0.009). Nephrotoxicity was seen earlier in the high-risk group (P = 0.003). Risk factors for nephrotoxicity onset associated with polymyxin B were identified. In conjunction with susceptibility and other pharmacokinetic/pharmacodynamic data, our results can be used to optimize treatment for MDR Gram-negative infections. © The Author 2015. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  15. Adult Onset Vitiligo: Multivariate Analysis Suggests the Need for a Thyroid Screening.

    Science.gov (United States)

    Lazzeri, L; Colucci, R; Cammi, A; Dragoni, F; Moretti, S

    2016-01-01

    Background. There are limited epidemiological studies evaluating the effect of age at onset on disease features in vitiligo. Objectives. To identify factors associated with adult onset vitiligo in comparison with childhood onset vitiligo. Patients and Methods. We retrospectively collected medical records of 191 patients. Such records included clinical examination, personal and familial medical history, laboratory evaluations, concomitant vitiligo treatment and drug assumption. Results. 123 patients with a disease onset after the age of 40 (adult onset vitiligo) were compared with 68 patients who developed vitiligo before the age of 12 (childhood onset vitiligo). Multivariate analysis revealed that personal history of thyroid diseases (P = 0.04; OR 0.4), stress at onset (P = 0.002; OR = 0.34), personal history of autoimmune thyroid disease (ATD) (P = 0.003; OR = 0.23), and thyroid nodules (P = 0.001; OR 0.90) were independently associated with adult onset vitiligo, whereas family history of dermatological diseases (P = 0.003; OR = 2.87) and Koebner phenomenon (P < 0.001; OR = 4.73) with childhood onset vitiligo. Moreover, in the adult onset group, concomitant thyroid disease preceded vitiligo in a statistically significant number of patients (P = 0.014). Conclusions. Childhood onset and adult onset vitiligo have different clinical features. In particular, ATD and thyroid nodules were significantly associated with adult onset vitiligo, suggesting that a thyroid screening should be recommended in this group of patients.

  16. Diabetic ketoacidosis at the onset of type 1 diabetes is associated with future HbA1c levels

    DEFF Research Database (Denmark)

    Fredheim, Siri; Johannesen, J; Johansen, A

    2013-01-01

    AIMS/HYPOTHESIS: We investigated the long-term impact of diabetic ketoacidosis (DKA) at onset on metabolic regulation and residual beta cell function in a Danish population with type 1 diabetes. METHODS: The study is based on data from DanDiabKids, a Danish national diabetes register for children....... The register provides clinical and biochemical data on patients with type 1 diabetes diagnosed in 1996-2009 and then followed-up until 1 January 2012. Repeated-measurement models were used as statistical methods. RESULTS: The study population comprised 2,964 children...

  17. Revision of the ADA-classification of diabetes mellitus type 2 (DMT2): the importance of maturity onset diabetes (MOD), and senile diabetes (DS).

    Science.gov (United States)

    Vacante, Marco; Malaguarnera, Michele; Motta, Massimo

    2011-01-01

    The changing social and economic conditions and the increase of the life span induced a progressive increase of the general prevalence of DMT2, particularly in the elderly population of the highly evoluted countries. Up to now 18 genetic loci have been identified, each of them consisting of several single nucleotide polymorphisms (SNPs). The evidence that the DMT2 is regulated by a high number of genes, demonstrate the pathogenetic complexity of this disease. The onset of diabetes mellitus (DM) in medium age is a consequence of the breakdown of the glycemic homeostasis in correlation with the genetic factors, such as the variants of the TCF7L2, obesity, etc., and the environmental factors, such as the life-style, the evolution of chronic-degenerative diseases, etc. In case of DM that onsets in old age we have to add the deterioration of the anti-aging defense mechanisms, characterized by the antagonistic action of the genes of longevity and aging. One can observe several clinical and therapeutic differences; therefore, the authors of this review propose the reinsertion of three forms into the DMT2 correlated with the age of onset and with the actual age of the subjects: the maturity onset diabetes (MOD), the maturity onset diabetes in elderly (MODE), and the senile diabetes (DS).

  18. [46-OR] : Early and late onset preeclampsia versus small for gestational age risks in subsequent pregnancies

    NARCIS (Netherlands)

    Bernardes, Thomas P; Mol, Ben W; Ravelli, Anita C; van den Berg, Paul P; Stolk, Ronald P; Groen, Henk

    OBJECTIVES: Current literature suggests that early and late onset preeclampsia should be treated as distinct entities and that early onset preeclampsia shares pathophysiology aspects with intrauterine growth restriction. Our objective was to investigate whether 5th percentile small for gestational

  19. Predictors of age at onset of tobacco and cannabis use in Danish adolescents

    DEFF Research Database (Denmark)

    Wium-Andersen, Ida Kim; Wium-Andersen, Marie Kim; Becker, Ulrik

    2010-01-01

    Early onset of tobacco and cannabis use predicts later substance abuse and risk behaviour and has large health consequences.......Early onset of tobacco and cannabis use predicts later substance abuse and risk behaviour and has large health consequences....

  20. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

    Science.gov (United States)

    ... myopathy with early-onset Paget disease and frontotemporal dementia Enable Javascript to view the expand/collapse boxes. ... myopathy with early-onset Paget disease and frontotemporal dementia ( IBMPFD ) is a condition that can affect the ...

  1. Children's parasympathetic reactivity to specific emotions moderates response to intervention for early-onset aggression.

    Science.gov (United States)

    Gatzke-Kopp, Lisa M; Greenberg, Mark; Bierman, Karen

    2015-01-01

    Following theories that individual differences in respiratory sinus arrhythmia (RSA) denote differential sensitivity to environmental influences, this study examines whether differences in RSA reactivity to specific emotional challenges predict differential response to intervention. We present data from a randomized clinical trial of a targeted intervention for early onset aggression. In collaboration with a high-risk urban school district, 207 kindergarten children (73% African American, 66% male), identified by their teachers as having high levels of aggressive and disruptive behavior, were recruited. All children received a universal social-emotional curriculum. One hundred children were randomly assigned to an additional intervention consisting of weekly peer-based social skills training. Complete RSA data were available for 139 of the children. Teacher-reported externalizing symptoms and emotion regulation in 1st grade (post intervention) were examined controlling for baseline levels. First-grade peer nominations of aggressive behavior, controlling for baseline nominations, were also examined as outcomes. No effect of resting RSA was found. However, greater reactivity to anger was associated with higher externalizing symptoms and lower emotion regulation skills in 1st grade relative to low reactive children. Lower reactivity to fear was associated with greater improvement over time, an effect that was enhanced in the targeted intervention condition. Results suggest that measures of affective reactivity may provide insight into children's capacity to benefit from different types of interventions.

  2. The Wave-Like Auroral Structure around Auroral Expansion Onset

    Institute of Scientific and Technical Information of China (English)

    TANG Chao-Ling

    2011-01-01

    We present the direct connection between the wave-like auroral structure around the time of auroral expansion onset and the ballooning mode waves in the near-Earth magnetotail. Based on the NASA mission time history of events and macroscale interactions during substorms (THEMIS) ground-based all-sky imagers, we show that around the time of auroral expansion onset, a wave-like auroral structure first has four luminosity peaks separated by 2-3° magnetic longitude (MLON). Subsequently, the wave-like structure propagates in the azimuthal direction and an overall bright arc spans approximately 1 h magnetic local time. The wavelength is estimated to be 120-180 km. Finally, a noticeable poleward auroral expansion is observed. The ballooning mode waves are identified by two THEMIS probes in the near-Earth magnetotail. The observed wavelength of the ballooning mode waves is approximately equal to the order of the ion Larmor radius. The wavelength of 1500 3000 km in the near-Earth magnetotail is comparable with the wave-like auroral structure estimate. This study suggests that the ballooning mode waves might play a crucial role in auroral expansion onset, corresponding to the wave-like auroral structure in this study.%We present the direct connection between the wave-like auroral structure around the time of auroral expansion onset and the ballooning mode waves in the near-Earth magnetotail.Based on the NASA mission time history of events and macroscale interactions during substorms (THEMIS) ground-based all-sky imagers,we show that around the tirne of auroral expansion onset,a wave-like auroral structure first has four luminosity peaks separated by 2-3° magnetic longitude (MLON).Subsequently,the wave-like structure propagates in the azimuthal direction and an overall bright arc spans approximately 1 h magnetic local time.The wavelength is estimated to be 120-180 km.Finally,a noticeable poleward auroral expansion is observed.The ballooning mode waves are identified by two

  3. Stathmin is dispensable for tumor onset in mice.

    Science.gov (United States)

    D'Andrea, Sara; Berton, Stefania; Segatto, Ilenia; Fabris, Linda; Canzonieri, Vincenzo; Colombatti, Alfonso; Vecchione, Andrea; Belletti, Barbara; Baldassarre, Gustavo

    2012-01-01

    The microtubule-destabilizing protein stathmin is highly expressed in several types of tumor, thus deserving the name of oncoprotein 18. High levels of stathmin expression and/or activity favor the metastatic spreading and mark the most aggressive tumors, thus representing a realistic marker of poor prognosis. Stathmin is a downstream target of many signaling pathways, including Ras-MAPK, PI3K and p53, involved in both tumor onset and progression. We thus hypothesized that stathmin could also play a role during the early stages of tumorigenesis, an issue completely unexplored. In order to establish whether stathmin expression is necessary for tumor initiation, we challenged wild type (WT), stathmin heterozygous and stathmin knock-out (KO) mice with different carcinogens. Using well-defined mouse models of carcinogenesis of skin, bladder and muscle by the means of 7,12-dimethylbenz[α]antracene (DMBA)/12-O-tetradecanoylphorbol-13-acetate (TPA), N-butyl-N-(4-hydroxybutyl) nitrosamine (BBN) and 3-methylcholanthrylene (3MC) treatments, respectively, we demonstrated that knock-out of stathmin has no impact on the onset of cancer in mice. No significant difference was noticed either when the Ras oncogene was mutated (skin carcinogenesis model) or when the p53 pathway was inactivated (bladder carcinomas and fibrosarcomas). Finally, we concomitantly impinged on p53 and Ras pathways, by generating WT and stathmin KO mouse embryo fibroblasts transformed with papilloma virus large T antigen (LgTAg) plus the K-Ras(G12V) oncogene. In vivo growth of xenografts from these transformed fibroblasts did not highlight any significant difference depending on the presence or absence of stathmin. Overall, our work demonstrates that stathmin expression is dispensable for tumor onset, at least in mice, thus making stathmin a virtually exclusive marker of aggressive disease and a promising therapeutic target for advanced cancers.

  4. Parkin gene mutations in younger onset Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    Piu Chan; Hua Bai; Rong Chen; J Willian Langston

    2000-01-01

    Objective': To screen for exonic and point mutations in the Parkin gene in both Chinese and American Caucasian younger onset Parkinson's disease (YOPD) patients.Background: Recently, the Autosomal recessive juvenile parkinsonism (ARJP) gene was first mapped to chromosome 6q25.2-27 and was late cloned and designated as Parkin. A wide variety of mutations, including homozygous exonic deletions and point mutations,have been found in at least more than 50 ARJP families of Japanese, European and Jewish origins. However, the distribution of Parkin gene mutations is not known in the Chinese and American Caucasians, It is also not clear how frequent the Parkin gene mutations occur in YOPD patients. Method and Material: Twenty-one Chinese subjects were selected from 121 Chinese PD inpatients who were admitted to the Xuanwu Hospital in Beijing between August of 1998 and April of 1999 and had an onset before age 51. Thirty-eight American subjects were PD patients with an onset before age 41 from the Tissue Bank of the Parkinson′s Institute at California. Homozygous exonic deletion and point mutations in all 12 exons of the Parkin gene were screened using PCR, SSCP and direct sequencing methods. Mutations identified by sequencing were further confirmed by restriction enzyme digestion. Results: Five different types of homozygous deletion mutations (exons 1, 4, 6, 7 and 12) were found in 7 out of 21 Chinese cases but none of the 37 American Caucasian patients in all 12 exons of Parkin gene. One novel and four polymorphic mutationswere found in the American Caucasian YOPD cases.Conclusion: our results suggest that homozygous exonic deletions in the Parkin gene may account for a significant amount of YOPD in the Chinese but not in the American Caucasian YOPD.

  5. Early onset of fesoterodine efficacy in subjects with overactive bladder.

    Science.gov (United States)

    Goldman, Howard B; Morrow, Jon D; Gong, Jason; Tseng, Li-Jung; Schneider, Tim

    2011-02-01

    To assess the onset of efficacy of fesoterodine 4 mg once daily on overactive bladder (OAB) symptoms after 1 week of treatment. This was a prespecified analysis of data collected during the first week of a 12-week, open-label, single-arm, flexible-dose study of fesoterodine. Eligible subjects were adult men and women (aged ≥ 18 years) who reported urinary frequency (eight or more micturitions per 24 h) and urgency (three or more episodes per 24 h) in 5-day bladder diaries at baseline, and dissatisfaction with previous tolterodine or tolterodine extended-release treatment received within 2 years of screening. All subjects received fesoterodine 4 mg once daily during the first 4 weeks of treatment (with an optional dose increase to fesoterodine 8 mg after week 4). Early onset of efficacy of fesoterodine 4 mg was assessed based on changes from baseline to week 1 in variables recorded in 5-day bladder diaries, including total micturitions, urgency episodes, urgency urinary incontinence (UUI) episodes and nocturnal micturitions. Urgency and severe urgency episodes were defined as those rated ≥ 3 and ≥ 4, respectively, on the five-point Urinary Sensation Scale (USS) (1 = no urgency, 5 = UUI); frequency-urgency sum (a combined measure of micturition frequency and urgency) was defined as the sum of all USS ratings. All bladder diary variables, including total and nocturnal micturitions, UUI episodes, urgency episodes, severe urgency episodes and frequency-urgency sum per 24 h, were significantly improved (all P fesoterodine 4 mg compared to baseline. The diary-dry rate at week 1 (i.e. subjects with at least one UUI episode at baseline who subsequently reported no UUI episodes on week 1 diary) was 38%. In this open-label study of subjects with OAB who had been previously treated and dissatisfied with tolterodine, fesoterodine 4 mg showed a rapid onset of efficacy at 1 week. © 2010 THE AUTHORS. JOURNAL COMPILATION © 2010 BJU INTERNATIONAL.

  6. Early Onset of Selective Serotonin Reuptake Inhibitor Antidepressant Action

    Science.gov (United States)

    Taylor, Matthew J.; Freemantle, Nick; Geddes, John R.; Bhagwagar, Zubin

    2008-01-01

    Context: Selective serotonin reuptake inhibitors (SSRIs) are often described as having a delayed onset of effect in the treatment of depression. However, some trials have reported clinical improvement as early as the first week of treatment. Objective: To test the alternative hypotheses of delayed vs early onset of antidepressant action with SSRIs in patients with unipolar depression. Data Sources: Trials identified by searching CENTRAL, The Cochrane Collaboration database of controlled trials (2005), and the reference lists of identified trials and other systematic reviews. Study Selection: Randomized controlled trials of SSRIs vs placebo for the treatment of unipolar depression in adults that reported outcomes for at least 2 time points in the first 4 weeks of treatment (50 trials from >500 citations identified). Trials were excluded if limited to participants older than 65 years or specific comorbidities. Data Extraction: Data were extracted on trial design, participant characteristics, and outcomes by a single reviewer. Data Synthesis: Pooled estimates of treatment effect on depressive symptom rating scales were calculated for weeks 1 through 6 of treatment. In the primary analysis, the pattern of response seen was tested against alternative models of onset of response. The primary analysis incorporated data from 28 randomized controlled trials (n=5872). A model of early treatment response best fit the experimental data. Treatment with SSRIs rather than placebo was associated with clinical improvement by the end of the first week of use. A secondary analysis indicated an increased chance of achieving a 50% reduction in Hamilton Depression Rating Scale scores by 1 week (relative risk, 1.64; 95% confidence interval, 1.2-2.25) with SSRI treatment compared with placebo. Conclusions: Treatment with SSRIs is associated with symptomatic improvement in depression by the end of the first week of use, and the improvement continues at a decreasing rate for at least 6

  7. Stathmin is dispensable for tumor onset in mice.

    Directory of Open Access Journals (Sweden)

    Sara D'Andrea

    Full Text Available The microtubule-destabilizing protein stathmin is highly expressed in several types of tumor, thus deserving the name of oncoprotein 18. High levels of stathmin expression and/or activity favor the metastatic spreading and mark the most aggressive tumors, thus representing a realistic marker of poor prognosis. Stathmin is a downstream target of many signaling pathways, including Ras-MAPK, PI3K and p53, involved in both tumor onset and progression. We thus hypothesized that stathmin could also play a role during the early stages of tumorigenesis, an issue completely unexplored. In order to establish whether stathmin expression is necessary for tumor initiation, we challenged wild type (WT, stathmin heterozygous and stathmin knock-out (KO mice with different carcinogens. Using well-defined mouse models of carcinogenesis of skin, bladder and muscle by the means of 7,12-dimethylbenz[α]antracene (DMBA/12-O-tetradecanoylphorbol-13-acetate (TPA, N-butyl-N-(4-hydroxybutyl nitrosamine (BBN and 3-methylcholanthrylene (3MC treatments, respectively, we demonstrated that knock-out of stathmin has no impact on the onset of cancer in mice. No significant difference was noticed either when the Ras oncogene was mutated (skin carcinogenesis model or when the p53 pathway was inactivated (bladder carcinomas and fibrosarcomas. Finally, we concomitantly impinged on p53 and Ras pathways, by generating WT and stathmin KO mouse embryo fibroblasts transformed with papilloma virus large T antigen (LgTAg plus the K-Ras(G12V oncogene. In vivo growth of xenografts from these transformed fibroblasts did not highlight any significant difference depending on the presence or absence of stathmin. Overall, our work demonstrates that stathmin expression is dispensable for tumor onset, at least in mice, thus making stathmin a virtually exclusive marker of aggressive disease and a promising therapeutic target for advanced cancers.

  8. What do we know about Late Onset Huntington's Disease?

    Science.gov (United States)

    Chaganti, Sai S; McCusker, Elizabeth A; Loy, Clement T

    2017-01-01

    Although the typical age of onset for Huntington's disease (HD) is in the fourth decade, between 4.4-11.5% of individuals with HD have a late onset (over 60 years of age). Diagnosis of Late onset HD (LoHD) can be missed, due to the perceived low likelihood of HD in the over 60-year-olds. To review the epidemiology, genotype and phenotype of LoHD. We systematically searched MEDLINE, EMBASE and Web of Science (inception-November 2016). Web of Science was then used to search for papers citing identified studies. Content experts were consulted for any additional studies. We included all studies reporting the clinical phenotype of LoHD for more than one participant. 20 studies were identified from a potential list of 1243. Among Caucasian HD cohorts, 4.4-11.5% of individuals have LoHD, and this proportion may be increasing. Proportion of LoHD without a positive family history ranges from 3-68%. 94.4% of reported cases of LoHD had CAG repeat lengths of ≤44. Motor manifestations are the commonest initial presentation, although 29.2% presented with non-motor manifestations as the first clinical feature in one case series. Individuals with LoHD may have slower progression of illness. Cognitive impairment rather than chorea may be the major source of disability in this group. LoHD represents a substantial proportion of new diagnoses of HD and has some unique features. Further characterization of this population will aid clinicians in diagnosis.

  9. Mechanism of and threshold biomechanical conditions for falsetto voice onset.

    Directory of Open Access Journals (Sweden)

    Shinji Deguchi

    Full Text Available The sound source of a voice is produced by the self-excited oscillation of the vocal folds. In modal voice production, a drastic increase in transglottal pressure after vocal fold closure works as a driving force that develops self-excitation. Another type of vocal fold oscillation with less pronounced glottal closure observed in falsetto voice production has been accounted for by the mucosal wave theory. The classical theory assumes a quasi-steady flow, and the expected driving force onto the vocal folds under wavelike motion is derived from the Bernoulli effect. However, wavelike motion is not always observed during falsetto voice production. More importantly, the application of the quasi-steady assumption to a falsetto voice with a fundamental frequency of several hundred hertz is unsupported by experiments. These considerations suggested that the mechanism of falsetto voice onset may be essentially different from that explained by the mucosal wave theory. In this paper, an alternative mechanism is submitted that explains how self-excitation reminiscent of the falsetto voice could be produced independent of the glottal closure and wavelike motion. This new explanation is derived through analytical procedures by employing only general unsteady equations of motion for flow and solids. The analysis demonstrated that a convective acceleration of a flow induced by rapid wall movement functions as a negative damping force, leading to the self-excitation of the vocal folds. The critical subglottal pressure and volume flow are expressed as functions of vocal fold biomechanical properties, geometry, and voice fundamental frequency. The analytically derived conditions are qualitatively and quantitatively reasonable in view of reported measurement data of the thresholds required for falsetto voice onset. Understanding of the voice onset mechanism and the explicit mathematical descriptions of thresholds would be beneficial for the diagnosis and treatment

  10. Efficacy of Anakinra in Refractory Adult-Onset Still's Disease

    Science.gov (United States)

    Ortiz-Sanjuán, Francisco; Blanco, Ricardo; Riancho-Zarrabeitia, Leyre; Castañeda, Santos; Olivé, Alejandro; Riveros, Anne; Velloso-Feijoo, María.L.; Narváez, Javier; Jiménez-Moleón, Inmaculada; Maiz-Alonso, Olga; Ordóñez, Carmen; Bernal, José A.; Hernández, María V.; Sifuentes-Giraldo, Walter A.; Gómez-Arango, Catalina; Galíndez-Agirregoikoa, Eva; Blanco-Madrigal, Juan; Ortiz-Santamaria, Vera; del Blanco-Barnusell, Jordi; De Dios, Juan R.; Moreno, Mireia; Fiter, Jordi; Riscos, Marina de los; Carreira, Patricia; Rodriguez-Valls, María J.; González-Vela, M. Carmen; Calvo-Río, Vanesa; Loricera, Javier; Palmou-Fontana, Natalia; Pina, Trinitario; Llorca, Javier; González-Gay, Miguel A.

    2015-01-01

    Abstract Adult-onset Still's disease (AOSD) is often refractory to standard therapy. Anakinra (ANK), an interleukin-1 receptor antagonist, has demonstrated efficacy in single cases and small series of AOSD. We assessed the efficacy of ANK in a series of AOSD patients. Multicenter retrospective open-label study. ANK was used due to lack of efficacy to standard synthetic immunosuppressive drugs and in some cases also to at least 1 biologic agent. Forty-one patients (26 women/15 men) were recruited. They had a mean age of 34.4 ± 14 years and a median [interquartile range (IQR)] AOSD duration of 3.5 [2–6] years before ANK onset. At that time the most common clinical features were joint manifestations 87.8%, fever 78%, and cutaneous rash 58.5%. ANK yielded rapid and maintained clinical and laboratory improvement. After 1 year of therapy, the frequency of joint and cutaneous manifestations had decreased to 41.5% and to 7.3% respectively, fever from 78% to 14.6%, anemia from 56.1% to 9.8%, and lymphadenopathy from 26.8% to 4.9%. A dramatic improvement of laboratory parameters was also achieved. The median [IQR] prednisone dose was also reduced from 20 [11.3–47.5] mg/day at ANK onset to 5 [0–10] at 12 months. After a median [IQR] follow-up of 16 [5–50] months, the most important side effects were cutaneous manifestations (n = 8), mild leukopenia (n = 3), myopathy (n = 1), and infections (n = 5). ANK is associated with rapid and maintained clinical and laboratory improvement, even in nonresponders to other biologic agents. However, joint manifestations are more refractory than the systemic manifestations. PMID:26426623

  11. Early Onset Recurrent Subtype of Adolescent Depression: Clinical and Psychosocial Correlates

    Science.gov (United States)

    Hammen, Constance; Brennan, Patricia A.; Keenan-Miller, Danielle; Herr, Nathaniel R.

    2008-01-01

    Background: Evaluated trajectories of adolescent depression and their correlates in a longitudinal study of a community sample: early onset (by age 15) with major depression (MDE) recurrence between 15 and 20; early onset with no recurrence; later onset of major depression after age 15 with and without recurrence by 20; and never-depressed.…

  12. Late onset eating disorders in Spain: clinical characteristics and therapeutic implications

    OpenAIRE

    B. Bueno; Krug, Isabel; Bulik, C M; Jiménez-Murcia, Susana; Granero, Roser; Thornton, L.; Penelo, Eva; Menchón Magriñá, José Manuel; Sánchez, Isabel; Francisco J Tinahones; Fernández Aranda, Fernando

    2013-01-01

    OBJECTIVE: The literature on later age of onset (LAO) in women with eating disorders is scarce. We compared the severity of eating disorders, eating disorder subtype, and personality profiles in a clinical sample of consecutively assessed women with eating disorders with later age of onset (LAO, > = 25 years) to women with typical age of onset (TAO,

  13. Interruption from irrelevant auditory and visual onsets even when attention is in a focused state

    NARCIS (Netherlands)

    Lubbe, van der R.H.J.; Postma, A.

    2005-01-01

    The common view on the interplay between exogenous and endogenous orienting holds that abrupt onsets are not capable of attracting attention when they occur outside the current focus of attention. Does this also apply to sudden irrelevant auditory onsets and when irrelevant visual onsets occur far i

  14. Causes and outcomes of new onset status epilepticus and predictors of refractoriness to therapy.

    Science.gov (United States)

    Jayalakshmi, Sita; Vooturi, Sudhindra; Sahu, Sambit; Yada, Praveen Kumar; Mohandas, Surath

    2016-04-01

    We aimed to evaluate the determinants of outcome in new onset refractory status epilepticus (SE). A retrospective analysis of patients with new onset SE admitted between May 2005 and October 2013 was performed. Regression analysis was used to determine factors that affect progression of new onset SE to refractory status epilepticus (RSE) and mortality. Among 114 patients with new onset SE, 52 patients progressed to RSE. Sixty seven (58.7%) were men. New onset RSE patients were younger than new onset SE patients (mean 35.9 ± standard deviation18.2 versus 28.7 ± 20.2 years; p=0.050). Cryptogenic aetiology was the most significant determinant of progression of new onset SE to RSE (Exp [β]=5.68; p=0.001). The overall mortality in the entire group was 23.7%, significantly higher in new onset RSE group (40.4% versus 9.7%; pNew onset RSE patients with symptomatic and cryptogenic etiology did not differ for clinical characteristics and outcome. Acidosis was the strongest predictor of mortality in the entire cohort (Exp [β]=8.72; p=0.005). Nearly half of the patients with new onset SE progressed to RSE. While cryptogenic aetiology determined progression of new onset SE to RSE, acidosis was associated with mortality. The outcome was similar between symptomatic and cryptogenic new onset RSE.

  15. Dose finding of melatonin for chronic idiopathic childhood sleep onset insomnia: an RCT

    NARCIS (Netherlands)

    Geijlswijk, I.M. van; Heijden, K.B. van der; Egberts, A.C.G.; Korzilius, H.P.L.M.; Smits, M.G.

    2010-01-01

    Rationale Pharmacokinetics of melatonin in children might differ from that in adults. Objectives This study aims to establish a dose–response relationship for melatonin in advancing dim light melatonin onset (DLMO), sleep onset (SO), and reducing sleep onset latency (SOL) in children between 6 and 1

  16. Dose finding of melatonin for chronic idiopathic childhood sleep onset insomnia: an RCT.

    NARCIS (Netherlands)

    van Geijlswijk, I.M.; van der Heijden, K.B.; Egberts, A.C.G.; Korzilius, H.P.; Smits, M.G.

    2010-01-01

    RATIONALE: Pharmacokinetics of melatonin in children might differ from that in adults. OBJECTIVES: This study aims to establish a dose-response relationship for melatonin in advancing dim light melatonin onset (DLMO), sleep onset (SO), and reducing sleep onset latency (SOL) in children between 6 and

  17. Onset sequencing of selected lip muscles in stutterers and nonstutterers.

    Science.gov (United States)

    Guitar, B; Guitar, C; Neilson, P; O'Dwyer, N; Andrews, G

    1988-03-01

    The present study examined lip muscle activity during the speech production of stutterers and fluent speakers to provide information about the nature of stuttering blocks. Depressor Anguli Oris (DAO) and Depressor Labii Inferioris (DLI) were recorded, using hooked-wire electromyography (EMG), in 3 stutterers and 3 nonstutterers during productions of the words "peek", "puck", and "pack." EMG records indicated that nonstutterers activated DAO prior to DLI for production of the initial/p/. Stutterers frequently reversed this sequence of onset, particularly when they stuttered. Results are discussed in terms of mistiming versus anticipatory hypertension hypotheses about stuttering.

  18. Late-Onset Hypogonadism and Testosterone Replacement in Older Men.

    Science.gov (United States)

    Bhattacharya, Rajib K; Bhattacharya, Shelley B

    2015-11-01

    Late-onset hypogonadism is an underdiagnosed and easily treated condition defined by low serum testosterone levels in men older than 65 years. When treated, a significant improvement in quality of life may be reached in this rapidly rising sector of the population. During the evaluation, laboratory tests and a full medication review should be performed to exclude other illnesses or adverse effects from medications. The major goal of treatment in this population is treating the symptoms related to hypogonadism. There has not been clear evidence supporting universally giving older men with low serum testosterone levels and hypogonadal symptoms testosterone replacement therapy.

  19. Late-Onset Capsular Block Syndrome: Unusually Delayed Presentation

    Directory of Open Access Journals (Sweden)

    Mrinal Rana

    2013-12-01

    Full Text Available Capsular block syndrome (CBS has been known to occur as a rare complication of cataract surgery with continuous curvilinear capsulorhexis and a posterior-chamber lens implant. Typically, it presents with reduced vision in the early postoperative period and is characterised by a forward displacement of the posterior-chamber intra-ocular lens and an accumulation of intra-capsular opaque material. Management of CBS is usually by Nd:YAG laser capsulotomy. In this report, we describe a unique case of very-delayed-onset CBS with good visual acuity, occurring 8 years after surgery. It was treated successfully with surgical removal of the opaque material.

  20. Early-onset anorexia nervosa in girls with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Dudova I

    2015-07-01

    Full Text Available Iva Dudova, Jana Kocourkova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Eating disorders frequently occur in conjunction with autism spectrum disorders, posing diagnostic and therapeutic difficulties. The comorbidity of anorexia nervosa and Asperger syndrome is a significant clinical complication and has been associated with a poorer prognosis. The authors are presenting the cases of an eleven-year-old girl and a five-and-a-half-year-old girl with comorbid eating disorders and Asperger syndrome. Keywords: eating disorders, early-onset anorexia nervosa, autism spectrum disorders, Asperger syndrome, diagnostics, therapy