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Sample records for acquired uniparental disomy

  1. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

    Science.gov (United States)

    Izumi, Kosuke; Santani, Avni B; Deardorff, Matthew A; Feret, Holly A; Tischler, Tanya; Thiel, Brian D; Mulchandani, Surabhi; Stolle, Catherine A; Spinner, Nancy B; Zackai, Elaine H; Conlin, Laura K

    2013-01-01

    Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and isodisomy. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy; however, mosaic uniparental disomy is a rare finding in patients with Prader-Willi syndrome. We report on two infants with Prader-Willi syndrome caused by mosaic maternal uniparental disomy 15. Patient 1 has mosaic uniparental isodisomy of the entire chromosome 15, and Patient 2 has mosaic uniparental mixed iso/heterodisomy 15. Genome-wide single-nucleotide polymorphism array was able to demonstrate the presence of chromosomally normal cell line in the Patient 1 and trisomic cell line in Patient 2, and provide the evidence that post-fertilization error and trisomy rescue as a mechanism of uniparental disomy in each case, respectively. Given its ability of detecting small percent mosaicism as well as its capability of identifying the loss of heterozygosity of chromosomal regions, genome-wide single-nucleotide polymorphism array should be utilized as an adjunct to the standard methylation analysis in the evaluation of Prader-Willi syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  2. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

    NARCIS (Netherlands)

    Hordijk, R; Scheffer, H; Leegte, B; Hofstra, RMW; Stolte-Dijkstra, [No Value

    1999-01-01

    Groningen, Ne report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild

  3. Bloom syndrome and maternal uniparental disomy for chromosome 15

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    Woodage, T.; Prasad, M.; Trent, R.J.; Smith, A. (Children' s Hospital, Camperdown, New South Wales (New Zealand)); Dixon, J.W.; Romain, D.R.; Columbano-Green, L.M.; Selby, R.E. (Wellington Hospital (New Zealand)); Graham, D. (Waikato Hospital, Hamilton (New Zealand)); Rogan, P.K. (Pennsylvania State Univ., Hershey, PA (United States)) (and others)

    1994-07-01

    Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. 37 refs., 3 figs., 2 tabs.

  4. Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

    Science.gov (United States)

    Kariminejad, Ariana; Kariminejad, Roxana; Moshtagh, Azadeh; Zanganeh, Maryam; Kariminejad, Mohammad Hassan; Neuenschwander, Stefan; Okoniewski, Michal; Wey, Eva; Schinzel, Albert; Baumer, Alessandra

    2011-05-01

    In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic features in the absence of mental and developmental retardation. The second child had received two recombinant chromosomes 18, from the mother a derivative chromosome 18 with dup(18p)/del(18q) and from the father a derivative chromosome 18 with dup(18q)/del(18p). The aberration was prenatally detected; however, as the two opposite aneuploidies were thought to compensate each other, the family decided to carry on with the pregnancy, knowing that uniparental disomy for the segments outside the inversion could have an adverse influence on the development of the child. Uniparental disomy was confirmed by SNP arrays. The child, who has been followed up until the age of 20 months, is healthy and normal. It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.

  5. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  6. Frequent occurrence of uniparental disomy in colorectal cancer

    DEFF Research Database (Denmark)

    Andersen, Claus Lindbjerg; Wiuf, Carsten; Kruhøffer, Mogens

    2007-01-01

      We used SNP arrays to identify and characterize genomic alterations associated with colorectal cancer (CRC). Laser microdissected cancer cells from 15 adenocarinomas were investigated by Affymetrix Mapping 10K SNP arrays. Analysis of the data extracted from the SNP arrays revealed multiple......, consisting of 17 normal mucosa and 66 adenocarcinoma samples. The transcriptional analysis revealed an unchanged expression level in areas with intact copy number, including regions with uniparental disomy, and a reduced expression level in the LOH regions representing factual losses (including 5q, 8p and 17......p). The analysis also showed that genes in regions with increased copy number (including 7p and 20q) were predominantly upregulated. Further analyses of the SNP data revealed a subset of the identified alterations to be specifically associated with TP53 inactivation (including 8q gain and 17p loss...

  7. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

    Science.gov (United States)

    Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

    1999-06-01

    We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

  8. Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.

    Science.gov (United States)

    Ashraf, Ambika P; Hurst, Anna C E; Garg, Abhimanyu

    Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7.2), bicarbonate (25.4 mmol/L), and sodium (139 mmol/L). The patient had mild elevation of serum lactic acid and no ketonuria. A diagnosis of type I hyperlipoproteinemia was made. Oral feeding was stopped, and the infant received intravenous fluids for the next 7 days resulting in lowering of serum triglyceride levels to 1016 mg/dL. Oral feeding was initiated with an amino acid-rich formula to which medium chain triglycerides were slowly added, while maintaining the total fat content to A, p.(Gly215Glu) mutation. Subsequent analysis of the parental samples revealed that only the father, but not the mother, was a heterozygous carrier of the same mutation. Analysis of 18 informative microsatellite markers on chromosome 8 revealed paternal segmental uniparental disomy with partial absence of the maternal chromosome 8p, confirmed by single-nucleotide polymorphism microarray. We conclude that besides pseudohyponatremia, extreme hypertriglyceridemia can rarely present as pseudoacidosis and uniparental disomy can be an underlying mechanism for autosomal recessive diseases such as LPL deficiency. Published by Elsevier Inc.

  9. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

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    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  10. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

    Science.gov (United States)

    Takama, Yuichi; Kubota, Akio; Nakayama, Masahiro; Higashimoto, Ken; Jozaki, Kosuke; Soejima, Hidenobu

    2014-12-01

    Herein is described a case of breast fibroadenomas in a 16-year-old girl with Beckwith-Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS-associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS. © 2014 Japan Pediatric Society.

  11. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

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    Santoro, Stephanie L; Hashimoto, Sayaka; McKinney, Aimee; Mihalic Mosher, Theresa; Pyatt, Robert; Reshmi, Shalini C; Astbury, Caroline; Hickey, Scott E

    2017-01-01

    Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray. Additional assessment of 5,000 clinical microarrays, performed from 2013 to present, determined that only a single case of ROH for chromosome 15 was not caused by an imprinting disorder or identity by descent. We observed that ROH for chromosome 15 is rarely incidental and strongly associated with hypotonic infants having features of PWS. Although UPD microsatellite studies remain essential to definitively establish the presence of UPD, SNP microarray has important utility in the timely diagnostic algorithm for PWS. © 2017 S. Karger AG, Basel.

  12. Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

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    Zeesman, Susan; McCready, Elizabeth; Sadikovic, Bekim; Nowaczyk, Małgorzata Jm

    2015-01-01

    Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from maternal uniparental disomy of chromosome 15. The child also had an isochromosome Xq. To further characterize the etiology of the aberrant chromosome 15 and the isochromosome Xq, SNP loci from both chromosomes were assessed in the proband and parents, and genome-wide DNA methylation analysis was performed. SNP and DNA methylation analysis confirmed maternal uniparental heterodisomy around the Prader-Willi locus, while the region around the HEXA locus showed maternal uniparental isodisomy. This result is consistent with trisomy rescue of a maternal meiosis l error in a chromosome 15 with two meiotic recombinations. SNP analysis of the X chromosomes is consistent with a maternal origin for the isochromosome. © 2014 Wiley Periodicals, Inc.

  13. A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.

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    Atik, T; Aykut, A; Karaca, E; Onay, H; Ozkinay, F; Cogulu, O

    2014-01-01

    The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprinting defects as well. Although a number of imprinting syndromes have been reported to be related with ART, no case with uniparental disomy (UPD) caused Prader-Willi syndrome (PWS) [OMIM ID: 176270] has been reported in the literature. Here we present a dizygotic twin in which one of them was born with maternal UPD15 following ART. The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet. Laboratory investigations revealed minimal dilatation in 3rd and 4th ventricles and corpus callosum hypoplasia in magnetic resonance imaging, supravalvular pulmonary stenosis in echocardiography and pelvicaliectasia in the USG examinations. Methylation and microsatellite markers analyses showed maternal UPD for chromosome 15. Here we report, for the first time UPD caused PWS patient born after ART.

  14. Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

    Science.gov (United States)

    Donovan, Frank X; Kimble, Danielle C; Kim, Yonghwan; Lach, Francis P; Harper, Ursula; Kamat, Aparna; Jones, MaryPat; Sanborn, Erica M; Tryon, Rebecca; Wagner, John E; MacMillan, Margaret L; Ostrander, Elaine A; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C

    2016-05-01

    Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele. FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem repeat markers and SNP arrays revealed uniparental disomy (UPD) of the entire mutation-carrying chromosome 16 in all four patients. One FANCA patient had paternal UPD, whereas FA in the other three patients resulted from maternal UPD. These are the first reported cases of UPD as a cause of FA. UPD indicates a reduced risk of having another child with FA in the family and has implications in prenatal diagnosis. © 2016 WILEY PERIODICALS, INC.

  15. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

    Science.gov (United States)

    Kim, Ahlee; Fujimoto, Masanobu; Hwa, Vivian; Backeljauw, Philippe; Dauber, Andrew

    2018-01-01

    Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing. The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelman syndrome. Whole-exome sequencing further revealed a novel homozygous intronic variant in CYP11A1, the gene encoding P450scc, found within the region of UPD. In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing. We report the first case of the combination of 2 rare genetic disorders, Angelman syndrome, and P450scc deficiency. After 20 years of diagnostic efforts, significant advances in genetic diagnostic technology allowed us to determine that these 2 disorders originate from a unified genetic etiology, segmental UPD unmasking a novel recessive mutation in CYP11A1. © 2018 S. Karger AG, Basel.

  16. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

    Science.gov (United States)

    Zilina, Olga; Kahre, Tiina; Talvik, Inga; Oiglane-Shlik, Eve; Tillmann, Vallo; Ounap, Katrin

    2014-01-01

    Prader-Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2-q13.2, which can be due to an interstitial deletion at 15q11.2-q13 of paternal origin (65-75%), maternal uniparental disomy (matUPD) of chromosome 15 (20-30%), or an imprinting defect (1-3%). The majority of PWS-associated matUPD15 cases represent a complete heterodisomy of chromosome 15 or a mixture of hetero- and isodisomic regions across the chromosome 15. Pure maternal isodisomy is observed in only a few matUPD15 patients. Here we report a case of an 18-year-old boy with some clinical features of Prader-Willi syndrome, such as overweight, muscular hypotonia, facial dysmorphism and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation. However, chromosomal microarray analysis (CMA) revealed mosaic loss of heterozygosity of the entire chromosome 15. Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient. Taking into consideration the MS-MLPA results and the presence of PWS features in the patient, we concluded that it was matUPD15, although the patient's parents were not enrolled in the study. According to CMA and karyotyping, no trisomic or monosomic cells were present. To the best of our knowledge, only two PWS cases with mosaic maternal isodisomy 15 and without trisomic/monosomic cell lines have been reported so far. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  17. An Atypical Human Induced Pluripotent Stem Cell Line With a Complex, Stable, and Balanced Genomic Rearrangement Including a Large De Novo 1q Uniparental Disomy

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    Steichen, Clara; Maluenda, Jérôme; Tosca, Lucie; Luce, Eléanor; Pineau, Dominique; Dianat, Noushin; Hannoun, Zara; Tachdjian, Gérard; Melki, Judith

    2015-01-01

    Human induced pluripotent stem cells (hiPSCs) hold great promise for cell therapy through their use as vital tools for regenerative and personalized medicine. However, the genomic integrity of hiPSCs still raises some concern and is one of the barriers limiting their use in clinical applications. Numerous articles have reported the occurrence of aneuploidies, copy number variations, or single point mutations in hiPSCs, and nonintegrative reprogramming strategies have been developed to minimize the impact of the reprogramming process on the hiPSC genome. Here, we report the characterization of an hiPSC line generated by daily transfections of modified messenger RNAs, displaying several genomic abnormalities. Karyotype analysis showed a complex genomic rearrangement, which remained stable during long-term culture. Fluorescent in situ hybridization analyses were performed on the hiPSC line showing that this karyotype is balanced. Interestingly, single-nucleotide polymorphism analysis revealed the presence of a large 1q region of uniparental disomy (UPD), demonstrating for the first time that UPD can occur in a noncompensatory context during nonintegrative reprogramming of normal fibroblasts. PMID:25650439

  18. Structural rearrangements of chromosome 15 satellites resulting in Prader-Willi syndrome suggest a complex mechanism for uniparental disomy

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    Toth-Fijel, S.; Gunter, K.; Olson, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1994-09-01

    We report two cases of PWS in which there was abnormal meiosis I segregation of chromosome 15 following a rare translocation event between the heteromorphic satellite regions of chromosomes 14 and 15 and an apparent meiotic recombination in the unstable region of 15q11.2. PWS and normal appearing chromosomes in case one prompted a chromosome 15 origin analysis. PCR analysis indicated maternal isodisomy for the long arm of chromosome. However, only one chromosome 15 had short arm heteromorphisms consistent with either paternal or maternal inheritance. VNTR DNA analysis and heteromorphism data suggest that a maternal de novo translocation between chromosome 14 and 15 occurred prior to meiosis I. This was followed by recombination between D15Z1 and D15S11 and subsequent meiosis I nondisjunction. Proband and maternal karyotype display a distamycin A-DAPI positive region on the chromosome 14 homolog involved in the translocation. Fluorescent in situ hybridization (FISH) analyses of ONCOR probes D15S11, SNRPN, D15S11 and GABRB 3 were normal, consistent with the molecular data. Case two received a Robertsonian translocation t(14;15)(p13;p13) of maternal origin. Chromosome analysis revealed a meiosis I error producing UPD. FISH analysis of the proband and parents showed normal hybridization of ONCOR probes D15Z1, D15S11, SNRPN, D15S10 and GABRB3. In both cases the PWS probands received a structurally altered chromosome 15 that had rearranged with chromosome 14 prior to meiosis. If proper meiotic segregation is dependent on the resolution of chiasmata and/or the binding to chromosome-specific spindle fibers, then it may be possible that rearrangements of pericentric or unstable regions of the genome disrupt normal disjunction and lead to uniparental disomy.

  19. Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

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    Mayuko Tamura

    Full Text Available Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR gene. No patients have been reported with uniparental disomy (UPD.Using genome-wide single nucleotide polymorphism (SNP array to confirm whether HVDRR was caused by UPD of chromosome 12.A 2-year-old girl with alopecia and short stature and without any family history of consanguinity was diagnosed with HVDRR by typical laboratory data findings and clinical features of rickets. Sequence analysis of VDR was performed, and the origin of the homozygous mutation was investigated by target SNP sequencing, short tandem repeat analysis, and genome-wide SNP array.The patient had a homozygous p.Arg73Ter nonsense mutation. Her mother was heterozygous for the mutation, but her father was negative. We excluded gross deletion of the father's allele or paternal discordance. Genome-wide SNP array of the family (the patient and her parents showed complete maternal isodisomy of chromosome 12. She was successfully treated with high-dose oral calcium.This is the first report of HVDRR caused by UPD, and the third case of complete UPD of chromosome 12, in the published literature. Genome-wide SNP array was useful for detecting isodisomy and the parental origin of the allele. Comprehensive examination of the homozygous state is essential for accurate genetic counseling of recurrence risk and appropriate monitoring for other chromosome 12 related disorders. Furthermore, oral calcium therapy was effective as an initial treatment for rickets in this instance.

  20. Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case.

    Science.gov (United States)

    Chen, Man; Jiang, Jian; Li, Chen; Ren, He; Chen, Wei; Liu, Zhiyong; Cheng, Feng; Zhao, Jing; Chen, Tong; Chen, Chuguang; Yan, Jiangwei

    2018-05-25

    We present a duo paternity test case to assess the biological relationship between a woman and her female child. After analyzing 57 autosomal and 19 X-chromosomal short tandem repeat loci, mother-daughter exclusions were discovered at four loci, which were all located on chromosome 2. Further testing of whole-genome single nucleotide polymorphisms confirmed that the daughter had complete uniparental disomy (UPD) of chromosome 2. This study presents a cautionary case demonstrating that hasty decisions of parentage exclusion should not be made when genetic markers on the same chromosome do not conform to Mendel's laws due to UPD.

  1. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

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    Milunsky, J.M. [Boston Univ. School Med, MA (United States)]|[Tufts-New England Med. Ctr, Boston, MA (United States); Wyandt, H.E.; Amos, J.A. [Boston Univ. School Med., MA (United States)] [and others

    1994-09-01

    We describe a liveborn infant with UPD in association with trisomy 15 mosaicism. Third trimester amniocentesis was performed for suspected IUGR. Results revealed 46,XX/47,XX,+15. The infant initially had respiratory distress and fed poorly. Symmetrical growth retardation, craniofacial dysmorphism, excess nuchal folds, a heart murmur, hypermobile joints, minor limb abnormalities, absent spontaneous movement and an abnormal cry were noted. Further study showed complex heart defects, including VSD and PDA, a left choroid plexus cyst, 13 ribs bilaterally, abnormal optic discs, abnormal visual evoked potentials and abnormal auditory brain stem responses. The infant died at 6 weeks of life from cardio-respiratory complications. Blood chromosomes were normal, 46,XX in 100 cells. Parental blood chromosomes were normal. Skin biopsy revealed 46,XX/47,XX,+15 in 40/50 (80%) cells as did autopsy lung tissue. Molecular analysis of the infant`s blood revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. Microsatellite analysis demonstrated that the extra chromosome originated from a maternal meiosis I nondisjunction. To our knowledge, this is the first liveborn infant with mosaic trisomy 15 and UPD in the diploid cells. Trisomy 15, heretofore, has been regarded as nonviable, even in mosaic form. While maternal UPD is associated with the Prader-Willi syndrome phenotype, mosaicism for trisomy 15 has been reported only when confined to the placenta. UPD in this case generally complicated prediction of the phenotype and raises the question whether all cases with UPD 15 should have more than one tissue studied to determine undetected trisomy 15.

  2. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult

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    Papenhausen, P.R.; Mueller, O.T.; Sutcliffe, M.; Diamond, T.M.; Kousseff, B.G. [Univ. of South Florida College of Medicine, Tampa, FL (United States); Johnson, V.P. [Univ. of South Dakota, Sioux Falls, SD (United States)

    1995-11-20

    Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal LTPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. 30 refs., 3 figs.

  3. Uniparental Inheritance Promotes Adaptive Evolution in Cytoplasmic Genomes

    Science.gov (United States)

    Christie, Joshua R.; Beekman, Madeleine

    2017-01-01

    Eukaryotes carry numerous asexual cytoplasmic genomes (mitochondria and plastids). Lacking recombination, asexual genomes should theoretically suffer from impaired adaptive evolution. Yet, empirical evidence indicates that cytoplasmic genomes experience higher levels of adaptive evolution than predicted by theory. In this study, we use a computational model to show that the unique biology of cytoplasmic genomes—specifically their organization into host cells and their uniparental (maternal) inheritance—enable them to undergo effective adaptive evolution. Uniparental inheritance of cytoplasmic genomes decreases competition between different beneficial substitutions (clonal interference), promoting the accumulation of beneficial substitutions. Uniparental inheritance also facilitates selection against deleterious cytoplasmic substitutions, slowing Muller’s ratchet. In addition, uniparental inheritance generally reduces genetic hitchhiking of deleterious substitutions during selective sweeps. Overall, uniparental inheritance promotes adaptive evolution by increasing the level of beneficial substitutions relative to deleterious substitutions. When we assume that cytoplasmic genome inheritance is biparental, decreasing the number of genomes transmitted during gametogenesis (bottleneck) aids adaptive evolution. Nevertheless, adaptive evolution is always more efficient when inheritance is uniparental. Our findings explain empirical observations that cytoplasmic genomes—despite their asexual mode of reproduction—can readily undergo adaptive evolution. PMID:28025277

  4. Uniparental Inheritance Promotes Adaptive Evolution in Cytoplasmic Genomes.

    Science.gov (United States)

    Christie, Joshua R; Beekman, Madeleine

    2017-03-01

    Eukaryotes carry numerous asexual cytoplasmic genomes (mitochondria and plastids). Lacking recombination, asexual genomes should theoretically suffer from impaired adaptive evolution. Yet, empirical evidence indicates that cytoplasmic genomes experience higher levels of adaptive evolution than predicted by theory. In this study, we use a computational model to show that the unique biology of cytoplasmic genomes-specifically their organization into host cells and their uniparental (maternal) inheritance-enable them to undergo effective adaptive evolution. Uniparental inheritance of cytoplasmic genomes decreases competition between different beneficial substitutions (clonal interference), promoting the accumulation of beneficial substitutions. Uniparental inheritance also facilitates selection against deleterious cytoplasmic substitutions, slowing Muller's ratchet. In addition, uniparental inheritance generally reduces genetic hitchhiking of deleterious substitutions during selective sweeps. Overall, uniparental inheritance promotes adaptive evolution by increasing the level of beneficial substitutions relative to deleterious substitutions. When we assume that cytoplasmic genome inheritance is biparental, decreasing the number of genomes transmitted during gametogenesis (bottleneck) aids adaptive evolution. Nevertheless, adaptive evolution is always more efficient when inheritance is uniparental. Our findings explain empirical observations that cytoplasmic genomes-despite their asexual mode of reproduction-can readily undergo adaptive evolution. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  5. Do Uniparental Sanderlings

    NARCIS (Netherlands)

    Reneerkens, J.; Grond, K.; Schekkerman, H.; Tulp, I.; Piersma, T.

    2011-01-01

    Birds breeding in cold environments regularly have to interrupt incubation to forage, causing a trade-off between two mutually exclusive behaviours. Earlier studies showed that uniparental Arctic sandpipers overall spend less time incubating their eggs than biparental species, but interspecific

  6. Selective sweeps of mitochondrial DNA can drive the evolution of uniparental inheritance.

    Science.gov (United States)

    Christie, Joshua R; Beekman, Madeleine

    2017-08-01

    Although the uniparental (or maternal) inheritance of mitochondrial DNA (mtDNA) is widespread, the reasons for its evolution remain unclear. Two main hypotheses have been proposed: selection against individuals containing different mtDNAs (heteroplasmy) and selection against "selfish" mtDNA mutations. Recently, uniparental inheritance was shown to promote adaptive evolution in mtDNA, potentially providing a third hypothesis for its evolution. Here, we explore this hypothesis theoretically and ask if the accumulation of beneficial mutations provides a sufficient fitness advantage for uniparental inheritance to invade a population in which mtDNA is inherited biparentally. In a deterministic model, uniparental inheritance increases in frequency but cannot replace biparental inheritance if only a single beneficial mtDNA mutation sweeps through the population. When we allow successive selective sweeps of mtDNA, however, uniparental inheritance can replace biparental inheritance. Using a stochastic model, we show that a combination of selection and drift facilitates the fixation of uniparental inheritance (compared to a neutral trait) when there is only a single selective mtDNA sweep. When we consider multiple mtDNA sweeps in a stochastic model, uniparental inheritance becomes even more likely to replace biparental inheritance. Our findings thus suggest that selective sweeps of beneficial mtDNA haplotypes can drive the evolution of uniparental inheritance. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  7. What Causes Prader-Willi Syndrome?

    Science.gov (United States)

    ... a fundamental role in regulating hunger and fullness. Maternal uniparental disomy (pronounced yoo-nuh-puh-REN-tl ... 2018). Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural ...

  8. Human sperm sex chromosome disomy and sperm DNA damage assessed by the neutral comet assay.

    Science.gov (United States)

    McAuliffe, M E; Williams, P L; Korrick, S A; Dadd, R; Marchetti, F; Martenies, S E; Perry, M J

    2014-10-10

    Is there an association between human sperm sex chromosome disomy and sperm DNA damage? An increase in human sperm XY disomy was associated with higher comet extent; however, there was no other consistent association of sex chromosome disomies with DNA damage. There is limited published research on the association between sex chromosome disomy and sperm DNA damage and the findings are not consistent across studies. We conducted a cross-sectional study of 190 men (25% ever smoker, 75% never smoker) from subfertile couples presenting at the Massachusetts General Hospital Fertility Clinic from January 2000 to May 2003. Multiprobe fluorescence in situ hybridization for chromosomes X, Y and 18 was used to determine XX, YY, XY and total sex chromosome disomy in sperm nuclei using an automated scoring method. The neutral comet assay was used to measure sperm DNA damage, as reflected by comet extent, percentage DNA in the comet tail, and tail distributed moment. Univariate and multiple linear regression models were constructed with sex chromosome disomy (separate models for each of the four disomic conditions) as the independent variable, and DNA damage parameters (separate models for each measure of DNA damage) as the dependent variable. Men with current or past smoking history had significantly greater comet extent (µm: regression coefficients with 95% CI) [XX18: 15.17 (1.98, 28.36); YY18: 14.68 (1.50, 27.86); XY18: 15.41 (2.37, 28.45); Total Sex Chromosome Disomy: 15.23 (2.09, 28.38)], and tail distributed moment [XX18: 3.01 (0.30, 5.72); YY18: 2.95 (0.24, 5.67); XY18: 3.04 (0.36, 5.72); Total Sex Chromosome Disomy: 3.10 (0.31, 5.71)] than men who had never smoked. In regression models adjusted for age and smoking, there was a positive association between XY disomy and comet extent. For an increase in XY disomy from 0.56 to 1.47% (representing the 25th to 75th percentile), there was a mean increase of 5.08 µm in comet extent. No other statistically significant

  9. Epigenoty-pephenotype correlations in Silver-Russell syndrome

    NARCIS (Netherlands)

    Wakeling, E. L.; Abu Amero, S.; Alders, M.; Bliek, J.; Forsythe, E.; Kumar, S.; Lim, D. H.; MacDonald, F.; Mackay, D. J.; Maher, E. R.; Moore, G. E.; Poole, R. L.; Price, S. M.; Tangeraas, T.; Turner, C. L. S.; Van Haelst, M. M.; Willoughby, C.; Temple, I. K.; Cobben, J. M.

    2010-01-01

    Background Silver Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome

  10. Epigenotype-phenotype correlations in Silver-Russell syndrome

    NARCIS (Netherlands)

    Wakeling, E. L.; Amero, S. Abu; Alders, M.; Bliek, J.; Forsythe, E.; Kumar, S.; Lim, D. H.; Macdonald, F.; Mackay, D. J.; Maher, E. R.; Moore, G. E.; Poole, R. L.; Price, S. M.; Tangeraas, T.; Turner, C. L. S.; van Haelst, M. M.; Willoughby, C.; Temple, I. K.; Cobben, J. M.

    2010-01-01

    Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are

  11. Developmental peculiarities in placentae of ovine uniparental conceptuses.

    Directory of Open Access Journals (Sweden)

    Roberta Arena

    Full Text Available Genomic imprinting is an epigenetic phenomenon regulating mono-allelic expression of genes depending on their parental origin. Defective genomic imprinting is involved in several placental disorders, such as intrauterine growth restriction and pre-eclampsia. Uniparental embryos, having maternal-only or paternal-only genomes (parthenogenotes [PAR] and androgenotes [AND], respectively, are useful models to study placentation. The aim of this work was to reveal the effect of parental genome (maternal and paternal on placentation. To do this, uniparental (AND and PAR and biparental (CTR in vitro produced sheep embryos transferred to recipient females were collected at day 20 of pregnancy and their placentae were analyzed. qPCR analysis showed that imprinted genes (H19, IGF2R and DLK1 were expressed accordingly to their parental origin while the expression f DNA methyltransferases ( was disregulated, especially in PAR (P < 0.05. AND placentae were significantly hypomethylated compared to both PAR and CTR (P = 0.023. Chorion-allantoid of AND showed impaired development of vessels and reduced mRNA expression of vasculogenetic factors (ANG2 P = 0.05; VEGFR2 P< 0.001; TIE2 P < 0.001. Morphologically, PAR placentae were characterized by abnormal structure of the trophoectodermal epithelium and reduced total number (P<0.03 of Trophoblastic Binucleate Cells. A reduced implantation rate of both classes of uniparental embryos (P<0.03 was also noted. Our results provide new insights into the characterization of uniparental embryos and demonstrate the complementary role of parental genomes for the correct establishment of pregnancy. Thus, our findings may suggest new targets to improve our understanding of the origin of imprinting-related placental dysfunction.

  12. Environmental exposure to parabens and sperm chromosome disomy.

    Science.gov (United States)

    Jurewicz, Joanna; Radwan, Michał; Wielgomas, Bartosz; Klimowska, Anna; Kałużny, Paweł; Radwan, Paweł; Jakubowski, Lucjusz; Hanke, Wojciech

    2017-10-01

    Parabens are widely used as antimicrobial preservatives in cosmetics, pharmaceuticals, food and beverage processing due to their board spectrum of activity, inertness, and low cost. The study population consisted of 156 men under 45 years of age who attended the infertility clinic for diagnostic purposes with normal semen concentration of 15-300 mln/ml. Participants were interviewed and provided a semen sample. The parabens concentrations: ethyl paraben (EP), butyl paraben (BP), methyl paraben (MP), and iso-butyl paraben (iBuP) were analyzed in the urine using a validated gas chromatography ion-tap mass spectrometry method. The positive association was found between urinary level of BP and XY18 disomy (p = 0.045) and PP and disomy of chromosome 13 (p = 0.007). This is the first study to examine these relationships, and replication of our findings is needed before the association between parabens concentration in urine and aneuploidy can be fully defined. These findings may be of concern due to increased parabens use.

  13. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

    DEFF Research Database (Denmark)

    Schulze, A; Hansen, Claus; Baekgaard, P

    1997-01-01

    Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances n...

  14. Klinefelter's syndrome and Prader-Willi syndrome: A rare combination

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

  15. Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

  16. Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum Disorder

    Science.gov (United States)

    Feldman, Benjamin H.; Dimitropoulos, Anastasia

    2014-01-01

    Individuals with Prader-Willi Syndrome (PWS) are at risk for autism spectrum disorder (ASD), including socialization problems. The PWS chromosome 15q11-13 maternal uniparental disomy (mUPD) subtype displays greater ASD symptoms than the paternal deletion (DEL) subtype. Since interpreting faces leads to successful socialization, we compared face…

  17. Early embryonic failure: Expression and imprinted status of candidate genes on human chromosome 21

    Energy Technology Data Exchange (ETDEWEB)

    Sherman, L.S.; Bennett, P.R.; Moore, G.E. [Queen Charlotte`s and Chelsea Hospital, London (United Kingdom)

    1994-09-01

    Two cases of maternal uniparental (hetero)disomy for human chromosome 21 (mUPD21) have been identified in a systematic search for UPD in 23 cases of early embryonic failure (EEF). Bi-parental origin of the other chromosome pairs was confirmed using specific VNTR probes or dinucleotide repeat analysis. Both maternally and paternally derived isochromosomes 21q have previously been identified in two individuals with normal phenotypes. Full UPD21 has a different mechanism of origin than uniparental isochromosome 21q and its effect on imprinted genes and phenotypic outcome will therefore not necessarily be the same. EEF associated with mUPD21 suggests that developmentally important genes on HSA 21 may be imprinted such that they are only expressed from either the maternally or paternally derived alleles. We have searched for monoallelic expression of candidate genes on HSA 21 in human pregnancy (CBS, IFNAR, COL6A1) using intragenic DNA polymorphisms. These genes were chosen either because their murine homologues lie in imprinted regions or because they are potentially important in embryogenesis. Once imprinted candidate genes have been identified, their methylation status and expression in normal, early embryonic failure and uniparental disomy 21 pregnancies will be studied. At the same time, a larger number of cases of EEF are being examined to further investigate the incidence of UPD21 in this group.

  18. Uniparental ancestry markers in Chilean populations

    Directory of Open Access Journals (Sweden)

    Camilla Dutra Vieira-Machado

    Full Text Available Abstract The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean regions. Newborns from seven hospitals in Independencia, Providencia, Santiago, Curicó, Cauquenes, Valdívia, and Puerto Montt communes, belonging to the Chilean regions of Santiago, Maule, and Los Lagos, were studied. The presence of Native American mitochondrial DNA (mtDNA haplogroups and two markers present in the non-recombinant region of the Y chromosome, DYS199 and DYS287, indicative of Native American and African ancestry, respectively, was determined. A high Native American matrilineal contribution and a low Native American and African patrilineal contributions were found in all three studied regions. As previously found in Chilean admixed populations, the Native American matrilineal contribution was lower in Santiago than in the other studied regions. However, there was an unexpectedly higher contribution of Native American ancestry in one of the studied communes in Santiago, probably due to the high rate of immigration from other regions of the country. The population genetic sub-structure we detected in Santiago using few uniparental markers requires further confirmation, owing to possible stratification for autosomal and X-chromosome markers.

  19. Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia

    Directory of Open Access Journals (Sweden)

    Sarah E Flanagan

    2011-11-01

    Full Text Available BackgroundLoss of function mutations in the genes encoding the pancreatic β-cell ATP-sensitive potassium (KATP channel are identified in approximately 80% of patients with diazoxide-unresponsive hyperinsulinaemic-hypoglycaemia (HH. For a small number of patients HH can occur as part of a multisystem disease such as Beckwith-Wiedemann syndrome (BWS. In approximately 20% of patients, BWS results from chromosome 11 paternal uniparental disomy (UPD, which causes dysregulation of imprinted growth regulation genes at 11p15.5. There is a considerable range in the clinical features and phenotypic severity associated with BWS which is likely to be due to somatic mosaicism. The cause of HH in these patients is not known.Research Design and methodsWe undertook microsatellite analysis of 12 markers spanning chromosome 11p in two patients with severe HH and diffuse disease requiring a pancreatectomy. In both patients mutations in the KATP channel genes had not been identified. ResultsWe identified segmental paternal UPD in DNA extracted from pancreatic tissue in both patients. UPD was not observed in DNA extracted from the patient’s leukocytes or buccal samples. In both cases the UPD encompassed the differentially methylated region at chromosome 11p15.5. Despite this neither patient had any further features of BWS.ConclusionsPaternal UPD of the chromosome 11p15.5 differentially methylated region limited to the pancreatic tissue may represent a novel cause of isolated diazoxide unresponsive HH. Loss of heterozygosity studies should therefore be considered in all patients with severe HH who have undergone pancreatic surgery when KATP channel mutation(s have not been identified.

  20. Chromosome VIII disomy influences the nonsense suppression efficiency and transition metal tolerance of the yeast Saccharomyces cerevisiae.

    Science.gov (United States)

    Zadorsky, S P; Sopova, Y V; Andreichuk, D Y; Startsev, V A; Medvedeva, V P; Inge-Vechtomov, S G

    2015-06-01

    The SUP35 gene of the yeast Saccharomyces cerevisiae encodes the translation termination factor eRF3. Mutations in this gene lead to the suppression of nonsense mutations and a number of other pleiotropic phenotypes, one of which is impaired chromosome segregation during cell division. Similar effects result from replacing the S. cerevisiae SUP35 gene with its orthologues. A number of genetic and epigenetic changes that occur in the sup35 background result in partial compensation for this suppressor effect. In this study we showed that in S. cerevisiae strains in which the SUP35 orthologue from the yeast Pichia methanolica replaces the S. cerevisiae SUP35 gene, chromosome VIII disomy results in decreased efficiency of nonsense suppression. This antisuppressor effect is not associated with decreased stop codon read-through. We identified SBP1, a gene that localizes to chromosome VIII, as a dosage-dependent antisuppressor that strongly contributes to the overall antisuppressor effect of chromosome VIII disomy. Disomy of chromosome VIII also leads to a change in the yeast strains' tolerance of a number of transition metal salts. Copyright © 2015 John Wiley & Sons, Ltd.

  1. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

    Energy Technology Data Exchange (ETDEWEB)

    Spotila, L.D.; Sereda, L.; Prockop, D.J. (Jefferson Medical College, Philadelphia, PA (United States))

    1992-12-01

    Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, the authors describe a third case that was discovered because the proband was homozygous for a mutation in the COL1A2 gene for type I procollagen, although his mother was heterozygous and his father did not have the mutation. Phenotypically, the proband was similar to the two previously reported cases with uniparental disomy for chromosome 7, in that he was short in stature and growth retarded. Paternity was assessed with five polymorphic markers. Chromosome 7 inheritance in the proband was analyzed using 12 polymorphic markers distributed along the entire chromosome. Similar analysis of the proband's two brothers established the phase of the alleles at the various loci, assuming minimal recombination. The proband inherited only maternal alleles at five loci and was homozygous at all loci examined, except one. He was heterozygous for an RFLP at the IGBP-1 locus at 7p13-p12. The results suggest that the isodisomy was not complete because of a recombination event involving the proximal short arms of two maternal chromosomes. In addition, the phenotype of proportional dwarfism in the proband suggests imprinting of one or more growth-related genes on chromosome 7. 42 refs., 5 figs., 3 tabs.

  2. Clonal hematopoiesis in acquired aplastic anemia.

    Science.gov (United States)

    Ogawa, Seishi

    2016-07-21

    Clonal hematopoiesis (CH) in aplastic anemia (AA) has been closely linked to the evolution of late clonal disorders, including paroxysmal nocturnal hemoglobinuria and myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML), which are common complications after successful immunosuppressive therapy (IST). With the advent of high-throughput sequencing of recent years, the molecular aspect of CH in AA has been clarified by comprehensive detection of somatic mutations that drive clonal evolution. Genetic abnormalities are found in ∼50% of patients with AA and, except for PIGA mutations and copy-neutral loss-of-heterozygosity, or uniparental disomy (UPD) in 6p (6pUPD), are most frequently represented by mutations involving genes commonly mutated in myeloid malignancies, including DNMT3A, ASXL1, and BCOR/BCORL1 Mutations exhibit distinct chronological profiles and clinical impacts. BCOR/BCORL1 and PIGA mutations tend to disappear or show stable clone size and predict a better response to IST and a significantly better clinical outcome compared with mutations in DNMT3A, ASXL1, and other genes, which are likely to increase their clone size, are associated with a faster progression to MDS/AML, and predict an unfavorable survival. High frequency of 6pUPD and overrepresentation of PIGA and BCOR/BCORL1 mutations are unique to AA, suggesting the role of autoimmunity in clonal selection. By contrast, DNMT3A and ASXL1 mutations, also commonly seen in CH in the general population, indicate a close link to CH in the aged bone marrow, in terms of the mechanism for selection. Detection and close monitoring of somatic mutations/evolution may help with prediction and diagnosis of clonal evolution of MDS/AML and better management of patients with AA. © 2016 by The American Society of Hematology.

  3. The costs of being male: are there sex-specific effects of uniparental mitochondrial inheritance?

    NARCIS (Netherlands)

    Beekman, M.; Dowling, D.K.; Aanen, D.K.

    2014-01-01

    Eukaryotic cells typically contain numerous mitochondria, each with multiple copies of their own genome, the mtDNA. Uniparental transmission of mitochondria, usually via the mother, prevents the mixing of mtDNA from different individuals. While on the one hand, this should resolve the potential for

  4. Do Uniparental Sanderlings Calidris alba Increase Egg Heat Input to Compensate for Low Nest Attentiveness?

    NARCIS (Netherlands)

    Reneerkens, J.; Grond, K.; Schekkerman, H.; Tulp, I.Y.M.; Piersma, Th.

    2011-01-01

    Birds breeding in cold environments regularly have to interrupt incubation to forage, causing a trade-off between two mutually exclusive behaviours. Earlier studies showed that uniparental Arctic sandpipers overall spend less time incubating their eggs than biparental species, but interspecific

  5. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    Energy Technology Data Exchange (ETDEWEB)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  6. Recent Advances in Imprinting Disorders

    DEFF Research Database (Denmark)

    Soellner, L; Begemann, M; Mackay, D J G

    2017-01-01

    Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations...... and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different...

  7. Histological features of the pancreas in a patient with congenital hyperinsulinism due to Beckwith-Wiedemann syndrome

    DEFF Research Database (Denmark)

    Christensen, Lene; Christesen, Henrik Boye Thybo; Brusgaard, Klaus

    throughout the entire pancreas. Genetic testing revealed paternal uniparental disomy of the entire chromosome 11, consistent with BWS, while ABCC8, KCNJ11 and other known CHI genes were normal. The left-sided resection specimen measured 10x20x70 mm. Histologically, confluent small islets...... and trabeculi of endocrine cells with uniform nuclei and sparse cytoplasm were observed throughout the pancreas. Most of the endocrine cells expressed insulin, while cells positive for glucagon and somatostatin were observed at the periphery of the confluent trabeculi and islets. The endocrine cells occupied...

  8. Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine

    Directory of Open Access Journals (Sweden)

    Takeo Kubota

    2016-03-01

    Full Text Available Prader-Willi syndrome (PWS is a congenital neurodevelopmental disorder caused by loss of function of paternally expressed genes on chromosome 15 due to paternal deletion of 15q11–q13, maternal uniparental disomy for chromosome 15, or an imprinting mutation. We previously developed a DNA methylation-based PCR assay to identify each of these three genetic causes of PWS. The assay enables straightforward and rapid diagnosis during infancy and therefore allows early intervention such as nutritional management, physical therapy, or growth hormone treatment to prevent PWS patients from complications such as obesity and type 2 diabetes. It is known that various environmental factors induce epigenomic changes during the perinatal period, which increase the risk of adult diseases such as type 2 diabetes and intellectual disabilities. Therefore, a similar preemptive approach as used in PWS would also be applicable to acquired disorders and would make use of environmentally-introduced “epigenomic signatures” to aid development of early intervention strategies that take advantage of “epigenomic reversibility”.

  9. Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome.

    Science.gov (United States)

    Lo, Sin Ting; Siemensma, Elbrich; Collin, Philippe; Hokken-Koelega, Anita

    2013-09-01

    In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (β=0.662, p0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (β=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child's level of social cognitive functioning. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  11. Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

    Directory of Open Access Journals (Sweden)

    Meredith Wasserman

    2017-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

  12. Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

    Directory of Open Access Journals (Sweden)

    João M. de Pina-Neto

    1997-06-01

    Full Text Available The Prader-Willi syndrome (PWS and the Angelman syndrome (AS are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q 11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In contrast, maternal deletions and paternal chromosome 15 uniparental disomy are associated with a different neurogenetic disorder, the AS. In both disorders, these mutations are associated with parent-of-origin specific methylation at several 15q 11-13 loci. We studied 5 patients suspect of PWS and 4 patients suspect of AS who were referred to the Medical Genetics Unit at the University Hospital of Medical School from Ribeirão Preto. Our objective was to establish the correct clinical and etiological diagnosis in these cases. We used conventional cytogenetics, methylation analysis with the probe KB 17 (CpG island of the SNRPN gene by Southern blotting after digestion with the Xba I and Not I restriction enzymes. We studied in patients and their parents the segregation of the (CAn repeats polymorphisms by PCR, using the primers 196 and IR4-3R. All the patients had normal conventional cytogenetical analysis. We confirmed 3 cases of PWS: one by de novo deletion, one by maternal chromosome 15 uniparental disomy and one case with no defined cause determined by the used primers. We confirmed 2 cases of AS, caused by de novo deletion at the 15q 11-13 region, and one case with normal molecular analysis but with strong clinical characteristics.A síndrome de Prader-Willi (SPW e a síndrome de Angelman (SA são doenças neurogenéticas consideradas como exemplos do fenômeno de imprinting em seres humanos, estando relacionadas com alterações envolvendo a região cromossômica 15q11-13. As alterações genéticas predominantes na SPW são deleções na região 15q 11-13 de origem paterna e dissomia uniparental materna. Na SA encontra-se deleções na região 15q

  13. Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

    Directory of Open Access Journals (Sweden)

    Marta Bueno

    Full Text Available Prader-Willi syndrome (PWS is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF and leptin are reciprocally involved in energy homeostasis.To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.Experimental study.University hospital.90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls.Subjects ingested a liquid meal after fasting ≥10 hours.Leptin and BDNF levels in plasma extracted before ingestion and 30', 60', and 120' after ingestion. Hunger, measured on a 100-point visual analogue scale before ingestion and 60' and 120' after ingestion.Fasting BDNF levels were lower in PWS than in controls (p = 0.05. Postprandially, PWS patients showed only a truncated early peak in BDNF, and their BDNF levels at 60' and 120' were lower compared with lean controls (p<0.05. Leptin was higher in PWS patients than in controls at all time points (p<0.001. PWS patients were hungrier than controls before and after eating. The probability of being hungry was associated with baseline BDNF levels: every 50-unit increment in BDNF decreased the odds of being hungry by 22% (OR: 0.78, 95%CI: 0.65-0.94. In uniparental disomy, the odds of being hungry decreased by 66% (OR: 0.34, 90%CI: 0.13-0.9. Postprandial leptin patterns did no differ among genetic subtypes.Low baseline BDNF levels and lack of postprandial peak may contribute to persistent hunger after meals. Uniparental disomy is the genetic subtype of PWS least affected by these factors.

  14. Time allocation between feeding and incubation in uniparental arctic-breeding shorebirds: energy reserves provide leeway in a tight schedule

    NARCIS (Netherlands)

    Tulp, I.Y.M.; Schekkerman, H.

    2006-01-01

    Birds with uniparental incubation may face a time allocation problem between incubation and feeding. Eggs need regular warming to hatch successfully, but the parent must leave the nest to feed and safeguard its own survival. Time allocation during incubation is likely to depend on factors

  15. Uniparental genetic markers in South Amerindians

    Directory of Open Access Journals (Sweden)

    Rafael Bisso-Machado

    2012-01-01

    Full Text Available A comprehensive review of uniparental systems in South Amerindians was undertaken. Variability in the Y-chromosome haplogroups were assessed in 68 populations and 1,814 individuals whereas that of Y-STR markers was assessed in 29 populations and 590 subjects. Variability in the mitochondrial DNA (mtDNA haplogroup was examined in 108 populations and 6,697 persons, and sequencing studies used either the complete mtDNA genome or the highly variable segments 1 and 2. The diversity of the markers made it difficult to establish a general picture of Y-chromosome variability in the populations studied. However, haplogroup Q1a3a* was almost always the most prevalent whereas Q1a3* occurred equally in all regions, which suggested its prevalence among the early colonizers. The STR allele frequencies were used to derive a possible ancient Native American Q-clade chromosome haplotype and five of six STR loci showed significant geographic variation. Geographic and linguistic factors moderately influenced the mtDNA distributions (6% and 7%, respectively and mtDNA haplogroups A and D correlated positively and negatively, respectively, with latitude. The data analyzed here provide rich material for understanding the biological history of South Amerindians and can serve as a basis for comparative studies involving other types of data, such as cultural data.

  16. Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

    Directory of Open Access Journals (Sweden)

    Artur Brandt

    Full Text Available We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy (UPD limited to 11p15.5-p15.2 including the IGF2 gene. The tumor carried a heterozygous p.T41A mutation in CTNNB1. Cells established from the tumor carried the same chromosome 11 aberration, but a different, homozygous p.S45Δ CTNNB1 mutation. Uniparental disomy (UPD 3p21.3pter lead to the homozygous CTNNB1 mutation. The tumor cell line was immortalized using the catalytic subunit of human telomerase (hTERT in conjunction with a novel thermolabile mutant (U19dl89-97tsA58 of SV40 large T antigen (LT. This cell line is cytogenetically stable and can be grown indefinitely representing a valuable tool to study the effect of a complete lack of WT1 in tumor cells. The origin/fate of Wilms tumors with WT1 mutations is currently poorly defined. Here we studied the expression of several genes expressed in early kidney development, e.g. FOXD1, PAX3, SIX1, OSR1, OSR2 and MEIS1 and show that these are expressed at similar levels in the parental and the immortalized Wilms10 cells. In addition the limited potential for muscle/ osteogenic/ adipogenic differentiation similar to all other WT1 mutant cell lines is also observed in the Wilms10 tumor cell line and this is retained in the immortalized cells. In summary these Wilms10 cells are a valuable model system for functional studies of WT1 mutant cells.

  17. Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15

    Science.gov (United States)

    Brandt, Artur; Löhers, Katharina; Beier, Manfred; Leube, Barbara; de Torres, Carmen; Mora, Jaume; Arora, Parineeta; Jat, Parmjit S.; Royer-Pokora, Brigitte

    2016-01-01

    We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy (UPD) limited to 11p15.5-p15.2 including the IGF2 gene. The tumor carried a heterozygous p.T41A mutation in CTNNB1. Cells established from the tumor carried the same chromosome 11 aberration, but a different, homozygous p.S45Δ CTNNB1 mutation. Uniparental disomy (UPD) 3p21.3pter lead to the homozygous CTNNB1 mutation. The tumor cell line was immortalized using the catalytic subunit of human telomerase (hTERT) in conjunction with a novel thermolabile mutant (U19dl89-97tsA58) of SV40 large T antigen (LT). This cell line is cytogenetically stable and can be grown indefinitely representing a valuable tool to study the effect of a complete lack of WT1 in tumor cells. The origin/fate of Wilms tumors with WT1 mutations is currently poorly defined. Here we studied the expression of several genes expressed in early kidney development, e.g. FOXD1, PAX3, SIX1, OSR1, OSR2 and MEIS1 and show that these are expressed at similar levels in the parental and the immortalized Wilms10 cells. In addition the limited potential for muscle/ osteogenic/ adipogenic differentiation similar to all other WT1 mutant cell lines is also observed in the Wilms10 tumor cell line and this is retained in the immortalized cells. In summary these Wilms10 cells are a valuable model system for functional studies of WT1 mutant cells. PMID:27213811

  18. Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.

    Science.gov (United States)

    Bonnot, O; Cohen, D; Thuilleaux, D; Consoli, A; Cabal, S; Tauber, M

    2016-01-01

    Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15). We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted. Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage. Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects. Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for

  19. Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage

    Science.gov (United States)

    Álvarez-Iglesias, Vanesa; Fondevila, Manuel; Blanco-Verea, Alejandro; Carracedo, Ángel; Pascali, Vincenzo L.; Capelli, Cristian

    2012-01-01

    Background According to archaeological records and historical documentation, Italy has been a melting point for populations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country. Methods/Principal Findings A total of 583 individuals were sampled from across the Italian Peninsula, from ten distant (if homogeneous by language) ethnic communities — and from two linguistic isolates (Ladins, Grecani Salentini). All samples were first typed for the mitochondrial DNA (mtDNA) control region and selected coding region SNPs (mtSNPs). This data was pooled for analysis with 3,778 mtDNA control-region profiles collected from the literature. Secondly, a set of Y-chromosome SNPs and STRs were also analyzed in 479 individuals together with a panel of autosomal ancestry informative markers (AIMs) from 441 samples. The resulting genetic record reveals clines of genetic frequencies laid according to the latitude slant along continental Italy – probably generated by demographical events dating back to the Neolithic. The Ladins showed distinctive, if more recent structure. The Neolithic contribution was estimated for the Y-chromosome as 14.5% and for mtDNA as 10.5%. Y-chromosome data showed larger differentiation between North, Center and South than mtDNA. AIMs detected a minor sub-Saharan component; this is however higher than for other European non-Mediterranean populations. The same signal of sub-Saharan heritage was also evident in uniparental markers. Conclusions/Significance Italy shows patterns of molecular variation mirroring other European countries, although some heterogeneity exists based on different analysis and molecular markers. From North to South, Italy shows clinal patterns that were most likely modulated during Neolithic times. PMID:23251386

  20. Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage.

    Science.gov (United States)

    Brisighelli, Francesca; Álvarez-Iglesias, Vanesa; Fondevila, Manuel; Blanco-Verea, Alejandro; Carracedo, Angel; Pascali, Vincenzo L; Capelli, Cristian; Salas, Antonio

    2012-01-01

    According to archaeological records and historical documentation, Italy has been a melting point for populations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country. A total of 583 individuals were sampled from across the Italian Peninsula, from ten distant (if homogeneous by language) ethnic communities--and from two linguistic isolates (Ladins, Grecani Salentini). All samples were first typed for the mitochondrial DNA (mtDNA) control region and selected coding region SNPs (mtSNPs). This data was pooled for analysis with 3,778 mtDNA control-region profiles collected from the literature. Secondly, a set of Y-chromosome SNPs and STRs were also analyzed in 479 individuals together with a panel of autosomal ancestry informative markers (AIMs) from 441 samples. The resulting genetic record reveals clines of genetic frequencies laid according to the latitude slant along continental Italy--probably generated by demographical events dating back to the Neolithic. The Ladins showed distinctive, if more recent structure. The Neolithic contribution was estimated for the Y-chromosome as 14.5% and for mtDNA as 10.5%. Y-chromosome data showed larger differentiation between North, Center and South than mtDNA. AIMs detected a minor sub-Saharan component; this is however higher than for other European non-Mediterranean populations. The same signal of sub-Saharan heritage was also evident in uniparental markers. Italy shows patterns of molecular variation mirroring other European countries, although some heterogeneity exists based on different analysis and molecular markers. From North to South, Italy shows clinal patterns that were most likely modulated during Neolithic times.

  1. The clinical geneticist and the evaluation of failure to thrive versus failure to feed.

    Science.gov (United States)

    Rabago, Jillian; Marra, Kayt; Allmendinger, Nikki; Shur, Natasha

    2015-12-01

    Common clinical genetic referrals for the pediatric patient include a single major or multiple minor anomalies, dysmorphic features, especially when accompanied by developmental delay or intellectual disability, and failure to thrive (FTT). This review provides pediatric definitions of FTT and the genetic differential for FTT, which includes chromosomal disorders, microdeletion/duplication syndromes, uniparental disomy/methylation disorder, disorders of DNA repair, teratogens, metabolic syndromes, and skeletal dysplasias. Three clinical genetics cases highlight challenges in deciphering the cause of FTT. The review concludes with a ten-step approach that might improve diagnostic ability in differentiating FTT cases (those with genetic or other metabolic causes) from "failure to feed," in other words FTT as the direct result of neglect and/or child abuse. © 2015 Wiley Periodicals, Inc.

  2. Non-traditional inheritance

    International Nuclear Information System (INIS)

    Hall, J.G.

    1992-01-01

    In the last few years, several non-traditional forms of inheritance have been recognized. These include mosaicism, cytoplasmic inheritance, uniparental disomy, imprinting, amplification/anticipation, and somatic recombination. Genomic imprinting (GI) is the dependence of the phenotype on the sex of the transmitting parent. GI in humans seems to involve growth, behaviour, and survival in utero. The detailed mechanism of genomic imprinting is not known, but it seems that some process is involved in turning a gene off; this probably involves two genes, one of which produces a product that turns a gene off, and the gene that is itself turned off. The process of imprinting (turning off) may be associated with methylation. Erasure of imprinting can occur, and seems to be associated with meiosis. 10 refs

  3. Future directions in research

    International Nuclear Information System (INIS)

    Hall, J.G.; Lopez-Rangel, E.

    1996-01-01

    New studies of the effects of ionizing radiation on the human genome must include not only its effect on the sequence of a particular gene, but must also consider the possible location, complete structure, regulation, and function of the gene as well. Historically, genetic disorders have been characterized as single gene disorders, chromosomal aberrations, and multifactorial disorders. Now, however, the following have to be considered: mosaicism, genomic imprinting, uniparental disomy, cytoplasmic inheritance, allelic expansion. Molecular techniques that may be useful in analyzing radiation damage include Fluorescent In Situ Hybridization and the Polymerase Chain Reaction. The effect of radiation on the fibroblast growth factor receptor 3, damage to which is associated with the development of achondroplasia, is recommended as a fruitful, if complicated, research topic

  4. Genetic analysis of repeated, biparental, diploid, hydatidiform moles

    DEFF Research Database (Denmark)

    Sunde, Lone; Vejerslev, Lars O.; Jensen, Mie Poulsen

    1993-01-01

    for the abnormal development can be envisaged, environmental as well as genetic. To conform to current ideas of molar pathogenesis, it is suggested that the present conceptuses might have arisen from imbalances in imprinted genomic regions. This could be a consequence of uniparental disomy in critical regions......A woman presented with five consecutive pregnancies displaying molar morphology. In the fifth pregnancy, a non-malformed, liveborn infant was delivered. Genetic analyses (RFLP analysis, cytogenetics, flow cytometry) were performed in pregnancies II-V. It was demonstrated that these pregnancies...... originated in separate conceptions, all conceptuses were diploid, and all had maternally as well as paternally derived genetic markers. By cytogenetic analysis, aberrant heteromorphisms were noted; no other abnormalities were observed in chromosome structure or in DNA sequence. Many different causes...

  5. Clinical spectrum of silver - Russell syndrome

    Directory of Open Access Journals (Sweden)

    Sapna N.K. Varma

    2013-01-01

    Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

  6. Uniparental mitochondrial DNA inheritance is not affected in Ustilago maydis Δatg11 mutants blocked in mitophagy.

    Science.gov (United States)

    Wagner-Vogel, Gaby; Lämmer, Frauke; Kämper, Jörg; Basse, Christoph W

    2015-02-06

    Maternal or uniparental inheritance (UPI) of mitochondria is generally observed in sexual eukaryotes, however, the underlying mechanisms are diverse and largely unknown. Recently, based on the use of mutants blocked in autophagy, it has been demonstrated that autophagy is required for strict maternal inheritance in the nematode Caenorhabditis elegans. Uniparental mitochondrial DNA (mtDNA) inheritance has been well documented for numerous fungal species, and in particular, has been shown to be genetically governed by the mating-type loci in the isogamous species Cryptococcus neoformans, Phycomyces blakesleeanus and Ustilago maydis. Previously, we have shown that the a2 mating-type locus gene lga2 is decisive for UPI during sexual development of U. maydis. In axenic culture, conditional overexpression of lga2 triggers efficient loss of mtDNA as well as mitophagy. To assess a functional relationship, we have investigated UPI in U. maydis Δatg11 mutants, which are blocked in mitophagy. This study has revealed that Δatg11 mutants are not affected in pathogenic development and this has allowed us to analyse UPI under comparable developmental conditions between mating-compatible wild-type and mutant strain combinations. Explicitly, we have examined two independent strain combinations that gave rise to different efficiencies of UPI. We demonstrate that in both cases UPI is atg11-independent, providing evidence that mitophagy is not critical for UPI in U. maydis, even under conditions of strict UPI. Until now, analysis of a role of mitophagy in UPI has not been reported for microbial species. Our study suggests that selective autophagy does not contribute to UPI in U. maydis, but is rather a consequence of selective mtDNA elimination in response to mitochondrial damage.

  7. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    Science.gov (United States)

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  8. Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA){sub n} dinucleotide repeat polymorphisms

    Energy Technology Data Exchange (ETDEWEB)

    Lerer, I.; Meiner, V.; Pashut-Lavon, I.; Abeliovich, D.

    1994-08-01

    We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA){sub n} dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by the segregation of (CA){sub n}, probably due to paternal microdeletion in the PWs critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS. 31 refs., 2 figs., 3 tabs.

  9. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11)

    Energy Technology Data Exchange (ETDEWEB)

    Walter, C.A.; Moore, C.M.; Kaye, C.I. [Univ. of Texas Health Science Center, San Antonio, TX (United States)] [and others

    1996-11-11

    Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Postnatally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol{reg_sign}. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14. 41 refs., 5 figs., 2 tabs.

  10. Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

    Science.gov (United States)

    Marcheco-Teruel, Beatriz; Parra, Esteban J; Fuentes-Smith, Evelyn; Salas, Antonio; Buttenschøn, Henriette N; Demontis, Ditte; Torres-Español, María; Marín-Padrón, Lilia C; Gómez-Cabezas, Enrique J; Alvarez-Iglesias, Vanesa; Mosquera-Miguel, Ana; Martínez-Fuentes, Antonio; Carracedo, Angel; Børglum, Anders D; Mors, Ole

    2014-07-01

    We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively. The Eastern provinces of Cuba showed relatively higher African and Native American contributions than the Western provinces. In particular, the highest proportion of African ancestry was observed in the provinces of Guantánamo (40%) and Santiago de Cuba (39%), and the highest proportion of Native American ancestry in Granma (15%), Holguín (12%) and Las Tunas (12%). We found evidence of substantial population stratification in the current Cuban population, emphasizing the need to control for the effects of population stratification in association studies including individuals from Cuba. The results of the analyses of uniparental markers were concordant with those observed in the autosomes. These geographic patterns in admixture proportions are fully consistent with historical and archaeological information. Additionally, we identified a sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side, and higher Native American and African contributions from the maternal side. This sex-biased contribution was particularly evident for Native American ancestry. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.

  11. Eating behavior, prenatal and postnatal growth in Angelman syndrome

    DEFF Research Database (Denmark)

    Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida

    2014-01-01

    to children with a deletion. At birth, one child showed microcephaly. At five years of age, microcephaly was observed in half of the deletion cases, but in none Of the cases with a UBE3A mutation or pUPD. The apparently normal cranial growth in the UBE3A and pUPD patients should however be regarded......The objectives of the present study were to investigate eating behavior and growth parameters in Angelman syndrome. We included 39 patients with Angelman syndrome. Twelve cases had a larger Class I deletion, eighteen had a smaller Class II deletion, whereas paternal uniparental disomy (p......UPD) or a verified UBE3A mutation were present in five and four cases, respectively. Eating behavior was assessed by a questionnaire. Anthropometric measures were obtained from medical records and compared to Danish reference data. Children with pUPD had significantly larger birth weight and birth length than...

  12. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

  13. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

    Energy Technology Data Exchange (ETDEWEB)

    Saitoh, S.; Cassidy, S.B.; Conroy, J.M. [Univ. of Hospitals of Cleveland, OH (United States)] [and others

    1997-01-20

    Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13, and thus appear to have a mutation in the imprinting process for this region. Here we describe detailed clinical findings of five AS imprinting mutation patients (three families) and two PWS imprinting mutation patients (one new family). All these patients have essentially the classical clinical phenotype for the respective syndrome, except that the incidence of microcephaly is lower in imprinting mutation AS patients than in deletion AS patients. Furthermore, imprinting mutation AS and PWS patients do not typically have hypopigmentation, which is commonly found in patients with the usual large deletion. Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ZNF127, PW71 (D15S63), and SNRPN loci. The latter two probes have clear advantages in the simple molecular diagnostic analysis of PWS and AS patients with an imprinting mutation, as has been found for typical deletion or UPD PWS and AS cases. With the recent finding of inherited microdeletions in PWS and AS imprinting mutation families, our studies define a new class of these two syndromes. The clinical and molecular identification of these PWS and AS patients has important genetic counseling consequences. 49 refs., 4 figs., 3 tabs.

  14. Treatment of a Prader-Willi Patient with Recurrent Catatonia

    Directory of Open Access Journals (Sweden)

    Hana M. Poser

    2015-01-01

    Full Text Available Prader-Willi is a genetic disorder characterized by neonatal hypotonia, hyperphagia, short stature, hypogonadism, and mental delay. This disorder can result from multiple mechanisms, most commonly a deletion of paternal chromosome 15, leaving a single maternally derived chromosome 15. Individuals who have a maternal uniparental disomy of chromosome 15 have a higher risk for developing psychosis compared to other forms of Prader-Willi. The following report details the treatment course of a 24-year-old female with Prader-Willi and recurrent catatonia. The patient initially had a positive lorazepam challenge test but subsequently failed treatment with benzodiazepines. She then received eight electroconvulsive therapy (ECT treatments after which she showed improvement from initial catatonic state. However, the resolution in her symptoms did not follow a linear course but would show periods of improvement followed by a return of catatonic features. This case provides an example of the complexity of treatment of a patient with a genetic disorder and recurrent catatonia.

  15. First Case Report of Prader–Willi-Like Syndrome in Colombia

    Directory of Open Access Journals (Sweden)

    Estephania Candelo

    2018-03-01

    Full Text Available Background: Prader–Willi-like syndrome (PWLS is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11–q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome.Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1–q21.Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

  16. H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia

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    Marcus Vinícius de Matos Gomes

    2005-01-01

    Full Text Available Beckwith-Wiedemann syndrome (BWS is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. The cause of isolated hemihyperplasia (IHH is unknown but might be due to partial or incomplete expression of BWS because both these conditions share predisposition for the same types of neoplasias. We investigated the methylation pattern of the putative imprinting control region H19DMR using peripheral blood from 12 patients, six with clinical features of BWS and six with IHH. All the patients had normal karyotypes and paternal uniparental disomy (UPD was excluded in 10 informative cases. The normal H19DMR methylation pattern was found in eight informative patients, indicating that H19DMR methylation was not related to their condition. We suggest that the absence of neoplasias in the BWS and IHH patients studied might be related to the absence of UPD and to the presence of normal H19DMR methylation.

  17. First Case Report of Prader-Willi-Like Syndrome in Colombia.

    Science.gov (United States)

    Candelo, Estephania; Feinstein, Max M; Ramirez-Montaño, Diana; Gomez, Juan F; Pachajoa, Harry

    2018-01-01

    Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome. Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1-q21. Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

  18. Residential distance to major roadways and semen quality, sperm DNA integrity, chromosomal disomy, and serum reproductive hormones among men attending a fertility clinic.

    Science.gov (United States)

    Nassan, Feiby L; Chavarro, Jorge E; Mínguez-Alarcón, Lidia; Williams, Paige L; Tanrikut, Cigdem; Ford, Jennifer B; Dadd, Ramace; Perry, Melissa J; Hauser, Russ; Gaskins, Audrey J

    2018-06-01

    We examined associations of residential distance to major roadways, as a proxy for traffic-related air pollution exposures, with sperm characteristics and male reproductive hormones. The cohort included 797 men recruited from Massachusetts General Hospital Fertility Center between 2000 and 2015 to participate in fertility research studies. Men reported their residential addresses at enrollment and provided 1-6 semen samples and a blood sample during follow-up. We estimated the Euclidean distance to major roadways (e.g. interstates and highways: limited access highways, multi-lane highways (not limited access), other numbered routes, and major roads) using information from the Massachusetts Department of Geographic Information Systems. Semen parameters (1238 semen samples), sperm DNA integrity (389 semen samples), chromosomal disomy (101 semen samples), and serum reproductive hormones (405 serum samples) were assessed following standard procedures. Men in this cohort were primarily Caucasian (86%), not current smokers (92%), with a college or higher education (88%), and had an average age of 36 years and BMI of 27.7 kg/m 2 . The median (interquartile range) residential distance to a major roadway was 111 (37, 248) meters. Residential proximity to major roadways was not associated with semen parameters, sperm DNA integrity, chromosomal disomy, or serum reproductive hormone concentrations. The adjusted percent change (95% CI) in semen quality parameters associated with a 500 m increase in residential distance to a major roadway was -1.0% (-6.3, 4.5) for semen volume, 4.3% (-5.8, 15.7) for sperm concentration, 3.1% (-7.2, 14.5) for sperm count, 1.1% (-1.2, 3.4) for % total motile sperm, and 0.1% (-0.3, 0.5) for % morphologically normal sperm. Results were consistent when we modeled the semen parameters dichotomized according to WHO 2010 reference values. Residential distance to major roadways, as a proxy for traffic-related air pollution exposure, was not related

  19. Pursuing the quest for better understanding the taxonomic distribution of the system of doubly uniparental inheritance of mtDNA

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    Arthur Gusman

    2016-12-01

    Full Text Available There is only one exception to strict maternal inheritance of mitochondrial DNA (mtDNA in the animal kingdom: a system named doubly uniparental inheritance (DUI, which is found in several bivalve species. Why and how such a radically different system of mitochondrial transmission evolved in bivalve remains obscure. Obtaining a more complete taxonomic distribution of DUI in the Bivalvia may help to better understand its origin and function. In this study we provide evidence for the presence of sex-linked heteroplasmy (thus the possible presence of DUI in two bivalve species, i.e., the nuculanoid Yoldia hyperborea(Gould, 1841and the veneroid Scrobicularia plana(Da Costa,1778, increasing the number of families in which DUI has been found by two. An update on the taxonomic distribution of DUI in the Bivalvia is also presented.

  20. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).

    Science.gov (United States)

    Bastepe, Murat; Altug-Teber, Ozge; Agarwal, Chhavi; Oberfield, Sharon E; Bonin, Michael; Jüppner, Harald

    2011-03-01

    Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ resistance to parathyroid hormone in the absence of Albright's hereditary osteodystrophy. Patients affected by this disorder present with imprinting defects in the complex GNAS locus. Microdeletions within STX16 or GNAS have been identified in familial cases with PHP-Ib, but the molecular cause of the GNAS imprinting defects in sporadic PHP-Ib cases remains poorly defined. We now report a case with sporadic PHP-Ib for whom a SNPlex analysis revealed loss of the maternal GNAS allele. Further analysis of the entire genome with a 100K SNP chip identified a paternal uniparental isodisomy affecting the entire chromosome 20 without evidence for another chromosomal abnormality. Our findings explain the observed GNAS methylation changes and the patient's hormone resistance, and furthermore suggest that chromosome 20 harbors, besides GNAS, no additional imprinted region that contributes to the clinical and laboratory phenotype. Copyright © 2010 Elsevier Inc. All rights reserved.

  1. Genetic perspective of uniparental mitochondrial DNA landscape on the Punjabi population, Pakistan.

    Science.gov (United States)

    Bhatti, Shahzad; Abbas, Sana; Aslamkhan, Muhammad; Attimonelli, Marcella; Trinidad, Magali Segundo; Aydin, Hikmet Hakan; de Souza, Erica Martinha Silva; Gonzalez, Gerardo Rodriguez

    2017-07-26

    To investigate the uniparental genetic structure of the Punjabi population from mtDNA aspect and to set up an appropriate mtDNA forensic database, we studied maternally unrelated Punjabi (N = 100) subjects from two caste groups (i.e. Arain and Gujar) belonging to territory of Punjab. The complete control region was elucidated by Sanger sequencing and the subsequent 58 different haplotypes were designated into appropriate haplogroups according to the most recently updated mtDNA phylogeny. We found a homogenous dispersal of Eurasian haplogroup uniformity among the Punjab Province and exhibited a strong connotation with the European populations. Punjabi castes are primarily a composite of substantial South Asian, East Asian and West Eurasian lineages. Moreover, for the first time we have defined the newly sub-haplogroup M52b1 characterized by 16223 T, 16275 G and 16438 A in Gujar caste. The vast array of mtDNA variants displayed in this study suggested that the haplogroup composition radiates signals of extensive genetic conglomeration, population admixture and demographic expansion that was equipped with diverse origin, whereas matrilineal gene pool was phylogeographically homogenous across the Punjab. This context was further fully acquainted with the facts supported by PCA scatterplot that Punjabi population clustered with South Asian populations. Finally, the high power of discrimination (0.8819) and low random match probability (0.0085%) proposed a worthy contribution of mtDNA control region dataset as a forensic database that considered a gold standard of today to get deeper insight into the genetic ancestry of contemporary matrilineal phylogeny.

  2. Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).

    Science.gov (United States)

    Kurosawa, Kenji; Tanoshima-Takei, Miki; Yamamoto, Toshiyuki; Ishikawa, Hiroshi; Masuno, Mitsuo; Tanaka, Yukichi; Yamanaka, Michiko

    2012-06-01

    We report a female fetus with sirenomelia with 46,X,t(X;16)(p11.23;p12.3) de novo. Fluorescence in situ hybridization (FISH) with bacterial artificial chromosomes were employed for narrowing down the breakpoint regions. On chromosome 16, the breakpoint was mapped in the region of RP11-453F10 (19 920 640-20 118 153 bp from 16pter). On chromosome X, the breakpoint was mapped in the region of RP11-794A15 (47 333 744-47 524 066 bp from Xpter). This is the first case report of sirenomelia associated with translocations. The abnormal phenotype, associated with a balanced translocation, was caused by deletion or breakage of dosage-sensitive genes of the breakpoint, disruption of an imprinted gene, or uniparental disomy. Although the parental origin of normal 16 and der(16) remained undetermined, this case will provide insight into the pathogenetic mechanism of sirenomelia. © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

  3. Clonal evolution through loss of chromosomes and subsequent polyploidization in chondrosarcoma.

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    Linda Olsson

    Full Text Available Near-haploid chromosome numbers have been found in less than 1% of cytogenetically reported tumors, but seem to be more common in certain neoplasms including the malignant cartilage-producing tumor chondrosarcoma. By a literature survey of published karyotypes from chondrosarcomas we could confirm that loss of chromosomes resulting in hyperhaploid-hypodiploid cells is common and that these cells may polyploidize. Sixteen chondrosarcomas were investigated by single nucleotide polymorphism (SNP array and the majority displayed SNP patterns indicative of a hyperhaploid-hypodiploid origin, with or without subsequent polyploidization. Except for chromosomes 5, 7, 19, 20 and 21, autosomal loss of heterozygosity was commonly found, resulting from chromosome loss and subsequent duplication of monosomic chromosomes giving rise to uniparental disomy. Additional gains, losses and rearrangements of genetic material, and even repeated rounds of polyploidization, may affect chondrosarcoma cells resulting in highly complex karyotypes. Loss of chromosomes and subsequent polyploidization was not restricted to a particular chondrosarcoma subtype and, although commonly found in chondrosarcoma, binucleated cells did not seem to be involved in these events.

  4. Chromosomal Abnormalities Associated With Omphalocele

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    Chih-Ping Chen

    2007-03-01

    Full Text Available Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q, dup(11p, inv(11, dup(1q, del(1q, dup(4q, dup(5p, dup(6q, del(9p, dup(15q, dup(17q, Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

  5. Clonal evolution through loss of chromosomes and subsequent polyploidization in chondrosarcoma.

    Science.gov (United States)

    Olsson, Linda; Paulsson, Kajsa; Bovée, Judith V M G; Nord, Karolin H

    2011-01-01

    Near-haploid chromosome numbers have been found in less than 1% of cytogenetically reported tumors, but seem to be more common in certain neoplasms including the malignant cartilage-producing tumor chondrosarcoma. By a literature survey of published karyotypes from chondrosarcomas we could confirm that loss of chromosomes resulting in hyperhaploid-hypodiploid cells is common and that these cells may polyploidize. Sixteen chondrosarcomas were investigated by single nucleotide polymorphism (SNP) array and the majority displayed SNP patterns indicative of a hyperhaploid-hypodiploid origin, with or without subsequent polyploidization. Except for chromosomes 5, 7, 19, 20 and 21, autosomal loss of heterozygosity was commonly found, resulting from chromosome loss and subsequent duplication of monosomic chromosomes giving rise to uniparental disomy. Additional gains, losses and rearrangements of genetic material, and even repeated rounds of polyploidization, may affect chondrosarcoma cells resulting in highly complex karyotypes. Loss of chromosomes and subsequent polyploidization was not restricted to a particular chondrosarcoma subtype and, although commonly found in chondrosarcoma, binucleated cells did not seem to be involved in these events.

  6. Cognitive and behavioural aspects of Prader-Willi syndrome.

    Science.gov (United States)

    Rice, Lauren J; Einfeld, Stewart L

    2015-03-01

    To provide a review of the recent advances in the diagnosis and treatment of psychiatric disorders in Prader-Willi syndrome (PWS). Research in the last 12 months has provided a descriptive prognosis of psychosis in PWS and highlighted the possible genes associated with the increased risk of psychosis for those with maternal uniparental disomy (mUPD). Several studies investigating social and communication skills have shown people with PWS to have difficulty with core, receptive and expressive language skills, interpreting emotional valence in faces, playing with children of their own age, understanding personal space and a developmental delay in the theory of mind. These social and communication deficits are often more pronounced in those with mUPD. Two recent clinical trials of oxytocin provide mixed results and highlight the need for an improved understanding of the neurobiological characteristics of the PWS brain. A recent pilot study suggests N-acetylcysteine may be a viable treatment for skin picking. Recent advances have contributed to our understanding of the emotional and behavioural problems associated with PWS, and provided directions for further research.

  7. Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.

    Science.gov (United States)

    Bragagnolo, Silvia; Colovati, Mileny E S; Guilherme, Roberta S; Dantas, Anelisa G; de Souza, Malú Zamariolli; de Soares, Maria F; Melaragno, Maria I; Perez, Ana B

    2016-01-01

    Wolf-Hirschhorn syndrome (WHS) is a contiguous gene and multiple malformation syndrome that results from a deletion in the 4p16.3 region. We describe here a 6-month-old girl that presented with WHS features but also displayed unusual findings, such as epibulbar dermoid in the left eye, ear tags, and left microtia. Although on G-banding her karyotype appeared to be normal, chromosomal microarray analysis revealed an ∼13-Mb 4p16.3p15.33 deletion and an ∼9-Mb Xp22.33p22.31 duplication, resulting from a balanced maternal t(X;4)(p22.31;p15.33) translocation. The patient presented with functional Xp disomy due to an unbalanced X-autosome translocation, a rare cytogenetic finding in females with unbalanced rearrangements. Sequencing of both chromosome breakpoints detected no gene disruption. To the best of our knowledge, this is the first patient described in the literature with WHS and epibulbar dermoid, a typical characteristic of the oculoauriculovertebral spectrum (OAVS). Our data suggest that possible candidate genes for OAVS may have been deleted along with the WHS critical region. © 2016 S. Karger AG, Basel.

  8. Biallelic germline and somatic mutations in malignant mesothelioma: multiple mutations in transcription regulators including mSWI/SNF genes.

    Science.gov (United States)

    Yoshikawa, Yoshie; Sato, Ayuko; Tsujimura, Tohru; Otsuki, Taiichiro; Fukuoka, Kazuya; Hasegawa, Seiki; Nakano, Takashi; Hashimoto-Tamaoki, Tomoko

    2015-02-01

    We detected low levels of acetylation for histone H3 tail lysines in malignant mesothelioma (MM) cell lines resistant to histone deacetylase inhibitors. To identify the possible genetic causes related to the low histone acetylation levels, whole-exome sequencing was conducted with MM cell lines established from eight patients. A mono-allelic variant of BRD1 was common to two MM cell lines with very low acetylation levels. We identified 318 homozygous protein-damaging variants/mutations (18-78 variants/mutations per patient); annotation analysis showed enrichment of the molecules associated with mammalian SWI/SNF (mSWI/SNF) chromatin remodeling complexes and co-activators that facilitate initiation of transcription. In seven of the patients, we detected a combination of variants in histone modifiers or transcription factors/co-factors, in addition to variants in mSWI/SNF. Direct sequencing showed that homozygous mutations in SMARCA4, PBRM1 and ARID2 were somatic. In one patient, homozygous germline variants were observed for SMARCC1 and SETD2 in chr3p22.1-3p14.2. These exhibited extended germline homozygosity and were in regions containing somatic mutations, leading to a loss of BAP1 and PBRM1 expression in MM cell line. Most protein-damaging variants were heterozygous in normal tissues. Heterozygous germline variants were often converted into hemizygous variants by mono-allelic deletion, and were rarely homozygous because of acquired uniparental disomy. Our findings imply that MM might develop through the somatic inactivation of mSWI/SNF complex subunits and/or histone modifiers, including BAP1, in subjects that have rare germline variants of these transcription regulators and/or transcription factors/co-factors, and in regions prone to mono-allelic deletion during oncogenesis. © 2014 UICC.

  9. Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome.

    Science.gov (United States)

    Lukoshe, Akvile; White, Tonya; Schmidt, Marcus N; van der Lugt, Aad; Hokken-Koelega, Anita C

    2013-10-22

    Prader-Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about developmental differences in brain structure in children with PWS. Thus, our aim was to investigate global brain morphology in children with PWS, including the comparison between different genetic subtypes of PWS. In addition, we performed exploratory cortical and subcortical focal analyses. High resolution structural magnetic resonance images were acquired in 20 children with genetically confirmed PWS (11 children carrying a deletion (DEL), 9 children with maternal uniparental disomy (mUPD)), and compared with 11 age- and gender-matched typically developing siblings as controls. Brain morphology measures were obtained using the FreeSurfer software suite. Both children with DEL and mUPD showed smaller brainstem volume, and a trend towards smaller cortical surface area and white matter volume. Children with mUPD had enlarged lateral ventricles and larger cortical cerebrospinal fluid (CSF) volume. Further, a trend towards increased cortical thickness was found in children with mUPD. Children with DEL had a smaller cerebellum, and smaller cortical and subcortical grey matter volumes. Focal analyses revealed smaller white matter volumes in left superior and bilateral inferior frontal gyri, right cingulate cortex, and bilateral precuneus areas associated with the default mode network (DMN) in children with mUPD. Children with PWS show signs of impaired brain growth. Those with mUPD show signs of early brain atrophy. In contrast, children with DEL show signs of fundamentally arrested, although not deviant brain development and presented few signs of cortical atrophy. Our results of global brain measurements suggest divergent neurodevelopmental patterns in children with DEL and mUPD.

  10. Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

    Science.gov (United States)

    Lukoshe, Akvile; Hokken-Koelega, Anita C; van der Lugt, Aad; White, Tonya

    2014-01-01

    Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite. Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in

  11. Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome

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    Masao Gito

    2015-01-01

    Full Text Available Objectives. This study measured gender differences in Prader-Willi syndrome (PWS in regard to the severity of behavioral symptoms. Methods. The Food Related Problem Questionnaire (FRPQ, the Aberrant Behavior Checklist Japanese Version, the Childhood Routines Inventory, the Pervasive Developmental Disorders Autism Society Japan Rating Scale, and Japanese ADHD-RS were administered to PWS patients (45 males aged 6 to 58 and 37 females aged 6 to 45. To examine the effects that gender and genotype have on the severity of each symptom, two-way ANOVAs were conducted. Results. Significant interactions were found only in regard to FRPQ scores, such as FRPQ total score (F(1, 78 = 8.43, p<0.01. The FRPQ of male deletion (DEL individuals was higher than that of female DEL and male mUPD. The FRPQ of male maternal uniparental disomy (mUPD was lower than that of female mUPD. Conclusions. In terms of problem behaviors, routines, autistic behaviors, and hyperactivity, no significant differences were found. Food-related behaviors in DEL were more severe in males, although those in mUPD were less severe in males.

  12. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

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    Greger, V.; Knoll, J.H.M.; Wagstaff, J.; Lalande, M. [and others

    1997-03-01

    Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangements in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.

  13. Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

    Science.gov (United States)

    Bocchini, Sarah; Fintini, Danilo; Grugni, Graziano; Boiani, Arianna; Convertino, Alessio; Crinò, Antonino

    2017-09-22

    Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.

  14. Doubly uniparental inheritance of mitochondria as a model system for studying germ line formation.

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    Liliana Milani

    Full Text Available BACKGROUND: Doubly Uniparental Inheritance (DUI of mitochondria occurs when both mothers and fathers are capable of transmitting mitochondria to their offspring, in contrast to the typical Strictly Maternal Inheritance (SMI. DUI was found in some bivalve molluscs, in which two mitochondrial genomes are inherited, one through eggs, the other through sperm. During male embryo development, spermatozoon mitochondria aggregate in proximity of the first cleavage furrow and end up in the primordial germ cells, while they are dispersed in female embryos. METHODOLOGY/PRINCIPAL FINDINGS: We used MitoTracker, microtubule staining and transmission electron microscopy to examine the mechanisms of this unusual distribution of sperm mitochondria in the DUI species Ruditapes philippinarum. Our results suggest that in male embryos the midbody deriving from the mitotic spindle of the first division concurs in positioning the aggregate of sperm mitochondria. Furthermore, an immunocytochemical analysis showed that the germ line determinant Vasa segregates close to the first cleavage furrow. CONCLUSIONS/SIGNIFICANCE: In DUI male embryos, spermatozoon mitochondria aggregate in a stable area on the animal-vegetal axis: in organisms with spiral segmentation this zone is not involved in cleavage, so the aggregation is maintained. Moreover, sperm mitochondria reach the same embryonic area in which also germ plasm is transferred. In 2-blastomere embryos, the segregation of sperm mitochondria in the same region with Vasa suggests their contribution in male germ line formation. In DUI male embryos, M-type mitochondria must be recognized by egg factors to be actively transferred in the germ line, where they become dominant replacing the Balbiani body mitochondria. The typical features of germ line assembly point to a common biological mechanism shared by DUI and SMI organisms. Although the molecular dynamics of the segregation of sperm mitochondria in DUI species are unknown

  15. The Genetic History of Peruvian Quechua‐Lamistas and Chankas: Uniparental DNA Patterns among Autochthonous Amazonian and Andean Populations

    Science.gov (United States)

    Sandoval, José R.; Lacerda, Daniela R.; Acosta, Oscar; Jota, Marilza S.; Robles‐Ruiz, Paulo; Salazar‐Granara, Alberto; Vieira, Pedro Paulo R.; Paz‐y‐Miño, César; Fujita, Ricardo

    2016-01-01

    Summary This study focuses on the genetic history of the Quechua‐Lamistas, inhabitants of the Lamas Province in the San Martin Department, Peru, who speak their own distinct variety of the Quechua family of languages. It has been suggested that different pre‐Columbian ethnic groups from the Peruvian Amazonia, like the Motilones or “shaven heads”, assimilated the Quechua language and then formed the current native population of Lamas. However, many Quechua‐Lamistas claim to be direct descendants of the Chankas, a famous pre‐Columbian indigenous group that escaped from Inca rule in the Andes. To investigate the Quechua‐Lamistas and Chankas’ ancestries, we compared uniparental genetic profiles (17 STRs of Q‐M3 Y‐chromosome and mtDNA complete control region haplotypes) among autochthonous Amazonian and Andean populations from Peru, Bolivia and Ecuador. The phylogeographic and population genetic analyses indicate a fairly heterogeneous ancestry for the Quechua‐Lamistas, while they are closely related to their neighbours who speak Amazonian languages, presenting no direct relationships with populations from the region where the ancient Chankas lived. On the other hand, the genetic profiles of self‐identified Chanka descendants living in Andahuaylas (located in the Apurimac Department, Peru, in the Central Andes) were closely related to those living in Huancavelica and the assumed Chanka Confederation area before the Inca expansion. PMID:26879156

  16. The Genetic History of Peruvian Quechua-Lamistas and Chankas: Uniparental DNA Patterns among Autochthonous Amazonian and Andean Populations.

    Science.gov (United States)

    Sandoval, José R; Lacerda, Daniela R; Acosta, Oscar; Jota, Marilza S; Robles-Ruiz, Paulo; Salazar-Granara, Alberto; Vieira, Pedro Paulo R; Paz-Y-Miño, César; Fujita, Ricardo; Santos, Fabricio R

    2016-03-01

    This study focuses on the genetic history of the Quechua-Lamistas, inhabitants of the Lamas Province in the San Martin Department, Peru, who speak their own distinct variety of the Quechua family of languages. It has been suggested that different pre-Columbian ethnic groups from the Peruvian Amazonia, like the Motilones or "shaven heads", assimilated the Quechua language and then formed the current native population of Lamas. However, many Quechua-Lamistas claim to be direct descendants of the Chankas, a famous pre-Columbian indigenous group that escaped from Inca rule in the Andes. To investigate the Quechua-Lamistas and Chankas' ancestries, we compared uniparental genetic profiles (17 STRs of Q-M3 Y-chromosome and mtDNA complete control region haplotypes) among autochthonous Amazonian and Andean populations from Peru, Bolivia and Ecuador. The phylogeographic and population genetic analyses indicate a fairly heterogeneous ancestry for the Quechua-Lamistas, while they are closely related to their neighbours who speak Amazonian languages, presenting no direct relationships with populations from the region where the ancient Chankas lived. On the other hand, the genetic profiles of self-identified Chanka descendants living in Andahuaylas (located in the Apurimac Department, Peru, in the Central Andes) were closely related to those living in Huancavelica and the assumed Chanka Confederation area before the Inca expansion. © 2016 John Wiley & Sons Ltd/University College London.

  17. 6q24 transient neonatal diabetes – how to manage while waiting for genetic results

    Directory of Open Access Journals (Sweden)

    Corina Ramona Nicolescu

    2016-11-01

    Full Text Available Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation.This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the 5th day of life hyperglycemia (180 mg/dl was noted and the next day the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide. Insulin infusion, initially intravenously and then subcutaneously was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump.At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain was genetically confirmed (paternal uniparental disomy of chromosome 6.There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features relies on timely clinical updates.

  18. Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

    Directory of Open Access Journals (Sweden)

    Dong Kyu Jin

    2011-02-01

    Full Text Available Prader-Willi syndrome (PWS is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11&#8211;q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2&#8211;q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

  19. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.

    Directory of Open Access Journals (Sweden)

    Masayo Kagami

    2010-06-01

    Full Text Available Human chromosome 14q32.2 harbors the germline-derived primary DLK1-MEG3 intergenic differentially methylated region (IG-DMR and the postfertilization-derived secondary MEG3-DMR, together with multiple imprinted genes. Although previous studies in cases with microdeletions and epimutations affecting both DMRs and paternal/maternal uniparental disomy 14-like phenotypes argue for a critical regulatory function of the two DMRs for the 14q32.2 imprinted region, the precise role of the individual DMR remains to be clarified. We studied an infant with upd(14pat body and placental phenotypes and a heterozygous microdeletion involving the IG-DMR alone (patient 1 and a neonate with upd(14pat body, but no placental phenotype and a heterozygous microdeletion involving the MEG3-DMR alone (patient 2. The results generated from the analysis of these two patients imply that the IG-DMR and the MEG3-DMR function as imprinting control centers in the placenta and the body, respectively, with a hierarchical interaction for the methylation pattern in the body governed by the IG-DMR. To our knowledge, this is the first study demonstrating an essential long-range imprinting regulatory function for the secondary DMR.

  20. SPAG6 regulates cell apoptosis through the TRAIL signal pathway in myelodysplastic syndromes.

    Science.gov (United States)

    Li, Xinxin; Yang, Bihui; Wang, Li; Chen, Liping; Luo, Xiaohua; Liu, Lin

    2017-05-01

    Myelodysplastic syndromes (MDSs) are a group of malignant clone hematopoietic stem-cell diseases, and the evolution and progression of MDS depend on the abnormal apoptosis of bone marrow cells. Our previous studies have indicated that sperm-associated antigen 6 (SPAG6), located in the uniparental disomy regions of myeloid cells, is overexpressed in patients with MDS as compared to controls, and SPAG6 can inhibit apoptosis of SKM-1. However, the concrete mechanism is still unclear. In the present study, it was found that the TNF-related apoptosis-inducing ligand (TRAIL)signal pathway was activated when the expression of SPAG6 was inhibited by SPAG6-shRNA lentivirus in SKM-1 cells. Additionally, the results of flow cytometry, Cell Counting Kit-8 assay and western blot analysis implied that the TRAIL signal pathway could be inhibited by a high expression of SPAG6. However, SPAG6 cannot influence the expression of TRAIL death receptors, except for FADD. Additionally the interaction between FADD and TRAIL death receptors also increased in SKM-1 cells infected with SPAG6-shRNA lentivirus. Thus, our study demonstrates that SPAG6 may regulate apoptosis in SKM-1 through the TRAIL signal pathway, indicating that SPAG6 could be a potential therapeutic target.

  1. Good cognitive performances in a child with Prader-Willi syndrome.

    Science.gov (United States)

    Nugnes, Rosa; Zito, Eugenio; Mozzillo, Enza; Camarca, Maria Erminia; Riccio, Maria Pia; Terrone, Gaetano; Melis, Daniela; Bravaccio, Carmela; Franzese, Adriana

    2013-11-15

    We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Raven's Progressive Matrices CPM, while the behavior was evaluated by K-SADS-PL and Child Behavior Checklist/4-18 to the parents.WISC-III test showed a Total Intelligence Quotient (T-IQ = 79) at the border level for age. The Verbal Intelligence Quotient (V-IQ) showed a lower score than the Performance Intelligence Quotient (P-IQ) (78 and 85, respectively). Raven's Matrices CPM showed an intelligence level at 75-90° percentile for age. Concerning behavioral evaluation, a difficulty in impulse control was observed, with persistent but controllable search for food, without a clear psychopathological meaning. Also according to K-SADS-PL no areas of psychopathological dimensions were detected. In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities.

  2. Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees.

    Science.gov (United States)

    Boattini, A; Sarno, S; Pedrini, P; Medoro, C; Carta, M; Tucci, S; Ferri, G; Alù, M; Luiselli, D; Pettener, D

    2015-02-01

    Social and cultural factors had a critical role in determining the genetic structure of Europe. Therefore, socially stratified populations may help to focus on specific episodes of European demographic history. In this study, we use uniparental markers to analyse the genetic structure of Partecipanza in San Giovanni in Persiceto (Northern Italy), a peculiar institution whose origins date back to the Middle Ages and whose members form the patrilineal descent of a group of founder families. From a maternal point of view (mtDNA), Partecipanza is genetically homogeneous with the rest of the population. However, we observed a significant differentiation for Y-chromosomes. In addition, by comparing 17 Y-STR profiles with deep-rooted paternal pedigrees, we estimated a Y-STR mutation rate equal to 3.90 * 10(-3) mutations per STR per generation and an average generation duration time of 33.38 years. When we used these values for tentative dating, we estimated 1300-600 years ago for the origins of the Partecipanza. These results, together with a peculiar Y-chromosomal composition and historical evidence, suggest that Germanic populations (Lombards in particular) settled in the area during the Migration Period (400-800 AD, approximately) and may have had an important role in the foundation of this community.

  3. Differences in microbiological profile between community-acquired, healthcare-associated and hospital-acquired infections.

    Science.gov (United States)

    Cardoso, Teresa; Ribeiro, Orquídea; Aragão, Irene; Costa-Pereira, Altamiro; Sarmento, António

    2013-01-01

    Microbiological profiles were analysed and compared for intra-abdominal, urinary, respiratory and bloodstream infections according to place of acquisition: community-acquired, with a separate analysis of healthcare-associated, and hospital-acquired. Prospective cohort study performed at a university tertiary care hospital over 1 year. Inclusion criteria were meeting the Centers for Disease Control definition of intra-abdominal, urinary, respiratory and bloodstream infections. A total of 1035 patients were included in the study. More than 25% of intra-abdominal infections were polymicrobial; multi-drug resistant gram-negatives were 38% in community-acquired, 50% in healthcare-associated and 57% in hospital-acquired. E. coli was the most prevalent among urinary infections: 69% in community-acquired, 56% in healthcare-associated and 26% in hospital-acquired; ESBL producers' pathogens were 10% in healthcare-associated and 3% in community-acquired and hospital-acquired. In respiratory infections Streptococcus pneumoniae was the most prevalent in community-acquired (54%) and MRSA in healthcare-associated (24%) and hospital-acquired (24%). A significant association was found between MRSA respiratory infection and hospitalization in the previous year (adjusted OR = 6.3), previous instrumentation (adjusted OR = 4.3) and previous antibiotic therapy (adjusted OR = 5.7); no cases were documented among patients without risk factors. Hospital mortality rate was 10% in community-acquired, 14% in healthcare-associated and 19% in hospital-acquired infection. This study shows that healthcare-associated has a different microbiologic profile than those from community or hospital acquired for the four main focus of infection. Knowledge of this fact is important because the existing guidelines for community-acquired are not entirely applicable for this group of patients.

  4. Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

    Directory of Open Access Journals (Sweden)

    Akvile Lukoshe

    Full Text Available BACKGROUND: Prader-Willi Syndrome (PWS is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. METHODS: High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL, 12 with maternal uniparental disomy (mUPD and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI was obtained using the FreeSurfer software suite. RESULTS: Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. CONCLUSIONS: These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to

  5. Clinico-Pathological Association of Delineated miRNAs in Uveal Melanoma with Monosomy 3/Disomy 3 Chromosomal Aberrations.

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    Nalini Venkatesan

    Full Text Available To correlate the differentially expressed miRNAs with clinico-pathological features in uveal melanoma (UM tumors harbouring chromosomal 3 aberrations among South Asian Indian cohort.Based on chromosomal 3 aberration, UM (n = 86 were grouped into monosomy 3 (M3; n = 51 and disomy 3 (D3; n = 35 by chromogenic in-situ hybridisation (CISH. The clinico-pathological features were recorded. miRNA profiling was performed in formalin fixed paraffin embedded (FFPE UM samples (n = 6 using Agilent, Human miRNA microarray, 8x15KV3 arrays. The association between miRNAs and clinico-pathological features were studied using univariate and multivariate analysis. miRNA-gene targets were predicted using Target-scan and MiRanda database. Significantly dys-regulated miRNAs were validated in FFPE UM (n = 86 and mRNAs were validated in frozen UM (n = 10 by qRT-PCR. Metastasis free-survival and miRNA expressions were analysed by Kaplen-Meier analysis in UM tissues (n = 52.Unsupervised analysis revealed 585 differentially expressed miRNAs while supervised analysis demonstrated 82 miRNAs (FDR; Q = 0.0. Differential expression of 8 miRNAs: miR-214, miR-149*, miR-143, miR-146b, miR-199a, let7b, miR-1238 and miR-134 were studied. Gene target prediction revealed SMAD4, WISP1, HIPK1, HDAC8 and C-KIT as the post-transcriptional regulators of miR-146b, miR-199a, miR-1238 and miR-134. Five miRNAs (miR-214, miR146b, miR-143, miR-199a and miR-134 were found to be differentially expressed in M3/ D3 UM tumors. In UM patients with liver metastasis, miR-149* and miR-134 expressions were strongly correlated.UM can be stratified using miRNAs from FFPE sections. miRNAs predicting liver metastasis and survival have been identified. Mechanistic linkage of de-regulated miRNA/mRNA expressions provide new insights on their role in UM progression and aggressiveness.

  6. Effects of Helicoverpa armigera (Noctuidae, Lepidoptera) host stages on some developmental parameters of the uniparental endoparasitoid Meteorus pulchricornis (Braconidae, Hymenoptera).

    Science.gov (United States)

    Liu, Ya-Hui; Li, Bao-Ping

    2008-04-01

    A single choice test was performed to examine developmental strategies in the uniparental endoparasitoid Meteorus pulchricornis and its host, the cotton bollworm Helicoverpa armigera. The results support the dome-shaped model in which the fitness functions are 'dome-shaped' relative to size (and age) of host at parasitism. Older and, hence, larger host larvae were simply not better hosts for the developing parasitoids. Although parasitoid size (measured as cocoon weight and adult hind tibia length) was positively correlated with host instars at parasitism, parasitoids developing in larger hosts (L5 and L6) suffered much higher mortality than conspecifics developing in smaller hosts (L2-L4). Furthermore, egg-to-adult development time in M. pulchricornis was significantly longer in older host larvae (L4-L6) than in the younger. Performance of M. pulchricornis, as indicated by fitness-related traits, strongly suggests that the L3 host is the most suitable for survival, growth and development of the parasitoid, followed by both L2 and L4 hosts; whereas, L1, L5 and L6 are the least favourable hosts. The oviposition tendency of M. pulchricornis, represented by parasitism level, was not perfectly consistent with the performance of the offspring; L2-L4 hosts, although with the same parasitism level, had offspring parasitoids with differences in fitness-related performance. Larval development in Helicoverpa armigera was usually suspended, but occasionally advanced, in the final instar.

  7. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.

    Directory of Open Access Journals (Sweden)

    Fabiola Traina

    Full Text Available We hypothesized that analysis of single nucleotide polymorphism arrays (SNP-A and new molecular defects may provide new insight in the pathogenesis of systemic mastocytosis (SM. SNP-A karyotyping was applied to identify recurrent areas of loss of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1, EZH2, IDH1/IDH2 and the CBL gene family. Overall survival (OS was analyzed using the Kaplan-Meier method. We studied a total of 26 patients with SM. In 67% of SM patients, SNP-A karyotyping showed new chromosomal abnormalities including uniparental disomy of 4q and 2p spanning TET2/KIT and DNMT3A. Mutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively. No mutations were observed in EZH2 and IDH1/IDH2. Significant differences in OS were observed for SM mutated patients grouped based on the presence of combined TET2/DNMT3A/ASXL1 mutations independent of KIT (P = 0.04 and sole TET2 mutations (P<0.001. In conclusion, TET2, DNMT3A and ASXL1 mutations are also present in mastocytosis and these mutations may affect prognosis, as demonstrated by worse OS in mutated patients.

  8. Deletions of a differentially methylated CpG island at SNRPN define a putative imprinting control region

    Energy Technology Data Exchange (ETDEWEB)

    Sutcliffe, J.S.,; Nakao, M.; Beaudet, A.L. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are associated with paternal and maternal deficiencies, respectively, of gene expression within human chromosome 15q11-q13, and are caused by deletion, uniparental disomy, or other mutations. Four transcripts designated PAR-5, PAR-7, PAR-1 and PAR-4 were isolated and localized to a region within 300 kb telomeric to the gene encoding small nuclear ribonucleoprotein-associated polypeptide N (SNRPN). Analysis of the transcripts in cultured fibroblasts and lymphoblasts from deletion patients demonstrated that SNRPN, PAR-5 and PAR-1 are expressed exclusively from the paternal chromosome, defining an imprinted domain that spans at least 200 kb. All three imprinted transcripts were absent in cells from three PWS patients (one pair of sibs and one sporadic case) with small deletions that involve a differentially methylated CpG island containing a previously undescribed 5{prime} untranslated exon ({alpha}) of SNRPN. Methylation of the CpG island is specific for the maternal chromosome consistent with paternal expression of the imprinted domain. One deletion, which is benign when maternally transmitted, extends upstream <30 kb from the CpG island, and is associated with altered methylation centromeric to SNRPN, and loss of transcription telomeric to SNRPN, implying the presence of an imprinting control region around the CpG island containing exon {alpha}.

  9. A variety of genetic mechanisms are associated with the Prader-Willi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Woodage, T.; Deng, Z.M.; Prasad, M. [Royal Prince Alfred Hospital, Camperdown (Australia)] [and others

    1994-09-15

    An extensive set of chromosome 15 DNA polymorphisms and densitometric analysis with four markers mapping to the Prader-Willi chromosome region (PWCR) of chromosome 15 have been used to characterize a cohort of 30 subjects with classical Prader-Willi syndrome (PWS). Molecular analysis enabled the classification of the PWS subjects into four groups: (A) 18 subjects (60%) had deletions of paternal 15q11-13 involving a common set of DNA markers. Two subjects had differently sized deletions, one larger and one smaller than the other cases. (B) Eight (27%) had maternal uniparental disomy for chromosome 15. (C) One (3%) had a marker chromosome carrying an extra copy of the PWCR. The marker chromosome was demonstrated to be of paternal origin and the two intact chromosomes were maternally derived. This case represents an apparent exception to the generally held view that PWS is associated with an absence of paternally inherited gene(s) located in the PWCR. (D) The remaining three cases (10%) had none of the above abnormalities. This last subgroup of patients has not previously been well characterized but could represent limited deletions not detectable with the markers used or abnormalities in the imprinting process. These cases represent potentially valuable resources to elucidate more precisely the fundamental disorders responsible for PWS. 39 refs., 2 figs., 3 tabs.

  10. A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.

    Science.gov (United States)

    Han, Ji Yoon; Park, Joonhong; Jang, Woori; Chae, Hyojin; Kim, Myungshin; Kim, Yonggoo

    2016-07-01

    Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. This occurs via one of the three main genetic mechanisms, as follows: Deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. Recent studies have reported an association between imprinting disorders and assisted reproductive technologies (ART). The current study presents a 6-year-old female patient who is a dizygotic twin, in which one was born with de novo microdeletion at 15q11.2-q13.1 following in vitro fertilization. The patient had characteristic facial features including narrow bifrontal diameter, strabismus, downturned mouth, feeding problems and generalized hypotonia during infancy, developmental delay, mental retardation and rapid weight gain. Based upon phenotypic resemblance and the medical records, methylation-specific multiplex ligation-dependent probe amplification and array-based comparative genome hybridization analyses demonstrate type 2 microdeletion between breaking point 2 (BP2) and BP3, which occur from MKRN3 through HERC2 at 15q11.2-q13.1. To the best of our knowledge, the present study is the first to report a PWS case born following ART reported in South Korea. In addition to previous studies, the present study contributes to the consensus regarding genotype-phenotype comparisons in this respect.

  11. Learning-by-Being-Acquired

    DEFF Research Database (Denmark)

    Colombo, Massimo Gaetano; Moreira, Solon; Rabbiosi, Larissa

    2016-01-01

    In horizontal acquisitions, the post-acquisition integration of the R&D function often damages the inventive labor force and results in lower innovative productivity of acquired inventors. In this paper we study post-acquisition integration in terms of R&D team reorganization-i.e., the creation...... of new teams with both inventors of the acquiring and acquired firms-and assess the impact of this integration action in the period that immediately follows the acquisition. Drawing on social identity and self-categorization theories, we argue that R&D team reorganization increases the acquired inventors...

  12. Linking sex differences in corticosterone with individual reproductive behaviour and hatch success in two species of uniparental shorebirds.

    Science.gov (United States)

    Edwards, Darryl B; Chin, Eunice H; Burness, Gary; Gilchrist, H Grant; Schulte-Hostedde, Albrecht I

    2013-09-01

    In birds, corticosterone (CORT) appears to facilitate reproductive activity because baseline and stress-induced CORT levels are elevated in breeding individuals compared with other times of the year. In particular, CORT is lower in the sex providing most of the parental care (i.e., incubation), which could be an important adaptation to tolerate stressors that result in abandoning reproduction. Therefore, one explanation for sex differences in CORT is that lower levels are favoured during the incubation/parental phase of reproduction. Using two species of uniparental shorebird - polyandrous red phalaropes (Phalaropus fulicarius) and polygynous white-rumped sandpipers (Calidris fuscicollis) - we predicted that the incubating sex would have lower baseline and stress-induced CORT, and incubating individuals with lower CORT would more effectively defend nests against a simulated intrusion, would return more quickly afterwards, and would ultimately have higher hatch success. We found that phalaropes followed the predicted pattern: incubating individuals (males) had lower baseline and stress-induced CORT than females but for baseline CORT these differences existed prior to males commencing incubation. Incubating male phalaropes with lower baseline and stress-induced CORT returned to incubate more quickly after a disturbance and there was non-significant tendency for baseline CORT to be lower in successful nests. In sandpipers, we observed no sex differences and no significant relationships between individual CORT levels and nest defence behaviours or hatch success. Our results demonstrate that in phalaropes at least, selection favours lower baseline and stress-induced CORT during the nesting period. These results can explain sex differences in stress-induced levels of CORT, however sex differences in baseline CORT were present prior to incubation. Copyright © 2013 Elsevier Inc. All rights reserved.

  13. Acquired neuropathies.

    Science.gov (United States)

    Lozeron, Pierre; Trocello, Jean-Marc; Kubis, Nathalie

    2013-09-01

    Acquired neuropathies represent most of the neuropathies encountered in clinical practice. Hundreds of causes have been identified even though up to 41% of patients are still classified as idiopathic (Rajabally and Shah in J Neurol 258:1431-1436, 1). Routine evaluation relies on comprehensive medical history taking, clinical examination, nerve conduction studies and laboratory tests. Other investigations such as nerve biopsy or nerve or muscle imaging are performed in specific settings. This review focuses on recent advances in acquired neuropathies.

  14. An ancient Mediterranean melting pot: investigating the uniparental genetic structure and population history of sicily and southern Italy.

    Directory of Open Access Journals (Sweden)

    Stefania Sarno

    Full Text Available Due to their strategic geographic location between three different continents, Sicily and Southern Italy have long represented a major Mediterranean crossroad where different peoples and cultures came together over time. However, its multi-layered history of migration pathways and cultural exchanges, has made the reconstruction of its genetic history and population structure extremely controversial and widely debated. To address this debate, we surveyed the genetic variability of 326 accurately selected individuals from 8 different provinces of Sicily and Southern Italy, through a comprehensive evaluation of both Y-chromosome and mtDNA genomes. The main goal was to investigate the structuring of maternal and paternal genetic pools within Sicily and Southern Italy, and to examine their degrees of interaction with other Mediterranean populations. Our findings show high levels of within-population variability, coupled with the lack of significant genetic sub-structures both within Sicily, as well as between Sicily and Southern Italy. When Sicilian and Southern Italian populations were contextualized within the Euro-Mediterranean genetic space, we observed different historical dynamics for maternal and paternal inheritances. Y-chromosome results highlight a significant genetic differentiation between the North-Western and South-Eastern part of the Mediterranean, the Italian Peninsula occupying an intermediate position therein. In particular, Sicily and Southern Italy reveal a shared paternal genetic background with the Balkan Peninsula and the time estimates of main Y-chromosome lineages signal paternal genetic traces of Neolithic and post-Neolithic migration events. On the contrary, despite showing some correspondence with its paternal counterpart, mtDNA reveals a substantially homogeneous genetic landscape, which may reflect older population events or different demographic dynamics between males and females. Overall, both uniparental genetic

  15. Uniparental genetic heritage of belarusians: encounter of rare middle eastern matrilineages with a central European mitochondrial DNA pool.

    Science.gov (United States)

    Kushniarevich, Alena; Sivitskaya, Larysa; Danilenko, Nina; Novogrodskii, Tadeush; Tsybovsky, Iosif; Kiseleva, Anna; Kotova, Svetlana; Chaubey, Gyaneshwer; Metspalu, Ene; Sahakyan, Hovhannes; Bahmanimehr, Ardeshir; Reidla, Maere; Rootsi, Siiri; Parik, Jüri; Reisberg, Tuuli; Achilli, Alessandro; Hooshiar Kashani, Baharak; Gandini, Francesca; Olivieri, Anna; Behar, Doron M; Torroni, Antonio; Davydenko, Oleg; Villems, Richard

    2013-01-01

    Ethnic Belarusians make up more than 80% of the nine and half million people inhabiting the Republic of Belarus. Belarusians together with Ukrainians and Russians represent the East Slavic linguistic group, largest both in numbers and territory, inhabiting East Europe alongside Baltic-, Finno-Permic- and Turkic-speaking people. Till date, only a limited number of low resolution genetic studies have been performed on this population. Therefore, with the phylogeographic analysis of 565 Y-chromosomes and 267 mitochondrial DNAs from six well covered geographic sub-regions of Belarus we strove to complement the existing genetic profile of eastern Europeans. Our results reveal that around 80% of the paternal Belarusian gene pool is composed of R1a, I2a and N1c Y-chromosome haplogroups - a profile which is very similar to the two other eastern European populations - Ukrainians and Russians. The maternal Belarusian gene pool encompasses a full range of West Eurasian haplogroups and agrees well with the genetic structure of central-east European populations. Our data attest that latitudinal gradients characterize the variation of the uniparentally transmitted gene pools of modern Belarusians. In particular, the Y-chromosome reflects movements of people in central-east Europe, starting probably as early as the beginning of the Holocene. Furthermore, the matrilineal legacy of Belarusians retains two rare mitochondrial DNA haplogroups, N1a3 and N3, whose phylogeographies were explored in detail after de novo sequencing of 20 and 13 complete mitogenomes, respectively, from all over Eurasia. Our phylogeographic analyses reveal that two mitochondrial DNA lineages, N3 and N1a3, both of Middle Eastern origin, might mark distinct events of matrilineal gene flow to Europe: during the mid-Holocene period and around the Pleistocene-Holocene transition, respectively.

  16. Deciphering the link between doubly uniparental inheritance of mtDNA and sex determination in bivalves: Clues from comparative transcriptomics

    Science.gov (United States)

    Capt, Charlotte; Renaut, Sébastien; Ghiselli, Fabrizio; Milani, Liliana; Johnson, Nathan A.; Sietman, Bernard E.; Stewart, Donald; Breton, Sophie

    2018-01-01

    Bivalves exhibit an astonishing diversity of sexual systems and sex-determining mechanisms. They can be gonochoric, hermaphroditic or androgenetic, with both genetic and environmental factors known to determine or influence sex. One unique sex-determining system involving the mitochondrial genome has also been hypothesized to exist in bivalves with doubly uniparental inheritance (DUI) of mtDNA. However, the link between DUI and sex determination remains obscure. In this study, we performed a comparative gonad transcriptomics analysis for two DUI-possessing freshwater mussel species to better understand the mechanisms underlying sex determination and DUI in these bivalves. We used a BLAST reciprocal analysis to identify orthologs between Venustaconcha ellipsiformis and Utterbackia peninsularis and compared our results with previously published sex-specific bivalve transcriptomes to identify conserved sex-determining genes. We also compared our data with other DUI species to identify candidate genes possibly involved in the regulation of DUI. A total of ∼12,000 orthologous relationships were found, with 2,583 genes differentially expressed in both species. Among these genes, key sex-determining factors previously reported in vertebrates and in bivalves (e.g., Sry, Dmrt1, Foxl2) were identified, suggesting that some steps of the sex-determination pathway may be deeply conserved in metazoans. Our results also support the hypothesis that a modified ubiquitination mechanism could be responsible for the retention of the paternal mtDNA in male bivalves, and revealed that DNA methylation could also be involved in the regulation of DUI. Globally, our results suggest that sets of genes associated with sex determination and DUI are similar in distantly-related DUI species.

  17. Community-acquired bacterial meningitis

    NARCIS (Netherlands)

    van de Beek, Diederik; Brouwer, Matthijs; Hasbun, Rodrigo; Koedel, Uwe; Whitney, Cynthia G.; Wijdicks, Eelco

    2016-01-01

    Meningitis is an inflammation of the meninges and subarachnoid space that can also involve the brain cortex and parenchyma. It can be acquired spontaneously in the community - community-acquired bacterial meningitis - or in the hospital as a complication of invasive procedures or head trauma

  18. Acquired Methemoglobinaemia

    Directory of Open Access Journals (Sweden)

    Adil Al-Lawati

    2012-05-01

    Full Text Available Acquired methemoglobinaemia is a relatively rare condition and, therefore infrequently encountered in acute medical practice. Suspicion of the condition may be triggered when the measured PaO2 is ‘out of keeping’ with the oxygen saturations that are discovered with pulse oximetry. We describe two separate cases of acquired methemoglobinaemia secondary to the recreational use of alkyl nitrites (’poppers’. The patients presented at separate times to two different teaching hospitals in London, UK. The similarity of these cases has led the authors to conclude that a raised awareness of this potentially fatal condition, and its association with a widely-available recreational drug, is necessary to ensure a correct and timely diagnosis.

  19. Laboratory-acquired brucellosis

    DEFF Research Database (Denmark)

    Fabiansen, C.; Knudsen, J.D.; Lebech, A.M.

    2008-01-01

    Brucellosis is a rare disease in Denmark. We describe one case of laboratory-acquired brucellosis from an index patient to a laboratory technician following exposure to an infected blood culture in a clinical microbiology laboratory Udgivelsesdato: 2008/6/9......Brucellosis is a rare disease in Denmark. We describe one case of laboratory-acquired brucellosis from an index patient to a laboratory technician following exposure to an infected blood culture in a clinical microbiology laboratory Udgivelsesdato: 2008/6/9...

  20. Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells

    Science.gov (United States)

    Bershteyn, Marina; Hayashi, Yohei; Desachy, Guillaume; Hsiao, Edward C.; Sami, Salma; Tsang, Kathryn M.; Weiss, Lauren A.; Kriegstein, Arnold R.; Yamanaka, Shinya; Wynshaw-Boris, Anthony

    2014-03-01

    Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions. Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. During cell division, ring chromosomes can exhibit unstable behaviour leading to continuous production of aneuploid progeny with low viability and high cellular death rate. The overall consequences of this chromosomal instability have been largely unexplored in experimental model systems. Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. The karyotypically normal iPSCs with isodisomy for the corrected chromosome outgrew co-existing aneuploid populations, enabling rapid and efficient isolation of patient-derived iPSCs devoid of the original chromosomal aberration. Our results suggest a fundamentally different function for cellular reprogramming as a means of `chromosome therapy' to reverse combined loss-of-function across many genes in cells with large-scale aberrations involving ring structures. In addition, our work provides an experimentally tractable human cellular system for studying mechanisms of chromosomal number control, which is of critical relevance to human development and disease.

  1. Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.

    Science.gov (United States)

    Schrander-Stumpel, Constance T R M; Sinnema, Margje; van den Hout, Lieke; Maaskant, Marian A; van Schrojenstein Lantman-de Valk, Henny M J; Wagemans, Annemieke; Schrander, Jaap J P; Curfs, Leopold M G

    2007-08-15

    In current healthcare, transitional healthcare is a very important and timely issue. Thanks to the major advances made in medical care and technology, many children with childhood onset diseases and/or genetic syndromes survive to adulthood. These children are at risk of not being provided with adequate healthcare as they reach adulthood. Healthcare transition is an essential part of healthcare provision, referred to as the shift from one type of healthcare to another. In Maastricht, we developed a transition/out clinic led by a medical doctor specialized in persons with intellectual disability (ID), together with a clinical geneticist. We aim to coordinate healthcare issues based on guidelines if available. Also questions concerning living, daily activities, relations, sexuality, and sterilization can be discussed. The aging process of persons with ID has been a topic of interest in recent years. Little is known about the aging process of people with specific syndromes, except for persons with Down syndrome. We present some data of a recent questionnaire study in persons with Prader-Willi syndrome. In only 50% in persons with a clinical diagnosis genetic test results could be reported. The majority of persons were obese. Diabetes mellitus, hypertension, skin problems, sleep apnea, and hormonal problems like osteoporosis and hypothyroidism were common. Psychiatric problems were frequent, especially in the persons with uniparental disomy. Osteoporosis and sleep apnoea seem to be underestimated. Further longitudinal research is necessary for a better understanding of the aging process in PWS. (c) 2007 Wiley-Liss, Inc.

  2. The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

    Science.gov (United States)

    Sienko, Magdalena; Petriczko, Elżbieta; Zajaczek, Stanislaw; Zygmunt-Gorska, Agata; Starzyk, Jerzy; Korpysz, Alicja; Petriczko, Jan; Walczak, Alicja; Walczak, Mieczysław

    2017-12-01

    Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.

  3. Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

    Science.gov (United States)

    Siemensma, Elbrich P C; Tummers-de Lind van Wijngaarden, Roderick F A; Festen, Dederieke A M; Troeman, Zyrhea C E; van Alfen-van der Velden, A A E M Janielle; Otten, Barto J; Rotteveel, Joost; Odink, Roelof J H; Bindels-de Heus, G C B Karen; van Leeuwen, Mariette; Haring, Danny A J P; Oostdijk, Wilma; Bocca, Gianni; Mieke Houdijk, E C A; van Trotsenburg, A S Paul; Hoorweg-Nijman, J J Gera; van Wieringen, Hester; Vreuls, René C F M; Jira, Petr E; Schroor, Eelco J; van Pinxteren-Nagler, Evelyn; Willem Pilon, Jan; Lunshof, L Bert; Hokken-Koelega, Anita C S

    2012-07-01

    Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment. Cognitive functioning was measured biennially by short forms of the WPPSI-R or WISC-R, depending on age. Total IQ (TIQ) score was estimated based on two subtest scores. During the randomized controlled trial, mean sd scores of all subtests and mean TIQ score remained similar compared to baseline in GH-treated children with PWS, whereas in untreated controls mean subtest sd scores and mean TIQ score decreased and became lower compared to baseline. This decline was significant for the Similarities (P = 0.04) and Vocabulary (P = 0.03) subtests. After 4 yr of GH treatment, mean sd scores on the Similarities and Block design subtests were significantly higher than at baseline (P = 0.01 and P = 0.03, respectively), and scores on Vocabulary and TIQ remained similar compared to baseline. At baseline, children with a maternal uniparental disomy had a significantly lower score on the Block design subtest (P = 0.01) but a larger increment on this subtest during 4 yr of GH treatment than children with a deletion. Lower baseline scores correlated significantly with higher increases in Similarities (P = 0.04) and Block design (P deficit had more benefit from GH treatment.

  4. PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

    Directory of Open Access Journals (Sweden)

    Angelika J. Dawson

    2015-01-01

    Full Text Available The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS and Angelman (AS syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. In addition, this region encompasses imprinted genes that cause PWS or AS, depending on the parent-of-origin. This imprinting allows for diagnosis of PWS or AS based on methylation status using methylation sensitive (MS multiplex ligation dependent probe amplification (MLPA. Maternally derived microduplications at 15q11.2-q13 have been associated with autism and other neuropsychiatric disorders. Multiple methods have been used to determine the parent-of-origin for 15q11.2-q13 microdeletions and microduplications. In the present study, a four-year-old nondysmorphic female patient with developmental delay was found to have a de novo ~5 Mb duplication within 15q11.2 by oligonucleotide genomic array. In order to determine the significance of this microduplication to the clinical phenotype, the parent-of-origin needed to be identified. The PWS/AS MS-MLPA assay is generally used to distinguish between deletion and uniparental disomy (UPD of 15q11.2-q13, resulting in either PWS or AS. However, our study shows that PWS/AS MS-MLPA can also efficiently distinguish the parental origin of duplications of 15q11.2-q13.

  5. The evolution of non-reciprocal nuclear exchange in mushrooms as a consequence of genomic conflict

    DEFF Research Database (Denmark)

    Aanen, Duur Kornelis; Kuyper, T.W.; Debets, A.J.M.

    2004-01-01

    nucleo-mitochondrial conflict, mitochondrial inheritance, doubly uniparental inheritance, basidiomycetes, cytoplasmic male sterility......nucleo-mitochondrial conflict, mitochondrial inheritance, doubly uniparental inheritance, basidiomycetes, cytoplasmic male sterility...

  6. The extremely divergent maternally- and paternally-transmitted mitochondrial genomes are co-expressed in somatic tissues of two freshwater mussel species with doubly uniparental inheritance of mtDNA

    Science.gov (United States)

    Breton, Sophie; Bouvet, Karim; Auclair, Gabrielle; Ghazal, Stephanie; Sietman, Bernard E.; Johnson, Nathan A.; Bettinazzi, Stefano; Dtewart, Donald T.; Guerra, Davide

    2017-01-01

    Freshwater mussel species with doubly uniparental inheritance (DUI) of mtDNA are unique because they are naturally heteroplasmic for two extremely divergent mtDNAs with ~50% amino acid differences for protein-coding genes. The paternally-transmitted mtDNA (or M mtDNA) clearly functions in sperm in these species, but it is still unknown whether it is transcribed when present in male or female soma. In the present study, we used PCR and RT-PCR to detect the presence and expression of the M mtDNA in male and female somatic and gonadal tissues of the freshwater mussel species Venustaconcha ellipsiformis and Utterbackia peninsularis (Unionidae). This is the first study demonstrating that the M mtDNA is transcribed not only in male gonads, but also in male and female soma in freshwater mussels with DUI. Because of the potentially deleterious nature of heteroplasmy, we suggest the existence of different mechanisms in DUI species to deal with this possibly harmful situation, such as silencing mechanisms for the M mtDNA at the transcriptional, post-transcriptional and/or post-translational levels. These hypotheses will necessitate additional studies in distantly-related DUI species that could possess different mechanisms of action to deal with heteroplasmy.

  7. Community-acquired pneumonia.

    Science.gov (United States)

    Falguera, M; Ramírez, M F

    2015-11-01

    This article not only reviews the essential aspects of community-acquired pneumonia for daily clinical practice, but also highlights the controversial issues and provides the newest available information. Community-acquired pneumonia is considered in a broad sense, without excluding certain variants that, in recent years, a number of authors have managed to delineate, such as healthcare-associated pneumonia. The latter form is nothing more than the same disease that affects more frail patients, with a greater number of risk factors, both sharing an overall common approach. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  8. 48 CFR 1845.502-70 - Contractor-acquired property.

    Science.gov (United States)

    2010-10-01

    ... 48 Federal Acquisition Regulations System 6 2010-10-01 2010-10-01 true Contractor-acquired... Possession of Contractors 1845.502-70 Contractor-acquired property. All contractor-acquired property must be... contractor-acquired. (2) Submission of DD Form 1419, DOD Industrial Plant Requisition, or equivalent format...

  9. Acquiring taste in home economics?

    DEFF Research Database (Denmark)

    Stenbak Larsen, Christian

    Objective: To explore how home economics was taught in Denmark before the recent Danish school reform, which also revised the objectives and content of home economics, naming it Food Knowledge (Madkundskab) Methods: Participant observation was done in home economic lessons in two case schools...... appreciated by the group of boys, and others again learned to stick with their idiosyncrasies when pressured by the teacher. Conclusions: Children were acquiring taste in the home economic lessons, but not only the kind of tastes that the teacher had planned for. This leads to reflections on the very complex...... process of taste acquiring and to a call for further research into taste acquiring in complex real life contexts as home economics lessons....

  10. Acquired bleeding disorders

    African Journals Online (AJOL)

    B one marrow aplasia ... Laboratory approach to a suspected acquired bleeding disorder. (LER = leuko- .... lymphocytic leukaemia, and lymphoma). ... cells), a bone marrow aspirate and trephine biopsy (BMAT) is not ..... transplantation.

  11. Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome.

    Science.gov (United States)

    Omokawa, Mayu; Ayabe, Tadayuki; Nagai, Toshiro; Imanishi, Aya; Omokawa, Ayumi; Nishino, Seiji; Sagawa, Yohei; Shimizu, Tetsuo; Kanbayashi, Takashi

    2016-05-01

    Prader-Willi syndrome is a congenital neurodevelopmental disorder resulting from deletion of the paternal copies of genes within the chromosome region 15q11-q13. Patients with Prader-Willi syndrome often exhibit excessive daytime sleepiness, excessive appetite, and obesity. As is the case in narcolepsy, orexin (hypocretin) may be responsible for these symptoms. However, reports showing cerebrospinal fluid orexin levels in Prader-Willi syndrome patients have been limited. The aim of this study was to examine the relationship between the characteristic symptoms of Prader-Willi syndrome and cerebrospinal fluid orexin levels. We clinically identified 14 Prader-Willi syndrome patients and examined their cerebrospinal fluid orexin levels. A total of 12 patients with a 15q11-q13 deletion and two patients with maternal uniparental disomy of chromosome 15 were identified. A total of 37 narcoleptic patients and 14 idiopathic hypersomnia patients were recruited for comparison. Cerebrospinal fluid orexin levels (median [25-75 percentiles]) in the 14 Prader-Willi syndrome patients were intermediate (192 [161-234.5] pg/ml), higher than in the narcoleptic patients, but lower than in the idiopathic hypersomnia patients. Body mass index of the Prader-Willi syndrome patients was higher than in the narcoleptic and idiopathic hypersomnia patients. There was also a negative correlation between Epworth sleepiness scale scores and orexin levels in Prader-Willi syndrome patients. Decreased cerebrospinal fluid orexin levels in Prader-Willi syndrome may play an important role in severity of obesity and excessive daytime sleepiness. © 2016 Wiley Periodicals, Inc.

  12. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

    Science.gov (United States)

    Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

    2016-05-01

    Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

    Science.gov (United States)

    Burnside, Rachel D; Pasion, Romela; Mikhail, Fady M; Carroll, Andrew J; Robin, Nathaniel H; Youngs, Erin L; Gadi, Inder K; Keitges, Elizabeth; Jaswaney, Vikram L; Papenhausen, Peter R; Potluri, Venkateswara R; Risheg, Hiba; Rush, Brooke; Smith, Janice L; Schwartz, Stuart; Tepperberg, James H; Butler, Merlin G

    2011-10-01

    The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.

  14. Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder

    Directory of Open Access Journals (Sweden)

    Saenger Paul

    2012-05-01

    Full Text Available Abstract The term small for gestational age (SGA refers to infants whose birth weights and/or lengths are at least two standard deviation (SD units less than the mean for gestational age. This condition affects approximately 3%–10% of newborns. Causes for SGA birth include environmental factors, placental factors such as abnormal uteroplacental blood flow, and inherited genetic mutations. In the past two decades, an enhanced understanding of genetics has identified several potential causes for SGA. These include mutations that affect the growth hormone (GH/insulin-like growth factor (IGF-1 axis, including mutations in the IGF-1 gene and acid-labile subunit (ALS deficiency. In addition, select polymorphisms observed in patients with SGA include those involved in genes associated with obesity, type 2 diabetes, hypertension, ischemic heart disease and deletion of exon 3 growth hormone receptor (d3-GHR polymorphism. Uniparental disomy (UPD and imprinting effects may also underlie some of the phenotypes observed in SGA individuals. The variety of genetic mutations associated with SGA births helps explain the diversity of phenotype characteristics, such as impaired motor or mental development, present in individuals with this disorder. Predicting the effectiveness of recombinant human GH (hGH therapy for each type of mutation remains challenging. Factors affecting response to hGH therapy include the dose and method of hGH administration as well as the age of initiation of hGH therapy. This article reviews the results of these studies and summarizes the success of hGH therapy in treating this difficult and genetically heterogenous disorder.

  15. A somatic origin of homologous Robertsonian translocations and isochromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, W.P.; Bernasconi, F.; Schinzel, A.A. (Univ. of Zurich (Switzerland)); Basaran, S.; Yueksel-Apak, M. (Univ. of Istanbul (Turkey)); Neri, G. (Universita Cattolica, Rome (Italy)); Serville, F. (Hopital d' Enfants Pellegrin, Bordeaux (France)); Balicek, P.; Haluza, R. (Univ. Hospital of Hradeck Kralove, Hradec Kralove (Czech Republic)); Farah, L.M.S. (Escuola Paulista de Medicina, Sao Paulo (Brazil)) (and others)

    1994-02-01

    One t(14q 14q), three t(15q 15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated with polymorphic markers to establish the origin of the translocated chromosomes. Four cases had results indicative of an isochromosome: one t(14q14q) case with mild mental retardation and maternal uniparental disomy (UPD) for chromosome 14, one t(15q15q) case with the Prader-Willi syndrome and UPD(15), a phenotypically normal carrier of t(22q22q) with maternal UPD(22), and a phenotypically normal t(21q21q) case of paternal UPD(21). All UPD cases showed complete homozygosity throughout the involved chromosome, which is supportive of a postmeiotic origin. In the remaining four cases, maternal and paternal inheritance of the involved chromosome was found, which unambiguously implies a somatic origin. One t(15q15q) female had a child with a ring chromosome 15, which was also of probable postmeiotic origin as recombination between grandparental haplotypes had occurred prior to ring formation. UPD might be expected to result from de novo Robertsonian translocations of meiotic origin; however, all de novo homologous translocation cases, so far reported, with UPD of chromosomes 14, 15, 21, or 22 have been isochromosomes. These data provide the first direct evidence that nonmosaic Robertsonian translocations, as well as isochromosomes, are commonly the result of a mitotic exchange. 75 refs., 1 fig., 4 tabs.

  16. Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients

    Directory of Open Access Journals (Sweden)

    Leila C.A. Cardoso

    2012-01-01

    Full Text Available The most frequent epigenetic alterations in Wilms tumor (WT occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19 that contains the IGF2 gene and an imprinted maternally expressed transcript (H19 and centromeric domain 2 (KvDMR that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19 was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples: 16/34 with isolated HM DMRH19 and 12/34 with concomitant HM DMRH19 and KvDMR hypomethylation, indicating paternal uniparental disomy. With the exception of one blood sample, the MS-MLPA and pyrosequencing findings were concordant. Diffuse or focal anaplasia was present in five tumor samples and was associated with isolated somatic HM DMRH19 in four of them. Constitutional 11p15 methylation abnormalities were present in 5% of the samples and somatic abnormalities in the majority of tumors. Combined analysis of DMRH19/KvDMR by pyrosequencing and MS-MLPA is beneficial for characterizing epigenetic anomalies in WT, and MS-MLPA is useful and reliable for estimation of DNA methylation in a clinical setting.

  17. QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.

    Science.gov (United States)

    Ihara, Hiroshi; Ogata, Hiroyuki; Sayama, Masayuki; Kato, Aya; Gito, Masao; Murakami, Nobuyuki; Kido, Yasuhiro; Nagai, Toshiro

    2014-09-01

    This study aimed to measure quality of life (QOL) of the primary family caregivers for patients with Prader-Willi syndrome (PWS). Comparisons were made between caregivers' QOL in regard to their dependents' genotype and age group. The participants with PWS consisted of 22 children (aged from 6 to 12 years) and 23 adolescents (aged from 13 to 19 years), including 6 children and 7 adolescents with maternal uniparental disomy (mUPD) and 16 children and 16 adolescents with deletion (DEL). The QOL of the primary family caregiver for each patient was assessed using the Japanese version of the WHOQOL-BREF. To examine the effect that age (children vs. adolescents) and genotype (DEL vs. mUPD) have on the QOL of caregivers, a two-way ANOVA was conducted, followed by the Bonferroni procedure to test the simple main effects. The two age groups and the two genotypes of PWS were used as independent variables and the total QOL of caregivers as a dependent variable. The two-way ANOVA (F(1, 41) = 6.98, P caregivers of DEL adolescents showed little difference from that with DEL children, but the QOL of caregivers for mUPD adolescents was shown to be lower than that with mUPD children along with that of caregivers with DEL adolescents. There is hence a growing tendency for the deterioration in the QOL of caregivers to manifest itself later in the patients' adolescence, found mainly with mUPD patients. © 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

  18. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

    Science.gov (United States)

    Turner, Samantha J; Hildebrand, Michael S; Block, Susan; Damiano, John; Fahey, Michael; Reilly, Sheena; Bahlo, Melanie; Scheffer, Ingrid E; Morgan, Angela T

    2013-09-01

    Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was FOXP2, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with FOXP2 mutations have been reported. These mutations include sequencing alterations, translocations, uniparental disomy, and genomic copy number variants. We studied eight probands with speech disorder and their families. Family members were phenotyped using a comprehensive assessment of speech, oral motor function, language, literacy skills, and cognition. Coding regions of FOXP2 were screened to identify novel variants. Segregation of the variant was determined in the probands' families. Variants were identified in two probands. One child with severe motor speech disorder had a small de novo intragenic FOXP2 deletion. His phenotype included features of childhood apraxia of speech and dysarthria, oral motor dyspraxia, receptive and expressive language disorder, and literacy difficulties. The other variant was found in a family in two of three family members with stuttering, and also in the mother with oral motor impairment. This variant was considered a benign polymorphism as it was predicted to be non-pathogenic with in silico tools and found in database controls. This is the first report of a small intragenic deletion of FOXP2 that is likely to be the cause of severe motor speech disorder associated with language and literacy problems. Copyright © 2013 Wiley Periodicals, Inc.

  19. Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma

    International Nuclear Information System (INIS)

    Rumbajan, Janette Mareska; Aoki, Shigehisa; Kohashi, Kenichi; Oda, Yoshinao; Hata, Kenichiro; Saji, Tsutomu; Taguchi, Tomoaki; Tajiri, Tatsuro; Soejima, Hidenobu; Joh, Keiichiro; Maeda, Toshiyuki; Souzaki, Ryota; Mitsui, Kazumasa; Higashimoto, Ken; Nakabayashi, Kazuhiko; Yatsuki, Hitomi; Nishioka, Kenichi; Harada, Ryoko

    2013-01-01

    Aberrant methylation at imprinted differentially methylated regions (DMRs) in human 11p15.5 has been reported in many tumors including hepatoblastoma. However, the methylation status of imprinted DMRs in imprinted loci scattered through the human genome has not been analyzed yet in any tumors. The methylation statuses of 33 imprinted DMRs were analyzed in 12 hepatoblastomas and adjacent normal liver tissue by MALDI-TOF MS and pyrosequencing. Uniparental disomy (UPD) and copy number abnormalities were investigated with DNA polymorphisms. Among 33 DMRs analyzed, 18 showed aberrant methylation in at least 1 tumor. There was large deviation in the incidence of aberrant methylation among the DMRs. KvDMR1 and IGF2-DMR0 were the most frequently hypomethylated DMRs. INPP5Fv2-DMR and RB1-DMR were hypermethylated with high frequencies. Hypomethylation was observed at certain DMRs not only in tumors but also in a small number of adjacent histologically normal liver tissue, whereas hypermethylation was observed only in tumor samples. The methylation levels of long interspersed nuclear element-1 (LINE-1) did not show large differences between tumor tissue and normal liver controls. Chromosomal abnormalities were also found in some tumors. 11p15.5 and 20q13.3 loci showed the frequent occurrence of both genetic and epigenetic alterations. Our analyses revealed tumor-specific aberrant hypermethylation at some imprinted DMRs in 12 hepatoblastomas with additional suggestion for the possibility of hypomethylation prior to tumor development. Some loci showed both genetic and epigenetic alterations with high frequencies. These findings will aid in understanding the development of hepatoblastoma

  20. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Science.gov (United States)

    Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S; Kussmann, Jennifer L; Chawla, Jasneek; Payton, Diane J; Phillips, Gael E; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A; Langston, Claire; Lupski, James R; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł

    2016-05-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV.

  1. Somatically acquired structural genetic differences

    DEFF Research Database (Denmark)

    Magaard Koldby, Kristina; Nygaard, Marianne; Christensen, Kaare

    2016-01-01

    Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested t...... with age.European Journal of Human Genetics advance online publication, 20 April 2016; doi:10.1038/ejhg.2016.34....

  2. Acquired ventricular septal defect due to infective endocarditis

    Directory of Open Access Journals (Sweden)

    Randi E Durden

    2018-01-01

    Full Text Available Acquired intracardiac left-to-right shunts are rare occurrences. Chest trauma and myocardial infection are well-known causes of acquired ventricular septal defect (VSD. There have been several case reports describing left ventricle to right atrium shunt after infective endocarditis (IE. We present here a patient found to have an acquired VSD secondary to IE of the aortic and tricuspid valves in the setting of a known bicuspid aortic valve. This is the first case reported of acquired VSD in a pediatric patient in the setting of IE along with literature review of acquired left-to-right shunts.

  3. Acquired Inventors’ Productivity after Horizontal Acquisition

    DEFF Research Database (Denmark)

    Colombo, Massimo G.; Moreira, Solon; Rabbiosi, Larissa

    Effective integration of the R&D functions of the acquired and acquiring firms is essential for knowledge recombination after acquisition. However, prior research suggests that the post-acquisition integration process often damages the inventive labor force. We argue that an examination of the mu...

  4. Acquired intrathoracic kidney in thoracic kyphosis

    International Nuclear Information System (INIS)

    Murayama, Sadayuki; Kawashima, Akira; Ohuchida, Toshiyuki; Russell, W.J.

    1986-12-01

    Two cases of acquired intrathoracic kidney associated with thoracic kyphosis are reported, with emphasis on the radiographic manifestations. A search of the scientific literature disclosed that the acquired type of this abnormality is rare. The importance of recognizing this entity from a differential diagnostic standpoint is underscored. (author)

  5. Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

    Science.gov (United States)

    Helm, Benjamin M; Willer, Jason R; Sadeghpour, Azita; Golzio, Christelle; Crouch, Eric; Vergano, Samantha Schrier; Katsanis, Nicholas; Davis, Erica E

    2017-07-19

    combined with research-based genetic and functional studies, we have characterized a recurrent IFT140 mutation in the proband; together, these data are consistent with MZSDS. Additionally, we report a rare instance of a uniparental isodisomy unmasking a deleterious mutation to cause a ciliary disorder.

  6. And the Winner is – Acquired

    DEFF Research Database (Denmark)

    Henkel, Joachim; Rønde, Thomas; Wagner, Marcus

    value in case of success—that is, a more radical innovation. In the second stage, successful entrants bid to be acquired by the incumbent. We assume that entrants cannot survive on their own, so being acquired amounts to a ‘prize’ in a contest. We identify an equilibrium in which the incumbent chooses...

  7. 7 CFR 1779.90 - Disposition of acquired property.

    Science.gov (United States)

    2010-01-01

    ... Disposition of acquired property. (a) General. When the lender acquires title to the collateral and the final... 7 Agriculture 12 2010-01-01 2010-01-01 false Disposition of acquired property. 1779.90 Section... develop a plan to fully protect the collateral, and the lender must dispose of the collateral without...

  8. Mortality predictors in community-acquired pneumonia | Tanimowo ...

    African Journals Online (AJOL)

    acquired pneumonia to themedicalwards of Ladoke Akintola University ofTeaching Hospital between Jan. 2003 andDec. 2005. The case notes of 65 patients admitted for community-acquired pneumoniawere studiedwith respect to their admission ...

  9. Preschoolers Acquire General Knowledge by Sharing in Pretense

    Science.gov (United States)

    Sutherland, Shelbie L.; Friedman, Ori

    2012-01-01

    Children acquire general knowledge about many kinds of things, but there are few known means by which this knowledge is acquired. In this article, it is proposed that children acquire generic knowledge by sharing in pretend play. In Experiment 1, twenty-two 3- to 4-year-olds watched pretense in which a puppet represented a "nerp" (an unfamiliar…

  10. Undiagnosed diabetes mellitus in community-acquired pneumonia

    DEFF Research Database (Denmark)

    Jensen, Andreas Vestergaard; Faurholt-Jepsen, Daniel; Egelund, Gertrud Baunbæk

    2017-01-01

    Background: Diabetes mellitus is an important risk factor for community-acquired pneumonia, whereas the prevalence of undiagnosed diabetes mellitus and prediabetes in patients with community-acquired pneumonia is largely unknown. We aimed to determine the prevalence of prediabetes, undiagnosed......-acquired pneumonia included in the German Community-Acquired Pneumonia Competence Network (CAPNETZ) study between 2007 and 2014. The prevalence of undiagnosed diabetes mellitus and prediabetes was estimated based on hemoglobin A1c measurements. Logistic regression was used to assess risk factors for undiagnosed...... diabetes mellitus. Results: Fifteen percent of patients had known diabetes mellitus. Among patients without known diabetes mellitus, 5.0% had undiagnosed diabetes mellitus and 37.5% had prediabetes. Male sex (odds ratio [OR], 2.45 [95% confidence interval {CI}, 1.35-4.45]), body mass index ≥25 kg/m2 (OR, 2...

  11. Corpus callosum demyelination associated with acquired stuttering.

    Science.gov (United States)

    Decker, Barbara McElwee; Guitar, Barry; Solomon, Andrew

    2018-04-21

    Compared with developmental stuttering, adult onset acquired stuttering is rare. However, several case reports describe acquired stuttering and an association with callosal pathology. Interestingly, these cases share a neuroanatomical localisation also demonstrated in developmental stuttering. We present a case of adult onset acquired stuttering associated with inflammatory demyelination within the corpus callosum. This patient's disfluency improved after the initiation of immunomodulatory therapy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Aetiological considerations of acquired aplastic anaemia

    International Nuclear Information System (INIS)

    Malik, S.; Sarwar, I.; Mehmood, T.; Naz, F.

    2009-01-01

    Acquired aplastic anaemia is one of the important causes of pancytopenia. This study was conducted to observe the mode of presentation of acquired aplastic anaemia and to find out its possible etiological factors. Methods: It is a hospital based descriptive study of 100 patients of acquired aplastic anaemia. Results: Out of 100 patients 60 were male and 40 female. Majority (44%) of the patients were between 12 - 20 years of age. Patient presented with variable symptoms majority (40%) with fever. Most of the patients had haemoglobin levels between 4 - 6 gm/dl. (53%). Seventy percent of the cases had no obvious cause, while in 30% some known causative factors were found. Chloramphenicol was found to be the most common causative drug. Mortality was 35%. Thirty patients were partially treated and 15 were lost to follow up. Twenty patients showed improvement with treatment. Conclusions: Acquired aplastic anaemia is common among males and more prevalent in younger age group. It is idiopathic in 70% cases while 30% had some cause. It has very high mortality. Doctors need to keep in mind this fatal condition in patients presenting with anaemia and should properly investigate before prescribing antibiotics and haematinics. (author)

  13. Female-only care of Swainson's Spurfowl Pternistis swainsonii

    African Journals Online (AJOL)

    Uniparental care often means that males do not contribute to the wellbeing of their offspring. For this reason, little attention has been given to avian species where the absent male contributes indirectly to the wellbeing of his chicks. This paper expands our understanding of parental care by analysing the uniparental system ...

  14. Myelofibrosis and acquired hemophilia A: a case report.

    Science.gov (United States)

    Wrobel, Marie; Comio, Emilie; Gay, Valerie; Baroudi, Noureddine; Meyer, Pascal; Chuniaud-Louche, Christine; Hacini, Maya; Pica, Gian Matteo

    2016-05-07

    Myelofibrosis and acquired hemophilia A is a rare association. To the best of our knowledge only one case of myelofibrosis and acquired hemophilia A has been previously described. A 66-year-old Caucasian man diagnosed with myelofibrosis evolving in acute myeloid leukemia was referred to us for postoperative bleeding. Hemostatic studies showed prolonged activated partial thromboplastin time, decreased factor VIII coagulation, and a high factor VIII inhibitor titer; these findings led to a diagnosis of acquired hemophilia A for which he was treated with methylprednisolone and recombinant activated factor VII on admission. Due to a lack of response he was subsequently treated with rituximab combined with activated prothrombin complex concentrates. Furthermore, he received azacytidine to treat the underlying hematological malignancies. Immunosuppressive rituximab therapy resolved acquired hemophilia A with marked efficacy. Rapid and accurate diagnosis, effective hemostatic therapy, and timely treatment for underlying disease are important in the management of acquired hemophilia A secondary to hematological malignancy.

  15. 14 CFR 1274.402 - Contractor acquired property.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Contractor acquired property. 1274.402 Section 1274.402 Aeronautics and Space NATIONAL AERONAUTICS AND SPACE ADMINISTRATION COOPERATIVE AGREEMENTS WITH COMMERCIAL FIRMS Property § 1274.402 Contractor acquired property. As provided in § 1274.923...

  16. Isolated acquired factor VII deficiency: review of the literature.

    Science.gov (United States)

    Mulliez, Sylvie M N; Devreese, Katrien M J

    2016-04-01

    Isolated acquired factor VII (FVII) deficiency is a rare haemorrhagic disorder. We report what is currently known about the pathogenesis, clinical features, diagnosis, treatment and prognosis of acquired FVII deficiency. We performed a literature search and included all articles published between 1980 and August 2015. Acquired FVII deficiency has been reported in 42 patients. There are well-established clinical diseases associated with acquired FVII deficiency, most notably infections, malignancy and haematological stem cell transplantation. The exact pathogenesis of the diseases is still unknown, but different pathophysiological hypotheses have been suggested. The clinical manifestation of acquired FVII deficiency varies greatly in severity; asymptomatic course as well as severe life-threatening bleeding diathesis and fatal bleedings have been described.

  17. How are Concepts of Infinity Acquired?

    Directory of Open Access Journals (Sweden)

    Trzęsicki Kazimierz

    2015-03-01

    Full Text Available Concepts of infinity have been subjects of dispute since antiquity. The main problems of this paper are: is the mind able to acquire a concept of infinity? and: how are concepts of infinity acquired? The aim of this paper is neither to say what the meanings of the word “infinity” are nor what infinity is and whether it exists. However, those questions will be mentioned, but only in necessary extent.

  18. Acquired hypofibrinogenemia: current perspectives

    Directory of Open Access Journals (Sweden)

    Besser MW

    2016-09-01

    Full Text Available Martin W Besser,1 Stephen G MacDonald2 1Department of Haematology, 2Department of Specialist Haemostasis, The Pathology Partnership, Addenbrooke’s Hospital, Cambridge, UK Abstract: Acquired hypofibrinogenemia is most frequently caused by hemodilution and consumption of clotting factors. The aggressive replacement of fibrinogen has become one of the core principles of modern management of massive hemorrhage. The best method for determining the patient’s fibrinogen level remains controversial, and particularly in acquired dysfibrinogenemia, could have major therapeutic implications depending on which quantification method is chosen. This review introduces the available laboratory and point-of-care methods and discusses the relative advantages and limitations. It also discusses current strategies for the correction of hypofibrinogenemia. Keywords: Clauss fibrinogen assay, fibrinogen antigen, viscoelastic testing, ­gravimetric fibrinogen assay, PT-derived fibrinogen, functional fibrinogen, direct oral anticoagulant, dysfibrinogenemia, afibrinogenemia

  19. UPD detection using homozygosity profiling with a SNP genotyping microarray.

    Science.gov (United States)

    Papenhausen, Peter; Schwartz, Stuart; Risheg, Hiba; Keitges, Elisabeth; Gadi, Inder; Burnside, Rachel D; Jaswaney, Vikram; Pappas, John; Pasion, Romela; Friedman, Kenneth; Tepperberg, James

    2011-04-01

    Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high-density whole genome analysis of copy number and genotype. In the past 21 months we have analyzed over 13,000 samples primarily referred for developmental delay using the Affymetrix SNP/CN 6.0 version array platform. In addition to copy number, we have focused on the relative distribution of allele homozygosity (HZ) throughout the genome to confirm a strong association of uniparental disomy (UPD) with regions of isoallelism found in most confirmed cases of UPD. We sought to determine whether a long contiguous stretch of HZ (LCSH) greater than a threshold value found only in a single chromosome would correlate with UPD of that chromosome. Nine confirmed UPD cases were retrospectively analyzed with the array in the study, each showing the anticipated LCSH with the smallest 13.5 Mb in length. This length is well above the average longest run of HZ in a set of control patients and was then set as the prospective threshold for reporting possible UPD correlation. Ninety-two cases qualified at that threshold, 46 of those had molecular UPD testing and 29 were positive. Including retrospective cases, 16 showed complete HZ across the chromosome, consistent with total isoUPD. The average size LCSH in the 19 cases that were not completely HZ was 46.3 Mb with a range of 13.5-127.8 Mb. Three patients showed only segmental UPD. Both the size and location of the LCSH are relevant to correlation with UPD. Further studies will continue to delineate an optimal threshold for LCSH/UPD correlation. Copyright © 2011 Wiley-Liss, Inc.

  20. Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study

    Directory of Open Access Journals (Sweden)

    Jeffrey A. Bennett

    2017-02-01

    Full Text Available Prader-Willi syndrome (PWS, a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2, the Social Communication Questionnaire (SCQ, Social Responsiveness Scale-2 (SRS-2, Social Skills Improvement System-Rating Scales (SSIS-RS, and the Vineland Adaptive Behavioral Scales-II (VABS-II. General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL and eight uniparental disomy (UPD (with a total of 6 female UPD cases. Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS and observational assessment (ADOS-2 was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.

  1. Discovery and resolve: the Human Genetics Society of Australasia Oration 2011.

    Science.gov (United States)

    Pearn, John

    2011-10-01

    Human genetics spans every facet of biology from molecular science, through laboratory and clinical practice, to psychology and anthropology. In each of these areas, the history of human genetics has been punctuated by paradigm shifts in knowledge. Each such new concept has been received with skepticism, often with perplexity, and sometimes with frank incredulity. Such comprise the datum milestones along the path leading to our present corpus of genetic knowledge. In parallel to the personal threats to Copernicus and Galileo in the field of astronomy in the 17th century, almost all genetic discoveries of the 19th and 20th centuries were seen as challenges to the received wisdom, and sometimes the social order, of their time and place. Researchers, scientists and clinicians encountering such new and often-heretical paradigm shifts have required considerable resolve to promote and publish their work. Just as in the field of astronomy, new directions in genetics have threatened not only the reputations and sometimes the careers of scientists, but also have been challenges to fundamental religious and sociological beliefs in society more broadly. Examples followed the discovery of biological sexual dimorphism (in plants as well as animals) by Nehemiah Grew (1641-1712). Darwinian evolution, Mendel's First and Second Laws, the existence of mitochondrial genes, apoptosis and its genetic basis, and uniparental disomy are more recent examples. Many of these new revelations, which today have led to the current understanding of fundamental biology, were discovered by individuals working in relative isolation. To promote and publish findings that fundamentally challenge received wisdom continues to require considerable resolve, if not courage. Herein lies a message for all clinicians and researchers.

  2. Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

    Science.gov (United States)

    Calvello, Mariarosaria; Tabano, Silvia; Colapietro, Patrizia; Maitz, Silvia; Pansa, Alessandra; Augello, Claudia; Lalatta, Faustina; Gentilin, Barbara; Spreafico, Filippo; Calzari, Luciano; Perotti, Daniela; Larizza, Lidia; Russo, Silvia; Selicorni, Angelo; Sirchia, Silvia M; Miozzo, Monica

    2013-01-01

    Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic alterations that dysregulate the imprinted genes on chromosome region 11p15.5. Molecular analysis is required to reinforce the clinical diagnosis of BWS and to identify BWS patients with cancer susceptibility. This is particularly crucial prenatally because most signs of BWS cannot be recognized in utero. We established a reliable molecular assay by pyrosequencing to quantitatively evaluate the methylation profiles of ICR1 and ICR2. We explored epigenotype-phenotype correlations in 19 patients that fulfilled the clinical diagnostic criteria for BWS, 22 patients with suspected BWS, and three fetuses with omphalocele. Abnormal methylation was observed in one prenatal case and 19 postnatal cases, including seven suspected BWS. Seven cases showed ICR1 hypermethylation, five cases showed ICR2 hypomethylation, and eight cases showed abnormal methylation of ICR1 and ICR2 indicating paternal uniparental disomy (UPD). More cases of ICR1 alterations and UPD were found than expected. This is likely due to the sensitivity of this approach, which can detect slight deviations in methylation from normal levels. There was a significant correlation (p < 0.001) between the percentage of ICR1 methylation and BWS features: severe hypermethylation (range: 75–86%) was associated with macroglossia, macrosomia, and visceromegaly, whereas mild hypermethylation (range: 55–59%) was associated with umbilical hernia and diastasis recti. Evaluation of ICR1 and ICR2 methylation by pyrosequencing in BWS can improve epigenotype-phenotype correlations, detection of methylation alterations in suspected cases, and identification of UPD. PMID:23917791

  3. Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

    Directory of Open Access Journals (Sweden)

    Aram Yang

    2015-03-01

    Full Text Available PurposePrader-Willi syndrome (PWS is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenesis of microdeletion in PWS. In this study, we investigated birth seasonality in Korean PWS.MethodsA total of 211 PWS patients born from 1980 to 2014 were diagnosed by methylation polymerase chain reaction at Samsung Medical Center. Of the 211 patients, 138 were born from 2000-2013. Among them, the 74 patients of a deletion group and the 22 patients of a maternal uniparental disomy (UPD group were compared with general populations born from 2000 using the Walter and Elwood method and cosinor analysis.ResultsThere was no statistical significance in seasonal variation in births of the total 211 patients with PWS (χ2=7.2522, P=0.2982. However, a significant difference was found in the monthly variation between PWS with the deletion group and the at-risk general population (P<0.05. In the cosinor model, the peak month of birth for PWS patients in the deletion group was January, while the nadir occurred in July, with statistical significance (amplitude=0.23, phase=1.2, low point=7.2. The UPD group showed the peak birth month in spring; however, this result was not statistically significant (χ2=3.39, P=0.1836.ConclusionCorrelation with birth seasonality was identified in a deletion group of Korean PWS patients. Further studies are required to identify the mechanism related to seasonal effects of environmental factors on microdeletion on chromosome 15.

  4. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.

    Science.gov (United States)

    Rocha, C F; Paiva, C L A

    2014-03-31

    Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the "National Center for Biotechnology Information" (www.pubmed.com) and "Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as "Prader-Willi-like phenotype" and "Prader-Willi syndrome phenotype". Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.

  5. Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study.

    Science.gov (United States)

    Bennett, Jeffrey A; Hodgetts, Sandra; Mackenzie, Michelle L; Haqq, Andrea M; Zwaigenbaum, Lonnie

    2017-02-28

    Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Communication Questionnaire (SCQ), Social Responsiveness Scale-2 (SRS-2), Social Skills Improvement System-Rating Scales (SSIS-RS), and the Vineland Adaptive Behavioral Scales-II (VABS-II). General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE) diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL) and eight uniparental disomy (UPD) (with a total of 6 female UPD cases). Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS) and observational assessment (ADOS-2) was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.

  6. The biology of myelodysplastic syndromes: unity despite heterogeneity

    Directory of Open Access Journals (Sweden)

    Azra Raza

    2010-06-01

    Full Text Available Myelodysplastic syndromes (MDS traditionally have been grouped together as a disease entity based on clinical phenomena seen in association. Despite the similarities, there is great heterogeneity among the syndromes. Recent insights have shown, however, that there exists a biologically cohesive theme that unifies and thereby validates the conceptual interconnectedness. The first suggestion that such a relationship existed where biology could directly explain the observed cytopenias was the finding of excessive premature apoptosis of hematopoietic cells in MDS marrows. This apoptosis was mediated by paracrine as well as autocrine factors implicating both the seed and the soil in the pathology of the disease. Pro-inflammatory cytokines in the marrow microenvironment were mainly the paracrine mediators of apoptosis, but how the clonal cells committed suicide because of autocrine stimulation had remained a mystery for more than a decade. It has been shown now that deregulation of ribosome biogenesis can initiate a stress response in the cell through the p53 signaling pathway. Congenital anemias had been associated with mutations in ribosomal protein genes. The surprise came with the investigation of 5q- syndrome patients where haplo-insufficiency of the ribosomal protein gene RPS14 was found to be the cause of this MDS subtype. Similar ribosomal deregulation was shown to be present in all varieties of MDS patients, serving as another unifying characteristic. In addition to these findings, there are other DNA-related abnormalities such as uniparental disomy, mutations in the TET2 gene, and epigenetic phenomena that are associated with and occur across all types of MDS. This paper summarizes the themes unifying this heterogeneous group of diseases.

  7. Pneumonia - children - community acquired

    Science.gov (United States)

    Bronchopneumonia - children; Community-acquired pneumonia - children; CAP - children ... Viruses are the most common cause of pneumonia in infants and children. Ways your child can get CAP include: Bacteria and viruses living in the nose, sinuses, or mouth may spread ...

  8. Horizontal gene transfer of a plastid gene in the non-photosynthetic flowering plants Orobanche and Phelipanche (Orobanchaceae).

    Science.gov (United States)

    Park, Jeong-Mi; Manen, Jean-François; Schneeweiss, Gerald M

    2007-06-01

    Plastid sequences are among the most widely used in phylogenetic and phylogeographic studies in flowering plants, where they are usually assumed to evolve like non-recombining, uniparentally transmitted, single-copy genes. Among others, this assumption can be violated by intracellular gene transfer (IGT) within cells or by the exchange of genes across mating barriers (horizontal gene transfer, HGT). We report on HGT of a plastid region including rps2, trnL-F, and rbcL in a group of non-photosynthetic flowering plants. Species of the parasitic broomrape genus Phelipanche harbor two copies of rps2, a plastid ribosomal gene, one corresponding to the phylogenetic position of the respective species, the other being horizontally acquired from the related broomrape genus Orobanche. While the vertically transmitted copies probably reside within the plastid genome, the localization of the horizontally acquired copies is not known. With both donor and recipient being parasitic plants, a possible pathway for the exchange of genetic material is via a commonly attacked host.

  9. Connectionist neuropsychology: uncovering ultimate causes of acquired dyslexia.

    Science.gov (United States)

    Woollams, Anna M

    2014-01-01

    Acquired dyslexia offers a unique window on to the nature of the cognitive and neural architecture supporting skilled reading. This paper provides an integrative overview of recent empirical and computational work on acquired dyslexia within the context of the primary systems framework as implemented in connectionist neuropsychological models. This view proposes that damage to general visual, phonological or semantic processing abilities are the root causes of different forms of acquired dyslexia. Recent case-series behavioural evidence concerning pure alexia, phonological dyslexia and surface dyslexia that supports this perspective is presented. Lesion simulations of these findings within connectionist models of reading demonstrate the viability of this approach. The commitment of such models to learnt representations allows them to capture key aspects of performance in each type of acquired dyslexia, particularly the associated non-reading deficits, the role of relearning and the influence of individual differences in the premorbid state of the reading system. Identification of these factors not only advances our understanding of acquired dyslexia and the mechanisms of normal reading but they are also relevant to the complex interactions underpinning developmental reading disorders.

  10. 19 CFR 148.33 - Articles acquired abroad.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 2 2010-04-01 2010-04-01 false Articles acquired abroad. 148.33 Section 148.33... Articles acquired abroad. (a) Exemption. Each returning resident is entitled to bring in free of duty and..., Harmonized Tariff Schedule of the United States (19 U.S.C. 1202), articles for his personal or household use...

  11. 26 CFR 1.9002-6 - Acquiring corporation.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 13 2010-04-01 2010-04-01 false Acquiring corporation. 1.9002-6 Section 1.9002... (CONTINUED) INCOME TAXES General Actuarial Valuations § 1.9002-6 Acquiring corporation. Section 5(d) of the... corporation by another corporation in a distribution or transfer described in section 381(a) of the Code the...

  12. Acquired hypertrichosis lanuginosa

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    1993-01-01

    Full Text Available Acquired hypertirichosis lanuginose developed rapidly in a patient with no detectable malignancy. Soft, fine, downy hair growth was noticed on the face, ears, limbs and trunk. Bilaterally symmetrical vitiliginous macules were present on the ear and preauricular region. This case is reported because of its rarity, absence of any detectable malignancy and development of vitiligo, which to our knowledge has not been reported earlier.

  13. Hospital-Acquired Condition Reduction Program

    Data.gov (United States)

    U.S. Department of Health & Human Services — In October 2014, CMS began reducing Medicare payments for subsection (d) hospitals that rank in the worst performing quartile with respect to hospital-acquired...

  14. Acquired ichthyosis with hoffman's syndrome

    Directory of Open Access Journals (Sweden)

    Sathyanarayana B

    2003-01-01

    Full Text Available A middle aged man presented with features of acquired ichthyosis with Hoffman's syndrome. Laboratory tests support hypothyodism. Myoedema and hypertrophy of muscles were present. Patient was previously treated for Pellagra.

  15. Occupationally Acquired American Cutaneous Leishmaniasis

    Directory of Open Access Journals (Sweden)

    Maria Edileuza Felinto de Brito

    2012-01-01

    Full Text Available We report two occupationally acquired cases of American cutaneous leishmaniasis (ACL: one accidental laboratory autoinoculation by contaminated needlestick while handling an ACL lesion sample, and one acquired during field studies on bird biology. Polymerase chain reaction (PCR assays of patient lesions were positive for Leishmania, subgenus Viannia. One isolate was obtained by culture (from patient 2 biopsy samples and characterized as Leishmania (Viannia naiffi through an indirect immunofluorescence assay (IFA with species-specific monoclonal antibodies (mAbs and by multilocus enzyme electrophoresis (MLEE. Patients were successfully treated with N-methyl-glucamine. These two cases highlight the potential risks of laboratory and field work and the need to comply with strict biosafety procedures in daily routines. The swab collection method, coupled with PCR detection, has greatly improved ACL laboratory diagnosis.

  16. 7 CFR 3575.90 - Disposition of acquired property.

    Science.gov (United States)

    2010-01-01

    ... property. (a) General. When the lender acquires title to the collateral and the final loss claim is not... 7 Agriculture 15 2010-01-01 2010-01-01 false Disposition of acquired property. 3575.90 Section... protect the collateral, and the lender must dispose of the collateral without delay. (b) Re-title...

  17. Acquired factor VII deficiency associated with acute myeloid leukemia.

    Science.gov (United States)

    Anoun, Soumaya; Lamchahab, Mouna; Oukkache, Bouchra; Qachouh, Maryam; Benchekroun, Said; Quessar, Asmaa

    2015-04-01

    Isolated acquired factor VII deficiency is a rare coagulopathy. It has been reported in 31 patients with malignancy, sepsis, postoperatively, aplastic anemia, and during bone marrow transplantation. We discuss, through a new case of acquired factor VII deficiency, the characteristics of this disease when it is associated with acute myeloid leukemia. Acquired factor VII deficiency in hematological diseases can be caused by intensive chemotherapy, infections, or hepatic dysfunction. The best treatment in developing countries remains corticosteroids associated with plasma exchange, frozen plasma, and antibiotics.

  18. Immunomodulation in community-acquired pneumonia

    NARCIS (Netherlands)

    Remmelts, H.H.F.

    2013-01-01

    Community-acquired pneumonia (CAP) is a common disease with considerable morbidity and mortality, despite effective antibiotic treatment. In this thesis, we showed that the major causative microorganisms in CAP trigger distinct inflammatory response profiles in the host. While an inflammatory

  19. Impacts of Mergers and Acquisitions on Acquirer Banks’ Performance

    Directory of Open Access Journals (Sweden)

    Burhan Ali Shah

    2017-09-01

    Full Text Available This study investigates the effects of mergers and acquisitions (M & A on the operating performance of the acquirer banks in Pakistan. For this purpose, a sample of 18 transactions, involving acquirer banks, listed on the Karachi Stock Exchange, is used. The Financial Ratio Analysis (FRA is used to determine the effects of M & A. The significance of change in the operating performances is tested through a paired sample t-test. The results indicate deterioration in the performances of the acquirer banks in the post-merger period.

  20. Pulmonary infiltrates during community acquired Gram-negative bacteremia

    DEFF Research Database (Denmark)

    Fjeldsøe-Nielsen, Hans; Gjeraa, Kirsten; Berthelsen, Birgitte G

    2013-01-01

    The primary aim of this study was to describe the frequency of pulmonary infiltrates on chest X-ray (CXR) during community acquired Gram-negative bacteremia at a single centre in Denmark.......The primary aim of this study was to describe the frequency of pulmonary infiltrates on chest X-ray (CXR) during community acquired Gram-negative bacteremia at a single centre in Denmark....

  1. Mitigating Mitochondrial Genome Erosion Without Recombination.

    Science.gov (United States)

    Radzvilavicius, Arunas L; Kokko, Hanna; Christie, Joshua R

    2017-11-01

    Mitochondria are ATP-producing organelles of bacterial ancestry that played a key role in the origin and early evolution of complex eukaryotic cells. Most modern eukaryotes transmit mitochondrial genes uniparentally, often without recombination among genetically divergent organelles. While this asymmetric inheritance maintains the efficacy of purifying selection at the level of the cell, the absence of recombination could also make the genome susceptible to Muller's ratchet. How mitochondria escape this irreversible defect accumulation is a fundamental unsolved question. Occasional paternal leakage could in principle promote recombination, but it would also compromise the purifying selection benefits of uniparental inheritance. We assess this tradeoff using a stochastic population-genetic model. In the absence of recombination, uniparental inheritance of freely-segregating genomes mitigates mutational erosion, while paternal leakage exacerbates the ratchet effect. Mitochondrial fusion-fission cycles ensure independent genome segregation, improving purifying selection. Paternal leakage provides opportunity for recombination to slow down the mutation accumulation, but always at a cost of increased steady-state mutation load. Our findings indicate that random segregation of mitochondrial genomes under uniparental inheritance can effectively combat the mutational meltdown, and that homologous recombination under paternal leakage might not be needed. Copyright © 2017 by the Genetics Society of America.

  2. Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder

    Directory of Open Access Journals (Sweden)

    Graw Sharon L

    2012-01-01

    Full Text Available Abstract Background A small percentage of all cases of schizophrenia have a childhood onset. The impact on the individual and family can be devastating. We report the results of genetic analyses from a patient with onset of visual hallucinations at 5 years, and a subsequent diagnosis at 9 years of schizophrenia, attention deficit hyperactivity disorder (ADHD with hyperactivity and impulsivity, and chronic motor tic disorder. Results Karyotypic analysis found 45,XX,i(13(q10 in all cells examined. Alpha satellite FISH of isochromosome 13 revealed a large unsplit centromeric region, interpreted as two centromeres separated by minimal or undetectable short-arm material or as a single monocentric centromere, indicating that the isochromosome likely formed post-zygotically by a short arm U-type or centromeric exchange. Characterization of chromosome 13 simple tandem repeats and Affymetrix whole-genome 6.0 SNP array hybridization found homozygosity for all markers, and the presence of only a single paternal allele in informative markers, consistent with an isodisomic isochromosome of paternal origin. Analysis of two chromosome 13 schizophrenia candidate genes, D-amino acid oxidase activator (DAOA and 5-hydroxytryptamine (serotonin receptor 2A (5-HTR2A, failed to identify non-synonymous coding mutations but did identify homozygous risk polymorphisms. Conclusions We report a female patient with childhood-onset schizophrenia, ADHD, and motor tic disorder associated with an isodisomic isochromosome 13 of paternal origin and a 45,XX,i(13(q10q10 karyotype. We examined two potential mechanisms to explain chromosome 13 involvement in the patient's pathology, including reduction to homozygosity of a paternal mutation and reduction to homozygosity of a paternal copy number variation, but were unable to identify any overtly pathogenic abnormality. Future studies may consider whether epigenetic mechanisms resulting from uniparental disomy (UPD and the lack of

  3. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

    Science.gov (United States)

    Inoue, Takanobu; Nakamura, Akie; Fuke, Tomoko; Yamazawa, Kazuki; Sano, Shinichiro; Matsubara, Keiko; Mizuno, Seiji; Matsukura, Yoshika; Harashima, Chie; Hasegawa, Tatsuji; Nakajima, Hisakazu; Tsumura, Kumi; Kizaki, Zenro; Oka, Akira; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo

    2017-01-01

    Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19 -differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs. We performed array comparative genomic hybridization analysis using a catalog array for 54 patients satisfying the Netchine-Harbison clinical scoring system (NH-CSS) (SRS-compatible) and for 28 patients presenting with three NH-CSS items together with triangular face and/or fifth finger clinodactyly and/or brachydactyly (SRS-like) without abnormal methylation levels of 9 DMRs related to known imprinting disorders. We then investigated the clinical features of patients with PCNVs. Three of the 54 SRS-compatible patients (5.6%) and 2 of the 28 SRS-like patients (7.1%) had PCNVs. We detected 3.5 Mb deletion in 4p16.3, mosaic trisomy 18, and 3.77-4.00 Mb deletion in 19q13.11-12 in SRS-compatible patients, and 1.41-1.97 Mb deletion in 7q11.23 in both SRS-like patients. Congenital heart diseases (CHDs) were identified in two patients and moderate to severe global developmental delay was observed in four patients. Of the patients in our study, 5.6% of SRS-compatible and 7.1% of SRS-like patients had PCNVs. All PCNVs have been previously reported for genetic causes of contiguous deletion syndromes or mosaic trisomy 18. Our study suggests patients with PCNVs, who have a phenotype resembling SRS, show a high tendency towards CHDs and/or apparent developmental delay.

  4. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome.

    Directory of Open Access Journals (Sweden)

    Jennifer L Daily

    Full Text Available Angelman syndrome (AS, a genetic disorder occurring in approximately one in every 15,000 births, is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes for E6-AP, an ubiquitin ligase. A unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In the majority of AS cases, there is a mutation or deletion in the maternally inherited UBE3A gene, although other cases are the result of uniparental disomy or mismethylation of the maternal gene. While most human disorders characterized by severe mental retardation involve abnormalities in brain structure, no gross anatomical changes are associated with AS. However, we have determined that abnormal calcium/calmodulin-dependent protein kinase II (CaMKII regulation is seen in the maternal UBE3A deletion AS mouse model and is responsible for the major phenotypes. Specifically, there is an increased αCaMKII phosphorylation at the autophosphorylation sites Thr(286 and Thr(305/306, resulting in an overall decrease in CaMKII activity. CaMKII is not produced until after birth, indicating that the deficits associated with AS are not the result of developmental abnormalities. The present studies are focused on exploring the potential to rescue the learning and memory deficits in the adult AS mouse model through the use of an adeno-associated virus (AAV vector to increase neuronal UBE3A expression. These studies show that increasing the levels of E6-AP in the brain using an exogenous vector can improve the cognitive deficits associated with AS. Specifically, the associative learning deficit was ameliorated in the treated AS mice compared to the control AS mice, indicating that therapeutic intervention may be possible in older AS patients.

  5. Leukemia Associated Antigens: Their Dual Role as Biomarkers and Immunotherapeutic Targets for Acute Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Michael Schmitt

    2007-01-01

    : uniparental disomy; WHO: World Health Organization; WT1: Wilm’s Tumor gene 1.

  6. Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum

    Directory of Open Access Journals (Sweden)

    Kohji Okamura

    2015-12-01

    Full Text Available Cells from a patient with a DNA repair-deficiency disorder are anticipated to bear a large number of somatic mutations. Because such mutations occur independently in each cell, there is a high degree of mosaicism in patients' tissues. While major mutations that have been expanded in many cognate cells are readily detected by sequencing, minor ones are overlaid with a large depth of non-mutated alleles and are not detected. However, cell cloning enables us to observe such cryptic mutations as well as major mutations. In the present study, we focused on a fibroblastic cell line that is derived from a patient diagnosed with xeroderma pigmentosum (XP, which is an autosomal recessive disorder caused by a deficiency in nucleotide excision repair. By making a list of somatic mutations, we can expect to see a characteristic pattern of mutations caused by the hereditary disorder. We cloned a cell by generating an iPS cell line and performed a whole-exome sequencing analysis of the progenitor and its iPS cell lines. Unexpectedly, we failed to find causal mutations in the XP-related genes, but we identified many other mutations including homozygous deletion of GSTM1 and GSTT1. In addition, we found that the long arm of chromosome 9 formed uniparental disomy in the iPS cell line, which was also confirmed by a structural mutation analysis using a SNP array. Type and number of somatic mutations were different from those observed in XP patients. Taken together, we conclude that the patient might be affected by a different type of the disorder and that some of the mutations that we identified here may be responsible for exhibiting the phenotype. Sequencing and SNP-array data have been submitted to SRA and GEO under accession numbers SRP059858 and GSE55520, respectively.

  7. Gender specific issues in hereditary ocular disorders.

    Science.gov (United States)

    Iragavarapu, Saradha; Gorin, Michael B

    2015-02-01

    This review is intended to summarize the current knowledge from basic science and clinical medical literature cited within PubMed that pertain to gender-related factors and affect those individuals with hereditary ocular disorders. We consider gender-related biological factors that (a) affect disease onset and progression, (b) gender differences for major X-linked ocular disorders, (c) gender-specific conditions, (d) medications that may influence genetic eye disorders, and finally, (e) gender-related issues that influence the management and quality of life of these patients. Several studies have demonstrated the manner in which sex-related hormones in animal models are capable of influencing cell pathway and survival that are likely to affect hereditary eye disorders. There are very few clinical studies that provide compelling evidence for gender differences in human ocular conditions, other than for a number of X-linked disorders. Disease expression for X-linked disorders may be impacted by genetic mechanisms such as lyonization or uniparental disomy. Clinical evidence regarding the impact of gender-related medical conditions and therapies on eye conditions is extremely limited and primarily based on anecdotal evidence. Gender-specific factors may play a major role in the underlying biological pathways that influence the onset, rate of progression, and clinical findings associated with ocular genetic conditions. Clinicians need to be aware of the variable phenotypes observed in female carriers of X-linked disorders of gender specific issues, many of which are inadequately addressed in the current literature. Clinicians need to be sensitive to gender differences in social, cultural, and religious systems and they should also be aware of how their own gender biases may influence how they counsel patients. Finally, it is clear that the lack of effective clinical studies in this area creates an opportunity for future research that will have real benefits for these

  8. MRI of fetal acquired brain lesions

    International Nuclear Information System (INIS)

    Prayer, Daniela; Brugger, Peter C.; Kasprian, Gregor; Witzani, Linde; Helmer, Hanns; Dietrich, Wolfgang; Eppel, Wolfgang; Langer, Martin

    2006-01-01

    Acquired fetal brain damage is suspected in cases of destruction of previously normally formed tissue, the primary cause of which is hypoxia. Fetal brain damage may occur as a consequence of acute or chronic maternal diseases, with acute diseases causing impairment of oxygen delivery to the fetal brain, and chronic diseases interfering with normal, placental development. Infections, metabolic diseases, feto-fetal transfusion syndrome, toxic agents, mechanical traumatic events, iatrogenic accidents, and space-occupying lesions may also qualify as pathologic conditions that initiate intrauterine brain damage. MR manifestations of acute fetal brain injury (such as hemorrhage or acute ischemic lesions) can easily be recognized, as they are hardly different from postnatal lesions. The availability of diffusion-weighted sequences enhances the sensitivity in recognizing acute ischemic lesions. Recent hemorrhages are usually readily depicted on T2 (*) sequences, where they display hypointense signals. Chronic fetal brain injury may be characterized by nonspecific changes that must be attributable to the presence of an acquired cerebral pathology. The workup in suspected acquired fetal brain injury also includes the assessment of extra-CNS organs that may be affected by an underlying pathology. Finally, the placenta, as the organ that mediates oxygen delivery from the maternal circulation to the fetus, must be examined on MR images

  9. MRI of fetal acquired brain lesions

    Energy Technology Data Exchange (ETDEWEB)

    Prayer, Daniela [Department of Radiodiagnostics, Medical University of Vienna (Austria)]. E-mail: daniela.prayer@meduniwien.ac.at; Brugger, Peter C. [Center of Anatomy and Cell Biology, Medical University of Vienna (Austria); Kasprian, Gregor [Department of Radiodiagnostics, Medical University of Vienna (Austria); Witzani, Linde [Department of Radiodiagnostics, Medical University of Vienna (Austria); Helmer, Hanns [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria); Dietrich, Wolfgang [Department of Neurosurgery, Medical University of Vienna (Austria); Eppel, Wolfgang [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria); Langer, Martin [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria)

    2006-02-15

    Acquired fetal brain damage is suspected in cases of destruction of previously normally formed tissue, the primary cause of which is hypoxia. Fetal brain damage may occur as a consequence of acute or chronic maternal diseases, with acute diseases causing impairment of oxygen delivery to the fetal brain, and chronic diseases interfering with normal, placental development. Infections, metabolic diseases, feto-fetal transfusion syndrome, toxic agents, mechanical traumatic events, iatrogenic accidents, and space-occupying lesions may also qualify as pathologic conditions that initiate intrauterine brain damage. MR manifestations of acute fetal brain injury (such as hemorrhage or acute ischemic lesions) can easily be recognized, as they are hardly different from postnatal lesions. The availability of diffusion-weighted sequences enhances the sensitivity in recognizing acute ischemic lesions. Recent hemorrhages are usually readily depicted on T2 (*) sequences, where they display hypointense signals. Chronic fetal brain injury may be characterized by nonspecific changes that must be attributable to the presence of an acquired cerebral pathology. The workup in suspected acquired fetal brain injury also includes the assessment of extra-CNS organs that may be affected by an underlying pathology. Finally, the placenta, as the organ that mediates oxygen delivery from the maternal circulation to the fetus, must be examined on MR images.

  10. Multinational Exploration of Acquired R&D Activities

    DEFF Research Database (Denmark)

    Gammelgaard, Jens

    2004-01-01

    R&D. This paper establishes the connection between amultinational corporation that follows a capability-motivated acquisition strategy and theR&D role new subsidiaries should play in order for the acquired resources to be utilizedcorporation-wide. Statistical findings reveal the need to follow......This paper presents the results of a survey of 54 Danish multinational corporations that haveacquired activities abroad. The role of the acquired R&D units was the focus of the survey,particularly with respect to the schism between basic and applied R&D, and the schismbetween autonomous and network...

  11. A case of acquired port wine stain: an association with repeated sunburn?

    Science.gov (United States)

    Seremet, Sila; Benar, Elif B; Afsar, Fatma Sule; Calli, Aylin; Ulusarac, Ozlem

    2016-10-01

    Unlike congenital port wine stain (PWS), an acquired PWS is a rare vascular lesion that develops later in life. Although solar damage is associated with acquired PWS, there is no reported case of acquired PWS after sunburn in the literature. We report a case of a 54-year-old man diagnosed with acquired PWS possibly caused by repeated sunburn. We recommended laser treatment to our patient; however, the patient did not chose to receive any treatment. Our case demonstrates a possible rare occurrence of an acquired PWS after sunburn with larger lesions and more diffuse distribution. For this reason, our case differs from other acquired PWS cases. © 2016 The International Society of Dermatology.

  12. Acquired versus Non-Acquired Subsidiaries - Which Entry Mode do Parent Firms Prefer

    OpenAIRE

    Esther Kalkbrenner

    2010-01-01

    Despite the economic importance of international foreign direct investment (FDI) flows, investment decisions of multinational firms are not well understood. A multinational firm can establish a subsidiary in a foreign country through greenfield investment or through acquiring an existing firm in the target country. The goal of this paper is to shed some light on the determinants of foreign market entry modes. In particular to analyze the systematic variation in the mode choice of FDI, namely ...

  13. The challenge of retaining customers acquired with free trials

    NARCIS (Netherlands)

    Datta, H.; Foubert, B.; van Heerde, H.J.

    Many service firms acquire customers by offering free-trial promotions. A crucial challenge is to retain customers acquired with these free trials. To address this challenge, firms need to understand how free-trial customers differ from regular customers in terms of their decision making to retain

  14. Recurrent and acquired tracheoesophageal fistulae (TEF)-Minimally invasive management.

    Science.gov (United States)

    Nazir, Zafar; Khan, Muhammad Arif Mateen; Qamar, Javaria

    2017-10-01

    Recurrent and acquired fistulae are a serious complication of congenital esophageal atresia and tracheoesophageal fistula (TEF) repair and foreign body ingestion (FBI) (e.g., button battery). We report our experience with a minimally invasive approach to recurrent and acquired TEF. Medical records of patients referred for management of recurrent and acquired TEF between 2003 and 2015 were reviewed retrospectively. Patients underwent endoscopic procedures (de-epithelization of fistulous tract and fibrin tissue adhesive-Tisseel R ) under general anesthesia. Nine children (7 male, 2 female) with age range 3months to 3years (mean 1.5year) were managed. TEF closed spontaneously in four patients, whereas in 5 patients the TEF closed after combined endoscopic procedure. Three patients required repeat endoscopic procedures. Follow-up ranged between 7months to 10years (mean 4.2years). Active observation and repeat combined endoscopic procedures are safe alternatives to open surgical repair of acquired and recurrent TEF. Level IV study. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Common acquired kidney diseases in children

    African Journals Online (AJOL)

    5. Common acquired kidney diseases in children. Examination of the urine is probably the most important investigation ... result from the same streptococcal infection. .... musculoskeletal system. ... Prediction of histopathology from clinical.

  16. A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

    Science.gov (United States)

    Kohmoto, Tomohiro; Okamoto, Nana; Naruto, Takuya; Murata, Chie; Ouchi, Yuya; Fujita, Naoko; Inagaki, Hidehito; Satomura, Shigeko; Okamoto, Nobuhiko; Saito, Masako; Masuda, Kiyoshi; Kurahashi, Hiroki; Imoto, Issei

    2017-01-01

    Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented. Here, we report on the chromosomal microarray (CMA)-based identification of the first known case with concurrent interstitial duplication at 1q42.12-q42.2 and triplication at 1q42.2-q43 followed by isoUPD for the remainder of chromosome 1q (at 1q43-qter). In distal 1q duplication/triplication overlapping with 1q42.12-q43, variable clinical features have been reported, and our 25-year-old patient with MCA/ID presented with some of these frequently described features. Further analyses including the precise mapping of breakpoint junctions within the CGR in a sequence level suggested that the CGR found in association with isoUPD in our case is a triplication with flanking duplications, characterized as a triplication with a particularly long duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) structure. Because microhomology was observed in both junctions between the triplicated region and the flanking duplicated regions, our case provides supportive evidence for recently proposed replication-based mechanisms, such as MMBIR, underlying the formation of CGRs + isoUPD implicated in chromosomal disorders. To the best of our knowledge, this is the first case of CGRs + isoUPD observed in 1q and having DUP-TRP/INV-DUP structure with a long proximal duplication, which supports MMBIR-based model for genomic rearrangements. Molecular cytogenetic analyses using CMA containing single

  17. 33 CFR 211.2 - Authority to acquire real estate.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false Authority to acquire real estate..., DEPARTMENT OF DEFENSE REAL ESTATE ACTIVITIES OF THE CORPS OF ENGINEERS IN CONNECTION WITH CIVIL WORKS PROJECTS Real Estate; General § 211.2 Authority to acquire real estate. (a) Congressional authority...

  18. Enhancing Medicares Hospital Acquired Conditions Policy

    Data.gov (United States)

    U.S. Department of Health & Human Services — The current Medicare policy of non-payment to hospitals for Hospital Acquired Conditions (HAC) seeks to avoid payment for preventable complications identified within...

  19. [Acquired angioedema – clinical characteristic of the patients diagnosed in 2012-2016 with acquired C1 inhibitor deficiency].

    Science.gov (United States)

    Stobiecki, Marcin; Czarnobilska, Ewa; Obtułowicz, Krystyna

    Acquired angioedema is a rare disease caused by a deficiency of C1 esterase inhibitor with recurrent swelling symptoms. It may occur in the course of lymphoproliferative disorders or autoimmune diseases. Symptoms resemble hereditary angioedema, and the only differentiating features is negative family history, late onset of symptoms and accompanying lymphoproliferative disorder. The aim of the study was to analyze the cases of acquired angioedema. The retrospective analysis of 341 patients from the registry of patients with C1 inhibitor deficiency. Results: We identified 4 patients among 119 with HAE (3.57%) diagnosed in this same period of time 2012-2016 who fulfilled the criteria of acquired edema. In two cases the primary reason of angioedema was lymphoproliferive disease, in two monoclonal gammapathy of unknown reason. We analyzed also the results of laboratory tests C4, C1 inhibitor, C1q. In all cases the face was dominated localization. After the treatment of primary lymphoproliferive disease, in two cases, we observed total remission of angioedema. Only one patient with gammapathy require treatment with C1 inhibitor during the attacks. In these case we observed both plasma deriver, and recombinant C1 inhibitor were effective.

  20. Neural basis of acquired amusia and its recovery after stroke

    OpenAIRE

    Sihvonen, A.J.; Ripollés, P.; Leo, V.; Rodríguez-Fornells, Antoni; Soinila, S.; Särkämö, T.

    2016-01-01

    Although acquired amusia is a relatively common disorder after stroke, its precise neuroanatomical basis is still unknown. To evaluate which brain regions form the neural substrate for acquired amusia and its recovery, we performed a voxel-based lesion-symptom mapping (VLSM) and morphometry (VBM) study with 77 human stroke subjects. Structural MRIs were acquired at acute and 6 month poststroke stages. Amusia and aphasia were behaviorally assessed at acute and 3 month poststroke stages using t...

  1. Borrowing and Loan Words: The Lemmatizing of Newly Acquired ...

    African Journals Online (AJOL)

    rbr

    or foreign acquisition. English, for instance, is spoken in many countries on all five continents and is, therefore, able to acquire vocabulary from many lan- guages worldwide. This is coupled with the readiness and the ability of the language to acquire new terminology through borrowing, instead of following the puristic ...

  2. Significance of acquired diverticular disease of the vermiform appendix

    DEFF Research Database (Denmark)

    Kallenbach, Klaus; Hjorth, Sofie Vetli; Engel, Ulla

    2012-01-01

    To assess the prevalence of acquired diverticulum of the appendix (DA), including incipient forms and its possible significance as a marker of local/regional neoplasms.......To assess the prevalence of acquired diverticulum of the appendix (DA), including incipient forms and its possible significance as a marker of local/regional neoplasms....

  3. Significance of anaerobes and oral bacteria in community-acquired pneumonia.

    Directory of Open Access Journals (Sweden)

    Kei Yamasaki

    Full Text Available BACKGROUND: Molecular biological modalities with better detection rates have been applied to identify the bacteria causing infectious diseases. Approximately 10-48% of bacterial pathogens causing community-acquired pneumonia are not identified using conventional cultivation methods. This study evaluated the bacteriological causes of community-acquired pneumonia using a cultivation-independent clone library analysis of the 16S ribosomal RNA gene of bronchoalveolar lavage specimens, and compared the results with those of conventional cultivation methods. METHODS: Patients with community-acquired pneumonia were enrolled based on their clinical and radiological findings. Bronchoalveolar lavage specimens were collected from pulmonary pathological lesions using bronchoscopy and evaluated by both a culture-independent molecular method and conventional cultivation methods. For the culture-independent molecular method, approximately 600 base pairs of 16S ribosomal RNA genes were amplified using polymerase chain reaction with universal primers, followed by the construction of clone libraries. The nucleotide sequences of 96 clones randomly chosen for each specimen were determined, and bacterial homology was searched. Conventional cultivation methods, including anaerobic cultures, were also performed using the same specimens. RESULTS: In addition to known common pathogens of community-acquired pneumonia [Streptococcus pneumoniae (18.8%, Haemophilus influenzae (18.8%, Mycoplasma pneumoniae (17.2%], molecular analysis of specimens from 64 patients with community-acquired pneumonia showed relatively higher rates of anaerobes (15.6% and oral bacteria (15.6% than previous reports. CONCLUSION: Our findings suggest that anaerobes and oral bacteria are more frequently detected in patients with community-acquired pneumonia than previously believed. It is possible that these bacteria may play more important roles in community-acquired pneumonia.

  4. Association between Mycobacterium tuberculosis complex phylogenetic lineage and acquired drug resistance.

    Directory of Open Access Journals (Sweden)

    Courtney M Yuen

    Full Text Available BACKGROUND: Development of resistance to antituberculosis drugs during treatment (i.e., acquired resistance can lead to emergence of resistant strains and consequent poor clinical outcomes. However, it is unknown whether Mycobacterium tuberculosis complex species and lineage affects the likelihood of acquired resistance. METHODS: We analyzed data from the U.S. National Tuberculosis Surveillance System and National Tuberculosis Genotyping Service for tuberculosis cases during 2004-2011 with assigned species and lineage and both initial and final drug susceptibility test results. We determined univariate associations between species and lineage of Mycobacterium tuberculosis complex bacteria and acquired resistance to isoniazid, rifamycins, fluoroquinolones, and second-line injectables. We used Poisson regression with backward elimination to generate multivariable models for acquired resistance to isoniazid and rifamycins. RESULTS: M. bovis was independently associated with acquired resistance to isoniazid (adjusted prevalence ratio = 8.46, 95% CI 2.96-24.14 adjusting for HIV status, and with acquired resistance to rifamycins (adjusted prevalence ratio = 4.53, 95% CI 1.29-15.90 adjusting for homelessness, HIV status, initial resistance to isoniazid, site of disease, and administration of therapy. East Asian lineage was associated with acquired resistance to fluoroquinolones (prevalence ratio = 6.10, 95% CI 1.56-23.83. CONCLUSIONS: We found an association between mycobacterial species and lineage and acquired drug resistance using U.S. surveillance data. Prospective clinical studies are needed to determine the clinical significance of these findings, including whether rapid genotyping of isolates at the outset of treatment may benefit patient management.

  5. 45 CFR 7.4 - Option to acquire foreign rights.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Option to acquire foreign rights. 7.4 Section 7.4... Option to acquire foreign rights. In any case where it is determined that all domestic rights should be...-wide regulations issued thereunder, that the Government shall reserve an option to require the...

  6. 34 CFR 7.4 - Option to acquire foreign rights.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 1 2010-07-01 2010-07-01 false Option to acquire foreign rights. 7.4 Section 7.4 Education Office of the Secretary, Department of Education EMPLOYEE INVENTIONS § 7.4 Option to acquire... issued thereunder, that the Government shall reserve an option to require the assignment of such rights...

  7. Female offspring desertion and male-only care increase with natural and experimental increase in food abundance

    OpenAIRE

    Eldegard, Katrine; Sonerud, Geir A.

    2009-01-01

    In species with biparental care, one parent may escape the costs of parental care by deserting and leaving the partner to care for the offspring alone. A number of theoretical papers have suggested a link between uniparental offspring desertion and ecological factors, but empirical evidence is scarce. We investigated the relationship between uniparental desertion and food abundance in a natural population of Tengmalm's owl Aegolius funereus, both by means of a 5-year observational study and a...

  8. Comparative dermatology: acquired digital fibrokeratoma

    OpenAIRE

    Cunha Filho, Roberto Rheingantz da

    2008-01-01

    Demonstra-se quadro característico de fibroqueratoma digital adquirido em trabalhadora rural de 42 anos de idade, que se compara a corno de rinoceronte.It is presented a case of a 42 year-old white female farmer with the classical feature of acquired digital fibrokeratoma, which is compared to rhinoceros horn.

  9. REVIEW OF A CASE OF CHILD WITH ACQUIRED APHASIA

    Directory of Open Access Journals (Sweden)

    Silvana FILIPOVA

    2004-12-01

    Full Text Available Achieved children speech disabilities are manifested at certain level of development of speech from the age of 3 to 12 years. The speech disabilities with children from the age of one to three years have developmental and acquired characteristics. It is well-known when and why the disabilities occurr at acquired aphasia or disphasia.The child with acquired aphasia or disphasia has early brain impairements and a relative improvement happens with adequate treatment and prompt rehabilitation treatment. It is more obvious with children than with adults.This fast and complete rehabilitation happens due to the plastic character of child’s brain and the possibilities for intro-hemisphere and inter-hemisphere reorganization of speech functions in childhood.

  10. Prognostic value of severity indicators of nursing-home-acquired pneumonia versus community-acquired pneumonia in elderly patients

    Directory of Open Access Journals (Sweden)

    Ugajin M

    2014-02-01

    Full Text Available Motoi Ugajin, Kenichi Yamaki, Natsuko Hirasawa, Takanori Kobayashi, Takeo Yagi Department of Respiratory Medicine, Ichinomiya-Nishi Hospital, Ichinomiya City, Japan Background: The credibility of prognostic indicators in nursing-home-acquired pneumonia (NHAP is not clear. We previously reported a simple prognostic indicator in community-acquired pneumonia (CAP: blood urea nitrogen to serum albumin (B/A ratio. This retrospective study investigated the prognostic value of severity indicators in NHAP versus CAP in elderly patients. Methods: Patients aged ≥65 years and hospitalized because of NHAP or CAP within the previous 3 years were enrolled. Demographics, coexisting illnesses, laboratory and microbiological findings, and severity scores (confusion, urea, respiratory rate, blood pressure, and age ≥65 [CURB-65] scale; age, dehydration, respiratory failure, orientation disturbance, and pressure [A-DROP] scale; and pneumonia severity index [PSI] were retrieved from medical records. The primary outcome was mortality within 28 days of admission. Results: In total, 138 NHAP and 307 CAP patients were enrolled. Mortality was higher in NHAP (18.1% than in CAP (4.6% (P<0.001. Patients with NHAP were older and had lower functional status and a higher rate of do-not-resuscitate orders, heart failure, and cerebrovascular diseases. The NHAP patients more frequently had typical bacterial pathogens. Using the receiver-operating characteristics curve for predicting mortality, the area under the curve in NHAP was 0.70 for the A-DROP scale, 0.69 for the CURB-65 scale, 0.67 for the PSI class, and 0.65 for the B/A ratio. The area under the curve in CAP was 0.73 for the A-DROP scale, 0.76 for the CURB-65 scale, 0.81 for the PSI class, and 0.83 for the B/A ratio. Conclusion: Patient mortality was greater in NHAP than in CAP. Patient characteristics, coexisting illnesses, and detected pathogens differed greatly between NHAP and CAP. The existing severity indicators

  11. Acquired epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Maricel Sucar Batista

    2015-12-01

    Full Text Available Epidermolysis bullosa is a group of diseases or skin disorders genetically transmitted and it is characterized by the appearance of bullae, ulcers and skin wounds. It usually appears at birth or in the first months of life. This is a case of a 72-year-old female patient who comes to the dermatology department with skin lesions of 6 months of evolution. A skin biopsy was performed, taking a sample for direct and indirect immunofluorescence. Acquired epidermolysis bullosa of unknown etiology was diagnosed. Treatment was started with low-dose colchicine to increase it later, according to the patient’s tolerance and disease progression.

  12. Mitochondrial DNA inheritance in the human fungal pathogen Cryptococcus gattii.

    Science.gov (United States)

    Wang, Zixuan; Wilson, Amanda; Xu, Jianping

    2015-02-01

    The inheritance of mitochondrial DNA (mtDNA) is predominantly uniparental in most sexual eukaryotes. In this study, we examined the mitochondrial inheritance pattern of Cryptococcus gattii, a basidiomycetous yeast responsible for the recent and ongoing outbreak of cryptococcal infections in the US Pacific Northwest and British Columbia (especially Vancouver Island) in Canada. Using molecular markers, we analyzed the inheritance of mtDNA in 14 crosses between strains within and between divergent lineages in C. gattii. Consistent with results from recent studies, our analyses identified significant variations in mtDNA inheritance patterns among strains and crosses, ranging from strictly uniparental to biparental. For two of the crosses that showed uniparental mitochondrial inheritance in standard laboratory conditions, we further investigated the effects of the following environmental variables on mtDNA inheritance: UV exposure, temperature, and treatments with the methylation inhibitor 5-aza-2'-deoxycytidine and with the ubiquitination inhibitor ammonium chloride. Interestingly, one of these crosses showed no response to these environmental variables while the other exhibited diverse patterns ranging from complete uniparental inheritance of the MATa parent mtDNA, to biparental inheritance, and to a significant bias toward inheritance of the MATα parental mtDNA. Our results indicate that mtDNA inheritance in C. gattii differs from that in its closely related species Cryptococcus neoformans. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Innate-Type and Acquired-Type Allergy Regulated by IL-33

    Directory of Open Access Journals (Sweden)

    Tomohiro Yoshimoto

    2014-01-01

    Full Text Available We propose two types of allergic response: IgE-dependent and IgE-independent, and designate these as 'acquired-type allergy' and 'innate-type allergy', respectively. IL-33 stimulates both innate (basophils, mast cells, or group 2 innate lymphoid cells and acquired (Th2 cells allergy-related cells to induce and/or augment Th2 cytokine production, which leads to eosinophilic inflammation in vivo. Thus, IL-33 is an essential regulator for both 'innate-type allergy' and 'acquired-type allergy', and might be an attractive therapeutic target for allergic diseases.

  14. Pennzoil to acquire part of Chevron's production

    International Nuclear Information System (INIS)

    Anon.

    1992-01-01

    This paper reports that Pennzoil Co., Houston, will exchange 48% of its $2.2 billion investment in Chevron Corp. for a chunk of chevron's U.S. producing leases. The trade is to involve a tax free exchange of 15.75 million chevron Corp. shares held by Pennzoil for all the stock of Chevron PBC Inc., a Chevron unit owning Gulf of Mexico, Gulf Coast, Permian basin, and other U.S. oil and gas producing leases. Sixty percent of the acquired reserves are in the Gulf of Mexico and Gulf Coast where Pennzoil's operations are concentrated, and 60% of the acquired reserves consist of natural gas, mirroring Pennzoil's reserve ratios

  15. Acquired Credit Unions: Drivers of Takeover

    Directory of Open Access Journals (Sweden)

    R. Raymond Sant

    2015-08-01

    Full Text Available In this paper we study acquired credit unions and analyze their financial performance up to six years prior to merger, on a quarterly basis. The primary focus is on balance sheet (asset liability management and profitability variables (return on assets. We find that acquired credit unions during the period 2008 (third quarter to 2014 (first quarter experienced negative return on assets for several quarters prior to their takeover. This was the result of a declining loan portfolio and increasing charge offs. In spite of decreasing lending activity, such credit unions continued to increase their deposits, i.e., adding to their cost base. Due to declining loans, their net interest margin as a proportion of deposits was also in decline. We argue that this is an indicator of poor management ability. Furthermore, our analysis finds that operating expenses were increasing over time, something that has been documented in previous literature also for smaller credit unions and is attributable to lack of economies of scale. The average asset size of the acquired credit unions in our sample is about $22 million just before acquisition. We attribute our findings to poor business strategy followed by such credit unions. We also conclude that signs of trouble are evident up to two years before merger on average and regulatory policy may have to become more proactive to manage the consolidation challenge faced by the credit union industry in general.

  16. Acquiring Customers via Word-of-Mouth Referrals : A Virtuous Strategy?

    NARCIS (Netherlands)

    Pieters, Constant; Lemmens, Aurélie

    2015-01-01

    Managers are increasingly using word-of-mouth (WOM) acquisition strategies, such as seeded WOM or referral programs, to acquire new customers. These strategies have proven successful in recruiting customers with higher margin and lower churn probability compared to customers acquired otherwise.

  17. [Community-acquired Acinetobacter pneumonia].

    Science.gov (United States)

    Bernasconi, E; Wüst, J; Speich, R; Flury, G; Krause, M

    1993-08-21

    We report the history of a 38-year-old male native of Sri Lanka admitted to the emergency ward because of chest pain and shortness of breath. On physical and radiographic examination a bilateral predominantly right-sided pneumonia was found. The patient was admitted to the medical ICU and an antibiotic regimen with amoxicillin/clavulanic acid and erythromycin was initiated. Shortly afterwards septic shock developed. The patient was intubated and received high doses of catecholamines. He died 30 hours after admission to the hospital. Cultures from sputum, tracheal aspirate and blood grew Acinetobacter baumanni. Acinetobacter is an ubiquitous gram-negative rod with coccobacillary appearance in clinical specimens, that may appear gram-positive due to poor discoloration on Gram-stain. It is a well known causative agent of nosocomial infections, particularly in intensive care units. Community-acquired pneumonias, however, are quite rare. Sporadic cases have been reported from the US, Papua-New Guinea and Australia. Interestingly, these pneumonias are fulminant and have a high mortality. Chronic obstructive lung disease, diabetes, and tobacco and alcohol consumption appear to be predisposing factors. Due to the rapid course and poor prognosis, prompt diagnosis and adequate antibiotic treatment are indicated. Antibiotics use for community-acquired pneumonias, such as amoxicillin/clavulanic acid or macrolides, are not sufficient. Appropriate antibiotics for the initial treatment of suspected Acinetobacter infections include imipenem and carboxy- and ureidopenicillins combined with an aminoglycoside.

  18. Diagnosis and Treatment of Community-Acquired Pneumonia in Children

    Directory of Open Access Journals (Sweden)

    I.A. Karymdzhanov

    2016-02-01

    The initial antibiotic therapy of community-acquired pneumonia is carried out empirically. In the treatment of severe community-acquired pneumonia in children from 2 months to 5 years, the drug of choice is amoxicillin orally. Macrolides are the drugs of choice for children aged 5 to 16 years. In severe pneumonia, drugs of choice are amoxicillin clavulanate, 2nd–4th generation cephalosporins. In general, the duration of antibiotic therapy in the community-acquired pneumonia caused by typical bacteria is 7–10 days, by atypical bacteria — 10–14 days. In the real clinical practice, the errors associated with the choice of drug, route of administration, dosage, regimen of application, length of treatment are frequent during antibacterial therapy.

  19. Idiopathic Acquired Hemophilia A with Undetectable Factor VIII Inhibitor

    Directory of Open Access Journals (Sweden)

    Nicholas B. Abt

    2014-01-01

    Full Text Available Objective. We present the case of a 73-year-old female, with no family or personal history of a bleeding disorder, who had a classic presentation for acquired hemophilia A. Factor VIII activity was low but detectable and a factor VIII inhibitor was undetectable. Methods. The patient’s plasma was comprehensively studied to determine the cause of the acquired coagulopathy. Using the Nijmegen modification of the Bethesda assay, no factor VIII autoantibody was measureable despite varying the incubation time from 1 to 3 hours. Results. The aPTT was prolonged at 46.8 seconds, which did not correct in the 4 : 1 mix but did with 1 : 1 mix. Using a one stage factor VIII activity assay, the FVIII activity was 16% and chromogenic FVIII activity was also 16%. The patient was treated with recombinant FVII and transfusion, significantly reducing bleeding. Long-term therapy was initiated with cyclophosphamide and prednisone with normalization of FVIII activity. Conclusions. Physicians can be presented with the challenging clinical picture of an acquired factor VIII inhibitor without a detectable inhibitor by the Bethesda assay. Standard therapy for an acquired hemophilia A should be considered.

  20. Patients' Hand Washing and Reducing Hospital-Acquired Infection.

    Science.gov (United States)

    Haverstick, Stacy; Goodrich, Cara; Freeman, Regi; James, Shandra; Kullar, Rajkiran; Ahrens, Melissa

    2017-06-01

    Hand hygiene is important to prevent hospital-acquired infections. Patients' hand hygiene is just as important as hospital workers' hand hygiene. Hospital-acquired infection rates remain a concern across health centers. To improve patients' hand hygiene through the promotion and use of hand washing with soap and water, hand sanitizer, or both and improve patients' education to reduce hospital-acquired infections. In August 2013, patients in a cardiothoracic postsurgical step-down unit were provided with individual bottles of hand sanitizer. Nurses and nursing technicians provided hand hygiene education to each patient. Patients completed a 6-question survey before the intervention, at hospital discharge and 1, 2, and 3 months after the intervention. Hospital-acquired infection data were tracked monthly by infection prevention staff. Significant correlations were found between hand hygiene and rates of infection with vancomycin-resistant enterococci ( P = .003) and methicillin-resistant Staphylococcus aureus ( P = .01) after the intervention. After the implementation of hand hygiene interventions, rates of both infections declined significantly and patients reported more staff offering opportunities for and encouraging hand hygiene. This quality improvement project demonstrates that increased hand hygiene compliance by patients can influence infection rates in an adult cardiothoracic step-down unit. The decreased infection rates and increased compliance with hand hygiene among the patients may be attributed to the implementation of patient education and the increased accessibility and use of hand sanitizer. ©2017 American Association of Critical-Care Nurses.

  1. Clinical role of Cefixime in community-acquired infections.

    Science.gov (United States)

    Dreshaj, Sh; Doda-Ejupi, T; Tolaj, I Q; Mustafa, A; Kabashi, S; Shala, N; Geca, Nj; Aliu, A; Daka, A; Basha, N

    2011-01-01

    Cefixime is an oral third generation cephalosporin, frequently used in respiratory tract infections (RTI) in the pediatric population. However, in some publications cefixime has demonstrated poor efficacy against staphylococci and streptococci. of this study was to evaluate the efficacy of cefixime in the treatment of community-acquired infections in a country where parenteral third generation cephalosporins have been used for a long time. The present study was designed to assess the clinical efficacy, bacteriological eradication rates and tolerability of cefixime in children with community-acquired upper RTI (URTI), lower RTI (LRTI) and uncomplicated urinary tract infections (UTI). The study was prospective, open, and included 89 patients, from 6 months to 28 years, of both sexes, with the diagnosis of community-acquired URTI, LRTI and UTI. The treatment with cefixime was successful in 30/30 (100%) patients suffering from acute otitis media (AOM), in 10/12 (83.3%) with acute sinusitis, in 12/12 patients (100%) with pneumonia, in 31/35 (88.57) with uncomplicated UTI. The antibiotic was well tolerated. In 10 days treatment we recorded one case (1.3%) with acute gastroenteritis and two cases (2.6%) of maculopapular rash. Side-effects were transient and disappeared after finishing therapy in all three of the cases. Community-acquired infections, such as AOM, LRTI and UTI, caused by susceptible pathogens, can be treated with cefixime, as a good choice for a successful clinical response.

  2. Community-Acquired Acute Kidney Injury: A Nationwide Survey in China.

    Science.gov (United States)

    Wang, Yafang; Wang, Jinwei; Su, Tao; Qu, Zhen; Zhao, Minghui; Yang, Li

    2017-05-01

    This study aimed to describe the burden of community-acquired acute kidney injury (AKI) in China based on a nationwide survey about AKI. Cross-sectional and retrospective study. A national sample of 2,223,230 hospitalized adult patients from 44 academic/local hospitals in Mainland China was used. AKI was defined according to the 2012 KDIGO AKI creatinine criteria or an increase or decrease in serum creatinine level of 50% during the hospital stay. Community-acquired AKI was identified when a patient had AKI that could be defined at hospital admission. The rate, cause, recognition, and treatment of community-acquired AKI were stratified according to hospital type, latitude, and economic development of the regions in which the patients were admitted. All-cause in-hospital mortality and recovery of kidney function at hospital discharge. 4,136 patients with community-acquired AKI were identified during the 2 single-month snapshots (January 2013 and July 2013). Of these, 2,020 (48.8%) had cases related to decreased kidney perfusion; 1,111 (26.9%), to intrinsic kidney disease; and 499 (12.1%), to urinary tract obstruction. In the north versus the south, more patients were exposed to nephrotoxins or had urinary tract obstructions. 536 (13.0%) patients with community-acquired AKI had indications for renal replacement therapy (RRT), but only 347 (64.7%) of them received RRT. Rates of timely diagnosis and appropriate use of RRT were higher in regions with higher per capita gross domestic product. All-cause in-hospital mortality was 7.3% (295 of 4,068). Delayed AKI recognition and being located in northern China were independent risk factors for in-hospital mortality, and referral to nephrology providers was an independent protective factor. Possible misclassification of AKI and community-acquired AKI due to nonstandard definitions and missing data for serum creatinine. The features of community-acquired AKI varied substantially in different regions of China and were closely

  3. Foodborne listeriosis acquired in hospitals.

    Science.gov (United States)

    Silk, Benjamin J; McCoy, Morgan H; Iwamoto, Martha; Griffin, Patricia M

    2014-08-15

    Listeriosis is characterized by bacteremia or meningitis. We searched for listeriosis case series and outbreak investigations published in English by 2013, and assessed the strength of evidence for foodborne acquisition among patients who ate hospital food. We identified 30 reports from 13 countries. Among the case series, the median proportion of cases considered to be hospital-acquired was 25% (range, 9%-67%). The median number of outbreak-related illnesses considered to be hospital-acquired was 4.0 (range, 2-16). All patients were immunosuppressed in 18 of 24 (75%) reports with available data. Eight outbreak reports with strong evidence for foodborne acquisition in a hospital implicated sandwiches (3 reports), butter, precut celery, Camembert cheese, sausage, and tuna salad (1 report each). Foodborne acquisition of listeriosis among hospitalized patients is well documented internationally. The number of listeriosis cases could be reduced substantially by establishing hospital policies for safe food preparation for immunocompromised patients and by not serving them higher-risk foods. Published by Oxford University Press on behalf of the Infectious Diseases Society of America 2014. This work is written by (a) US Government employee(s) and is in the public domain in the US.

  4. Automated surveillance system for hospital-acquired urinary tract infections in Denmark

    DEFF Research Database (Denmark)

    Condell, Orla; Gubbels, Sophie; Nielsen, J

    2016-01-01

    BACKGROUND: The Danish Hospital-Acquired Infections Database (HAIBA) is an automated surveillance system using hospital administrative, microbiological, and antibiotic medication data. AIM: To define and evaluate the case definition for hospital-acquired urinary tract infection (HA-UTI) and to de......BACKGROUND: The Danish Hospital-Acquired Infections Database (HAIBA) is an automated surveillance system using hospital administrative, microbiological, and antibiotic medication data. AIM: To define and evaluate the case definition for hospital-acquired urinary tract infection (HA-UTI......) and to describe surveillance data from 2010 to 2014. METHODS: The HA-UTI algorithm defined a laboratory-diagnosed UTI as a urine culture positive for no more than two micro-organisms with at least one at ≥10(4)cfu/mL, and a probable UTI as a negative urine culture and a relevant diagnosis code or antibiotic...... treatment. UTI was considered hospital-acquired if a urine sample was collected ≥48h after admission and UTI was calculated per 10,000 risk-days. For validation, prevalence was calculated for each day and compared to point prevalence survey (PPS) data. FINDINGS: HAIBA...

  5. How Did Light Acquire a Velocity?

    Science.gov (United States)

    Lauginie, Pierre

    2013-01-01

    We discuss how light acquired a velocity through history, from the ancient Greeks to the early modern era. Combining abstract debates, models of light, practical needs, planned research and chance, this history illustrates several key points that should be brought out in science education.

  6. Potentialities of radioisotope aniocardiography in diagnosis of acquired heart diseases

    International Nuclear Information System (INIS)

    Malov, G.A.; Mikaelyan, R.S.; Dumpe, A.N.

    1980-01-01

    On the base of the examination of 40 patients with acquired heart diseases and 5 people without heart diseases for control determined are the most charactreristic signs of the acquired heart disease of visual observation on RPP transit (albumin of human serum labelled by sup(99m)Tc) through the heart cavities and magistral vessels. It is shown that there is a close connection between central and intracardial hemodynamics which permjts to judge on the cardiac output on the base of mean circulation time (MCT). Radioisotopic angiocardiography permits to find redistribution of lung blood flow in patients with acquired heart diseases, which can serve as indirect index of long hypertension

  7. 26 CFR 1.1014-2 - Property acquired from a decedent.

    Science.gov (United States)

    2010-04-01

    ... TAX (CONTINUED) INCOME TAXES Basis Rules of General Application § 1.1014-2 Property acquired from a..., devise, or inheritance, or by the decedent's estate from the decedent, whether the property was acquired... inheritance from a decedent dying after August 26, 1937, and if such property consists of stock or securities...

  8. Acquired Aplastic Anemia in Children

    Science.gov (United States)

    Hartung, Helge D.; Olson, Timothy S.; Bessler, Monica

    2013-01-01

    SYNOPSIS This article provides a practice-based and concise review of the etiology, diagnosis, and management of acquired aplastic anemia in children. Bone marrow transplantation, immunosuppressive therapy, and supportive care are discussed in detail. The aim is to provide the clinician with a better understanding of the disease and to offer guidelines for the management of children with this uncommon yet serious disorder. PMID:24237973

  9. Rehabilitation of discourse impairments after acquired brain injury

    Directory of Open Access Journals (Sweden)

    Gigiane Gindri

    Full Text Available ABSTRACT Language impairments in patients with acquired brain injury can have a negative impact on social life as well as on other cognitive domains. Discourse impairments are among the most commonly reported communication deficits among patients with acquired brain damage. Despite advances in the development of diagnostic tools for detecting such impairments, few studies have investigated interventions to rehabilitate patients presenting with these conditions. Objective: The aim of this study was to present a systematic review of the methods used in the rehabilitation of discourse following acquired brain injury. Methods: The PubMed database was searched for articles using the following keywords: "rehabilitation", "neurological injury", "communication" and "discursive abilities". Results: A total of 162 abstracts were found, but only seven of these met criteria for inclusion in the review. Four studies involved samples of individuals with aphasia whereas three studies recruited samples of individuals with traumatic brain injury. Conclusion: All but one article found that patient performance improved following participation in a discourse rehabilitation program.

  10. The acquired hyperostosis syndrome

    International Nuclear Information System (INIS)

    Dihlmann, W.; Hering, L.; Bargon, G.W.

    1988-01-01

    Sterno-costo-clavicular hyperostosis (SCCH) is the most common manifestation of a syndrome, consisting of increased bone metabolism, mostly new bone formation and heterotopic ossification of fibrous tissue, which we have characterised as the acquired hyperostosis syndrome. In part I we discuss the terminology, radiological appearances, scintigraphy, clinical and laboratory findings, bacteriology, histology, nosology, complications, treatment and differential diagnosis of SCCH. Chronic recurrent multifocal osteomyelitis (CRMO) is regarded as a phaenotype of SCCH, depending on the age. CRMO occurs in children, adolescents and young adults, SCCH predominantly in middleaged and elderly adults. (orig.) [de

  11. Acquired dysfibrinogenemia secondary to multiple myeloma

    Czech Academy of Sciences Publication Activity Database

    Kotlín, R.; Sobotková, A.; Riedel, Tomáš; Salaj, P.; Suttnar, J.; Reicheltová, Z.; Májek, P.; Khaznadar, T.; Dyr, J. E.

    2008-01-01

    Roč. 120, č. 2 (2008), s. 75-81 ISSN 0001-5792 R&D Projects: GA AV ČR KAN200670701 Institutional research plan: CEZ:AV0Z40500505 Keywords : acquired dysfibrinogenemia * amorphous clot * fibrinogen Subject RIV: CD - Macromolecular Chemistry Impact factor: 1.191, year: 2008

  12. Acquired portosystemic collaterals: anatomy and imaging

    Energy Technology Data Exchange (ETDEWEB)

    Leite, Andrea Farias de Melo; Mota Junior, Americo, E-mail: andreafariasm@gmail.com [Instituto de Medicina Integral Professor Fernando Figueira de Pernambuco (IMIP), Recife, PE (Brazil); Chagas-Neto, Francisco Abaete [Universidade de Fortaleza (UNIFOR), Fortaleza, CE (Brazil); Teixeira, Sara Reis; Elias Junior, Jorge; Muglia, Valdair Francisco [Universidade de Sao Paulo (FMRP/USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina

    2016-07-15

    Portosystemic shunts are enlarged vessels that form collateral pathological pathways between the splanchnic circulation and the systemic circulation. Although their causes are multifactorial, portosystemic shunts all have one mechanism in common - increased portal venous pressure, which diverts the blood flow from the gastrointestinal tract to the systemic circulation. Congenital and acquired collateral pathways have both been described in the literature. The aim of this pictorial essay was to discuss the distinct anatomic and imaging features of portosystemic shunts, as well as to provide a robust method of differentiating between acquired portosystemic shunts and similar pathologies, through the use of illustrations and schematic drawings. Imaging of portosystemic shunts provides subclinical markers of increased portal venous pressure. Therefore, radiologists play a crucial role in the identification of portosystemic shunts. Early detection of portosystemic shunts can allow ample time to perform endovascular shunt operations, which can relieve portal hypertension and prevent acute or chronic complications in at-risk patient populations. (author)

  13. Acquired portosystemic collaterals: anatomy and imaging

    International Nuclear Information System (INIS)

    Leite, Andrea Farias de Melo; Mota Junior, Americo; Chagas-Neto, Francisco Abaete; Teixeira, Sara Reis; Elias Junior, Jorge; Muglia, Valdair Francisco

    2016-01-01

    Portosystemic shunts are enlarged vessels that form collateral pathological pathways between the splanchnic circulation and the systemic circulation. Although their causes are multifactorial, portosystemic shunts all have one mechanism in common - increased portal venous pressure, which diverts the blood flow from the gastrointestinal tract to the systemic circulation. Congenital and acquired collateral pathways have both been described in the literature. The aim of this pictorial essay was to discuss the distinct anatomic and imaging features of portosystemic shunts, as well as to provide a robust method of differentiating between acquired portosystemic shunts and similar pathologies, through the use of illustrations and schematic drawings. Imaging of portosystemic shunts provides subclinical markers of increased portal venous pressure. Therefore, radiologists play a crucial role in the identification of portosystemic shunts. Early detection of portosystemic shunts can allow ample time to perform endovascular shunt operations, which can relieve portal hypertension and prevent acute or chronic complications in at-risk patient populations. (author)

  14. Surveillance for hospital-acquired infections on surgical wards in a Dutch university hospital

    NARCIS (Netherlands)

    Kamp-Hopmans, Titia E. M.; Blok, Hetty E. M.; Troelstra, Annet; Gigengack-Baars, Ada C. M.; Weersink, Annemarie J. L.; Vandenbroucke-Grauls, Christina M. J. E.; Verhoef, Jan; Mascini, Ellen M.

    2003-01-01

    OBJECTIVES: To determine incidence rates of hospital-acquired infections and to develop preventive measures to reduce the risk of hospital-acquired infections. METHODS: Prospective surveillance for hospital-acquired infections was performed during a 5-year period in the wards housing general and

  15. Tuberculosis and the acquired immune deficiency syndrome in South Brazil

    International Nuclear Information System (INIS)

    Vieira, M.V.; Genro, C.H.; Santos Silveira, R. de C. dos

    1989-01-01

    Tuberculosis and the acquired immune deficiency syndrome in South Brazil. The authors studied the incidence of tuberculosis in South Brazilian patients with acquired immune deficiency syndrome from January 1985 to June 1988. During this period, tuberculosis occurred in 10.3% of acquired immune deficiency syndrome patients. The socioeconomic conditions and the incidence of disease in the population were not confirmed as a potential risk for tuberculosis infection. Chest radiographs revealed pulmonary infiltrates in six patients, hilar and/or mediastinal adenopathy in three, and pleural effusion in two. The two remaining patients had pulmonary consolidation associated with other features. None of these patients presented pulmonary cavitation or radiographic findings of typical reactivation of pulmonary tuberculosis. (author) [pt

  16. Processes Adopted to Integrate Intangible Resources in Global Acquisitions among Container Lines: Perceptions of Acquirer and Acquired

    Directory of Open Access Journals (Sweden)

    Indika Sigera

    2018-03-01

    Full Text Available The spectrum of strategic co-operations among container lines varies from loose-knitted slot charters, liner conferences, shipping alliances, joint services and consortia, through to mergers and acquisitions (M&As. However, these forms of strategic co-operations have not always been able to achieve the intended synergetic growth resulting from the integration of resources. The Resource Based View (RBV suggests that integrating intangible resources, which are valuable, rare, inimitable and non-substitutable (VRIN, can make a significant contribution to the performance of post strategic co-operations. This research paper investigates the contribution of intangible resources to the post acquisition success six global acquisitions among container lines. The nine senior managers attached to global container lines were the main participants of this study. Five of them represented acquired container lines, four represented acquirer container lines. The paper explains their personnel experience on the processes adopts to integrate intangible resources in acquisitions. Keywords: Merger and Acquisitions, Intangible Resources, Container Lines, Task Integration, Human Integration

  17. Musicality: instinct or acquired skill?

    Science.gov (United States)

    Marcus, Gary F

    2012-10-01

    Is the human tendency toward musicality better thought of as the product of a specific, evolved instinct or an acquired skill? Developmental and evolutionary arguments are considered, along with issues of domain-specificity. The article also considers the question of why humans might be consistently and intensely drawn to music if musicality is not in fact the product of a specifically evolved instinct. Copyright © 2012 Cognitive Science Society, Inc.

  18. Value-based purchasing and hospital acquired conditions: are we seeing improvement?

    Science.gov (United States)

    Spaulding, Aaron; Zhao, Mei; Haley, D Rob

    2014-12-01

    To determine if the Value-Based Purchasing Performance Scoring system correlates with hospital acquired condition quality indicators. This study utilizes the following secondary data sources: the American Hospital Association (AHA) annual survey and the Centers for Medicare and Medicaid (CMS) Value-Based Purchasing and Hospital Acquired Conditions databases. Zero-inflated negative binomial regression was used to examine the effect of CMS total performance score on counts of hospital acquired conditions. Hospital structure variables including size, ownership, teaching status, payer mix, case mix, and location were utilized as control variables. The secondary data sources were merged into a single database using Stata 10. Total performance scores, which are used to determine if hospitals should receive incentive money, do not correlate well with quality outcome in the form of hospital acquired conditions. Value-based purchasing does not appear to correlate with improved quality and patient safety as indicated by Hospital Acquired Condition (HAC) scores. This leads us to believe that either the total performance score does not measure what it should, or the quality outcome measurements do not reflect the quality of the total performance scores measure. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  19. A rare case of acquired lymphangioma circumscriptum of the penis.

    Science.gov (United States)

    Adikari, S; Philippidou, M; Samuel, M

    2017-02-01

    Acquired lymphangioma circumscriptum is a rare occurrence on the penis. We report a case of a 47-year-old man who presented with a single lesion of acquired lymphangioma circumscriptum on the penis resembling genital warts. We report the case to increase awareness of this rare condition which may mimic sexually transmitted infections such as genital warts.

  20. Rocky Mountain spotted fever acquired in Florida, 1973-83.

    Science.gov (United States)

    Sacks, J J; Janowski, H T

    1985-01-01

    From 1973 to 1983, 49 Florida residents were reported with confirmed Rocky Mountain spotted fever (RMSF), 25 of whom were considered to have had Florida-acquired disease. Although there was no history of tick exposure for six of these 25 persons, all had contact with dogs or outdoor activities during the incubation period. The tick vectors of RMSF are widely distributed throughout Florida. We conclude that RMSF, although rare in Florida, can be acquired in the state. PMID:4061716

  1. Management of Acquired Atresia of the External Auditory Canal.

    Science.gov (United States)

    Bajin, Münir Demir; Yılmaz, Taner; Günaydın, Rıza Önder; Kuşçu, Oğuz; Sözen, Tevfik; Jafarov, Shamkal

    2015-08-01

    The aim was to evaluate surgical techniques and their relationship to postoperative success rate and hearing outcomes in acquired atresia of the external auditory canal. In this article, 24 patients with acquired atresia of the external auditory canal were retrospectively evaluated regarding their canal status, hearing, and postoperative success. Acquired stenosis occurs more commonly in males with a male: female ratio of 2-3:1; it seems to be a disorder affecting young adults. Previous ear surgery (13 patients, 54.2%) and external ear trauma (11 patients, 45.8%) were the main etiological factors of acquired ear canal stenosis. Mastoidectomy (12/13) and traffic accidents (8/11) comprise the majority of these etiological factors. Endaural incision is performed in 79.2% and postauricular incision for 20.8% of cases during the operation. As types of surgical approach, transcanal (70.8%), transmastoid (20.8%), and combined (8.4%) approaches are chosen. The atretic plate is generally located at the bony-cartilaginous junction (37.5%) and in the cartilaginous canal (33.3%); the bony canal is involved in a few cases only. Preserved healthy canal skin, split- or full-thickness skin grafts, or pre- or postauricular skin flaps are used to line the ear canal, but preserved healthy canal skin is preferred. The results of surgery are generally satisfactory, and complications are few if surgical principles are followed.

  2. Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy.

    Science.gov (United States)

    Gregory, James M; Arkader, Alexandre; Bokhari, Aqiba; Bothari, Aqiba; Dormans, John P

    2010-05-01

    We report the case of a 13-year-old boy with bilateral distal femoral unicameral bone cysts (UBCs) associated with acquired generalized lipodystrophy. As opposed to congenital generalized lipodystrophy, cystic bone lesions in acquired generalized lipodystrophy are rare. After radiographic and histologic confirmation of the UBCs, we performed percutaneous intramedullary decompression, curettage, and grafting. UBCs can be an important manifestation of acquired generalized lipodystrophy. Cystic bone lesions appear to be less common in acquired generalized lipodystrophy than in congenital generalized lipodystrophy, and intramedullary adipose tissue loss may be a predisposing factor for the development of bone lesions in patients with acquired generalized lipodystrophy. When evaluating a patient with lipodystrophy, doctors should recognize the clinical course may include the development of UBCs.

  3. [Acquired disorders of color vision].

    Science.gov (United States)

    Lascu, Lidia; Balaş, Mihaela

    2002-01-01

    This article is a general view of acquired disorders of color vision. The revision of the best known methods and of the etiopathogenic classification is not very important in ophthalmology but on the other hand, the detection of the blue defect advertise and associated ocular pathology. There is a major interest in serious diseases as multiple sclerosis, AIDS, diabetes melitus, when the first ocular sign can be a defect in the color vision.

  4. Universal acquired melanosis (Carbon baby

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2008-01-01

    Full Text Available We report a 3-year-old girl born with fair complexion which became darker. The color change was insidious in onset at the age of 5 months, asymptomatic and progressive involving the entire body surface. Histopathology revealed increased pigmentation of the epidermal basal layer. Universal acquired melanosis is a rare form of hypermelanosis which was synonymously referred to as "Carbon baby". This is a rare presentation with only one earlier case report.

  5. Community-acquired pneumonia in older patients: does age influence systemic cytokine levels in community-acquired pneumonia?

    LENUS (Irish Health Repository)

    Kelly, Emer

    2009-03-01

    Community-acquired pneumonia (CAP) is a major cause of death in the elderly. The age-related increase in comorbid illnesses plays a part but the effect of aging on the immune response may be equally important. We aimed to evaluate patients with CAP for evidence of a muted response to infection in elderly patients admitted to hospital compared with a younger patient group.

  6. Severe recurrent achalasia cardia responding to treatment of severe autoimmune acquired haemophilia

    OpenAIRE

    Al-Jafar, H; Laffan, M; Al-Sabah, S; Elmorsi, M; Habeeb, M; Alnajar, F

    2012-01-01

    Acquired haemophilia A and severe acquired achalasia are both very rare conditions with unknown aetiology. Haemophilia A is a haemorrhagic disease induced by deficiency or malfunction of coagulation factor VIII. Congenital haemophilia is an inherited disease transmitted by the mother through X-linked inheritance and primarily affects males. However, acquired haemophilia A is a serious, sudden-onset, autoimmune disease that affects either sex. In addition, achalasia is a disease of the oesopha...

  7. Origins and consequences of technology acquirement by independent-living seniors: towards an integrative model.

    Science.gov (United States)

    Peek, S T M; Luijkx, K G; Vrijhoef, H J M; Nieboer, M E; Aarts, S; van der Voort, C S; Rijnaard, M D; Wouters, E J M

    2017-08-22

    Living independently can be challenging for seniors. Technologies are expected to help older adults age in place, yet little empirical research is available on how seniors develop a need for technologies, how they acquire these technologies, and how these subsequently affect their lives. Aging is complex, dynamic and personal. But how does this translate to seniors' adoption and acceptance of technology? To better understand origins and consequences of technology acquirement by independent-living seniors, an explorative longitudinal qualitative field study was set up. Home visits were made to 33 community-dwelling seniors living in the Netherlands, on three occasions (2012-2014). Semi-structured interviews were conducted on the timeline of acquirements, and people and factors involved in acquirements. Additionally, participants were interviewed on experiences in using technologies since acquirement. Thematic analysis was employed to analyze interview transcripts, using a realist approach to better understand the contexts, mechanisms and outcomes of technology acquirements. Findings were accumulated in a new conceptual model: The Cycle of Technology Acquirement by Independent-Living Seniors (C-TAILS), which provides an integrative perspective on why and how technologies are acquired, and why these may or may not prove to be appropriate and effective, considering an independent-living senior's needs and circumstances at a given point in time. We found that externally driven and purely desire-driven acquirements led to a higher risk of suboptimal use and low levels of need satisfaction. Technology acquirement by independent-living seniors may be best characterized as a heterogeneous process with many different origins, pathways and consequences. Furthermore, technologies that are acquired in ways that are not congruent with seniors' personal needs and circumstances run a higher risk of proving to be ineffective or inappropriate. Yet, these needs and circumstances are

  8. Functionality predictors in acquired brain damage.

    Science.gov (United States)

    Huertas Hoyas, E; Pedrero Pérez, E J; Águila Maturana, A M; García López-Alberca, S; González Alted, C

    2015-01-01

    Most individuals who have survived an acquired brain injury present consequences affecting the sensorimotor, cognitive, affective or behavioural components. These deficits affect the proper performance of daily living activities. The aim of this study is to identify functional differences between individuals with unilateral acquired brain injury using functional independence, capacity, and performance of daily activities. Descriptive cross-sectional design with a sample of 58 people, with right-sided injury (n=14 TBI; n=15 stroke) or left-sided injury (n = 14 TBI, n = 15 stroke), right handed, and with a mean age of 47 years and time since onset of 4 ± 3.65 years. The functional assessment/functional independence measure (FIM/FAM) and the International Classification of Functioning (ICF) were used for the study. The data showed significant differences (P<.000), and a large size effect (dr=0.78) in the cross-sectional estimates, and point to fewer restrictions for patients with a lesion on their right side. The major differences were in the variables 'speaking' and 'receiving spoken messages' (ICF variables), and 'Expression', 'Writing' and 'intelligible speech' (FIM/FAM variables). In the linear regression analysis, the results showed that only 4 FIM/FAM variables, taken together, predict 44% of the ICF variance, which measures the ability of the individual, and up to 52% of the ICF, which measures the individual's performance. Gait alone predicts a 28% of the variance. It seems that individuals with acquired brain injury in the left hemisphere display important differences regarding functional and communication variables. The motor aspects are an important prognostic factor in functional rehabilitation. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  9. The estimated lifetime probability of acquiring human papillomavirus in the United States.

    Science.gov (United States)

    Chesson, Harrell W; Dunne, Eileen F; Hariri, Susan; Markowitz, Lauri E

    2014-11-01

    Estimates of the lifetime probability of acquiring human papillomavirus (HPV) can help to quantify HPV incidence, illustrate how common HPV infection is, and highlight the importance of HPV vaccination. We developed a simple model, based primarily on the distribution of lifetime numbers of sex partners across the population and the per-partnership probability of acquiring HPV, to estimate the lifetime probability of acquiring HPV in the United States in the time frame before HPV vaccine availability. We estimated the average lifetime probability of acquiring HPV among those with at least 1 opposite sex partner to be 84.6% (range, 53.6%-95.0%) for women and 91.3% (range, 69.5%-97.7%) for men. Under base case assumptions, more than 80% of women and men acquire HPV by age 45 years. Our results are consistent with estimates in the existing literature suggesting a high lifetime probability of HPV acquisition and are supported by cohort studies showing high cumulative HPV incidence over a relatively short period, such as 3 to 5 years.

  10. Differential Protein Expression in Congenital and Acquired Cholesteatomas.

    Directory of Open Access Journals (Sweden)

    Seung-Ho Shin

    Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

  11. Microsoft Acquired Nokia in Unipolar Operating System Market

    Directory of Open Access Journals (Sweden)

    Netra Pal Singh

    2014-09-01

    Full Text Available The recent big tickets include Microsoft acquiring part of Nokia for US$ 7.2 billion, Verizon buy 45% stake in Vodafone for US$130 billion, Google acquiring Motorola for 12.5 billion. These buyouts are analyzed and commented by experts of the industry. This research paper attempted to collate their view in the context of Microsoft and Nokia deal on six parameters. These parameters are (i reasons for the downfall of the Nokia market share, (ii general comments of the experts, (iii similarities / dissimilarities of past and business models of the smartphone business, (iv reasons for Microsoft to buy out Nokia, (vi impact of buyout on Microsoft, Nokia, consumers and markets.

  12. Acquired pathology of the pediatric spine and spinal cord

    International Nuclear Information System (INIS)

    Palasis, Susan; Hayes, Laura L.

    2015-01-01

    Pediatric spine pathology poses a diagnostic challenge for radiologists. Acquired spine pathology often yields nonspecific signs and symptoms in children, especially in the younger age groups, and diagnostic delay can carry significant morbidity. This review is focused on some of the more common diagnostic dilemmas we face when attempting to evaluate and diagnose acquired pediatric spine anomalies in daily practice. An understanding of some of the key differentiating features of these disease processes in conjunction with pertinent history, physical exam, and advanced imaging techniques can indicate the correct diagnosis. (orig.)

  13. Acquired pathology of the pediatric spine and spinal cord

    Energy Technology Data Exchange (ETDEWEB)

    Palasis, Susan; Hayes, Laura L. [Children' s Healthcare of Atlanta, Department of Radiology at Scottish Rite, Atlanta, GA (United States)

    2015-09-15

    Pediatric spine pathology poses a diagnostic challenge for radiologists. Acquired spine pathology often yields nonspecific signs and symptoms in children, especially in the younger age groups, and diagnostic delay can carry significant morbidity. This review is focused on some of the more common diagnostic dilemmas we face when attempting to evaluate and diagnose acquired pediatric spine anomalies in daily practice. An understanding of some of the key differentiating features of these disease processes in conjunction with pertinent history, physical exam, and advanced imaging techniques can indicate the correct diagnosis. (orig.)

  14. Acquired Duodenal Obstruction in Children

    Directory of Open Access Journals (Sweden)

    Jen-Hung Chien

    2008-10-01

    Full Text Available Traumatic intramural hematoma of the duodenum is a rare cause of acquired duodenal obstruction in children, and a high degree of suspicion is therefore required to make an early and accurate diagnosis. We report a 6-year-old boy whose epigastrium was impacted by the handlebar of his bicycle during a traffic accident. The boy then experienced epigastralgia. Six days later, progressive bilious vomiting suggestive of gastrointestinal obstruction was noted. Imaging studies revealed a large hematoma extending from the fourth portion of the duodenum to the jejunum. Conservative methods of treatment failed to manage his condition. He underwent laparoscopic surgery to evacuate the hematoma. We also report a case of duodenal obstruction in a previously healthy 2-year-old girl who presented for the first time with acute symptoms of proximal intestinal obstruction. Contrast examinations showed apparent barium retention over the stomach and proximal duodenum. She underwent surgery due to persistent obstruction, and a mushroom-like foreign body was detected embedded in the orifice of the windsock duodenal web. After duodenoduodenostomy and removal of the bezoar, she had a smooth recovery and tolerated feeding well. We conclude that blunt abdominal trauma and incomplete duodenal obstruction, such as that caused by duodenal web, should be considered as possible causes of acquired proximal gastrointestinal obstruction in previously healthy children, despite their rarity.

  15. Method to acquire regions of fruit, branch and leaf from image of red apple in orchard

    Science.gov (United States)

    Lv, Jidong; Xu, Liming

    2017-07-01

    This work proposed a method to acquire regions of fruit, branch and leaf from red apple image in orchard. To acquire fruit image, R-G image was extracted from the RGB image for corrosive working, hole filling, subregion removal, expansive working and opening operation in order. Finally, fruit image was acquired by threshold segmentation. To acquire leaf image, fruit image was subtracted from RGB image before extracting 2G-R-B image. Then, leaf image was acquired by subregion removal and threshold segmentation. To acquire branch image, dynamic threshold segmentation was conducted in the R-G image. Then, the segmented image was added to fruit image to acquire adding fruit image which was subtracted from RGB image with leaf image. Finally, branch image was acquired by opening operation, subregion removal and threshold segmentation after extracting the R-G image from the subtracting image. Compared with previous methods, more complete image of fruit, leaf and branch can be acquired from red apple image with this method.

  16. Reversible chronic acquired complete atrioventricular block.

    Science.gov (United States)

    Rakovec, P; Milcinski, G; Voga, G; Korsic, L

    1982-01-01

    The return of atrioventricular conduction is reported in a case after nearly four years of complete acquired heart block. After recovery from atrioventricular block, right bundle branch block persisted, but P-R interval and H-V interval were normal. Three months later a relapse of second degree infranodal atrioventricular block was noted. A short review of similar cases from the literature is given.

  17. Anticipatory parental care: acquiring resources for offspring prior to conception.

    OpenAIRE

    Boutin, S; Larsen, K W; Berteaux, D

    2000-01-01

    Many organisms acquire and defend resources outside the breeding season and this is thought to be for immediate survival and reproductive benefits. Female red squirrels (Tamiasciurus hudsonicus) acquire traditional food cache sites up to four months prior to the presence of any physiological or behavioural cues associated with mating or offspring dependency. They subsequently relinquish these resources to one of their offspring at independence (ten months later). We experimentally show that a...

  18. Frequency of hospital acquired hyponatremia in a pediatric tertiary care setting

    International Nuclear Information System (INIS)

    Bibi, S.; Haq, A.U.; Billo, A.G.; Bibi, S.; Gilani, S.Y.H.; Shah, S.R.A.

    2015-01-01

    Background: Hyponatremia is the most commonly encountered electrolyte disorder in children. In our country the epidemiology of hospital acquired hyponatremia has hardly ever been explored whereas the administration of hypotonic IV fluids is widely practiced here. Therefore we pioneered to conduct this study to determine the frequency of hospital acquired hyponatremia. Method: This was a cross sectional study carried out at Aga Khan University Hospital, Karachi in paediatric ward and ICU over a period of 12 months. All children (>1 month and <15 years of age) admitted in paediatric units and on maintenance IV fluids who had serum sodium level measured on admission were included in the study and followed to identify patients who had a drop in serum sodium during hospitalization. Informed consent was taken from parents and collected data was recorded on a proforma. Results: A total of 865 patients were enrolled in the study. Hyponatremia was recorded in 405 patients on admission (46.8 percentage) while hospital acquired hyponatremia was documented in 240. children (27.7 percentage). Out of these 142 (59.2 percentage) were male and 98 (40.8 percentage) were female. Mean age of children in hospital acquired hyponatremia group was 60.67 months. Severity of hospital acquired hyponatremia was recorded as mild in 191 (79.6 percentage), moderate in 35 (14.6 percentage) and severe in 14 (5.8) children. Major disease categories included gastrointestinal disorder (30.4 percentage), respiratory illness (12.5 percentage), oncological disease (16.3 percentage), cardiovascular disease (11.7 percentage), infectious disease (9.2 percentage) and neurological illness (8.3 percentage). Conclusion: Hospital acquired hyponatremia is frequently encountered in our hospitalized children with majority of them receiving hypotonic IV solutions. (author)

  19. Use of CD25 as an immunohistochemical marker for acquired ocular toxoplasmosis

    Directory of Open Access Journals (Sweden)

    Cristina Miyamoto

    2010-10-01

    Full Text Available PURPOSE: Toxoplasmosis is the most common cause of posterior infectious uveitis worldwide. It is often impossible to determine its congenital or acquired nature. Interleukin-2 (IL-2 in peripheral blood has been described as a possible marker for acquired toxoplasmosis. The purpose of this study is to evaluate the histopathological characteristics of ocular toxoplasmosis cases using CD25 as a marker for the expression of interleukin-2. METHODS: Ten formalin-fixed, paraffin-embedded enucleated globes from ten immunocompetent patients with clinical diagnosis of toxoplasmosis were evaluated. Four patients had the acquired form of ocular toxoplasmosis (positive IgM while six were IgM negative and IgG positive for toxoplasmosis. Histopathological slides were reviewed for the extension of the retinal necrosis, number of toxo cysts, the granulomatous inflammatory reaction, the presence of T and B cells within the choroid and the IL-2 expression. Immunohistochemistry using monoclonal antibodies was performed to observe the expression of CD4, CD8, CD20, CD25, and CD68. RESULTS: The histopathological evaluation disclosed no differences between acquired and the other ocular toxoplasmosis cases regarding the characteristics studied. However, CD25 showed a higher expression of IL-2 on the 4 acquired cases of ocular toxoplasmosis compared to the remainders. CONCLUSIONS: To the best of our knowledge, this is the first report showing that the use of CD25 as a marker for interleukin-2 could differentiate acquired ocular toxoplasmosis.

  20. AKT-mediated enhanced aerobic glycolysis causes acquired radioresistance by human tumor cells

    International Nuclear Information System (INIS)

    Shimura, Tsutomu; Noma, Naoto; Sano, Yui; Ochiai, Yasushi; Oikawa, Toshiyuki; Fukumoto, Manabu; Kunugita, Naoki

    2014-01-01

    Background and purpose: Cellular radioresistance is a major impediment to effective radiotherapy. Here, we demonstrated that long-term exposure to fractionated radiation conferred acquired radioresistance to tumor cells due to AKT-mediated enhanced aerobic glycolysis. Material and methods: Two human tumor cell lines with acquired radioresistance were established by long-term exposure to fractionated radiation with 0.5 Gy of X-rays. Glucose uptake was inhibited using 2-deoxy-D-glucose, a non-metabolizable glucose analog. Aerobic glycolysis was assessed by measuring lactate concentrations. Cells were then used for assays of ROS generation, survival, and cell death as assessed by annexin V staining. Results: Enhanced aerobic glycolysis was shown by increased glucose transporter Glut1 expression and a high lactate production rate in acquired radioresistant cells compared with parental cells. Inhibiting the AKT pathway using the AKT inhibitor API-2 abrogated these phenomena. Moreover, we found that inhibiting glycolysis with 2-deoxy-D-glucose suppressed acquired tumor cell radioresistance. Conclusions: Long-term fractionated radiation confers acquired radioresistance to tumor cells by AKT-mediated alterations in their glucose metabolic pathway. Thus, tumor cell metabolic pathway is an attractive target to eliminate radioresistant cells and improve radiotherapy efficacy

  1. Structural characterization and lipid composition of acquired cholesteatoma

    DEFF Research Database (Denmark)

    Bloksgaard, Maria; Svane-Knudsen, Viggo; Sørensen, Jens A

    2012-01-01

    HYPOTHESIS: The goal of this work is to characterize the morphology and lipid composition of acquired cholesteatoma. We hypothesize that constitutive lipid membranes are present in the cholesteatoma and resemble those found in human skin stratum corneum. METHODS: We performed a comparative...... noninvasive structural and lipid compositional study of acquired cholesteatoma and control human skin using multiphoton excitation fluorescence microscopy-related techniques and high-performance thin-layer chromatography. RESULTS: The structural arrangement of the cholesteatoma is morphologically invariant...... along a depth of more than 200 μm and resembles the stratum corneum of hyperorthokeratotic skin. Lipid compositional analyses of the cholesteatoma show the presence of all major lipid classes found in normal skin stratum corneum (ceramides, long chain fatty acids, and cholesterol). Consistent with this...

  2. Community-acquired Pneumonia in Hospitalized Urban Young ...

    African Journals Online (AJOL)

    As part of a comprehensive hospital-based study of acute lower respiratory infections (ALRI) in under-five urban Nigerian children, we sought to identify the possible clinical and investigative correlates of lobar versus bronchopneumonia, and the possible determinants of mortality in community-acquired pneumonia. Over a ...

  3. Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.

    Science.gov (United States)

    Cameron, F; Xu, J; Jung, J; Prasad, C

    2013-11-01

    Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies. Puce d'hybridation génomique comparative et retard de développement : un outil diagnostic pour les neurologues. Le retard de développement survient chez 1 à 3% de la population et son étiologie est inconnue chez à peu près 50% des cas. L'évaluation génétique initiale pour un retard de développement incluait antérieurement une analyse chromosomique et une analyse par FISH (hybridation in situ en fluorescence) de régions subtélomériques. La puce d'hybridation génomique comparative (CGHa) est devenue un outil de détection des changements du nombre de copies géniques ainsi que de la disomie uniparentale et elle est le test le plus sensible pour fournir un diagnostic étiologique dans le retard de développement. Le CGHa permet d'offrir un pronostic et un risque de récurrence, améliore l'accès aux ressources, aide à limiter les évaluations et peut modifier le traitement médical dans bien des cas

  4. National Automated Surveillance of Hospital-Acquired Bacteremia in Denmark Using a Computer Algorithm

    DEFF Research Database (Denmark)

    Gubbels, Sophie; Nielsen, Jens; Voldstedlund, Marianne

    2017-01-01

    BACKGROUND In 2015, Denmark launched an automated surveillance system for hospital-acquired infections, the Hospital-Acquired Infections Database (HAIBA). OBJECTIVE To describe the algorithm used in HAIBA, to determine its concordance with point prevalence surveys (PPSs), and to present trends...... advantages of automated surveillance, HAIBA allows monitoring of HA bacteremia across the healthcare system, supports prioritizing preventive measures, and holds promise for evaluating interventions. Infect Control Hosp Epidemiol 2017;1-8....... for hospital-acquired bacteremia SETTING Private and public hospitals in Denmark METHODS A hospital-acquired bacteremia case was defined as at least 1 positive blood culture with at least 1 pathogen (bacterium or fungus) taken between 48 hours after admission and 48 hours after discharge, using the Danish...

  5. Prognostic value of lactate clearance in severe community acquired pneumonia

    OpenAIRE

    Mohamed, Kamel Abd Elaziz; Ahmed, Dief Abd Elgalil

    2014-01-01

    Introduction: Severe community acquired pneumonia (SCAP) occurs in approximately 18–36% of all CAP and the mortality rate could be as high as 67% in patients with SCAP. Several studies have described a correlation between baseline lactate concentration and mortality of ICU patients. Aim of the work: To follow lactate clearance after admission for 24 h which could be an indicator of outcome in severe community acquired pneumonia. Patients and methods: Forty-six consecutively admitted adu...

  6. Community-Acquired Pneumonia: a Comparison between elderly and nonelderly patients

    Directory of Open Access Journals (Sweden)

    S. Jafari

    2006-08-01

    Full Text Available Background: Community-acquired pneumonia could be a life-threatening condition especially in elderly patients. The factors influencing the outcome in elderly patients are thought to be different from those in young adults. We compared the clinical and paraclinical profiles in elderly and nonelderly patients with community-acquired pneumonias. Methods: In this cross-sectional study, seventy nine patients who were hospitalized with community acquired pneumonia over a period of one year were included. Patients' medical records were reviewed; and data related to comorbid conditions, signs and symptoms, laboratory and radiographic findings were gathered using a checklist. Results: The clinical features, laboratory parameters and complications from pneumonia were almost similar in 41 elderly (group I, age ≥65years and 38 young (group II, age<65years subjects. Delirium was seen more in elderly group (p=0.05. The average body temperature and pulse rate were significantly higher in nonelderly group. Sixty one percent of elderly patients and 21% of young patients have Po2 less than 60 (p=0.02. Smoking (29.1%, neurological disturbances (19%, congestive heart failure (15.2%, chronic obstructive pulmonary disease and diabetes mellitus (13.9% were associated comorbidities in both groups. In non elderly group, immune compromise and IV drug use were more common as underlying comorbid conditions. Two of three mortalities were due to elder patients. Conclusion: Community acquired pneumonia could have more serious clinical and abnormal laboratory features in the elderly than younger patients. Mortality rate may be higher in older patients. Comorbid conditions are frequently seen in both elderly and nonelderly patients with community acquired pneumonia, but IV drug use and immune compromise are more frequent in nonelderly patients.

  7. Hospital-acquired Klebsiella pneumoniae infections in a paediatric ...

    African Journals Online (AJOL)

    is an important preventable cause of increased ... between July 2003 and December 2010, who developed a hospital-acquired Klebsiella pneumoniae infection, was undertaken to describe the trend in ..... Bacterial nosocomial pneumonia in.

  8. The Impact of Hospital-Acquired Conditions on Medicare..

    Data.gov (United States)

    U.S. Department of Health & Human Services — According to findings reported in The Impact of Hospital-Acquired Conditions on Medicare Program Payments, published in Volume 4, Issue 4 of the Medicare and...

  9. The role of disability self-concept in adaptation to congenital or acquired disability.

    Science.gov (United States)

    Bogart, Kathleen R

    2014-02-01

    Current theories of adaptation to disability do not address differences in adaptation to congenital or acquired disability. Although people with congenital disabilities are generally assumed to be better adapted than people with acquired disabilities, few studies have tested this, and even fewer have attempted to explain the mechanisms behind these differences. This study tested the proposition that whether a disability is congenital or acquired plays an important role in the development of the disability self-concept (consisting of disability identity and disability self-efficacy), which in turn, affects satisfaction with life. It was predicted that disability self-concept would be better developed among people with congenital, compared with acquired disabilities, predicting greater satisfaction with life in those with acquired conditions. 226 participants with congenital and acquired mobility disabilities completed a cross-sectional online questionnaire measuring satisfaction with life, self-esteem, disability identity, disability self-efficacy, and demographic information. Self-esteem, disability identity, disability self-efficacy, and income were significant predictors of satisfaction with life. Congenital onset predicted higher satisfaction with life; disability identity and disability self-efficacy, but not self-esteem, partially mediated the relationship. Findings highlight the distinction between adaptation to congenital versus acquired disability and the importance of disability self-concept, which are underresearched constructs. Results suggest that rather than attempting to "normalize" individuals with disabilities, health care professionals should foster their disability self-concept. Possible ways to improve disability self-concept are discussed, such as involvement in the disability community and disability pride. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  10. Some Characteristics of Patients with Community Acquired ...

    African Journals Online (AJOL)

    There is a dearth of studies relating the information from the history of patients with community-acquired pneumonia to the mortality of the disease. The relationship between age, sex, occupation, marital status, smoking history, alcohol use, concomitant COPD / bronchial asthma, source of referral and the mortality of patients ...

  11. Constitutional and acquired autosomal aneuploidy.

    Science.gov (United States)

    Jackson-Cook, Colleen

    2011-12-01

    Chromosomal imbalances can result from numerical or structural anomalies. Numerical chromosomal abnormalities are often referred to as aneuploid conditions. This article focuses on the occurrence of constitutional and acquired autosomal aneuploidy in humans. Topics covered include frequency, mosaicism, phenotypic findings, and etiology. The article concludes with a consideration of anticipated advances that might allow for the development of screening tests and/or lead to improvements in our understanding and management of the role that aneuploidy plays in the aging process and acquisition of age-related and constitutional conditions.

  12. Antibiotic resistance in community-acquired urinary tract infections

    African Journals Online (AJOL)

    of community-acquired UTI organisms to amoxycillin and co-trimoxazole was .... Treatment of uncomplicated urinary tract infection in non-pregnant women. Postgrad ... Single-dose antibiotic treatment for symptomatic uri- nary tract infections in ...

  13. Examination of the Accuracy of Coding Hospital-Acquired...

    Data.gov (United States)

    U.S. Department of Health & Human Services — A new study, Examination of the Accuracy of Coding Hospital-Acquired Pressure Ulcer Stages, published in Volume 4, Issue 1 of the Medicare and Medicaid Research...

  14. Community-acquired pneumonia: 2012 history, mythology, and science.

    Science.gov (United States)

    Donowitz, Gerald R

    2013-01-01

    Pneumonia remains one of the major disease entities practicing physicians must manage. It is a leading cause of infection-related morbidity and mortality in all age groups, and a leading cause of death in those older than 65 years of age. Despite its frequency and importance, clinical questions have remained in the therapy of community-acquired pneumonia including when to start antibiotics, when to stop them, who to treat, and what agents to use. Answers to these questions have involved historical practice, mythology, and science-sometimes good science, and sometimes better science. How clinical decisions are made for patients with community-acquired pneumonia serves as an illustrative model for other problem areas of medicine and allows for insight as to how clinical decisions have been made and clinical practice established.

  15. Acquired immunodeficiency syndrome associated with blood-product transfusions

    International Nuclear Information System (INIS)

    Jett, J.R.; Kuritsky, J.N.; Katzmann, J.A.; Homburger, H.A.

    1983-01-01

    A 53-year-old white man had fever, malaise, and dyspnea on exertion. His chest roentgenogram was normal, but pulmonary function tests showed impaired diffusion capacity and a gallium scan showed marked uptake in the lungs. Results of an open-lung biopsy documented Pneumocystis carinii pneumonia. Immunologic test results were consistent with the acquired immunodeficiency syndrome. The patient denied having homosexual contact or using intravenous drugs. Twenty-nine months before the diagnosis of pneumocystis pneumonia was made, the patient had had 16 transfusions of whole blood, platelets, and fresh-frozen plasma during coronary artery bypass surgery at another medical center. This patient is not a member of any currently recognized high-risk group and is believed to have contracted the acquired immunodeficiency syndrome from blood and blood-product transfusions

  16. Genetic Determinism and the Innate-Acquired Distinction in Medicine

    Science.gov (United States)

    2009-01-01

    This article illustrates in which sense genetic determinism is still part of the contemporary interactionist consensus in medicine. Three dimensions of this consensus are discussed: kinds of causes, a continuum of traits ranging from monogenetic diseases to car accidents, and different kinds of determination due to different norms of reaction. On this basis, this article explicates in which sense the interactionist consensus presupposes the innate–acquired distinction. After a descriptive Part 1, Part 2 reviews why the innate–acquired distinction is under attack in contemporary philosophy of biology. Three arguments are then presented to provide a limited and pragmatic defense of the distinction: an epistemic, a conceptual, and a historical argument. If interpreted in a certain manner, and if the pragmatic goals of prevention and treatment (ideally specifying what medicine and health care is all about) are taken into account, then the innate–acquired distinction can be a useful epistemic tool. It can help, first, to understand that genetic determination does not mean fatalism, and, second, to maintain a system of checks and balances in the continuing nature–nurture debates. PMID:20234831

  17. Consumer attitudes about health care-acquired infections and hand hygiene.

    Science.gov (United States)

    McGuckin, Maryanne; Waterman, Richard; Shubin, Arlene

    2006-01-01

    Mandatory reporting and disclosure of health care-acquired infections have resulted in controversy over the perceived notion that consumers will not understand how to interpret data and that such information may negatively influence utilization of hospitals. The objective was to determine consumers' attitudes about health care-acquired infections, hand hygiene practices, and patient empowerment. A telephone survey based on a random digit dialing sample of all households in the United States was conducted. Consumers were asked about choosing a hospital, hand hygiene practices, and health care-acquired infections. Some 94% of respondents rated environmental cleanliness as very important. Hospital infection rates would influence decision making for 93% of consumers. Four in 5 consumers said they would ask their health care worker to wash and sanitize his or her hands. Our findings strongly suggest that (1) consumers will use infection data in selecting and/or leaving a hospital system and (2) consumers are ready to be empowered with information to ensure a positive outcome.

  18. Acquiring Procedural Skills from Lesson Sequences.

    Science.gov (United States)

    1985-08-13

    Teachers of Mathematics . Washington, D)C: NCTM . Brueckner, I..J. (1930) Diagnostic aund remedial teaching in arithmetic. Philadelphia. PA: Winston. Burton...arithmetic and algebra, fr-m multi-lesson curricula. The central hypothesis is that students and teachers obey cc: :-.entions that cause the goal hierarchy...students and • . teachers obey conventions that cause the goal hierarchy of the acquired procedure to be a particular structural function of the sequential

  19. Domestically Acquired Fascioliasis in Northern California

    Science.gov (United States)

    Weisenberg, Scott A.; Perlada, David E.

    2013-01-01

    Two cases of domestically acquired fascioliasis are reported. Patient One was a 63-year-old male who developed a febrile illness 2 months after eating watercress in Marin County. Patient Two was a 38-year-old male who had eaten watercress with Patient One, and also developed a febrile illness. Both patients had eosinophilia and liver lesions on imaging. Diagnosis was made by serology and treatment was with triclabendazole. PMID:23836562

  20. Domestically acquired fascioliasis in northern California.

    Science.gov (United States)

    Weisenberg, Scott A; Perlada, David E

    2013-09-01

    Two cases of domestically acquired fascioliasis are reported. Patient One was a 63-year-old male who developed a febrile illness 2 months after eating watercress in Marin County. Patient Two was a 38-year-old male who had eaten watercress with Patient One, and also developed a febrile illness. Both patients had eosinophilia and liver lesions on imaging. Diagnosis was made by serology and treatment was with triclabendazole.

  1. Prevalence of methicillin-resistant Staphylococcus aureus (MRSA in community-acquired primary pyoderma

    Directory of Open Access Journals (Sweden)

    Patil Rahul

    2006-01-01

    Full Text Available Background: Although prevalence of MRSA strains is reported to be increasing, there are no studies of their prevalence in community-acquired primary pyodermas in western India. Aims: This study aimed at determining the prevalence of MRSA infection in community-acquired primary pyodermas. Methods: Open, prospective survey carried out in a tertiary care hospital in Mumbai. Materials and Methods: Eighty-six patients with primary pyoderma, visiting the dermatology outpatient, were studied clinically and microbiologically. Sensitivity testing was done for vancomycin, sisomycin, gentamicin, framycetin, erythromycin, methicillin, cefazolin, cefuroxime, penicillin G and ciprofloxacin. Phage typing was done for MRSA positive strains. Results : The culture positivity rate was 83.7%. Staphylococcus aureus was isolated in all cases except two. Barring one, all strains of Staphylococcus were sensitive to methicillin. Conclusions: Methicillin resistance is uncommon in community-acquired primary pyodermas in Mumbai. Treatment with antibacterials active against MRSA is probably unwarranted for community-acquired primary pyodermas.

  2. Online continuing interprofessional education on hospital-acquired infections for Latin America

    Directory of Open Access Journals (Sweden)

    Julio C. Medina-Presentado

    2017-03-01

    Discussion: Implementation of this educational program showed the feasibility of a continent-wide interprofessional massive course on hospital acquired-infections in Latin America, in the two main languages spoken in the region. Next steps included a new edition of this course and a “New Challenges” course on hospital-acquired infections, which were successfully implemented in the second semester of 2015 by the same institutions.

  3. Acquired Auditory Verbal Agnosia and Seizures in Childhood

    Science.gov (United States)

    Cooper, Judith A.; Ferry, Peggy C.

    1978-01-01

    The paper presents a review of cases of children with acquired aphasia with convulsive disorder and discusses clinical features of three additional children in whom the specific syndrome of auditory verbal agnosia was identified. (Author/CL)

  4. Original Article Hospital Acquired Infection in Obafemi Awolowo ...

    African Journals Online (AJOL)

    2011-08-07

    Aug 7, 2011 ... This study assesses the pattern of hospital acquired infections. (HAIs) and state of hygiene ... Unfortunately, due to inadequate resources and commitment to ... Turkey, India and Mexico (Rosenthal et al., 2005;. Salomao et al.

  5. aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations.

    Directory of Open Access Journals (Sweden)

    Victor Renault

    Full Text Available Copy number variations (CNV include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH events which do not induce any net change in the copy number and are often associated with uniparental disomy. These phenomena have long been reported to be associated with diseases and particularly in cancer. Losses/gains of genomic regions are often correlated with lower/higher gene expression. On the other hand, loss of heterozygosity (LOH and cn-LOH are common events in cancer and may be associated with the loss of a functional tumor suppressor gene. Therefore, identifying recurrent CNV and cn-LOH events can be important as they may highlight common biological components and give insights into the development or mechanisms of a disease. However, no currently available tools allow a comprehensive whole-genome visualization of recurrent CNVs and cn-LOH in groups of samples providing absolute quantification of the aberrations leading to the loss of potentially important information.To overcome these limitations, we developed aCNViewer (Absolute CNV Viewer, a visualization tool for absolute CNVs and cn-LOH across a group of samples. aCNViewer proposes three graphical representations: dendrograms, bi-dimensional heatmaps showing chromosomal regions sharing similar abnormality patterns, and quantitative stacked histograms facilitating the identification of recurrent absolute CNVs and cn-LOH. We illustrated aCNViewer using publically available hepatocellular carcinomas (HCCs Affymetrix SNP Array data (Fig 1A. Regions 1q and 8q present a similar percentage of total gains but significantly different copy number gain categories (p-value of 0.0103 with a Fisher exact test, validated by another cohort of HCCs (p-value of 5.6e-7 (Fig 2B.aCNViewer is implemented in python and R and is available with a GNU GPLv3 license on GitHub https://github.com/FJD-CEPH/aCNViewer and Docker https://hub.docker.com/r/fjdceph/acnviewer/.aCNViewer@cephb.fr.

  6. aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations.

    Science.gov (United States)

    Renault, Victor; Tost, Jörg; Pichon, Fabien; Wang-Renault, Shu-Fang; Letouzé, Eric; Imbeaud, Sandrine; Zucman-Rossi, Jessica; Deleuze, Jean-François; How-Kit, Alexandre

    2017-01-01

    Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the copy number and are often associated with uniparental disomy. These phenomena have long been reported to be associated with diseases and particularly in cancer. Losses/gains of genomic regions are often correlated with lower/higher gene expression. On the other hand, loss of heterozygosity (LOH) and cn-LOH are common events in cancer and may be associated with the loss of a functional tumor suppressor gene. Therefore, identifying recurrent CNV and cn-LOH events can be important as they may highlight common biological components and give insights into the development or mechanisms of a disease. However, no currently available tools allow a comprehensive whole-genome visualization of recurrent CNVs and cn-LOH in groups of samples providing absolute quantification of the aberrations leading to the loss of potentially important information. To overcome these limitations, we developed aCNViewer (Absolute CNV Viewer), a visualization tool for absolute CNVs and cn-LOH across a group of samples. aCNViewer proposes three graphical representations: dendrograms, bi-dimensional heatmaps showing chromosomal regions sharing similar abnormality patterns, and quantitative stacked histograms facilitating the identification of recurrent absolute CNVs and cn-LOH. We illustrated aCNViewer using publically available hepatocellular carcinomas (HCCs) Affymetrix SNP Array data (Fig 1A). Regions 1q and 8q present a similar percentage of total gains but significantly different copy number gain categories (p-value of 0.0103 with a Fisher exact test), validated by another cohort of HCCs (p-value of 5.6e-7) (Fig 2B). aCNViewer is implemented in python and R and is available with a GNU GPLv3 license on GitHub https://github.com/FJD-CEPH/aCNViewer and Docker https

  7. Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.

    Science.gov (United States)

    Iourov, Ivan Y; Vorsanova, Svetlana G; Korostelev, Sergei A; Zelenova, Maria A; Yurov, Yuri B

    2015-01-01

    Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination or rearrangements, LCSH are rarely considered as a possible epigenetic cause of neurodevelopmental disorders. Additionally, despite being relevant to imprinting, LCSH at imprinted loci have not been truly addressed in terms of pathogenicity. In this study, we examined LCSH in children with unexplained intellectual disability, autism, congenital malformations and/or epilepsy focusing on chromosomal regions which harbor imprinted disease genes. Out of 267 cases, 14 (5.2 %) were found to have LCSH at imprinted loci associated with a clinical outcome. There were 5 cases of LCSH at 15p11.2, 4 cases of LCSH at 7q31.2, 3 cases of LCSH at 11p15.5, and 2 cases of LCSH at 7q21.3. Apart from a case of LCSH at 7q31.33q32.3 (~4 Mb in size), all causative LCSH were 1-1.5 Mb in size. Clinically, these cases were characterized by a weak resemblance to corresponding imprinting diseases (i.e., Silver-Russell, Beckwith-Wiedemann, and Prader-Willi/Angelman syndromes), exhibiting distinctive intellectual disability, autistic behavior, developmental delay, seizures and/or facial dysmorphisms. Parental consanguinity was detected in 8 cases (3 %), and these cases did not exhibit LCSH at imprinted loci. This study demonstrates that shorter LCSH at chromosomes 7q21.3, 7q31.2, 11p15.5, and 15p11.2 occur with a frequency of about 5 % in the children with intellectual disability, autism, congenital malformations and/or epilepsy. Consequently, this type of epigenetic mutations appears to be the most common one among children with neurodevelopmental diseases. Finally, since LCSH less than 2.5-10 Mb in size are generally ignored in diagnostic SNP microarray studies, one can conclude that an important

  8. The putative imprinted locus D15S9 within the common deletion region for the Prader-Willi and Angelman syndromes encodes two overlapping mRNAs transcribed from opposite strands

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  9. Parent stress across molecular subtypes of children with Angelman syndrome.

    Science.gov (United States)

    Miodrag, N; Peters, S

    2015-09-01

    Parenting stress has been consistently reported among parents of children with developmental disabilities. However, to date, no studies have investigated the impact of a molecular subtype of Angelman syndrome (AS) on parent stress, despite distinct phenotypic differences among subtypes. Data for 124 families of children with three subtypes of AS: class I and II deletions (n = 99), imprinting centre defects (IC defects; n = 11) and paternal uniparental disomy (UPD; n = 14) were drawn from the AS Rare Diseases Clinical Research Network (RDCRN) database and collected from five research sites across the Unites States. The AS study at the RDCRN gathered health information to understand how the syndrome develops and how to treat it. Parents completed questionnaires on their perceived psychological stress, the severity of children's aberrant behaviour and children's sleep patterns. Children's adaptive functioning and developmental levels were clinically evaluated. Child-related stress reached clinical levels for 40% of parents of children with deletions, 100% for IC defects and 64.3% for UPD. Sleep difficulties were similar and elevated across subtypes. There were no differences between molecular subtypes for overall child and parent-related stress. However, results showed greater isolation and lack of perceived parenting skills for parents of children with UPD compared with deletions. Better overall cognition for children with deletions was significantly related to more child-related stress while their poorer adaptive functioning was associated with more child-related stress. For all three groups, the severity of children's inappropriate behaviour was positively related to different aspects of stress. How parents react to stress depends, in part, on children's AS molecular subtype. Despite falling under the larger umbrella term of AS, it is important to acknowledge the unique aspects associated with children's molecular subtype. Identifying these factors can

  10. Cognitive development in Silver-Russell syndrome: a sibling-controlled study.

    Science.gov (United States)

    Noeker, Meinolf; Wollmann, Hartmut A

    2004-05-01

    This study examined cognitive development in Silver-Russell syndrome (SRS), a condition with intrauterine growth retardation, persisting short stature, and specific stigmata. Neuropsychological function and cognitive abilities were assessed in a sample of 36 children with SRS (21 males, 15 females; mean age 7 years 6 months, SD 2 years 8 months; age range 3 to 12 years) and 25 normally developing siblings (mean age 8 years 6 months, SD 2 years 7 months; age range 3 to 12 years) using the Kaufman Assessment Battery for Children. Special measures were taken to control for confounding factors and sample bias. Mean overall IQ score in the total SRS sample (95.7, SD 10.63), as measured by the Mental Processing Composite Scale, was significantly reduced (p=0.021) compared with test norms (IQ 100, SD 15), indicating a moderate cognitive impairment. Subscale analysis revealed some specific deficiencies. However, these cannot be attributed to an established category of specific learning disorder. The mean score in the Achievement Scale (91.25, SD 14.92), which is more sensitive to educational influences, showed stronger deficits (p=0.001). The sibling control group achieved a slightly better mean IQ score (104.20, SD 12.32) than test norms (p=0.10). Direct analysis of paired differences between the subsample of children with SRS and a sibling among the control group (n=25) revealed a significant mean difference of 8.08 IQ points (p=0.011). Risk factor analysis revealed that cognitive development is not associated with birth length (p=0.404), birthweight (p=0.820), growth hormone therapy (p=0.810), phenotypic severity (p=0.828), or sex (p=0.880). Two children with maternal uniparental disomy for the entire chromosome 7 had markedly lower IQ scores (81 and 84 respectively). In contrast to the few previous findings, children with SRS show only moderate, but significant, impairments in cognitive outcome, which are more striking in our sample when compared with siblings than

  11. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15(q27;q11.2 associated with Prader-Willi syndrome

    Directory of Open Access Journals (Sweden)

    Slater Howard R

    2005-05-01

    Full Text Available Abstract Background Prader-Willi syndrome (MIM #176270; PWS is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15(q27;q11.2. Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

  12. WAYS OF ACQUIRING FLYING PHOBIA.

    Science.gov (United States)

    Schindler, Bettina; Vriends, Noortje; Margraf, Jürgen; Stieglitz, Rolf-Dieter

    2016-02-01

    The few studies that have explored how flying phobia is acquired have produced contradictory results. We hypothesized that classical conditioning plays a role in acquiring flying phobia and investigated if vicarious (model) learning, informational learning through media, and experiencing stressful life events at the time of onset of phobia also play a role. Thirty patients with flying phobia and thirty healthy controls matched on age, sex, and education were interviewed with the Mini-DIPS, the short German version of the Anxiety Disorders Interview Schedule (DSM-IV diagnostic criteria) and the Fear-of-Flying History Interview. Fifty Percent of patients with flying phobia and 53% of healthy controls reported frightening events in the air. There was no significant difference between the two samples. Thus there were not more classical conditioning events for patients with flying phobia. There also was no significant difference between the two samples for vicarious (model) learning: 37% of flying phobia patients and 23% of healthy controls felt influenced by model learning. The influence of informational learning through media was significantly higher for the clinical sample (70%) than for the control group (37%). Patients with flying phobia experienced significantly more stressful life events in the period of their frightening flight experience (60%) than healthy controls (19%). Frightening experiences while flying are quite common, but not everybody develops a flying phobia. Stressful life events and other factors might enhance conditionability. Informational learning through negative media reports probably reinforces the development of flying phobia. Clinical implications are discussed. © 2015 Wiley Periodicals, Inc.

  13. Phylogenetically Acquired Representations and Evolutionary Algorithms.

    OpenAIRE

    Wozniak , Adrianna

    2006-01-01

    First, we explain why Genetic Algorithms (GAs), inspired by the Modern Synthesis, do not accurately model biological evolution, being rather an artificial version of artificial, rather than natural selection. Being focused on optimisation, we propose two improvements of GAs, with the aim to successfully generate adapted, desired behaviour. The first one concerns phylogenetic grounding of meaning, a way to avoid the Symbol Grounding Problem. We give a definition of Phylogenetically Acquired Re...

  14. Severe Recurrent Achalasia Cardia Responding to Treatment of Severe Autoimmune Acquired Haemophilia

    Directory of Open Access Journals (Sweden)

    H. Al-Jafar

    2012-09-01

    Full Text Available Acquired haemophilia A and severe acquired achalasia are both very rare conditions with unknown aetiology. Haemophilia A is a haemorrhagic disease induced by deficiency or malfunction of coagulation factor VIII. Congenital haemophilia is an inherited disease transmitted by the mother through X-linked inheritance and primarily affects males. However, acquired haemophilia A is a serious, sudden-onset, autoimmune disease that affects either sex. In addition, achalasia is a disease of the oesophagus caused by abnormal function of the nerves and muscles. It causes swallowing difficulties due to the inability of the lower oesophageal sphincter to relax during swallowing, leading to dysphagia, regurgitation and chest pain. In this report, we describe the case of a patient with severe, newly diagnosed, acquired haemophilia A with long-standing, recurrent achalasia; the achalasia had recurred 3 times despite complete and proper surgical fixation. Acquired haemophilia A is treated with immunosuppressive therapy. High-dose steroid therapy was administered for 7 months, during which the patient responded well; moreover, the achalasia did not recur for more than 2 years. The response of the achalasia to immunosuppressive therapy suggests that achalasia may be an autoimmune disorder and that there may be an association between both diseases. The findings of the present case suggest that achalasia may favourably respond to steroid therapy as a first-line treatment prior to surgery.

  15. Principles of Antibiotic Management of Community-Acquired Pneumonia.

    Science.gov (United States)

    Bender, Michael T; Niederman, Michael S

    2016-12-01

    Community-acquired pneumonia (CAP) encompasses a broad spectrum of disease severity and may require outpatient, inpatient, or intensive care management. Successful treatment hinges on expedient delivery of appropriate antibiotic therapy tailored to both the likely offending pathogens and the severity of disease. This review summarizes key principles in starting treatment and provides recommended empiric therapy regimens for each site of care. In addition, we discuss the antimicrobial and anti-inflammatory role macrolides play in CAP, as well as specific information for managing individual CAP pathogens such as community-acquired methicillin-resistant Staphylococcus aureus and drug-resistant Streptococcus pneumoniae . We also examine several novel antibiotics being developed for CAP and review the evidence guiding duration of therapy and current best practices for the transition of hospitalized patients from intravenous antibiotics to oral therapy. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  16. Sigmoid plate dehiscence: Congenital or acquired condition?

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Zhaohui, E-mail: lzhtrhos@163.com [Capital Medical University, Beijing Tongren Hospital, No 1 Dong Jiao Min Street, Dongcheng District, Beijing 100730 (China); Li, Jing, E-mail: lijingxbh@yahoo.com.cn [Capital Medical University, Beijing Tongren Hospital, No 1 Dong Jiao Min Street, Dongcheng District, Beijing 100730 (China); Zhao, Pengfei, E-mail: zhaopengf05@163.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China); Lv, Han, E-mail: chrislvhan@126.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China); Dong, Cheng, E-mail: derc007@sina.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China); Liu, Wenjuan, E-mail: wenjuanliu@163.com [Jining No. 1 People' s Hospital, No. 6 Health Street, Jining 272100 (China); Wang, Zhenchang, E-mail: cjr.wzhch@vip.163.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China)

    2015-05-15

    Highlights: • CT with multiplanar reformations can accurately display the sigmoid platet dehiscence. • The prevalence of sigmoid plate dehiscence was no significant difference among different age groups. • The size of sigmoid plate bony defects were not statistically different among different age groups. • The sigmoid plate dehiscence is more commonly a congenital than an acquired condition. - Abstract: Background and purpose: The imaging features of sigmoid plate dehiscence-induced pulsatile tinnitus have been presented. The origin of the sigmoid plate dehiscence, however, remains unclear. Our aim was to assess the prevalence and extent of sigmoid plate dehiscence on computed tomography (CT) images in multiple age groups to determine whether this condition is more likely to be congenital or acquired. Materials and methods: We retrospectively reviewed contrast-enhanced CT images of sigmoid plates of temporal bones in 504 patients. Each temporal bone was characterized as normal or dehiscent. Patients were then subcategorized into four age groups, and the prevalence and extent of dehiscent sigmoid plates in each group were calculated and compared. Results: Overall, 80 patients had sigmoid plate dehiscence, nine of whom had it bilaterally. In successively older age groups, the prevalences of sigmoid plate dehiscence were 18.9%, 20.1%, 14.5%, and 12.7%, respectively. Respective average anteroposterior bony defect diameters were 3.7 ± 1.7, 3.0 ± 1.3, 3.1 ± 1.5, and 3.0 ± 1.1 mm. Respective average vertical bony defect diameters were 3.6 ± 2.3, 2.6 ± 1.2, 3.2 ± 1.5, and 3.0 ± 1.7 mm. The prevalence and extent of sigmoid plate dehiscence were not statistically different among the four age groups. Conclusions: The similar radiologic prevalence and extent of dehiscent sigmoid plates among the age groups suggest that the dehiscence is more commonly a congenital than an acquired condition.

  17. Sigmoid plate dehiscence: Congenital or acquired condition?

    International Nuclear Information System (INIS)

    Liu, Zhaohui; Li, Jing; Zhao, Pengfei; Lv, Han; Dong, Cheng; Liu, Wenjuan; Wang, Zhenchang

    2015-01-01

    Highlights: • CT with multiplanar reformations can accurately display the sigmoid platet dehiscence. • The prevalence of sigmoid plate dehiscence was no significant difference among different age groups. • The size of sigmoid plate bony defects were not statistically different among different age groups. • The sigmoid plate dehiscence is more commonly a congenital than an acquired condition. - Abstract: Background and purpose: The imaging features of sigmoid plate dehiscence-induced pulsatile tinnitus have been presented. The origin of the sigmoid plate dehiscence, however, remains unclear. Our aim was to assess the prevalence and extent of sigmoid plate dehiscence on computed tomography (CT) images in multiple age groups to determine whether this condition is more likely to be congenital or acquired. Materials and methods: We retrospectively reviewed contrast-enhanced CT images of sigmoid plates of temporal bones in 504 patients. Each temporal bone was characterized as normal or dehiscent. Patients were then subcategorized into four age groups, and the prevalence and extent of dehiscent sigmoid plates in each group were calculated and compared. Results: Overall, 80 patients had sigmoid plate dehiscence, nine of whom had it bilaterally. In successively older age groups, the prevalences of sigmoid plate dehiscence were 18.9%, 20.1%, 14.5%, and 12.7%, respectively. Respective average anteroposterior bony defect diameters were 3.7 ± 1.7, 3.0 ± 1.3, 3.1 ± 1.5, and 3.0 ± 1.1 mm. Respective average vertical bony defect diameters were 3.6 ± 2.3, 2.6 ± 1.2, 3.2 ± 1.5, and 3.0 ± 1.7 mm. The prevalence and extent of sigmoid plate dehiscence were not statistically different among the four age groups. Conclusions: The similar radiologic prevalence and extent of dehiscent sigmoid plates among the age groups suggest that the dehiscence is more commonly a congenital than an acquired condition

  18. Acquired secondary Grynfeltt's hernia: a case report

    International Nuclear Information System (INIS)

    Renck, Decio Valente; Lopes Junior, Joao Ivan

    2009-01-01

    Lumbar hernia is a rare condition whose diagnosis is hardly achieved. The prevalence is higher in elderly men. The present case report describes the case of a male, 78-year-old patient who underwent pleural effusion drainage 17 years before presenting with clinical manifestations and tomographic findings compatible with acquired secondary Grynfeltt's hernia. (author)

  19. Community-acquired pneumonia - a clinical approach to ...

    African Journals Online (AJOL)

    to pneumonia acquired within the general community. CAP remains a common and ... patients.2 The exact incidence of atypical pathogens as a cause of CAP in South Africa is ... nor specific enough to use in clinical practice. There is a ..... resolve within 14 days but non-respiratory symptoms such as fatigue may persist for ...

  20. Gaps in patient care practices to prevent hospital-acquired delirium.

    Science.gov (United States)

    Alagiakrishnan, Kannayiram; Marrie, Thomas; Rolfson, Darryl; Coke, William; Camicioli, Richard; Duggan, D'Arcy; Launhardt, Bonnie; Fisher, Bruce; Gordon, Debbie; Hervas-Malo, Marilou; Magee, Bernice; Wiens, Cheryl

    2009-10-01

    To evaluate the current patient care practices that address the predisposing and precipitating factors contributing to the prevention of hospital-acquired delirium in the elderly. Prospective cohort (observational) study. Patients 65 years of age and older who were admitted to medical teaching units at the University of Alberta Hospital in Edmonton over a period of 7 months and who were at risk of delirium. Medical teaching units at the University of Alberta. Demographic data and information on predisposing factors for hospital-acquired delirium were obtained for all patients. Documented clinical practices that likely prevent common precipitants of delirium were also recorded. Of the 132 patients enrolled, 20 (15.2%) developed hospital-acquired delirium. At the time of admission several predisposing factors were not documented (eg, possible cognitive impairment 16 [12%], visual impairment 52 [39.4%], and functional status of activities of daily living 99 [75.0%]). Recorded precipitating factors included catheter use, screening for dehydration, and medications. Catheters were used in 35 (26.5%) patients, and fluid intake-and-output charting assessed dehydration in 57 (43.2%) patients. At the time of admission there was no documentation of hearing status in 69 (52.3%) patients and aspiration risk in 104 (78.8%) patients. After admission, reorientation measures were documented in only 16 (12.1%) patients. Although all patients had brief mental status evaluations performed once daily, this was not noted to occur twice daily (which would provide important information about fluctuation of mental status) and there was no formal attention span testing. In this study, hospital-acquired delirium was also associated with increased mortality (P < .004), increased length of stay (P < .007), and increased institutionalization (P < .027). Gaps were noted in patient care practices that might contribute to hospital-acquired delirium and also in measures to identify the development

  1. When words fail us: insights into language processing from developmental and acquired disorders.

    Science.gov (United States)

    Bishop, Dorothy V M; Nation, Kate; Patterson, Karalyn

    2014-01-01

    Acquired disorders of language represent loss of previously acquired skills, usually with relatively specific impairments. In children with developmental disorders of language, we may also see selective impairment in some skills; but in this case, the acquisition of language or literacy is affected from the outset. Because systems for processing spoken and written language change as they develop, we should beware of drawing too close a parallel between developmental and acquired disorders. Nevertheless, comparisons between the two may yield new insights. A key feature of connectionist models simulating acquired disorders is the interaction of components of language processing with each other and with other cognitive domains. This kind of model might help make sense of patterns of comorbidity in developmental disorders. Meanwhile, the study of developmental disorders emphasizes learning and change in underlying representations, allowing us to study how heterogeneity in cognitive profile may relate not just to neurobiology but also to experience. Children with persistent language difficulties pose challenges both to our efforts at intervention and to theories of learning of written and spoken language. Future attention to learning in individuals with developmental and acquired disorders could be of both theoretical and applied value.

  2. Hydrocephalus in adults with community-acquired bacterial meningitis

    NARCIS (Netherlands)

    Soemirien Kasanmoentalib, E.; Brouwer, Matthijs C.; van der Ende, Arie; van de Beek, Diederik

    2010-01-01

    Objective: To evaluate the occurrence, treatment, and outcome of hydrocephalus complicating community-acquired bacterial meningitis in adults. Methods: Case series from a prospective nationwide cohort study from Dutch hospitals from 2006 to 2009. Results: Hydrocephalus was diagnosed in 26 of 577

  3. Hydrocephalus is a rare outcome in community-acquired bacterial meningitis in adults

    DEFF Research Database (Denmark)

    Bodilsen, Jacob; Schønheyder, Henrik Carl; Nielsen, Henrik I

    2013-01-01

    BACKGROUND: Community-acquired bacterial meningitis (CABM) continues to have a high mortality rate and often results in severe sequelae among survivors. Lately, an increased effort has been focused on describing the neurological complications of meningitis including hydrocephalus. To aid in this ......BACKGROUND: Community-acquired bacterial meningitis (CABM) continues to have a high mortality rate and often results in severe sequelae among survivors. Lately, an increased effort has been focused on describing the neurological complications of meningitis including hydrocephalus. To aid...... in this field of research we set out to ascertain the risk and outcome of hydrocephalus in patients with community-acquired bacterial meningitis (CABM) in North Denmark Region. METHODS: We conducted a retrospective population-based cohort study of CABM cases above 14 years of age. Cases diagnosed during a 13......-year period, 1998 through 2010, were identified in a laboratory register and data were acquired through patient records. Cases not confirmed by culture met other strict inclusion criteria. The diagnosis of hydrocephalus relied upon the radiologists' reports on cranial imaging. Outcome was graded...

  4. Acquired heart conditions in adults with congenital heart disease: a growing problem.

    Science.gov (United States)

    Tutarel, Oktay

    2014-09-01

    The number of adults with congenital heart disease is increasing due to the great achievements in the field of paediatric cardiology, congenital heart surgery and intensive care medicine over the last decades. Mortality has shifted away from the infant and childhood period towards adulthood. As congenital heart disease patients get older, a high prevalence of cardiovascular risk factors is encountered similar to the general population. Consequently, the contribution of acquired morbidities, especially acquired heart conditions to patient outcome, is becoming increasingly important. Therefore, to continue the success story of the last decades in the treatment of congenital heart disease and to further improve the outcome of these patients, more attention has to be given to the prevention, detection and adequate therapy of acquired heart conditions. The aim of this review is to give an overview about acquired heart conditions that may be encountered in adults with congenital heart disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  5. Severe Community-acquired Pneumonia Due to Legionella pneumophila Serogroup 6

    Directory of Open Access Journals (Sweden)

    Chung-Yu Chen

    2006-01-01

    Full Text Available Legionella pneumophila is a common cause of sporadic community-acquired pneumonia, but culture-proven legionellosis is rarely diagnosed. There is no laboratory test for Legionnaires' disease that can detect all patients with the disease. Culture is the standard diagnostic method and should be initiated as soon as possible in suspected cases. We describe a rare case of community-acquired pneumonia caused by L. pneumophila serogroup 6. A 77-year-old man was admitted to a tertiary care hospital because of high fever, productive cough, and progressive dyspnea. Chest radiography showed bilateral pneumonia, which led to respiratory failure necessitating mechanical ventilatory support. Despite antibiotic therapy, his condition continued to deteriorate and acute renal failure also developed. Urine was negative for L. pneumophila. Culture of the sputum yielded L. pneumophila serogroup 6, although there was no elevation of the serum antibody titer. Pneumonia resolved gradually and he was extubated after treatment with levofloxacin followed by erythromycin. L. pneumophila other than serogroup 1 should be included in the differential diagnosis of patients with suspected atypical community-acquired pneumonia.

  6. The dynamics of naturally acquired immunity to Plasmodium falciparum infection.

    Directory of Open Access Journals (Sweden)

    Mykola Pinkevych

    Full Text Available Severe malaria occurs predominantly in young children and immunity to clinical disease is associated with cumulative exposure in holoendemic settings. The relative contribution of immunity against various stages of the parasite life cycle that results in controlling infection and limiting disease is not well understood. Here we analyse the dynamics of Plasmodium falciparum malaria infection after treatment in a cohort of 197 healthy study participants of different ages in order to model naturally acquired immunity. We find that both delayed time-to-infection and reductions in asymptomatic parasitaemias in older age groups can be explained by immunity that reduces the growth of blood stage as opposed to liver stage parasites. We found that this mechanism would require at least two components - a rapidly acting strain-specific component, as well as a slowly acquired cross-reactive or general immunity to all strains. Analysis and modelling of malaria infection dynamics and naturally acquired immunity with age provides important insights into what mechanisms of immune control may be harnessed by malaria vaccine strategists.

  7. Technical Equivalency Documentation for a Newly Acquired Alpha Spectroscopy System

    International Nuclear Information System (INIS)

    Hickman, D P; Fisher, S K; Hann, P R; Hume, R

    2007-01-01

    The response of a recently acquired Canberra(trademark) Alpha Analyst 'Blue' system (Chamber Number's 173-208) used by the Hazards Control, Radiation Safety Section, WBC/Spectroscopy Team has been studied with respect to an existing Canberra system. The existing Canberra system consists of thirty Alpha Analyst dual chambers Model XXXX comprising a total of sixty detectors (Chambers Number's 101-124 and 137-172). The existing chambers were previously compared to an older system consisting of thirty-six Model 7401 alpha spectrometry chambers (Chamber Number's 1-36) Chambers 101-124 and 137-172 are DOELAP accredited. The older system was previously DOELAP accredited for the routine Alpha Spectroscopy program used in LLNL's in vitro bioassay program. The newly acquired Alpha Analyst system operates on a network with software that controls and performs analysis of the current Alpha Analyst system (Chamber Number's 101-124 and 137-172). This exact same software is used for the current system and the newly acquired system and is DOELAP accredited. This document compares results from the existing Alpha System with the newer Alpha Analyst system

  8. Acute periostitis in early acquired syphilis simulating shin splints in a jogger.

    Science.gov (United States)

    Meier, J L; Mollet, E

    1986-01-01

    Acute periostitis affecting the long bones is a characteristic but uncommon manifestation of syphilis in the adult with an early acquired infection. This report describes the history of a jogger who developed acute localized periostitis of the shaft of both tibiae during the early stage of acquired syphilis. Symptomatology was initially attributed to the medial tibial stress syndrome.

  9. Atypical pathogens and challenges in community-acquired pneumonia

    African Journals Online (AJOL)

    Atypical organisms such as Mycoplasma pneumoniae, Chlamydia pneumoniae, and Legionella pneumophila are implicated in up to 40 percent of cases of community-acquired pneumonia. Antibiotic treatment is empiric and includes coverage for both typical and atypical organisms. Doxycycline, a fluoroquinolone with ...

  10. Bacterial Isolates andAntibiotic Sensitivity in Community Acquired ...

    African Journals Online (AJOL)

    Objective: The objective of the studywas to determine bacterial causes of community acquired pneumonia and their antibiotic sensitivity pattern amongst patients admitted intomedicalwards inAminu Kano Teaching Hospital, Kano, Nigeria Methods: The study incorporated patients aged fifteen years and above admitted into ...

  11. Тhe features of severe community acquired pneumonia

    Directory of Open Access Journals (Sweden)

    Avramenko I.V.

    2015-06-01

    Full Text Available Based on data from a prospective analysis for the year of observation, the article presents information about the features of severe community acquired pneumonia in patients who were hospitalized at the department of pulmonology (or therapy, as well as department of the intensive care from three teaching hospitals in Dnepropetrovsk, namely "Dnipropetrovsk City Hospital №6», "Dnipropetrovsk City Hospital №2», "Dnipropetrovsk City Hospital №16», which are the clinical ones of "Dnepropetrovsk Medical Academy of the Ministry of Health Ukraine". Dependence of the severity of the condition shown on duration of illness before admission, features of season character of disease. The effect of breathing exercises on the course of the disease. The results can be the basis for a more personal approach to the development of diagnostic and therapeutic programs for patients with severe community-acquired pneumonia.

  12. The obesity paradox in community-acquired bacterial pneumonia.

    Science.gov (United States)

    Corrales-Medina, Vicente F; Valayam, Josemon; Serpa, Jose A; Rueda, Adriana M; Musher, Daniel M

    2011-01-01

    The impact of obesity on the outcome of pneumonia is uncertain. We retrospectively identified 266 hospitalized patients with proven pneumococcal or Haemophilus community-acquired pneumonia who had at least one body mass index (BMI, kg/m²) value documented in the 3 months before admission. Patients were classified as underweight (BMI values and BMI categories with the mortality at 30 days after admission for pneumonia was investigated. Increasing BMI values were associated with reduced 30-day mortality, even after adjustment for significant covariates (odds ratio 0.88, confidence interval 0.81-0.96; p<0.01). There was a significant trend towards lower mortality in the overweight and obese (non-parametric trend, p=0.02). Our data suggest that obesity may exert a protective effect against 30-day mortality from community-acquired bacterial pneumonia. Copyright © 2010 International Society for Infectious Diseases. All rights reserved.

  13. The impact of community-acquired pneumonia on the health-related quality-of-life in elderly.

    Science.gov (United States)

    Mangen, Marie-Josée J; Huijts, Susanne M; Bonten, Marc J M; de Wit, G Ardine

    2017-03-14

    The sustained health-related quality-of-life of patients surviving community-acquired pneumonia has not been accurately quantified. The aim of the current study was to quantify differences in health-related quality-of-life of community-dwelling elderly with and without community-acquired pneumonia during a 12-month follow-up period. In a matched cohort study design, nested in a prospective randomized double-blind placebo-controlled trial on the efficacy of the 13-valent pneumococcal vaccine in community-dwelling persons of ≥65 years, health-related quality-of-life was assessed in 562 subjects hospitalized with suspected community-acquired pneumonia (i.e. diseased cohort) and 1145 unaffected persons (i.e. non-diseased cohort) matched to pneumonia cases on age, sex, and health status (EQ-5D-3L-index). Health-related quality-of-life was determined 1-2 weeks after hospital discharge/inclusion and 1, 6 and 12 months thereafter, using Euroqol EQ-5D-3L and Short Form-36 Health survey questionnaires. One-year quality-adjusted life years (QALY) were estimated for both diseased and non-diseased cohorts. Separate analyses were performed for pneumonia cases with and without radiologically confirmed community-acquired pneumonia. The one-year excess QALY loss attributed to community-acquired pneumonia was 0.13. Mortality in the post-discharge follow-up year was 8.4% in community-acquired pneumonia patients and 1.2% in non-diseased persons (p pneumonia patients, compared to non-diseased persons, but differences in health-related quality-of-life between radiologically confirmed and non-confirmed community-acquired pneumonia cases were not statistically significant. Community-acquired pneumonia was associated with a six-fold increased mortality and 16% lower quality-of-life in the post-discharge year among patients surviving hospitalization for community-acquired pneumonia, compared to non-diseased persons. ClinicalTrials.gov, NCT00812084 .

  14. Lung ultrasound for the diagnosis of community-acquired pneumonia in children.

    Science.gov (United States)

    Stadler, Jacob A M; Andronikou, Savvas; Zar, Heather J

    2017-10-01

    Ultrasound (US) has been proposed as an alternative first-line imaging modality to diagnose community-acquired pneumonia in children. Lung US has the potential benefits over chest radiography of being radiation free, subject to fewer regulatory requirements, relatively lower cost and with immediate bedside availability of results. However, the uptake of lung US into clinical practice has been slow and it is not yet included in clinical guidelines for community-acquired pneumonia in children. The aim of this review is to give an overview of the equipment and techniques used to perform lung US in children with suspected pneumonia and the interpretation of relevant sonographic findings. We also summarise the current evidence of diagnostic accuracy and reliability of lung US compared to alternative imaging modalities in children and critically consider the strengths and limitations of lung US for use in children presenting with suspected community-acquired pneumonia.

  15. Botulinum toxin in the management of sialorrhoea in acquired brain injury

    LENUS (Irish Health Repository)

    Carroll, A

    2016-06-01

    Sialorrhoea as a consequence of severe acquired brain injury can significantly negatively impact on quality of life. Medications used in its management have many side effects which can cause problems in the severely disabled. Botulinum toxin is an effective treatment of sialorrhoea in a number of neurological conditions but may also have a role to play in the management of sialorrhoea following severe ABI. We report on 4 cases of sialorrhoea following acquired brain injury causing a variety of problems, whose parotid glands were injected with Botulinum toxin type A (Dysport) 50mu each, under ultrasound guidance. All cases had a clinically and statistically significant reduction in drooling as measured by the teacher drooling scale (p=0.005) and carers Visual Analogue Scale (p=0.012). There were no side effects reported. Botulinum toxin is an effective treatment for sialorrhoea associated with acquired brain injury.

  16. Radiological pulmonary manifestations of acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Marchiori, Edson; Melo, Alessandro Severo Alves de; Ossa, Alfonso Jaramillo

    1999-01-01

    In this article are reviewed the principal radiologic manifestations of inflammatory and tumoral diseases the compromise the lungs of patients with acquired immunodeficiency syndrome. In the group of inflammatory diseases the radiologic aspects of pneumocystosis, cytomegalovirus disease, cryptococcosis, tuberculosis and bacterial pneumonias are emphasized. In the neoplasic diseases' group the aspects of lymphoma and Kaposi's sarcoma are specially presented. (author)

  17. A Case Of Bilateral Acquired Localized Lipoatrophy

    Directory of Open Access Journals (Sweden)

    Osman Tanrıkulu

    2016-07-01

    Full Text Available Lipoatrophy is characterized by inflammation and tissue loss in fatty tissue. This disease may be congenital or acquired, primary or secondary. Secondary lipoatrophy develops with infections, collagen tissue diseases, tumors and drug injections. In this report, we present the case of a 14-year-old female patient who developed lipoatrophy following intramuscular steroid injection to both buttocks.

  18. 25 CFR 166.219 - How do I acquire a permit through negotiation?

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false How do I acquire a permit through negotiation? 166.219 Section 166.219 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAND AND WATER GRAZING PERMITS Permit Requirements Obtaining A Permit § 166.219 How do I acquire a permit through negotiation? (a) Permits may be negotiated and granted by th...

  19. Oceanic protists with different forms of acquired phototrophy display contrasting biogeographies and abundance.

    Science.gov (United States)

    Leles, S G; Mitra, A; Flynn, K J; Stoecker, D K; Hansen, P J; Calbet, A; McManus, G B; Sanders, R W; Caron, D A; Not, F; Hallegraeff, G M; Pitta, P; Raven, J A; Johnson, M D; Glibert, P M; Våge, S

    2017-08-16

    This first comprehensive analysis of the global biogeography of marine protistan plankton with acquired phototrophy shows these mixotrophic organisms to be ubiquitous and abundant; however, their biogeography differs markedly between different functional groups. These mixotrophs, lacking a constitutive capacity for photosynthesis (i.e. non-constitutive mixotrophs, NCMs), acquire their phototrophic potential through either integration of prey-plastids or through endosymbiotic associations with photosynthetic microbes. Analysis of field data reveals that 40-60% of plankton traditionally labelled as (non-phototrophic) microzooplankton are actually NCMs, employing acquired phototrophy in addition to phagotrophy. Specialist NCMs acquire chloroplasts or endosymbionts from specific prey, while generalist NCMs obtain chloroplasts from a variety of prey. These contrasting functional types of NCMs exhibit distinct seasonal and spatial global distribution patterns. Mixotrophs reliant on 'stolen' chloroplasts, controlled by prey diversity and abundance, dominate in high-biomass areas. Mixotrophs harbouring intact symbionts are present in all waters and dominate particularly in oligotrophic open ocean systems. The contrasting temporal and spatial patterns of distribution of different mixotroph functional types across the oceanic provinces, as revealed in this study, challenges traditional interpretations of marine food web structures. Mixotrophs with acquired phototrophy (NCMs) warrant greater recognition in marine research. © 2017 The Author(s).

  20. The nutritional literacy of elementary school pupils in the perspective of acquiring nutritional skills

    OpenAIRE

    Kostanjevec, Stojan; Erjavšek, Martina

    2016-01-01

    A person's health and quality of life are influenced by the degree of his or her nutritional literacy, and the acquired nutritional skills, determining the choice of food prepared and consumed by the person constitute an important part of it. Persons with nutritional skills are capable of using the acquired nutritional knowledge in planning their diet, buying their foodstuffs and in preparing their meals. The purpose of the study was to establish the nutritional skills acquired by elementary ...

  1. The mitochondrial LSU rRNA group II intron of Ustilago maydis encodes an active homing endonuclease likely involved in intron mobility.

    Directory of Open Access Journals (Sweden)

    Anja Pfeifer

    Full Text Available BACKGROUND: The a2 mating type locus gene lga2 is critical for uniparental mitochondrial DNA inheritance during sexual development of Ustilago maydis. Specifically, the absence of lga2 results in biparental inheritance, along with efficient transfer of intronic regions in the large subunit rRNA gene between parental molecules. However, the underlying role of the predicted LAGLIDADG homing endonuclease gene I-UmaI located within the group II intron LRII1 has remained unresolved. METHODOLOGY/PRINCIPAL FINDINGS: We have investigated the enzymatic activity of I-UmaI in vitro based on expression of a tagged full-length and a naturally occurring mutant derivative, which harbors only the N-terminal LAGLIDADG domain. This confirmed Mg²⁺-dependent endonuclease activity and cleavage at the LRII1 insertion site to generate four base pair extensions with 3' overhangs. Specifically, I-UmaI recognizes an asymmetric DNA sequence with a minimum length of 14 base pairs (5'-GACGGGAAGACCCT-3' and tolerates subtle base pair substitutions within the homing site. Enzymatic analysis of the mutant variant indicated a correlation between the activity in vitro and intron homing. Bioinformatic analyses revealed that putatively functional or former functional I-UmaI homologs are confined to a few members within the Ustilaginales and Agaricales, including the phylogenetically distant species Lentinula edodes, and are linked to group II introns inserted into homologous positions in the LSU rDNA. CONCLUSIONS/SIGNIFICANCE: The present data provide strong evidence that intron homing efficiently operates under conditions of biparental inheritance in U. maydis. Conversely, uniparental inheritance may be critical to restrict the transmission of mobile introns. Bioinformatic analyses suggest that I-UmaI-associated introns have been acquired independently in distant taxa and are more widespread than anticipated from available genomic data.

  2. Hospital-acquired complications in a randomized controlled clinical trial of a geriatric consultation team.

    Science.gov (United States)

    Becker, P M; McVey, L J; Saltz, C C; Feussner, J R; Cohen, H J

    1987-05-01

    As part of a controlled clinical trial of a geriatric consultation team (GCT), we investigated whether a GCT could affect the incidence of hospital-acquired complications in elderly patients. One hundred eighty-five patients, aged 75 years and older, were randomized into an intervention (N = 92) and a control (N = 93) group. Members of the intervention group received a GCT consultation and were routinely followed up throughout their hospitalization. The incidence of hospital-acquired complications for the entire study population was 38%. The type and rate of hospital-acquired complications in the intervention and control groups were not significantly different. Functional status on admission and admission to the psychiatry service were predictive for the occurrence of a hospital-acquired complication. In a broadly selected population such as this, the intensity of care available through a GCT was unable to reduce the occurrence of hospital-acquired complications. However, since this is only one aspect of a GCT function, and others may be of great importance, such aspects, and more targeted populations, must be evaluated before final conclusions can be reached about GCT efficiency.

  3. Mechanisms, Risk Factors, and Management of Acquired Long QT Syndrome: A Comprehensive Review

    Directory of Open Access Journals (Sweden)

    Eleftherios M. Kallergis

    2012-01-01

    Full Text Available Long QT syndrome is characterized by prolongation of the corrected QT (QTc interval on the surface electrocardiogram and is associated with precipitation of torsade de pointes (TdP, a polymorphic ventricular tachycardia that may cause sudden death. Acquired long QT syndrome describes pathologic excessive prolongation of the QT interval, upon exposure to an environmental stressor, with reversion back to normal following removal of the stressor. The most common environmental stressor in acquired long QT syndrome is drug therapy. Acquired long QT syndrome is an important issue for clinicians and a significant public health problem concerning the large number of drugs with this adverse effect with a potentially fatal outcome, the large number of patients exposed to these drugs, and our inability to predict the risk for a given individual. In this paper, we focus on mechanisms underlying QT prolongation, risk factors for torsades de pointes and describe the short- and long-term treatment of acquired long QT syndrome.

  4. The sensitivity status of community-acquired Staphylococcus aureus ...

    African Journals Online (AJOL)

    Community acquired Staphylococcus aureus was isolated from various infectious sites in two private laboratories in Kano-city, Nigeria. A total of 247 (11%) Staphylococcu aureus isolates were recovered from all infectious sites except cerebro-spinal fluid. The least Staphylococcus aureus isolates were found in urine ...

  5. Acquired thrombotic thrombocytopenic purpura: new therapeutic options and their optimal use.

    Science.gov (United States)

    Cataland, S R; Wu, H M

    2015-06-01

    Advances in our understanding of the pathophysiology of both congenital and acquired thrombotic thrombocytopenic purpura (TTP) have led to both an increased understanding of the disease and novel approaches to therapy. The efficacy of rituximab in acquired TTP has led to consideration of rituximab as a prophylactic therapy to prevent relapse of TTP. Novel therapies that target the A1 domain of von Willebrand factor (VWF) to block the formation of microthrombotic disease have also entered clinical study and have demonstrated promise as potential therapeutic options. Additionally, a recombinant ADAMTS13 protease has been developed which may be an important therapeutic option for both congenital and acquired TTP. The development of these new therapeutic options for patients diagnosed with TTP has increased the importance of conducting prospective, randomized studies with these agents to both confirm their efficacy and more importantly understand their most appropriate role in the treatment of patients with TTP. © 2015 International Society on Thrombosis and Haemostasis.

  6. Toward immunogenetic studies of amphibian chytridiomycosis: Linking innate and acquired immunity

    Science.gov (United States)

    Richmond, J.Q.; Savage, Anna E.; Zamudio, Kelly R.; Rosenblum, E.B.

    2009-01-01

    Recent declines in amphibian diversity and abundance have contributed significantly to the global loss of biodiversity. The fungal disease chytridiomycosis is widely considered to be a primary cause of these declines, yet the critical question of why amphibian species differ in susceptibility remains unanswered. Considerable evidence links environmental conditions and interspecific variability of the innate immune system to differential infection responses, but other sources of individual, population, or species-typical variation may also be important. In this article we review the preliminary evidence supporting a role for acquired immune defenses against chytridiomycosis, and advocate for targeted investigation of genes controlling acquired responses, as well as those that functionally bridge the innate and acquired immune systems. Immunogenetic data promise to answer key questions about chytridiomycosis susceptibility and host-pathogen coevolution, and will draw much needed attention to the importance of considering evolutionary processes in amphibian conservation management and practice. ?? 2009 by American Institute of Biological Sciences.

  7. Clinical Predictors of Hospital-acquired Pneumonia Associated with Acute Ischemic

    Directory of Open Access Journals (Sweden)

    Alexis Suárez Quesada

    2015-06-01

    Full Text Available Background: hospital-acquired pneumonia is a constant challenge given the current microbiological spectrum, antimicrobial resistance together with its high mortality, morbidity and hospital costs. Objective: to identify the clinical predictors of pneumonia associated with acute ischemic stroke. Methods: a prospective cohort study was conducted in 201 patients diagnosed with acute ischemic stroke consecutively admitted to the stroke unit of the General Carlos Manuel de Céspedes Teaching Hospital during the first seven days after the onset, from January 2012 through December 2013. The independent predictors of hospital-acquired pneumonia were obtained using multivariable logistic regression. Results: fifty six point seven percent were male. The mean age was 64.17 ± 14.33 years. Cases of hospital-acquired pneumonia associated with stroke accounted for 19, 9 %. Subjects who developed pneumonia were older (68.55 ± 13.51 vs. 63.08 ± 14.36 years, had a lower score in the Glasgow Coma Scale (8.00 ± 2.60 vs. 14.00 ± 2.82, and an increased number of leukocytes at admission (10.888 ± 3.487 vs. 9.233 ± 2.539 × 109/L. The following independent factors were identified: Glasgow Coma Scale ≤ 11 (OR: 26.099; 95 % CI 7.164-85.075, history of chronic obstructive pulmonary disease (OR: 8.896; 95 % CI 1.203-65.779, dysphagia (OR: 7.652; 95 % CI 2.369- 24.720, history of heart failure (OR: 4.583; 95 % CI 1.240- 16.932 and dysarthria/severe motor aphasia (OR: 4.222; 95 % CI 1.374- 12.975. Conclusions: the resulting logistic regression model is valid for predicting post-stroke pneumonia based on data routinely acquired.

  8. [PECULIARITIES OF COMMUNITY-ACQUIRED PNEUMONIA IN CHILDREN WITH NEUROLOGICAL PATHOLOGY].

    Science.gov (United States)

    Zubarenko, O; Kopiyka, G; Kravchenko, T; Koval, L; Gurienko, K

    2017-06-01

    Neurological disorders in children highly affect the course of pneumonia, its outcome and the development of possible complications. The aim of the study was to reveal clinical and paraclinical features of community-acquired pneumonia in younger children with neurologic pathology infantile cerebral palsy. Under observation were 37 children with community-acquired pneumonia aged 1 to 3 years that suffered from spastic forms of infantile cerebral palsy. The comparison group consisted of 30 children with community-acquired pneumonia without any concomitant neurological pathology. The age of the children in the comparison and study groups was the same. The results of the study show that the presence of infantile cerebral palsy allow to relate the child to the risk group of respiratory pathology development. The course of community-acquired pneumonia in children affected by infantile cerebral palsy is characterized by rapid progression of symptoms and severity of the condition, and the clinical picture also has a number of characteristic features. Thus, cough, local physical data, classical laboratory signs of inflammation in the form of leukocytosis with neutrophil shift were noticed significantly less often in children with infantile cerebral palsy. The debut of the disease was often accompanied by bronchial obstruction, the inflammatory process was localized in the lower parts of the lungs and often matched the side of the neurologically affected part of the body. Children with cerebral palsy required a longer hospital-stay and a prolonged course of antibiotic therapy. Therefore, the risk of pneumonia in children with infantile cerebral palsy should be taken into account at the primary stage of medical care for the creation of preventive programs.

  9. Socio-emotional behaviour following acquired brain injury

    OpenAIRE

    May, Michelle

    2014-01-01

    Introduction: Socio-emotional behaviour difficulties following acquired brain injury (ABI) have been shown to have a persisting negative effect on quality of life. A systematic review was carried out to look at the efficacy and clinical effectiveness of available psychological treatments for socio-emotional behaviour difficulties following ABI. Research was carried out to further understand socio-emotional behaviour by exploring the possible underlying cognitive aspects (specif...

  10. Rare acquired hemostatic disorders as a cause of prolonged bleeding – presentation of two case reports

    Directory of Open Access Journals (Sweden)

    Polona Novak

    2011-10-01

    Full Text Available BACKGROUNDPatient’s anamnesis is of primary importance in determining hemostatic disorders. Based on anamnestic data, a clinician may decide for further laboratory tests. We must consider an acquired bleeding disorder in a patient with unusual, unexpected and prolonged bleeding episodes. In this article we will describe two rare acquired hemostatic disordes.TWO CASE REPORTSOur first patient had prolonged bleeding after a pacemaker implantation. We diagnosed him with acquired von Willebrand syndrome. Further on, the patient required a planned surgical procedure. In our second case we describe a patient with unusual and excessive skin bruising and prolonged bleeding after teeth extractions. He was diagnosed with acquired hemophilia.CONCLUSIONIn the assessment of a patient with a potential acquired bleeding disorder we must first rule out the most common causes, such as iatrogenic ones. But, because of high morbidity and mortality rates, we must also be aware of some rare acquired bleeding disorders. In case of uncertainty, we should consult with a hematologist.

  11. 30 CFR 879.14 - Management of acquired land.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 3 2010-07-01 2010-07-01 false Management of acquired land. 879.14 Section 879.14 Mineral Resources OFFICE OF SURFACE MINING RECLAMATION AND ENFORCEMENT, DEPARTMENT OF THE INTERIOR ABANDONED MINE LAND RECLAMATION ACQUISITION, MANAGEMENT, AND DISPOSITION OF LANDS AND WATER § 879.14...

  12. Childhood acquired heart disease in Nigeria: an echocardiographic ...

    African Journals Online (AJOL)

    Introduction: Acquired heart diseases (AHD) are not uncommon in children. The current multi-center study aims to provide a more representative data of AHD in Nigeria. Methods: Over 42 months, children referred for echocardiographic evaluation who had confirmed AHD in three centers in Nigeria were recruited. The data ...

  13. Sexual conflict explains the extraordinary diversity of mechanisms regulating mitochondrial inheritance.

    Science.gov (United States)

    Radzvilavicius, Arunas L; Lane, Nick; Pomiankowski, Andrew

    2017-10-26

    Mitochondria are predominantly inherited from the maternal gamete, even in unicellular organisms. Yet an extraordinary array of mechanisms enforce uniparental inheritance, which implies shifting selection pressures and multiple origins. We consider how this high turnover in mechanisms controlling uniparental inheritance arises using a novel evolutionary model in which control of mitochondrial transmission occurs either during spermatogenesis (by paternal nuclear genes) or at/after fertilization (by maternal nuclear genes). The model treats paternal leakage as an evolvable trait. Our evolutionary analysis shows that maternal control consistently favours strict uniparental inheritance with complete exclusion of sperm mitochondria, whereas some degree of paternal leakage of mitochondria is an expected outcome under paternal control. This difference arises because mito-nuclear linkage builds up with maternal control, allowing the greater variance created by asymmetric inheritance to boost the efficiency of purifying selection and bring benefits in the long term. In contrast, under paternal control, mito-nuclear linkage tends to be much weaker, giving greater advantage to the mixing of cytotypes, which improves mean fitness in the short term, even though it imposes a fitness cost to both mating types in the long term. Sexual conflict is an inevitable outcome when there is competition between maternal and paternal control of mitochondrial inheritance. If evolution has led to complete uniparental inheritance through maternal control, it creates selective pressure on the paternal nucleus in favour of subversion through paternal leakage, and vice versa. This selective divergence provides a reason for the repeated evolution of novel mechanisms that regulate the transmission of paternal mitochondria, both in the fertilized egg and spermatogenesis. Our analysis suggests that the widespread occurrence of paternal leakage and prevalence of heteroplasmy are natural outcomes of

  14. Label-acquired magnetorotation for biosensing: An asynchronous rotation assay

    International Nuclear Information System (INIS)

    Hecht, Ariel; Kinnunen, Paivo; McNaughton, Brandon; Kopelman, Raoul

    2011-01-01

    This paper presents a novel application of magnetic particles for biosensing, called label-acquired magnetorotation (LAM). This method is based on a combination of the traditional sandwich assay format with the asynchronous magnetic bead rotation (AMBR) method. In label-acquired magnetorotation, an analyte facilitates the binding of a magnetic label bead to a nonmagnetic solid phase sphere, forming a sandwich complex. The sandwich complex is then placed in a rotating magnetic field, where the rotational frequency of the sandwich complex is a function of the amount of analyte attached to the surface of the sphere. Here, we use streptavidin-coated beads and biotin-coated particles as analyte mimics, to be replaced by proteins and other biological targets in future work. We show this sensing method to have a dynamic range of two orders of magnitude.

  15. Prevalence of Methicillin Resistant Staphylococcus aureus in pyogenic community and hospital acquired skin and soft tissues infections

    International Nuclear Information System (INIS)

    Ahmad, M. K.; Asrar, A.

    2014-01-01

    Objective: To determine the percentage and frequency of Methicillin Resistant Staphylococcus aureus in community and hospital-acquired pyogenic skin and soft tissue infections. Methods: The descriptive cross-sectional study was conducted at the Dermatology Department of Combined Military Hospital, Abbottabad, from June 2009 to March 2010, and comprised 144 community-acquired and 54 hospital-acquired skin and soft tissue infections. Pus swabs from the infected lesions one from each individual were sent to laboratory for culture and sensitivity tests. Methicillin resistance was detected by 1 (mu) g oxacillin disk. Organisms were labelled methicillin-resistant once the inhibition zone for oxocillin was less than 10 mm. Data analysis was done by using SPSS 20. Results: Of the 198 patients in the study, 98(49.5%) were males and 100(50.5%) were females, with an overall mean age of 33.7+-14.8144 years. There were 144(72.72%) community-acquired infections and 54(27.27%) had hospital-acquired infections. Community-acquired Methicillin Resistant Staphylococcus aureus numbered 40(27.8%) and hospital-acquired ones numbered 26(48.1%). Conclusion: Prevalence of Methicillin Resistant Staphylococcus aureus in community and hospital-acquired pyogenic skin and soft tissue infections was high. (author)

  16. A knowledge creation info-structure to acquire and crystallize the tacit knowledge of health-care experts.

    Science.gov (United States)

    Abidi, Syed Sibte Raza; Cheah, Yu-N; Curran, Janet

    2005-06-01

    Tacit knowledge of health-care experts is an important source of experiential know-how, yet due to various operational and technical reasons, such health-care knowledge is not entirely harnessed and put into professional practice. Emerging knowledge-management (KM) solutions suggest strategies to acquire the seemingly intractable and nonarticulated tacit knowledge of health-care experts. This paper presents a KM methodology, together with its computational implementation, to 1) acquire the tacit knowledge possessed by health-care experts; 2) represent the acquired tacit health-care knowledge in a computational formalism--i.e., clinical scenarios--that allows the reuse of stored knowledge to acquire tacit knowledge; and 3) crystallize the acquired tacit knowledge so that it is validated for health-care decision-support and medical education systems.

  17. Etiology and antibiotic susceptibility pattern of community-acquired ...

    African Journals Online (AJOL)

    Community-acquired urinary tract infections occur in individuals not admitted in hospital prior to development of the symptoms of the infection. It occurs mostly in women and caused by Escherichia coli. The aim of this study was to determine the prevalence of urinary tract infection among individuals residing within Jos ...

  18. The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy.

    Science.gov (United States)

    Villaluz, Mel Michel; Lomax, Lysa Boissé; Jadhav, Trupti; Cross, J Helen; Scheffer, Ingrid E

    2018-07-01

    Ketogenic diet therapies have proven efficacy for refractory epilepsy. There are many reports of their use in the genetic developmental and epileptic encephalopathies; however, little attention has been paid as to whether the diet is also effective in individuals with an acquired structural aetiology. We observed remarkable efficacy of the diet in two patients with hypoxic-ischaemic encephalopathy. We then analysed our cases with refractory structural epilepsies of acquired origin to characterize their response to the ketogenic diet. The classical ketogenic diet was implemented with dietary ratios of 3:1 to 4.4:1. Seizure frequency at 1 month, 3 months, 6 months, 1 year, and 2 years was ascertained. A responder was defined as greater than 50% seizure reduction compared to baseline. Seven of the nine patients were responders at 3 months. Somewhat surprisingly we found that the ketogenic diet was effective in patients with a developmental and epileptic encephalopathy due to an acquired structural aetiology. This cohort may not be routinely considered for the ketogenic diet because of their structural and acquired, rather than genetic, basis. The ketogenic diet should be considered early in the management of patients with acquired structural encephalopathies as it can improve seizure control with the potential to improve developmental outcome. The ketogenic diet was effective in children with epilepsy associated with an acquired structural aetiology. © 2018 Mac Keith Press.

  19. Yeasts acquire resistance secondary to antifungal drug treatment by adaptive mutagenesis.

    Directory of Open Access Journals (Sweden)

    David Quinto-Alemany

    Full Text Available Acquisition of resistance secondary to treatment both by microorganisms and by tumor cells is a major public health concern. Several species of bacteria acquire resistance to various antibiotics through stress-induced responses that have an adaptive mutagenesis effect. So far, adaptive mutagenesis in yeast has only been described when the stress is nutrient deprivation. Here, we hypothesized that adaptive mutagenesis in yeast (Saccharomyces cerevisiae and Candida albicans as model organisms would also take place in response to antifungal agents (5-fluorocytosine or flucytosine, 5-FC, and caspofungin, CSP, giving rise to resistance secondary to treatment with these agents. We have developed a clinically relevant model where both yeasts acquire resistance when exposed to these agents. Stressful lifestyle associated mutation (SLAM experiments show that the adaptive mutation frequencies are 20 (S. cerevisiae -5-FC, 600 (C. albicans -5-FC or 1000 (S. cerevisiae--CSP fold higher than the spontaneous mutation frequency, the experimental data for C. albicans -5-FC being in agreement with the clinical data of acquisition of resistance secondary to treatment. The spectrum of mutations in the S. cerevisiae -5-FC model differs between spontaneous and acquired, indicating that the molecular mechanisms that generate them are different. Remarkably, in the acquired mutations, an ectopic intrachromosomal recombination with an 87% homologous gene takes place with a high frequency. In conclusion, we present here a clinically relevant adaptive mutation model that fulfils the conditions reported previously.

  20. Acquired hyperostosis syndrome. Pt. 2

    Energy Technology Data Exchange (ETDEWEB)

    Dihlmann, W.; Hering, L.; Bargon, G.W.

    1988-12-01

    In the second part of this publication, we describe some additional findings in cases of sternocostoclavicular hyperostosis (SCCH). These include focal hyperostosis of the spine, in the pelvis and in the extremities and psoriatric skin lesions and severe forms of acne (acne conglobata, acne fulminans). An analysis of our 13 patients and of the relevant literature indicates that the hyperostosis is due to increased bone metabolism and heterotopic ossification of fibrous tissue and that these are the pathogenic bases of the changes in the axial skeleton, the pelvis and the bones of the extremities. We have suggested a scheme which would categorise the syndrom into complete, incomplete and possibly acquired forms. (orig./GDG).

  1. Community-acquired pneumonia

    International Nuclear Information System (INIS)

    Poetter-Lang, S.; Herold, C.J.

    2017-01-01

    The diagnosis of community-acquired pneumonia (CAP) is often not possible based only on the clinical symptoms and biochemical parameters. For every patient with the suspicion of CAP, a chest radiograph in two planes should be carried out. Additionally, a risk stratification for the decision between outpatient therapy or hospitalization is recommended. Based on the evaluation of the different radiological patterns as well as their extent and distribution, a rough allocation to so-called pathogen groups as well as a differentiation between viral and bacterial infections are possible; however, because different pathogens cause different patterns an accurate correlation is not feasible by relying purely on imaging. The radiological findings serve as proof or exclusion of pneumonia and can also be used to evaluate the extent of the disease (e.g. monolobular, multilobular, unilateral or bilateral). In cases of prolonged disease, suspicion of complications (e.g. pleural effusion or empyema, necrotizing pneumonia or abscess) or comorbid conditions (e.g. underlying pulmonary or mediastinal diseases) computed tomography is an important diagnostic tool in addition to chest radiography. Ultrasound is often used to diagnose pleural processes (e.g. parapneumonic effusion or pleural empyema). (orig.) [de

  2. Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia

    Directory of Open Access Journals (Sweden)

    Jacob D. Kjelland

    2017-01-01

    Full Text Available Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS. Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with an elliptocytosis that had only recently been noted on peripheral smears of his blood. After bone marrow biopsy he was diagnosed with MDS with ring sideroblasts and multilineage dysplasia and acquired elliptocytosis. Here we report a rare case of acquired elliptocytosis cooccurring with MDS with ring sideroblasts and multilineage dysplasia.

  3. An unusual cause of community-acquired pneumonia

    Directory of Open Access Journals (Sweden)

    Jaimie Mittal

    2018-01-01

    Full Text Available We present a case of fatal community-acquired pneumonia (CAP due to Acinetobacter baumannii, which is rarely reported in the northeastern United States. Previously reported cases originate from tropical and subtropical climates, and infection tends to have an aggressive course with a poor outcome. Appropriate antimicrobial therapy is crucial; however, the associated systemic inflammatory response may overwhelm host defenses, especially in patients with certain co-morbidities.

  4. Interventions for treating acute bleeding episodes in people with acquired hemophilia A.

    Science.gov (United States)

    Zeng, Yan; Zhou, Ruiqing; Duan, Xin; Long, Dan; Yang, Songtao

    2014-08-28

    Acquired hemophilia A is a rare bleeding disorder caused by autoantibodies to coagulation factor VIII (FVIII). In most cases, bleeding episodes are spontaneous and severe at presentation. The optimal hemostatic therapy is controversial. To determine the efficacy of hemostatic therapies for acute bleeds in people with acquired hemophilia A; and to compare different forms of therapy for these bleeds. We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2014, Issue 4) and MEDLINE (Ovid) (1948 to 30 April 2014). We searched the conference proceedings of the: American Society of Hematology; European Hematology Association; International Society on Thrombosis and Haemostasis (ISTH); and the European Association for Haemophilia and Allied Disorders (EAHAD) (from 2000 to 30 April 2014). In addition to this we searched clinical trials registers. All randomised controlled trials and quasi-randomised trials of hemostatic therapies for people with acquired hemophilia A, with no restrictions on gender, age or ethnicity. No trials matching the selection criteria were eligible for inclusion. No trials matching the selection criteria were eligible for inclusion. No randomised clinical trials of hemostatic therapies for acquired hemophilia A were found. Thus, we are not able to draw any conclusions or make any recommendations on the optimal hemostatic therapies for acquired hemophilia A based on the highest quality of evidence. GIven that carrying out randomized controlled trials in this field is a complex task, the authors suggest that, while planning randomised controlled trials in which patients can be enrolled, clinicians treating the disease continue to base their choices on alternative, lower quality sources of evidence, which hopefully, in the future, will also be appraised and incorporated in a Cochrane Review.

  5. Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2).

    Science.gov (United States)

    Knoebl, P; Marco, P; Baudo, F; Collins, P; Huth-Kühne, A; Nemes, L; Pellegrini, F; Tengborn, L; Lévesque, H

    2012-04-01

    Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies against coagulation factor VIII and characterized by spontaneous hemorrhage in patients with no previous family or personal history of bleeding. Although data on several AHA cohorts have been collected, limited information is available on the optimal management of AHA. The European Acquired Hemophilia Registry (EACH2) was established to generate a prospective, large-scale, pan-European database on demographics, diagnosis, underlying disorders, bleeding characteristics, treatment and outcome of AHA patients. Five hundred and one (266 male, 235 female) patients from 117 centers and 13 European countries were included in the registry between 2003 and 2008. In 467 cases, hemostasis investigations and AHA diagnosis were triggered by a bleeding event. At diagnosis, patients were a median of 73.9 years. AHA was idiopathic in 51.9%; malignancy or autoimmune diseases were associated with 11.8% and 11.6% of cases. Fifty-seven per cent of the non-pregnancy-related cases were male. Four hundred and seventy-four bleeding episodes were reported at presentation, and hemostatic therapy initiated in 70.5% of patients. Delayed diagnosis significantly impacted treatment initiation in 33.5%. Four hundred and seventy-seven patients underwent immunosuppression, and 72.6% achieved complete remission. Representing the largest collection of consecutive AHA cases to date, EACH2 facilitates the analysis of a variety of open questions in AHA. © 2012 International Society on Thrombosis and Haemostasis.

  6. Prognostic value of severity indicators of nursing-home-acquired pneumonia versus community-acquired pneumonia in elderly patients.

    Science.gov (United States)

    Ugajin, Motoi; Yamaki, Kenichi; Hirasawa, Natsuko; Kobayashi, Takanori; Yagi, Takeo

    2014-01-01

    The credibility of prognostic indicators in nursing-home-acquired pneumonia (NHAP) is not clear. We previously reported a simple prognostic indicator in community-acquired pneumonia (CAP): blood urea nitrogen to serum albumin (B/A) ratio. This retrospective study investigated the prognostic value of severity indicators in NHAP versus CAP in elderly patients. Patients aged ≥65 years and hospitalized because of NHAP or CAP within the previous 3 years were enrolled. Demographics, coexisting illnesses, laboratory and microbiological findings, and severity scores (confusion, urea, respiratory rate, blood pressure, and age ≥65 [CURB-65] scale; age, dehydration, respiratory failure, orientation disturbance, and pressure [A-DROP] scale; and pneumonia severity index [PSI]) were retrieved from medical records. The primary outcome was mortality within 28 days of admission. In total, 138 NHAP and 307 CAP patients were enrolled. Mortality was higher in NHAP (18.1%) than in CAP (4.6%) (Pscale, 0.69 for the CURB-65 scale, 0.67 for the PSI class, and 0.65 for the B/A ratio. The area under the curve in CAP was 0.73 for the A-DROP scale, 0.76 for the CURB-65 scale, 0.81 for the PSI class, and 0.83 for the B/A ratio. Patient mortality was greater in NHAP than in CAP. Patient characteristics, coexisting illnesses, and detected pathogens differed greatly between NHAP and CAP. The existing severity indicators had less prognostic value for NHAP than for CAP.

  7. Features of Acquired Immunity in Malaria Endemic Areas

    Indian Academy of Sciences (India)

    ... of Acquired Immunity in Malaria Endemic Areas. Adults (>15 years) do not suffer from the disease. Concomitant presence of low levels of P. falciparum in immune persons. This immunity is lost within 6-12 months if a person moves out of endemic area. Antibodies mediate protection for the asexual stages of P. falciparum.

  8. Assessment of acquired capability for suicide in clinical practice.

    Science.gov (United States)

    Rimkeviciene, Jurgita; Hawgood, Jacinta; O'Gorman, John; De Leo, Diego

    2016-12-01

    The Interpersonal Psychological Theory of suicide proposes that the interaction between Thwarted Belongingness, Perceived Burdensomeness, and Acquired Capability for Suicide (ACS) predicts proximal risk of death by suicide. Instruments to assess all three constructs are available. However, research on the validity of one of them, the acquired capability for suicide scale (ACSS), has been limited, especially in terms of its clinical relevance. This study aimed to explore the utility of the different versions of the ACSS in clinical assessment. Three versions of the scale were investigated, the full 20-item version, a 7-item version and a single item version representing self-perceived capability for suicide. In a sample of patients recruited from a clinic specialising in the treatment of suicidality and in a community sample, all versions of the ACSS were found to show reasonable levels of reliability and to correlate as expected with reports of suicidal ideation, self-harm, and attempted suicide. The item assessing self-perceived acquired capacity for suicide showed highest correlations with all levels of suicidal behaviour. However, no version of the ACSS on its own showed a capacity to indicate suicide attempts in the combined sample. It is concluded that the versions of the scale have construct validity, but their clinical utility is limited. An assessment using a single item on self-perceived ACS outperforms the full and shortened versions of ACSS in clinical settings and can be recommended with caution for clinicians interested in assessing this characteristic.

  9. Does the mode of plastid inheritance influence plastid genome architecture?

    Directory of Open Access Journals (Sweden)

    Kate Crosby

    Full Text Available Plastid genomes show an impressive array of sizes and compactnesses, but the forces responsible for this variation are unknown. It has been argued that species with small effective genetic population sizes are less efficient at purging excess DNA from their genomes than those with large effective population sizes. If true, one may expect the primary mode of plastid inheritance to influence plastid DNA (ptDNA architecture. All else being equal, biparentally inherited ptDNAs should have a two-fold greater effective population size than those that are uniparentally inherited, and thus should also be more compact. Here, we explore the relationship between plastid inheritance pattern and ptDNA architecture, and consider the role of phylogeny in shaping our observations. Contrary to our expectations, we found no significant difference in plastid genome size or compactness between ptDNAs that are biparentally inherited relative to those that are uniparentally inherited. However, we also found that there was significant phylogenetic signal for the trait of mode of plastid inheritance. We also found that paternally inherited ptDNAs are significantly smaller (n = 19, p = 0.000001 than those that are maternally, uniparentally (when isogamous, or biparentally inherited. Potential explanations for this observation are discussed.

  10. 26 CFR 53.4943-5 - Present holdings acquired by trust or a will.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 17 2010-04-01 2010-04-01 false Present holdings acquired by trust or a will... Business Holdings § 53.4943-5 Present holdings acquired by trust or a will. (a) Interests to which section... terms of a will executed on or before May 26, 1969. (3) Certain revocable trusts. If an interest in a...

  11. Acquired factor VIII inhibitor syndrome: A rare cause of hematuria

    Directory of Open Access Journals (Sweden)

    Muthuvel Seral Kannan

    2015-01-01

    Full Text Available A 50-year-old woman presented with gross hematuria for 1 month. Clinical examinations, laboratory investigations, ultrasound and contrast computed tomography were normal, except anemia. Cystoscopy revealed bloody efflux from the right side. Retrograde pyelogram showed filling defect in the renal pelvis and biopsy was inconclusive. Renal angiogram was normal. She developed ecchymosis on the right thigh and arm with elevated activated partial thromboplastin time. The partial thromboplastin time correction study and Bethesda study confirmed the presence of acquired factor VIII inhibitor (acquired hemophilia. With flexible ureterorenoscopy, the mass in the renal pelvis was removed and its histopathology revealed clotted blood. The patient was subsequently managed with steroids and Factor eight inhibitor bypass activity.

  12. Microbe-Induced Inflammatory Signals Triggering Acquired Bone Marrow Failure Syndromes.

    Science.gov (United States)

    Espinoza, J Luis; Kotecha, Ritesh; Nakao, Shinji

    2017-01-01

    Acquired bone marrow failure syndromes encompass a unique set of disorders characterized by a reduction in the effective production of mature cells by the bone marrow (BM). In the majority of cases, these syndromes are the result of the immune-mediated destruction of hematopoietic stem cells or their progenitors at various stages of differentiation. Microbial infection has also been associated with hematopoietic stem cell injury and may lead to associated transient or persistent BM failure, and recent evidence has highlighted the potential impact of commensal microbes and their metabolites on hematopoiesis. We summarize the interactions between microorganisms and the host immune system and emphasize how they may impact the development of acquired BM failure.

  13. Acquired pulmonary artery stenosis in four dogs.

    Science.gov (United States)

    Scansen, Brian A; Schober, Karsten E; Bonagura, John D; Smeak, Daniel D

    2008-04-15

    4 dogs with acquired pulmonary artery stenosis (PAS) were examined for various clinical signs. One was a mixed-breed dog with congenital valvular PAS that subsequently developed peripheral PAS, one was a Golden Retriever with pulmonary valve fibrosarcoma, one was a Pembroke Welsh Corgi in which the left pulmonary artery had inadvertently been ligated during surgery for correction of patent ductus arteriosus, and one was a Boston Terrier with a heart-base mass compressing the pulmonary arteries. All 4 dogs were evaluated with 2-dimensional and Doppler echocardiography to characterize the nature and severity of the stenoses; other diagnostic tests were also performed. The mixed-breed dog with valvular and peripheral PAS was euthanized, surgical resection of the pulmonic valve mass was performed in the Golden Retriever, corrective surgery was performed on the Pembroke Welsh Corgi with left pulmonary artery ligation, and the Boston Terrier with the heart-base mass was managed medically. Acquired PAS in dogs may manifest as a clinically silent heart murmur, syncope, or right-sided heart failure. The diagnosis is made on the basis of imaging findings, particularly results of 2-dimensional and Doppler echocardiography. Treatment may include surgical, interventional, or medical modalities and is targeted at resolving the inciting cause.

  14. Software for Acquiring Image Data for PIV

    Science.gov (United States)

    Wernet, Mark P.; Cheung, H. M.; Kressler, Brian

    2003-01-01

    PIV Acquisition (PIVACQ) is a computer program for acquisition of data for particle-image velocimetry (PIV). In the PIV system for which PIVACQ was developed, small particles entrained in a flow are illuminated with a sheet of light from a pulsed laser. The illuminated region is monitored by a charge-coupled-device camera that operates in conjunction with a data-acquisition system that includes a frame grabber and a counter-timer board, both installed in a single computer. The camera operates in "frame-straddle" mode where a pair of images can be obtained closely spaced in time (on the order of microseconds). The frame grabber acquires image data from the camera and stores the data in the computer memory. The counter/timer board triggers the camera and synchronizes the pulsing of the laser with acquisition of data from the camera. PIVPROC coordinates all of these functions and provides a graphical user interface, through which the user can control the PIV data-acquisition system. PIVACQ enables the user to acquire a sequence of single-exposure images, display the images, process the images, and then save the images to the computer hard drive. PIVACQ works in conjunction with the PIVPROC program which processes the images of particles into the velocity field in the illuminated plane.

  15. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

    Science.gov (United States)

    Rivolta, Carlo; Berson, Eliot L; Dryja, Thaddeus P

    2002-11-01

    To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP). Direct DNA sequencing of the USH2A coding region and microsatellite analysis of polymorphic markers from chromosome 1 and other chromosomes. A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Further evaluation with microsatellite markers revealed that the patient had inherited 2 copies of chromosome 1 from her father and none from her mother. The paternally derived chromosome 1's were heteroallelic from the centromere of chromosome 1 to the proximal short and long arms. The distal regions of the short and long arms of chromosome 1 were homoallelic, including the region of 1q with the mutant USH2A allele. This genetic pattern is compatible with a phenomenon of uniparental primary heterodisomy with regions of homozygosity arising through a nondisjunction event during paternal meiosis I and subsequent trisomy rescue or gamete complementation. A paternal second cousin of the patient also had RP and also had an identical heterozygous mutation in the USH2A gene in the same codon. However, the analysis of an isocoding polymorphism 20 base pairs away and closely linked microsatellite markers in the patient and family members indicated that the 2 mutant alleles are unlikely to be identical by descent and that the 2 relatives fortuitously had RP and a mutation in the same codon of the USH2A gene. This family illustrates that recessive RP without hearing loss can rarely be inherited from only 1 unaffected carrier parent in a nonmendelian manner. The genetic counseling of families with recessively inherited eye diseases must take into consideration the possibility that an unaffected heterozygous carrier can have an affected offspring homozygous for the same mutation, even if the carrier's spouse has wild-type alleles

  16. Sequential Therapy of Community-Acquired Pneumonia in Children

    Directory of Open Access Journals (Sweden)

    I.A. Karimdzhanov

    2014-04-01

    Full Text Available Aim of the study — to examine the effectiveness of sequential therapy of injectable and oral forms cephalosporins of II generation, cefuroxime sodium and cefprozil, in children with acute community-acquired pneumonia. We examined 53 child patients aged 6 months — 14 years with acute community-acquired pneumonia. Patients were divided into 2 groups: 1st group — 26 patients who treated with cefuroxime sodium intramuscularly, and 2nd — 27 patients who treated with cefuroxime sodium in first 3 days and then from the 4th day — with cefprozil suspension orally. Both groups of patients were comparable by forms and course of pneumonia. In the clinic to all patients were conducted conventional clinical and laboratory investigations. Complex therapy was not different in both groups. Efficacy of treatment was assessed in dynamics. When comparing the effectiveness of two antibiotic regimens (cefuroxime sodium parenterally and sequential regimen with replacement by cefprozil orally there were no differences in the dynamics of clinical course, laboratory and radiological data. Finding of the conducted investigations before treatment showed that majority of patients had clinical and radiological evidence of pneumonia: fever, cough, shortness of breath, tachycardia, physical and radiological changes in the lungs. Evaluation of treatment efficacy showed that by the end of treatment in both groups of patients there was a positive clinical and radiological dynamics of the disease, the body temperature returned to normal, symptoms of intoxication, physical changes in the lungs disappeared, focal and infiltrative changes disappeared completely. Thus, sequential therapy with cephalosporins of II generation, cefuroxime and cefprozil, in the treatment of acute community-acquired pneumonia in children is a quite effective and safe method with good tolerability and no side effects.

  17. Effect of storage on radiation and antibiotic acquired stability in bacilli

    International Nuclear Information System (INIS)

    Tawfik, Z.S.

    1991-01-01

    The properties of two highly radioresistant bacterial strains namely B. laterosporous and B. firmus isolated, three years ago, from the water shielding the industrial Co-60 source of NCRRT Egypt were studied. The results showed that the studied isolates had lost their resistance to gamma irradiation as compared with their properties acquired at the time of isolation. The sensitivity test of these isolates to some antibiotics and sulpha drugs was also investigated, and was compared with tests performed on the same species isolated from tap water. The pronounced resistance of these isolates to some antibiotics acquired three years ago, had been lost by storage except for the case of the drug chemotrim. The results indicated that the acquired resistivity to both gamma irradiation and antibiotics due to the chronic exposure to gamma radiation is not stable. It is concluded that the genes controlling both phenomena, in the studied strains, fall into broad categories and the case might be a repair mechanism in the DNA during successive reproduction.2 fig., 2 tab

  18. Preserved memory in retrograde amnesia: sparing of a recently acquired skill.

    Science.gov (United States)

    Squire, L R; Cohen, N J; Zouzounis, J A

    1984-01-01

    Recent work with amnesic patients has revealed a preserved capacity for acquiring and retaining new skills despite otherwise profound anterograde impairment. In addition to their anterograde impairment, amnesic patients also have retrograde memory loss for some information acquired prior to the amnesic event. The present experiment addresses for the first time the question of whether preservation of memory for skills is also a feature memory impairment. To determine the susceptibility of a recently learned skill to retrograde amnesia, we taught patients to read mirror-reversed words before and during the early part of a prescribed course of electroconvulsive therapy (ECT) and then tested retention of the skill after the course of treatment had been completed. Patients prescribed bilateral or right unilateral ECT and depressed patients not receiving ECT acquired the mirror-reading skill at the same rate and then retained it at the same level. For the patients prescribed ECT, intact learning and retention of the skill occurred despite retrograde amnesia for the previous testing sessions and for the words that they had read previously.

  19. Residual fMRI sensitivity for identity changes in acquired prosopagnosia.

    Science.gov (United States)

    Fox, Christopher J; Iaria, Giuseppe; Duchaine, Bradley C; Barton, Jason J S

    2013-01-01

    While a network of cortical regions contribute to face processing, the lesions in acquired prosopagnosia are highly variable, and likely result in different combinations of spared and affected regions of this network. To assess the residual functional sensitivities of spared regions in prosopagnosia, we designed a rapid event-related functional magnetic resonance imaging (fMRI) experiment that included pairs of faces with same or different identities and same or different expressions. By measuring the release from adaptation to these facial changes we determined the residual sensitivity of face-selective regions-of-interest. We tested three patients with acquired prosopagnosia, and all three of these patients demonstrated residual sensitivity for facial identity changes in surviving fusiform and occipital face areas of either the right or left hemisphere, but not in the right posterior superior temporal sulcus. The patients also showed some residual capabilities for facial discrimination with normal performance on the Benton Facial Recognition Test, but impaired performance on more complex tasks of facial discrimination. We conclude that fMRI can demonstrate residual processing of facial identity in acquired prosopagnosia, that this adaptation can occur in the same structures that show similar processing in healthy subjects, and further, that this adaptation may be related to behavioral indices of face perception.

  20. Residual fMRI sensitivity for identity changes in acquired prosopagnosia

    Directory of Open Access Journals (Sweden)

    Christopher J Fox

    2013-10-01

    Full Text Available While a network of cortical regions contribute to face processing, the lesions in acquired prosopagnosia are highly variable, and likely result in different combinations of spared and affected regions of this network. To assess the residual functional sensitivities of spared regions in prosopagnosia, we designed a rapid event-related functional magnetic resonance imaging (fMRI experiment that included pairs of faces with same or different identities and same or different expressions. By measuring the release from adaptation to these facial changes we determined the residual sensitivity of face-selective regions-of-interest. We tested three patients with acquired prosopagnosia, and all three of these patients demonstrated residual sensitivity for facial identity changes in surviving fusiform and occipital face areas of either the right or left hemisphere, but not in the right posterior superior temporal sulcus. The patients also showed some residual capabilities for facial discrimination with normal performance on the Benton Facial Recognition Test, but impaired performance on more complex tasks of facial discrimination. We conclude that fMRI can demonstrate residual processing of facial identity in acquired prosopagnosia, that this adaptation can occur in the same structures that show similar processing in healthy subjects, and further, that this adaptation may be related to behavioral indices of face perception.

  1. The Host Response in Patients with Sepsis Developing Intensive Care Unit-acquired Secondary Infections.

    Science.gov (United States)

    van Vught, Lonneke A; Wiewel, Maryse A; Hoogendijk, Arie J; Frencken, Jos F; Scicluna, Brendon P; Klein Klouwenberg, Peter M C; Zwinderman, Aeilko H; Lutter, Rene; Horn, Janneke; Schultz, Marcus J; Bonten, Marc M J; Cremer, Olaf L; van der Poll, Tom

    2017-08-15

    Sepsis can be complicated by secondary infections. We explored the possibility that patients with sepsis developing a secondary infection while in the intensive care unit (ICU) display sustained inflammatory, vascular, and procoagulant responses. To compare systemic proinflammatory host responses in patients with sepsis who acquire a new infection with those who do not. Consecutive patients with sepsis with a length of ICU stay greater than 48 hours were prospectively analyzed for the development of ICU-acquired infections. Twenty host response biomarkers reflective of key pathways implicated in sepsis pathogenesis were measured during the first 4 days after ICU admission and at the day of an ICU-acquired infection or noninfectious complication. Of 1,237 admissions for sepsis (1,089 patients), 178 (14.4%) admissions were complicated by ICU-acquired infections (at Day 10 [6-13], median with interquartile range). Patients who developed a secondary infection showed higher disease severity scores and higher mortality up to 1 year than those who did not. Analyses of biomarkers in patients who later went on to develop secondary infections revealed a more dysregulated host response during the first 4 days after admission, as reflected by enhanced inflammation, stronger endothelial cell activation, a more disturbed vascular integrity, and evidence for enhanced coagulation activation. Host response reactions were similar at the time of ICU-acquired infectious or noninfectious complications. Patients with sepsis who developed an ICU-acquired infection showed a more dysregulated proinflammatory and vascular host response during the first 4 days of ICU admission than those who did not develop a secondary infection.

  2. Cosmic ray runs acquired with ATLAS muon stations

    CERN Multimedia

    Cerutti, F.

    Starting in the fall 2005 several cosmic ray runs have been acquired in the ATLAS pit with six muon stations. These were three large outer and three large middle chambers of the feet sector (sector 13) that have been readout in the ATLAS cavern. In the first data taking period the trigger was based on two large scintillators (~300x30 cm2) positioned in sector 13 just below the large chambers. In this first run the precision chambers (the Monitored Drift Tubes) were operated in a close to final configuration. Typical trigger rates with this setup were of the order of 1 Hz. Several data sets of 10k events were acquired with final electronics up to the muon ROD and analysed with ATHENA-based software. These data allowed the first checks of the functionality and efficiency of the MDT stations in the ATLAS pit and the first measurement of the FE electronics noise in the ATLAS environment. A few event were also collected in a combined run with the TILE barrel calorimeter. An event display of a cosmic ray a...

  3. Cancer resistance as an acquired and inheritable trait

    DEFF Research Database (Denmark)

    Koch, Janne; Hau, Jann; Jensen, Henrik Elvang

    2014-01-01

    AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer c...... of the resistance is unknown but may involve epigenetic mechanisms. Other examples of inheritability of acquired phenotypic changes exist but, to our knowledge, this is the first demonstration of acquired, inherited cancer resistance.......AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer...... cells in BALB/c mice was induced by immunization with inactivated S180 cancer cells. The immunization was performed by either frozen/thawed or irradiated cancer cells or cell-free ascitic fluid (CFAF). RESULTS: In all instances the induced resistance was demonstrated to be inheritable. The phenotype...

  4. Guiding therapy and adjunctive treatment in community-acquired pneumonia

    NARCIS (Netherlands)

    Spoorenberg, S.M.C.

    2018-01-01

    Background: Despite the availability of effective antibiotics and vaccines, community-acquired pneumonia (CAP) remains the cause of significant morbidity and mortality worldwide.A major problem is that in absence of full spectrum rapid microbiology diagnostics, the antibiotic treatment at start is

  5. Brucella abortus infection acquired in microbiology laboratories.

    Science.gov (United States)

    Fiori, P L; Mastrandrea, S; Rappelli, P; Cappuccinelli, P

    2000-05-01

    We report an outbreak of laboratory-acquired Brucella abortus infection originating in the accidental breakage of a centrifuge tube. A total of 12 laboratory workers were infected (attack rate of 31%), with an incubation time ranging from 6 weeks to 5 months. Antibody titers were evaluated weekly in all personnel exposed, allowing the diagnosis of the infection in most cases before the onset of clinical symptoms, so that specific therapy could be administrated.

  6. CMS Nonpayment Policy, Quality Improvement, and Hospital-Acquired Conditions: An Integrative Review.

    Science.gov (United States)

    Bae, Sung-Heui

    This integrative review synthesized evidence on the consequences of the Centers for Medicare & Medicaid Services (CMS) nonpayment policy on quality improvement initiatives and hospital-acquired conditions. Fourteen articles were included. This review presents strong evidence that the CMS policy has spurred quality improvement initiatives; however, the relationships between the CMS policy and hospital-acquired conditions are inconclusive. In future research, a comprehensive model of implementation of the CMS nonpayment policy would help us understand the effectiveness of this policy.

  7. Transfer of Juggling Skills Acquired in a Virtual Environment

    DEFF Research Database (Denmark)

    Hauge, Alex Patrick; Kragegaard, Christian Skriver; Kjæhr, Emil Bering

    2013-01-01

    This paper explores whether motoric skills acquired within a virtual training environment can be successfully transferred to the real world by comparing a virtual environment with a traditional learning environment. Specifically, a system for learning juggling with virtual balls was designed with...

  8. Predictors of Outcome following Acquired Brain Injury in Children

    Science.gov (United States)

    Johnson, Abigail R.; DeMatt, Ellen; Salorio, Cynthia F.

    2009-01-01

    Acquired brain injury (ABI) in children and adolescents can result from multiple causes, including trauma, central nervous system infections, noninfectious disorders (epilepsy, hypoxia/ischemia, genetic/metabolic disorders), tumors, and vascular abnormalities. Prediction of outcomes is important, to target interventions, allocate resources,…

  9. Screening of a clinically and biochemically diagnosed SOD patient ...

    African Journals Online (AJOL)

    Mohamad-Reza Aghanoori

    2015-07-22

    Jul 22, 2015 ... The parents of this case were maternal first-cousins (mother ..... of sulfite oxidation in · perfused rat liver; interaction of sulfite oxidase with the mito- ... parental disomy of chromosome 12 in a patient with isolated · sulfite oxidase ...

  10. Knowledge transfer process of Brazilian multinationals: comparing acquired subsidiaries to the greenfield ones

    Directory of Open Access Journals (Sweden)

    Natacha Bertoia Silva

    2012-07-01

    Full Text Available The main purpose of this study was to explore the knowledge transfer process between the subsidiaries and the headquarter of Brazilian multinationals, and to identify the most used mechanisms for transferring knowledge. This paper also aims to point out existing barriers in this process, comparing acquired subsidiaries to the greenfield ones. International studies have shown differences in the process of knowledge transfer due to the origin of foreign units (entry mode. We surveyed in 2006 and 2007 a sample of 66 Brazilian subsidiaries of multinationals with overseas activities. As a result, the knowledge transfer from the headquarter to the subsidiary has occurred through meetings with top executives and the reception of Brazilian executives in both types of units. The barriers to knowledge transfer are bland, being clearer in acquired subsidiaries. Cultural resistance is the most prominent. When we focus on the acquired units, the hierarchical structure is seen as a barrier, probably reflecting the centralized attitude by the headquarters. At the same time, the lack of incentives for sharing knowledge is more evident in greenfield units. Also, the syndrome of not invented here is a perceived barrier by acquired units.

  11. The role of acquired immunity and periodontal disease progression.

    Science.gov (United States)

    Teng, Yen-Tung A

    2003-01-01

    Our understanding of the pathogenesis in human periodontal diseases is limited by the lack of specific and sensitive tools or models to study the complex microbial challenges and their interactions with the host's immune system. Recent advances in cellular and molecular biology research have demonstrated the importance of the acquired immune system not only in fighting the virulent periodontal pathogens but also in protecting the host from developing further devastating conditions in periodontal infections. The use of genetic knockout and immunodeficient mouse strains has shown that the acquired immune response-in particular, CD4+ T-cells-plays a pivotal role in controlling the ongoing infection, the immune/inflammatory responses, and the subsequent host's tissue destruction. In particular, studies of the pathogen-specific CD4+ T-cell-mediated immunity have clarified the roles of: (i) the relative diverse immune repertoire involved in periodontal pathogenesis, (ii) the contribution of pathogen-associated Th1-Th2 cytokine expressions in periodontal disease progression, and (iii) micro-organism-triggered periodontal CD4+ T-cell-mediated osteoclastogenic factor, 'RANK-L', which is linked to the induction of alveolar bone destruction in situ. The present review will focus on some recent advances in the acquired immune responses involving B-cells, CD8+ T-cells, and CD4+ T-cells in the context of periodontal disease progression. New approaches will further facilitate our understanding of their underlying molecular mechanisms that may lead to the development of new treatment modalities for periodontal diseases and their associated complications.

  12. System Acquires Data On Reactivities Of Foams

    Science.gov (United States)

    Walls, Joe T.

    1994-01-01

    Data-acquisition and -plotting system, called DAPS(TM), developed enabling accurate and objective determination of physical properties related to reactivities of polyurethane and polyisocyanurate foams. Automated, computer-controlled test apparatus that acquires data on rates of rise, rise profiles, exothermic temperatures, and internal pressures of foams prepared from both manual and machine-mixed batches. Data used to determine minute differences between reaction kinetics and exothermic profiles of foam formulations, properties of end products which are statistically undifferentiated.

  13. A Danish national strategy for treatment and rehabilitation after acquired brain injury

    DEFF Research Database (Denmark)

    Engberg, Aase W

    2007-01-01

    This study describes the establishment of a Danish national strategy for treatment and rehabilitation of acquired brain injury, particularly traumatic brain injury, in 1997. The vision was to create a system of tax-financed continuous treatment, restoration of function, and outpatient rehabilitat......This study describes the establishment of a Danish national strategy for treatment and rehabilitation of acquired brain injury, particularly traumatic brain injury, in 1997. The vision was to create a system of tax-financed continuous treatment, restoration of function, and outpatient...

  14. Perception of using group buying sites to acquire tourist services cou-pons

    OpenAIRE

    Luiz Mendes Filho; Vanessa Araújo Jorge; Otávio Bezerra de Sena Júnior

    2016-01-01

    Technologies brought new forms of business as in the case of group buying sites, which are basically a way to sell on the Internet that allows consumers to buy goods and services at lower prices. This study analyzed the travelers’ perception of the use of group buying sites to acquire tourist services coupons. The research presents a quantitative-exploratory approach using the Technology Acceptance Model to investigate the use of group buying sites to acquire tourist services coupons during a...

  15. Surveillance for Travel and Domestically Acquired Multidrug-Resistant Human Shigella Infections-Pennsylvania, 2006-2014.

    Science.gov (United States)

    Li, Yu Lung; Tewari, Deepanker; Yealy, Courtney C; Fardig, David; M'ikanatha, Nkuchia M

    2016-01-01

    Shigellosis is a leading cause of enteric infections in the United States. We compared antimicrobial resistance in Shigella infections related to overseas travel (travel-associated) and in those acquired domestically by analyzing antimicrobial resistance patterns, geographic distributions, and pulsed-field gel electrophoresis (PFGE) patterns. We tested samples (n = 204) from a collection of isolates recovered from patients in Pennsylvania between 2006 and 2014. Isolates were grouped into travel- and non-travel-associated categories. Eighty-one (79.4%) of the Shigella isolates acquired during international travel were resistant to multiple antibiotics compared to 53 (52.1%) of the infections transmitted in domestic settings. A majority (79.4%) of isolates associated with international travel demonstrated resistance to aminoglycosides and tetracyclines, whereas 47 (46.1%) of the infections acquired domestically were resistant to tetracycline. Almost all isolates (92.2%) transmitted in domestic settings were resistant to aminoglycosides, and 5 isolates from adult male patients were resistant to azithromycin, a drug often used for empiric treatment of severe shigellosis. Twenty (19.6%) isolates associated with illnesses acquired during overseas travel in 4 countries were resistant to quinolones. One S. sonnei PFGE pattern was traced to a multidrug-resistant isolate acquired overseas that had caused a multistate outbreak of shigellosis, suggesting global dissemination of a drug-resistant species. Resistance to certain drugs-for example, tetracycline-increased in both overseas- and domestic-acquired infections during the study period. The prevalence of resistance to macrolides (azithromycin) and third-generation cephalosporins (ceftriaxone) was less than 1%; however, efforts to better monitor changes in drug resistance over time combined with increased antimicrobial stewardship are essential at the local, national, and global levels.

  16. Strategies to improve clinical management of community-acquired pneumonia

    NARCIS (Netherlands)

    Meijvis, S.C.A.

    2012-01-01

    Despite advances during the last few decades in the prevention, diagnosis and treatment of community-acquired pneumonia (CAP), its incidence remains high. In this thesis, strategies are described for improvement of the quality of clinical management in patients with pneumonia and for the reduction

  17. The impact of blood glucose on community-acquired pneumonia

    DEFF Research Database (Denmark)

    Jensen, Andreas Vestergaard; Egelund, Gertrud Baunbæk; Andersen, Stine Bang

    2017-01-01

    Hyperglycaemia is common in patients with community-acquired pneumonia (CAP) and is a predictor of severe outcomes. Data are scarce regarding whether this association is affected by diabetes mellitus (DM) and also regarding its importance for severe outcomes in hospital. We determined the impact...

  18. 'Atypical' bacteria are a common cause of community-acquired ...

    African Journals Online (AJOL)

    Objectives. To assess the proportion of cases of community· acquired pneumonia caused by 'atypical' bacteria, inclUding the recently discovered Chlamydia pneumoniae, and to compare the clinical, radiographic and laboratory features of patients with and without 'atypical' bacteria. Methods. A prospective serological ...

  19. Independent radiographic prognostic factors in patients with hospital-treated community-acquired pneumonia

    International Nuclear Information System (INIS)

    Wilhelm, K.; Textor, J.; Schild, H.; Ewig, S.; Luederitz, B.; Krollmann, G.

    1999-01-01

    Purpose: To evaluate the independent prognostic impact of the chest radiograph for mortality from community-acquired pneumonia requiring hospitalization. Methods: Chest radiographs of 67 patients with hospital-treated community-acquired pneumonia were analyzed with regard to the prognostic implications of radiographic patterns, extent and density of infiltrates, and its evolution during treatment. Results: Non-survivors had a significantly higher extent of infiltrates (p=0.008), density of infiltrates (p=0.05), and radiographic spread during follow-up within 48-72 hours (p=0.0001). In multivariate analysis, persistent or progressive infiltrates were associated with a 47fold increase, and persistent or progressive density of infiltrates with an 18fold increase in risk of mortality. The presence of both parameters could correctly predict 96% of survivors and 90% of non-survivors. Conclusions: The chest radiograph is an independent predictor of the severity of pneumonia. Both persistent or progressive infiltrates and persistent or progressive density of infiltrates are independently associated with mortality from community-acquired pneumonia. (orig.) [de

  20. Interleukin-2 and Interleukin-8 Gene Polymorphisms and Acquired Aplastic Anemia Risk in a Chinese Population.

    Science.gov (United States)

    Zhang, Xuejie; Lin, Shengyun; Yang, Yan; Rong, Liucheng; He, Guangsheng; He, Hailong; Xue, Yao; Fang, Yongjun; Wang, Yaping

    2017-01-01

    Cytokines IL-2 and IL-8 both participate in immune regulation. However, the relationship between polymorphisms in these two cytokines and the risk of acquired aplastic anemia (acquired AA) has not been explored. We selected five SNPs including rs11575812, rs2069772 and rs2069762 of IL-2, rs2227306 and rs2227543 of IL-8. SNaPshot genotyping was used to test the genotypes of IL-2 and IL-8 polymorphisms in a population of 101 acquired AA patients and 165 healthy controls. The rs2069762 G allele appeared to be a protective mutation, but no significant differences were found in other four SNPs. We also found that rs2069762 had an impact on the transcriptional regulation. It could be assumed that the rs2069762 polymorphism might reduce the risk of acquired aplastic anemia, while the remaining four SNPs might not contribute to susceptibility to acquired AA in a Chinese population. © 2017 The Author(s)Published by S. Karger AG, Basel.

  1. Community-acquired Clostridium difficile infection in children: A retrospective study.

    Science.gov (United States)

    Borali, Elena; Ortisi, Giuseppe; Moretti, Chiara; Stacul, Elisabetta Francesca; Lipreri, Rita; Gesu, Giovanni Pietro; De Giacomo, Costantino

    2015-10-01

    Community acquired-Clostridium difficile infection (CDI) has increased also in children in the last years. To determine the incidence of community-acquired CDI and to understand whether Clostridium difficile could be considered a symptom-triggering pathogen in infants. A five-year retrospective analysis (January 2007-December 2011) of faecal specimens from 124 children hospitalized in the Niguarda Ca' Granda Hospital for prolonged or muco-haemorrhagic diarrhoea was carried out. Stool samples were evaluated for common infective causes of diarrhoea and for Clostridium difficile toxins. Patients with and without CDI were compared for clinical characteristics and known risk factors for infection. Twenty-two children with CDI were identified in 5 years. An increased incidence of community-acquired CDI was observed, ranging from 0.75 per 1000 hospitalizations in 2007 to 9.8 per 1000 hospitalizations in 2011. Antimicrobial treatment was successful in all 19 children in whom it was administered; 8/22 CDI-positive children were younger than 2 years. No statistically significant differences in clinical presentation were observed between patients with and without CDI, nor in patients with and without risk factors for CDI. Our study shows that Clostridium difficile infection is increasing and suggests a possible pathogenic role in the first 2 years of life. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  2. Electrical Signaling, Photosynthesis and Systemic Acquired Acclimation

    Directory of Open Access Journals (Sweden)

    Magdalena Szechyńska-Hebda

    2017-09-01

    Full Text Available Electrical signaling in higher plants is required for the appropriate intracellular and intercellular communication, stress responses, growth and development. In this review, we have focus on recent findings regarding the electrical signaling, as a major regulator of the systemic acquired acclimation (SAA and the systemic acquired resistance (SAR. The electric signaling on its own cannot confer the required specificity of information to trigger SAA and SAR, therefore, we have also discussed a number of other mechanisms and signaling systems that can operate in combination with electric signaling. We have emphasized the interrelation between ionic mechanism of electrical activity and regulation of photosynthesis, which is intrinsic to a proper induction of SAA and SAR. In a special way, we have summarized the role of non-photochemical quenching and its regulator PsbS. Further, redox status of the cell, calcium and hydraulic waves, hormonal circuits and stomatal aperture regulation have been considered as components of the signaling. Finally, a model of light-dependent mechanisms of electrical signaling propagation has been presented together with the systemic regulation of light-responsive genes encoding both, ion channels and proteins involved in regulation of their activity. Due to space limitations, we have not addressed many other important aspects of hormonal and ROS signaling, which were presented in a number of recent excellent reviews.

  3. Neurosis of acquired helplessness and role of hypoxia in the formation of this disorder in rats.

    Science.gov (United States)

    Vvedenskaya, O Yu; Avrushchenko, M A; Bol'shakova, T D; Khitrov, N K; Moroz, V V

    2003-04-01

    Acquisition of instrumental defense response with pain reinforcement uncertainty (25% reinforcement) induced the development of acquired helplessness in 50% rats. Acquired helplessness is characterized by the absence of responses to conditioned (light) and unconditioned stimuli (pain), minor response of plasma corticosterone to learning, gas markers of circulatory cerebral hypoxia (Delta A/V pO2 carotid artery/jugular vein), low sensitivity to severe hypobaric conditions, and high resistance of Purkinje cells in the cerebellum. Piracetam improved learning and prevented the development of acquired helplessness. Local changes in cerebral blood flow and energy deficit in neurons responsible for emotional stress during acquired helplessness impair adaptive capacity, but reduce energy consumption and protect neuronal structures.

  4. 29 CFR 789.5 - “* * * acquired * * * in good faith * * * for value without notice * * *.”

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false â* * * acquired * * * in good faith * * * for value without... OF 1938, RELATING TO WRITTEN ASSURANCES § 789.5 “* * * acquired * * * in good faith * * * for value... the goods in good faith in reliance on the specified written assurance in order to be accorded the...

  5. Pseudomona pseudomallei community acquired pneumonia

    International Nuclear Information System (INIS)

    Severiche, Diego

    1998-01-01

    This is the first published case report en Colombia about pseudomona pseudomallei community acquired pneumonia. This uncommon pathogen is from the epidemiological standpoint a very important one and medical community should be aware to look after it in those patients where no other etiological pathogen is recovered. A brief summary about epidemiology is showed, emphasizing those regions where it can be found. Likewise, comments about the differential diagnosis are important since it should be considered in those patients where tuberculosis is suspected. This is particularly representative for countries with high tuberculosis rates. Furthermore, a microbiological review is shown, emphasizing on isolation techniques, descriptions about therapeutics and other regarding treatment issues according international standards. Finally; a description about the clinical picture, laboratory findings, treatment and evolution of the case reported are shown for discussion

  6. HOW ROMANIAN FINANCIAL AND INTERNAL AUDITORS ACQUIRE ACCOUNTING INFORMATION SYSTEMS KNOWLEDGE AND COMPETENCES?

    OpenAIRE

    Cardos Vasile - Daniel

    2011-01-01

    Research theme - in this article we investigate how Romanian financial and internal auditors acquire accounting information systems knowledge and competences and how they use this knowledge to improve their activity in order to fulfill their mission as required by the professional standards. Objectives - our main purpose is to establish through what type of courses Romanian financial and internal auditors acquiring accounting information systems knowledge and competences and how useful these ...

  7. The motivational needs of primary health care nurses to acquire ...

    African Journals Online (AJOL)

    The motivational needs of primary health care nurses to acquire power as leaders in ... Ethical considerations were adhered to and respondents gave written ... Validity and reliability principles were applied during the entire research process.

  8. Superior voice recognition in a patient with acquired prosopagnosia and object agnosia.

    Science.gov (United States)

    Hoover, Adria E N; Démonet, Jean-François; Steeves, Jennifer K E

    2010-11-01

    Anecdotally, it has been reported that individuals with acquired prosopagnosia compensate for their inability to recognize faces by using other person identity cues such as hair, gait or the voice. Are they therefore superior at the use of non-face cues, specifically voices, to person identity? Here, we empirically measure person and object identity recognition in a patient with acquired prosopagnosia and object agnosia. We quantify person identity (face and voice) and object identity (car and horn) recognition for visual, auditory, and bimodal (visual and auditory) stimuli. The patient is unable to recognize faces or cars, consistent with his prosopagnosia and object agnosia, respectively. He is perfectly able to recognize people's voices and car horns and bimodal stimuli. These data show a reverse shift in the typical weighting of visual over auditory information for audiovisual stimuli in a compromised visual recognition system. Moreover, the patient shows selectively superior voice recognition compared to the controls revealing that two different stimulus domains, persons and objects, may not be equally affected by sensory adaptation effects. This also implies that person and object identity recognition are processed in separate pathways. These data demonstrate that an individual with acquired prosopagnosia and object agnosia can compensate for the visual impairment and become quite skilled at using spared aspects of sensory processing. In the case of acquired prosopagnosia it is advantageous to develop a superior use of voices for person identity recognition in everyday life. Copyright © 2010 Elsevier Ltd. All rights reserved.

  9. Normothermal or Hypothermal Extracorporeal Circulation Regimens in Patients with Acquired Heart Disease

    Directory of Open Access Journals (Sweden)

    V. V. Lomivorotov

    2013-01-01

    Full Text Available Background. Hypothermal extracorporeal circulation has been used in cardiosurgery over 50 years. However, recent trials have not shown its predominant effect on the protection of the brain, lung, and myocardium in patients during surgery. We have presumed that when normothermal extracorporeal circulation used in patients with acquired heart disease, its pathophysiological effect on the body is comparable with that of hypothermal extracorporeal circulation. Subjects and methods. One hundred and forty patients who were to undergo acquired heart disease correction were randomized into two equal groups: that using hypothermal or normothermal extracorporeal circulation. Perioperative troponin I and NT-proBNP concentrations, postoperative clinical course, and hospital morbidity and mortality rates were estimated. Results. There were no significant differences in the concentrations of troponin I and NT-proBNP at the study stages. In the normothermal extracorporeal circulation group patients with isolated aortic stenosis, the concentration of troponin I was higher than that in the hypothermal extracorporeal circulation group. Analyzing the postoperative course indicated that the duration of mechanical ventilation was significantly lower in the hypothermal extracorporeal circulation group than in the normothermal extracorporeal circulation group. There were no differences in hospital complications and mortality rates. Conclusion. Hypothermal versus normothermal extracorporeal circulation in the correction of acquired heart diseases has no predominant effect on tro-ponin I and NT-proBNP concentrations, postoperative clinical course, and hospital complications and mortality rates. Key words: extracorporeal circulation, hypothermia, acquired heart disease, troponin I, NT-proBNP.

  10. Foliar application of systemic acquired resistance (SAR) inducers for ...

    African Journals Online (AJOL)

    nbuensanteai

    2013-08-14

    Aug 14, 2013 ... induced by chitosan and BTH were involved in defense mechanism, reflecting the strong direct positive effect that chitosan ... to control plant diseases based on the systemic acquired resistance ... salicylic acid (SA) as a signal molecule and is associated ... treated plants for SAR relating chemical analyses.

  11. Latex allergy in an infant with acquired hydrocephalus | Ehiozw ...

    African Journals Online (AJOL)

    We report the case of a 3 month old male infant with acquired hydrocephalus undergoing ventriculo-peritoneal shunt insertion who developed wheals and suffered a respiratory arrest following contact with latex gloves. The need for anaesthetists to effectively diagnose and properly manage this rare clinical entity is ...

  12. Acquired Methemoglobinemia - A Sporadic Holi Disaster.

    Science.gov (United States)

    Masavkar, Sanjeevani Satish; Mauskar, Anupama; Patwardhan, Gaurav; Bhat, Vasudeva; Manglani, Mamta V

    2017-06-15

    To study clinical profile and outcome in patients with methemoglobinemia following exposure to toxic colors during Holi festival. This retrospective study included 112 children (5 to 12 years) admitted with methemoglobinemia after playing Holi. Clinical and treatment details were reviewed. The common symptoms were giddiness, vomiting and headache. Treatment included thorough skin wash, intravenous fluid and methylene blue in 111 children. Age 7-9 and > 11 years, vomiting, giddiness, cyanosis, PaO2 < 80 mm Hg and oxygen saturation < 95% were associated with higher need for methylene blue. All children had a good outcome. Timely diagnosis and management of acquired methemoglobinemia can save lives.

  13. Acquired apraxia of speech: a review.

    Science.gov (United States)

    Knollman-Porter, Kelly

    2008-01-01

    Apraxia of speech (AOS) is an acquired adult neurogenic communication disorder that often occurs following stroke. The purpose of this article is to review current research studies addressing the diagnostic and therapeutic management of AOS. Traditional definitions and characteristics are compared with current features that assist in the differential diagnosis of AOS. Prognostic indicators are reviewed in addition to how neuroplasticity may impact treatment in chronic AOS. Treatment techniques discussed include the articulatory kinematic approach (AKA), use of augmentative/alternative communication devices, intersystemic facilitation/reorganization, and constraint-induced therapy. Finally, the need to address functional communication through support groups, outside the therapeutic environment, is discussed.

  14. Mesenchymal Stem Cell Benefits Observed in Bone Marrow Failure and Acquired Aplastic Anemia

    Science.gov (United States)

    Gonzaga, Vivian Fonseca; Lisboa, Gustavo Sabino; Frare, Eduardo Osório

    2017-01-01

    Acquired aplastic anemia (AA) is a type of bone marrow failure (BMF) syndrome characterized by partial or total bone marrow (BM) destruction resulting in peripheral blood (PB) pancytopenia, which is the reduction in the number of red blood cells (RBC) and white blood cells (WBC), as well as platelets (PLT). The first-line treatment option of AA is given by hematopoietic stem cell (HSCs) transplant and/or immunosuppressive (IS) drug administration. Some patients did not respond to the treatment and remain pancytopenic following IS drugs. The studies are in progress to test the efficacy of adoptive cellular therapies as mesenchymal stem cells (MSCs), which confer low immunogenicity and are reliable allogeneic transplants in refractory severe aplastic anemia (SAA) cases. Moreover, bone marrow stromal cells (BMSC) constitute an essential component of the hematopoietic niche, responsible for stimulating and enhancing the proliferation of HSCs by secreting regulatory molecules and cytokines, providing stimulus to natural BM microenvironment for hematopoiesis. This review summarizes scientific evidences of the hematopoiesis improvements after MSC transplant, observed in acquired AA/BMF animal models as well as in patients with acquired AA. Additionally, we discuss the direct and indirect contribution of MSCs to the pathogenesis of acquired AA. PMID:29333168

  15. Acquired ectropion uveae and secondary glaucoma due to trauma: report of 3 cases.

    Science.gov (United States)

    Markovic, Vujica; Vukovic, Dragan; Radosavljevic, Aleksandra; Marjanovic, Ivan

    2017-01-19

    To investigate the possible association between acquired ectropion uveae and blunt trauma to the eye. We present 3 cases of acquired ectropion uveae that occurred after blunt trauma to the eye. There are no previously published data on possible association of these conditions. A retrospective review was conducted of patients with ectropion uveae and eye injury at University Eye Hospital over a 10-year period (2006-2016). We analyzed medical records and clinical findings. Three eyes of 3 male patients with ocular trauma and ectropion uveae, ages 71, 68, and 5 years, were reviewed. The period between the eye injury and the diagnosis of ectropion uveae ranged from 10 to 36 months. All 3 eyes developed clinical evidence of secondary glaucoma with moderately to severely elevated intraocular pressure (IOP) (ranging from 29 to 48 mm Hg). Surgical treatment (trabeculectomy) was needed in 2 cases in order to control secondary glaucoma and conservative treatment was sufficient in 1 case. Mean patient follow-up was 19.3 ± 4.6 months. Trauma can be considered as a cause of acquired ectropion uveae. Acquired ectropion uveae following eye trauma may be associated with significant increase in IOP. All patients in our series had secondary glaucoma and 2 of 3 required surgical treatment for IOP control.

  16. Community acquired urinary tract infection: etiology and bacterial susceptibility

    Directory of Open Access Journals (Sweden)

    Dias Neto José Anastácio

    2003-01-01

    Full Text Available PURPOSE: Urinary tract infections (UTI are one of the most common infectious diseases diagnosed. UTI account for a large proportion of antibacterial drug consumption and have large socio-economic impacts. Since the majority of the treatments begins or is done completely empirically, the knowledge of the organisms, their epidemiological characteristics and their antibacterial susceptibility that may vary with time is mandatory. OBJECTIVE: The aim of this study was to report the prevalence of uropathogens and their antibiotic susceptibility of the community acquired UTI diagnosed in our institution and to provide a national data. METHODS: We analyzed retrospectively the results of urine cultures of 402 patients that had community acquired urinary tract infection in the year of 2003. RESULTS: The mean age of the patients in this study was 45.34 ± 23.56 (SD years. There were 242 (60.2% females and 160 (39.8% males. The most commonly isolated organism was Escherichia coli (58%. Klebsiella sp. (8.4% and Enterococcus sp.(7.9% were reported as the next most common organisms. Of all bacteria isolated from community acquired UTI, only 37% were sensitive to ampicillin, 51% to cefalothin and 52% to trimethoprim/sulfamethoxazole. The highest levels of susceptibility were to imipenem (96%, ceftriaxone (90%, amikacin (90%, gentamicin (88%, levofloxacin (86%, ciprofloxacin (73%, nitrofurantoin (77% and norfloxacin (75%. CONCLUSION: Gram-negative agents are the most common cause of UTI. Fluoroquinolones remains the choice among the orally administered antibiotics, followed by nitrofurantoin, second and third generation cephalosporins. For severe disease that require parenteral antibiotics the choice should be aminoglycosides, third generation cephalosporins, fluoroquinolones or imipenem, which were the most effective.

  17. Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy

    NARCIS (Netherlands)

    Hennekam, R. C.; Renckens-Wennen, E. G.

    1990-01-01

    We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases

  18. Pediatric acquired brain injury.

    Science.gov (United States)

    Bodack, Marie I

    2010-10-01

    Although pediatric patients are sometimes included in studies about visual problems in patients with acquired brain injury (ABI), few studies deal solely with children. Unlike studies dealing with adult patients, in which mechanisms of brain injury are divided into cerebral vascular accident (CVA) and traumatic brain injury (TBI), studies on pediatric patients deal almost exclusively with traumatic brain injury, specifically caused by accidents. Here we report on the vision problems of 4 pediatric patients, ages 3 to 18 years, who were examined in the ophthalmology/optometry clinic at a children's hospital. All patients had an internally caused brain injury and after the initial insult manifested problems in at least one of the following areas: acuity, binocularity, motility (tracking or saccades), accommodation, visual fields, and visual perceptual skills. Pediatric patients can suffer from a variety of oculo-visual problems after the onset of head injury. These patients may or may not be symptomatic and can benefit from optometric intervention. Copyright © 2010 American Optometric Association. Published by Elsevier Inc. All rights reserved.

  19. Neonatal respiratory syncytial virus infection: role of transplacentally and breast milk-acquired antibodies.

    OpenAIRE

    Wong, D T; Ogra, P L

    1986-01-01

    The effect of transplacentally and breast milk-acquired antibodies on respiratory syncytial virus infection was studied in neonatal and 2-month-old cotton rats. Adult female rats infected intranasally with live virus regularly produced virus-specific antibodies in the serum, colostrum, and breast milk. By using foster feeding techniques, we showed that both transplacentally and breast milk-acquired antibodies were effective in reducing the replication of respiratory syncytial virus in the lun...

  20. Characteristics of Individuals with Congenital and Acquired Deaf-Blindness

    Science.gov (United States)

    Dalby, Dawn M.; Hirdes, John P.; Stolee, Paul; Strong, J. Graham; Poss, Jeff; Tjam, Erin Y.; Bowman, Lindsay; Ashworth, Melody

    2009-01-01

    Using a standardized assessment instrument, the authors compared 182 adults with congenital deaf-blindness and those with acquired deaf-blindness. They found that those with congenital deaf-blindness were more likely to have impairments in cognition, activities of daily living, and social interactions and were less likely to use speech for…

  1. Learning through Business Games: Acquiring Competences within Virtual Realities

    Science.gov (United States)

    Fortmuller, Richard

    2009-01-01

    The didactic function of business games is often seen only in the development of sociocommunicative competences and general problem-solving strategies. An equally important aspect of business games lies in the acquirement of technical and problem-oriented knowledge, which is the focus of this article. Moreover, this knowledge dimension is further…

  2. Implicit Sublexical Phonological Processing in an Acquired Dyslexic Patient.

    Science.gov (United States)

    Hildebrandt, Nancy; Sokol, Scott M.

    1993-01-01

    Reports a case study of an acquired dyslexic subject who showed no evidence of having any access to sublexical phonological information. Notes, however, that the subject showed normal effects of spelling regularity for low-frequency words, suggesting sublexical phonological processing. Suggests that the types of explicit tasks previously used are…

  3. A methodology for acquiring qualitative knowledge for probabilistic graphical models

    DEFF Research Database (Denmark)

    Kjærulff, Uffe Bro; Madsen, Anders L.

    2004-01-01

    We present a practical and general methodology that simplifies the task of acquiring and formulating qualitative knowledge for constructing probabilistic graphical models (PGMs). The methodology efficiently captures and communicates expert knowledge, and has significantly eased the model...

  4. Síndrome de Silver-Russell: relato de caso Silver-Russell Syndrome: case report

    Directory of Open Access Journals (Sweden)

    Natalia Freitas Rossi

    2006-12-01

    tests were applied. RESULTS: molecular test excluded a maternal uniparental disomy (UPD of chromosome 7 in this case. In physical examination identified the most important signs of SSR phenotype that included prenatal growth retardation, typical face, skeletal asymmetry, and fifth finger clinodactily. Cognitive and speech language evaluation showed mental retardation, speech/language and oral functions disorders. CONCLUSIONS: the study of this case allowed for spreading the phenotype of SRS with its physical manifestations, cognitive, language and oral functions disorders. Although the molecular test has not confirmed one of the possible etiological mechanisms of the syndrome, the medical genetic evaluation evidenced the presence of the main signals that had been correlated to literature. The psychological and speech/language evaluation pointed out to cognitive, communication impairment and oral functions disorders suggesting that these findings can be part of phenotype for this syndrome, still little known among speech-pathologists.

  5. Presence and mechanisms of acquired antimicrobial resistance in Belgian Brachyspira hyodysenteriae isolates belonging to different clonal complexes.

    Science.gov (United States)

    Mahu, M; Pasmans, F; Vranckx, K; De Pauw, N; Vande Maele, L; Vyt, Philip; Vandersmissen, Tamara; Martel, A; Haesebrouck, F; Boyen, F

    2017-08-01

    Swine dysentery (SD) is an economically important disease for which antimicrobial treatment still occupies an important place to control outbreaks. However, acquired antimicrobial resistance is increasingly observed in Brachyspira hyodysenteriae. In this study, the Minimal Inhibitory Concentrations (MIC) of six antimicrobial compounds for 30 recent Belgian B. hyodysenteriae isolates were determined using a broth microdilution method. In addition, relevant regions of the 16S rRNA, 23S rRNA and the L3 protein encoding genes were sequenced to reveal mutations associated with acquired resistance. Finally, a phylogeny was reconstructed using minimal spanning tree analysis of multi locus sequence typing of the isolates. For lincomycin, doxycycline, tylosin and tylvalosin, at least 70% of the isolates did not belong to the wild-type population and were considered to have acquired resistance. For valnemulin and tiamulin, this was over 50%. In all isolates with acquired resistance to doxycycline, the G1058C mutation was present in their 16S rRNA gene. All isolates showing acquired resistance to lincomycin and both macrolides displayed the A2058T mutation in their 23S rRNA gene. Other mutations in this gene and the N148S mutation in the L3 protein were present in both wild-type isolates and isolates considered to have acquired resistance. Multi locus sequence analysis revealed a previously undescribed clonal complex, with 4 novel sequence types in which the majority of isolates showed acquired resistance to all tested antimicrobial products. In conclusion, acquired antimicrobial resistance is widespread among Belgian B. hyodysenteriae isolates. The emergence of multi-resistant clonal complexes can pose a threat to swine industry. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Acquired dysgraphia in adults following right or left-hemisphere stroke

    Directory of Open Access Journals (Sweden)

    Jaqueline de Carvalho Rodrigues

    Full Text Available OBJECTIVE: This study aimed to assess the strengths and difficulties in word and pseudoword writing in adults with left- and right-hemisphere strokes, and discuss the profiles of acquired dysgraphia in these individuals.METHODS: The profiles of six adults with acquired dysgraphia in left- or right-hemisphere strokes were investigated by comparing their performance on word and pseudoword writing tasks against that of neurologically healthy adults. A case series analysis was performed on the patients whose impairments on the task were indicative of acquired dysgraphia.RESULTS: Two patients were diagnosed with lexical dysgraphia (one with left hemisphere damage, and the other with right hemisphere damage, one with phonological dysgraphia, another patient with peripheral dysgraphia, one patient with mixed dysgraphia and the last with dysgraphia due to damage to the graphemic buffer. The latter patients all had left-hemisphere damage (LHD. The patterns of impairment observed in each patient were discussed based on the dual-route model of writing.CONCLUSION: The fact that most patients had LHD rather than right-hemisphere damage (RHD highlights the importance of the former structure for word processing. However, the fact that lexical dysgraphia was also diagnosed in a patient with RHD suggests that these individuals may develop writing impairments due to damage to the lexical route, leading to heavier reliance on phonological processing. Our results are of significant importance to the planning of writing interventions in neuropsychology.

  7. Prevention of hospital-acquired hyponatraemia

    DEFF Research Database (Denmark)

    Lunøe, Mathilde; Overgaard-Steensen, C

    2015-01-01

    for prevention of hospital-acquired hyponatraemia is an understanding of what determines plasma sodium concentration (P-[Na(+) ]) in the individual patient. P-[Na(+) ] is determined by balances of water and cations according to Edelman. This paper discusses the mechanisms influencing water and cation balances....... In the hospitalised patient, non-osmotic antidiuretic hormone secretion is frequent and results in a reduced renal electrolyte-free water clearance (EFWC). This condition puts the patient at risk of hyponatraemia upon infusion of fluids that are hypotonic such as 5% glucose, Darrow-glucose, NaKglucose and 0.45% Na......Cl in 5% glucose. It is suggested that individualised fluid therapy includes the following: Firstly, bolus therapy with Ringer-acetate/Ringer-lactate/0.9% NaCl in the hypovolaemic patient to minimise the risk of fluid under-/overload. Secondly, P-[Na(+) ] should be monitored together with the balances...

  8. Acquired auditory-visual synesthesia: A window to early cross-modal sensory interactions

    Directory of Open Access Journals (Sweden)

    Pegah Afra

    2009-01-01

    Full Text Available Pegah Afra, Michael Funke, Fumisuke MatsuoDepartment of Neurology, University of Utah, Salt Lake City, UT, USAAbstract: Synesthesia is experienced when sensory stimulation of one sensory modality elicits an involuntary sensation in another sensory modality. Auditory-visual synesthesia occurs when auditory stimuli elicit visual sensations. It has developmental, induced and acquired varieties. The acquired variety has been reported in association with deafferentation of the visual system as well as temporal lobe pathology with intact visual pathways. The induced variety has been reported in experimental and post-surgical blindfolding, as well as intake of hallucinogenic or psychedelics. Although in humans there is no known anatomical pathway connecting auditory areas to primary and/or early visual association areas, there is imaging and neurophysiologic evidence to the presence of early cross modal interactions between the auditory and visual sensory pathways. Synesthesia may be a window of opportunity to study these cross modal interactions. Here we review the existing literature in the acquired and induced auditory-visual synesthesias and discuss the possible neural mechanisms.Keywords: synesthesia, auditory-visual, cross modal

  9. Qualification and competence in workers with limitations acquired in work related activity

    Directory of Open Access Journals (Sweden)

    Rosa Liliana Sbriller

    2017-12-01

    Full Text Available Introduction: The present research is based on the posture of critical occupational therapy and analyzes the concept of occupational skills required in the current job market, and its application in processes of work exclusion - inclusion in people with limitations acquired due to work related activities. Objective: Describe and analyze the concept of labor competencies within the transformation of the globalized occupational world, and analyze the impact of the required skills in the processes of exclusion - inclusion of people with limitations acquired due to work related activities. Method: Qualitative research. Technique: Documentary analysis and literary review. Results: Consider skills as construction in social action promotes debate within the field of occupational therapy with regard to professional intervention, expanding opportunities for job inclusion of people limitations acquired due to work related activities within the context of economic exclusion from the globalized labor market. Conclusion: Understanding the problem and it is current implications, helps to question praxis of occupational therapy and promotes the basis for an empirical investigation.

  10. Evaluation of Spectrodirectional Alfalfa Canopy Data Acquired During Daisex'99

    NARCIS (Netherlands)

    Strub, G.; Schaepman, M.E.; Knyazikhin, Y.; Itten, K.I.

    2003-01-01

    Field goniometer measurements are a tool to generate a priori bidirectional reflectance distribution function (BRDF) knowledge for correction and validation of directional reflectance data acquired by air- and spaceborne sensors. This study analyzes the diurnal hemispherical.-directional reflectance

  11. The role of haloaerosolotherapy in immunorehabilitation of convalescents after community acquired pneumonia

    Directory of Open Access Journals (Sweden)

    Olha Lemko

    2015-02-01

    Full Text Available Aim: Investigation of the peculiarities of different haloaerosoltherapy regimes influence (treatment with different intensity of haloaerosol load upon non-specific defense and cellular immunity at convalescents after community acquired pneumonia. Objectives: patients with community acquired pneumonia in the early convalescence period (after completing antibiotic therapy, who received treatment in conditions of artificial rock salt aerosol medium (haloaerosoltherapy. Material and Methods. 42 patients with non-severe community acquired pneumonia were examined in the early convalescence period before and after the course of haloaerosoltherapy, which was prescribed after antibacterial therapy. Immunological studies included: evaluation of phagocytic activity of neutrophils (PhAN - the percentage of phagocytic neutrophils, phagocytic number (PhN - average number of latex particles absorbed by a neutrophil; metabolism of neutrophils in the test with nitroblue tetrasolium (NBT-test spontaneous and induced, which allowed to assess the functional reserve of neutrophils (FR; calculation of cytochemical coefficient (CCC for lysosomal cationic proteins (LCP and for myeloperoxidase (MPO of neutrophils; number of T- and B-lymphocytes and their subpopulations (CD3+ -, CD4+ -, CD8+ -, CD22+ - lymphocytes, calculation the number of 0- lymphocytes and the ratio of CD4+ /CD8+ lymphocytes. Laboratory examinations were also conducted in 21 practically healthy individuals (control group. Two regimes of haloaerosoltherapy were used in recovery treatment of patients with community acquired pneumonia: treating complex №1 (TC-1 with standard haloaerosol load and with increased haloaerosol load (TC-2. Results. After completion the antibiotic therapy at patients with community acquired pneumonia the moderate inhibition of phagocytic activity of neutrophils (47,6±0,58% to 55,5±1,14% in control group remained and was accompanied with a decrease in neutrophil bactericidal

  12. A Corpus-Based Comparative Study of "Learn" and "Acquire"

    Science.gov (United States)

    Yang, Bei

    2016-01-01

    As an important yet intricate linguistic feature in English language, synonymy poses a great challenge for second language learners. Using the 100 million-word British National Corpus (BNC) as data and the software Sketch Engine (SkE) as an analyzing tool, this article compares the usage of "learn" and "acquire" used in natural…

  13. Imaging of acquired non-traumatic cochlear lesions: iconographic essay

    International Nuclear Information System (INIS)

    Garcia, Marcelo de Mattos; Gonzaga, Juliana Gontijo

    2006-01-01

    Different non-traumatic acquired cochlear lesions are shown in this article with imaging methods. They may be responsible for neuro sensorial hearing loss or vertigo. The method of choice is computed tomography when evaluating the osseous labyrinth whereas magnetic resonance imaging has superior resolution in the studies of the membranaceous labyrinth. (author)

  14. Childhood acquired heart diseases in Jos, north central Nigeria ...

    African Journals Online (AJOL)

    Background: The patterns of childhood acquired heart diseases (AHD) vary in different parts of the world and may evolve over time. We aimed to compare the pattern of childhood AHD in our institution to the historical and contemporary patterns in other parts of the country, and to highlight possible regional differences and ...

  15. Iterative reconstruction with attenuation compensation from cone-beam projections acquired via nonplanar orbits

    International Nuclear Information System (INIS)

    Zeng, G.L.; Weng, Y.; Gullberg, G.T.

    1997-01-01

    Single photon emission computed tomography (SPECT) imaging with cone-beam collimators provides improved sensitivity and spatial resolution for imaging small objects with large field-of-view detectors. It is known that Tuy's cone-beam data sufficiency condition must be met to obtain artifact-free reconstructions. Even though Tuy's condition was derived for an attenuation-free situation, the authors hypothesize that an artifact-free reconstruction can be obtained even if the cone-beam data are attenuated, provided the imaging orbit satisfies Tuy's condition and the exact attenuation map is known. In the authors' studies, emission data are acquired using nonplanar circle-and-line orbits to acquire cone-beam data for tomographic reconstructions. An extended iterative ML-EM (maximum likelihood-expectation maximization) reconstruction algorithm is derived and used to reconstruct projection data with either a pre-acquired or assumed attenuation map. Quantitative accuracy of the attenuation corrected emission reconstruction is significantly improved

  16. Analysis of the effectiveness of physical rehabilitation according spirographic indicators in community-acquired pneumonia during convalescence

    Directory of Open Access Journals (Sweden)

    Y. S. Kalmykova

    2014-09-01

    Full Text Available Purpose : to make a program of physical rehabilitation for convalescents after community-acquired pneumonia, promotes normalization of respiratory function. The objectives of the study was to evaluate the dynamics spirographic indicators during convalescence community-acquired pneumonia. Material: the study involved 28 women aged 19 to 24 years with a diagnosis of community-acquired pneumonia after convalescent. Results: the positive influence of physiotherapy based dance aerobics; morning hygienic gymnastics; therapeutic massage and physical therapy on indicators of lung volumes, ventilation and bronchial patency according spirographic research. Conclusion: in community-acquired pneumonia during the convalescence period recommended physical rehabilitation, which includes curative gymnastics based on dance aerobics, morning hygienic gymnastics, massage therapy, physiotherapy. It improves the functionality of the cardiorespiratory system, nonspecific immunity and overall physical performance level.

  17. The motivational needs of primary health care nurses to acquire ...

    African Journals Online (AJOL)

    Karien Jooste

    for a significant part of service delivery in the health system. Professional nurses' .... motivational needs of PHC nurses to acquire power in the workplace at mine clinic .... recognition through rewards and status (Jooste, 2009, p. 165). 10.1.1.

  18. HOW ROMANIAN FINANCIAL AND INTERNAL AUDITORS ACQUIRE ACCOUNTING INFORMATION SYSTEMS KNOWLEDGE AND COMPETENCES?

    Directory of Open Access Journals (Sweden)

    Cardos Vasile - Daniel

    2011-07-01

    Full Text Available Research theme in this article we investigate how Romanian financial and internal auditors acquire accounting information systems knowledge and competences and how they use this knowledge to improve their activity in order to fulfill their mission as required by the professional standards. Objectives our main purpose is to establish through what type of courses Romanian financial and internal auditors acquiring accounting information systems knowledge and competences and how useful these courses are perceived by the auditors. Prior work audit professional organizations prescribed that auditors must acquire, maintain and develop their knowledge and competences. Information technology and information systems are considered to be a main knowledge component of professional development programs. The scientific literature indicates that auditors have to enhance their information systems knowledge in order to cope with the increasing complexity of the client's entities accounting information systems. We consider that our article embraces Curtis et al. (2009 call for research on how auditors obtain information systems knowledge. Methodology an electronic questionnaire was created and sent to Romanian financial and internal auditors, which were required to indicate the number of accounting information systems course they attended and how the knowledge gained improved their activity. Results We concluded that financial auditors acquire accounting information systems knowledge mainly by attending the courses organized by the Chamber of Financial Auditors of Romanian, while internal auditors by attending the course organized by the companies they are working with. Implications - The results of this study might be used by Romanian professional audit organizations in reconsidering their priorities regarding the accounting information systems knowledge and competence needs of their constituents. Originality/Contribution Our study is the first one to

  19. The acquired hyperostosis syndrome. Pt. 2

    International Nuclear Information System (INIS)

    Dihlmann, W.; Hering, L.; Bargon, G.W.

    1988-01-01

    In the second part of this publication, we describe some additional findings in cases of sternocostoclavicular hyperostosis (SCCH). These include focal hyperostosis of the spine, in the pelvis and in the extremities and psoriatric skin lesions and severe forms of acne (acne conglobata, acne fulminans). An analysis of our 13 patients and of the relevant literature indicates that the hyperostosis is due to increased bone metabolism and heterotopic ossification of fibrous tissue and that these are the pathogenic bases of the changes in the axial skeleton, the pelvis and the bones of the extremities. We have suggested a scheme which would categorise the syndrom into complete, incomplete and possibly acquired forms. (orig./GDG) [de

  20. THE EFFECT OF ACQUISITION ON THE STOCK RETURNS OF ACQUIRING COMPANIES: EXAMINING THE EFFECT OF ACQUISITIONS OCCURED THROUGH THE PERMISSION OF CAPITAL MARKET BOARD ON THE STOCK RETURNS OF ACQUIRING COMPANIES

    Directory of Open Access Journals (Sweden)

    LEVENT ÇITAK

    2013-06-01

    Full Text Available A merger can be defined as the economical and legal integration of two or more firms. On the other hand, an acquisiton is the transfer of all asssets and liabilities of the target firm to the acquiring firm. In the literature, merger and acquisition concepts can be used interchangeably. Firms tend to merge for the sake of creating snergy, competitive advantage, diversification, increasing firm value etc. Mergers and acquisitions are sometimes in favour of acquiring firms’ stock holders and sometimes target firms’ stock holders. Merger gains change, depending on the type of the merger and form of payment. In this study, mergers that occured through the permission of Capital Market Board have been used for the analyses. Of the mergers which have the permission, acquiring firms that are listed on Istanbul Stock Exchange have been considered and postacquisition buy and hold abnormal returns and cumulative abnormal returns have been calculated. It is concluded that postacquisition abnormal returns aren’t statistically significant. On the other hand, 1 month, 3 month, 6 month, 1 year and 2 year buy and hold abnormal returns and cumulative abnormal returns of the acquiring firms that use different payment methods are not statistically different from each other, on the basis of same return horizon. Two different methods of abnormal return calculation don’t make any difference in postacquisition abnormal returns, either.

  1. Precision grip in congenital and acquired hemiparesis: similarities in impairments and implications for neurorehabilitation - review

    Directory of Open Access Journals (Sweden)

    Yannick eBleyenheuft

    2014-06-01

    Full Text Available Background: Patients with congenital and acquired hemiparesis incur long-term functional deficits, among which the loss of prehension that may impact their functional independence. Identifying, understanding and comparing the underlying mechanisms of prehension impairments represent an opportunity to better adapt neurorehabilitationObjective: The present review aims to provide a better understanding of precision grip deficits in congenital and acquired hemiparesis and to determine whether the severity and type of fine motor control impairments depend on whether or not the lesions are congenital or acquired in adulthood. Methods: Using combinations of the following key words: fingertip force, grip force, precision grip, cerebral palsy, stroke, pubmed and Scopus databases were used to search studies from 1984 to 2013. Results: Individuals with both congenital and acquired hemiparesis were able to some extent to use anticipatory motor control in precision grip tasks, even if this control was impaired in the paretic hand. In both congenital or acquired hemiparesis, the ability to plan efficient anticipatory motor control when the less-affected hand is used provides a possibility to remediate impairments in anticipatory motor control of the paretic hand. Conclusion: Surprisingly we observed very few differences between the results of studies in children with congenital hemiplegia and stroke patients. We suggest that the underlying specific strategies of neurorehabilitation developed for each one could benefit the other.

  2. Hemorrhagic abscess in a patient with the acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Casado-Naranjo, I.; Lopez-Trigo, J.; Ferrandiz, A.; Cervello, A.; Navarro, V.

    1989-01-01

    Cerebral toxoplasmosis is frequent among patients with the acquired immunodeficiency syndrome. The common computed tomography appearance of this complication is multiple low density area with ring enhancement. We describe a very rare picture of cerebral toxoplasmosis, this is multiple hemorrhagic toxoplasmic abscess. (orig.)

  3. Itochu to Acquire 30% Share in Apparel Firm Shandong Ruyi

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    In its bid to expand in China's clothing sector, Itochu Corp, a Japanese trading firm which owns textile plants across Asia including China, Japan and Hong Kong, is set to acquire a 30 percent stake in Chinese apparel company Shandong Ruyi Group.

  4. Convergent Akt activation drives acquired EGFR inhibitor resistance in lung cancer

    DEFF Research Database (Denmark)

    Jacobsen, Kirstine; Bertran-Alamillo, Jordi; Molina, Miguel Angel

    2017-01-01

    Non-small-cell lung cancer patients with activating epidermal growth factor receptor (EGFR) mutations typically benefit from EGFR tyrosine kinase inhibitor treatment. However, virtually all patients succumb to acquired EGFR tyrosine kinase inhibitor resistance that occurs via diverse mechanisms....... The diversity and unpredictability of EGFR tyrosine kinase inhibitor resistance mechanisms presents a challenge for developing new treatments to overcome EGFR tyrosine kinase inhibitor resistance. Here, we show that Akt activation is a convergent feature of acquired EGFR tyrosine kinase inhibitor resistance......, across a spectrum of diverse, established upstream resistance mechanisms. Combined treatment with an EGFR tyrosine kinase inhibitor and Akt inhibitor causes apoptosis and synergistic growth inhibition in multiple EGFR tyrosine kinase inhibitor-resistant non-small-cell lung cancer models. Moreover...

  5. Seeing the sound after visual loss: functional MRI in acquired auditory-visual synesthesia.

    Science.gov (United States)

    Yong, Zixin; Hsieh, Po-Jang; Milea, Dan

    2017-02-01

    Acquired auditory-visual synesthesia (AVS) is a rare neurological sign, in which specific auditory stimulation triggers visual experience. In this study, we used event-related fMRI to explore the brain regions correlated with acquired monocular sound-induced phosphenes, which occurred 2 months after unilateral visual loss due to an ischemic optic neuropathy. During the fMRI session, 1-s pure tones at various pitches were presented to the patient, who was asked to report occurrence of sound-induced phosphenes by pressing one of the two buttons (yes/no). The brain activation during phosphene-experienced trials was contrasted with non-phosphene trials and compared to results obtained in one healthy control subject who underwent the same fMRI protocol. Our results suggest, for the first time, that acquired AVS occurring after visual impairment is associated with bilateral activation of primary and secondary visual cortex, possibly due to cross-wiring between auditory and visual sensory modalities.

  6. And the Winner is - Acquired

    DEFF Research Database (Denmark)

    Henkel, Joachim; Rønde, Thomas; Wagner, Marcus

    2015-01-01

    New entrants to a market tend to be superior to incumbents in originating radical innovations. We provide a new explanation for this phenomenon, based on markets for technology. It applies in industries where successful entrepreneurial firms, or their technologies, are acquired by incumbents...... that then commercialize the innovation. To this end we analyze an innovation game between one incumbent and a large number of entrants. In the first stage, firms compete to develop innovations of high quality. They do so by choosing, at equal cost, the success probability of their R&D approach, where a lower probability...... the incumbent performs the least radical project. Entrants pick pairwise different projects; the bigger the number of entrants, the more radical the most radical project. Generally, entrants tend to choose more radical R&D approaches and generate the highest value innovation in case of success. We illustrate...

  7. Intercontrole acquiring by Framatome

    International Nuclear Information System (INIS)

    1997-01-01

    The Framatome group, as the worldwide leader in nuclear power plant construction, has reinforced his competences in nuclear services thanks to the acquiring of the Intercontrole company, specialized in non-destructive testing in nuclear and industrial environments. After a presentation of the functioning principle and of the safety aspects of a PWR reactor, this press dossier presents in a first part the role of nuclear services and in particular of non-destructive testing in nuclear power plants (in-service inspection, regulatory aspects, testing processes). This part is illustrated with some examples of inspection performed on some components of the primary coolant loop (steam generators, reactor vessel, pressurizer, pipes, primary pumps). A second part presents the technical centres and units of Framatome in charge of performing non-destructive inspections, while a third part describes the industrial policy and strategy of the group in this domain (market of nuclear park maintenance in France, in the USA and worldwide, creation of the 'inspection and control' centre of Framatome). A last part presents the activities of the Intercontrole company and of its daughter companies with some examples of actions realized in the nuclear and natural gas domains. (J.S.)

  8. Constraint-induced movement therapy for children with acquired brain injury

    DEFF Research Database (Denmark)

    Schmidt Pedersen, Kristina; Pallesen, H.; Kristensen, H. K.

    2016-01-01

    An estimated 125-137 Danish children with acquired brain injury (ABI) require rehabilitation annually, 30-40 of these at a highly specialized level. Constraint-induced movement therapy (CIMT) has shown significant effects in increasing function in children with cerebral palsy. More knowledge of h...

  9. School Reentry for Children with Acquired Central Nervous Systems Injuries

    Science.gov (United States)

    Carney, Joan; Porter, Patricia

    2009-01-01

    Onset of acquired central nervous system (CNS) injury during the normal developmental process of childhood can have impact on cognitive, behavioral, and motor function. This alteration of function often necessitates special education programming, modifications, and accommodations in the education setting for successful school reentry. Special…

  10. Perception of using group buying sites to acquire tourist services cou-pons

    Directory of Open Access Journals (Sweden)

    Luiz Mendes Filho

    2016-08-01

    Full Text Available Technologies brought new forms of business as in the case of group buying sites, which are basically a way to sell on the Internet that allows consumers to buy goods and services at lower prices. This study analyzed the travelers’ perception of the use of group buying sites to acquire tourist services coupons. The research presents a quantitative-exploratory approach using the Technology Acceptance Model to investigate the use of group buying sites to acquire tourist services coupons during a trip. They were collected 60 valid questionnaires with students from a public university in northeastern of Brazil. It was used a data collection survey type, with a non-probabilistic convenience sample. Since this is a pilot study with a small sample, the results were verified by the structural equation modeling (SEM, using the technique Partial Least Squares (PLS. From the analysis, it was found that most people who responded to the questionnaires are using group buying sites to acquire tourist services coupons. However, according to the results, the group buying sites may not be easy tools to help in decision making in purchasing tourism services.

  11. Acquired Codes of Meaning in Data Visualization and Infographics: Beyond Perceptual Primitives.

    Science.gov (United States)

    Byrne, Lydia; Angus, Daniel; Wiles, Janet

    2016-01-01

    While information visualization frameworks and heuristics have traditionally been reluctant to include acquired codes of meaning, designers are making use of them in a wide variety of ways. Acquired codes leverage a user's experience to understand the meaning of a visualization. They range from figurative visualizations which rely on the reader's recognition of shapes, to conventional arrangements of graphic elements which represent particular subjects. In this study, we used content analysis to codify acquired meaning in visualization. We applied the content analysis to a set of infographics and data visualizations which are exemplars of innovative and effective design. 88% of the infographics and 71% of data visualizations in the sample contain at least one use of figurative visualization. Conventions on the arrangement of graphics are also widespread in the sample. In particular, a comparison of representations of time and other quantitative data showed that conventions can be specific to a subject. These results suggest that there is a need for information visualization research to expand its scope beyond perceptual channels, to include social and culturally constructed meaning. Our paper demonstrates a viable method for identifying figurative techniques and graphic conventions and integrating them into heuristics for visualization design.

  12. Passport of global nuclear business. ASME code certificate acquirement and inspection practices

    International Nuclear Information System (INIS)

    Kawabata, Hiroyuki; Terajima, Makoto; Anami, Kazuhiro

    2010-01-01

    There are possibilities of Japanese nuclear industries to participate in global business such as new and additional construction of nuclear power plants in US and also Asian and other developing countries in the world. It is requisite to acquire ASME code certificate for global business participation, just as passport. This article consists of five papers on present status of ASME code certificate acquirement and inspection practices of nuclear components vendors in the area of Japanese nuclear business. Activities of JSME Committee on Power Generation Facility Codes to make JSME codes corresponded to ASME nuclear codes and standards for their international deployment are also described. (T. Tanaka)

  13. Bedside Evaluation of Cerebral Energy Metabolism in Severe Community-Acquired Bacterial Meningitis

    DEFF Research Database (Denmark)

    Rom Poulsen, Frantz; Schulz, Mette; Jacobsen, Anne

    2015-01-01

    BACKGROUND: Mortality and morbidity have remained high in bacterial meningitis. Impairment of cerebral energy metabolism probably contributes to unfavorable outcome. Intracerebral microdialysis is routinely used to monitor cerebral energy metabolism, and recent experimental studies indicate...... that this technique may separate ischemia and non-ischemic mitochondrial dysfunction. The present study is a retrospective interpretation of biochemical data obtained in a series of patients with severe community-acquired meningitis. METHODS: Cerebral energy metabolism was monitored in 15 patients with severe...... community-acquired meningitis utilizing intracerebral microdialysis and bedside biochemical analysis. According to previous studies, cerebral ischemia was defined as lactate/pyruvate (LP) ratio >30 with intracerebral pyruvate level

  14. Ancestral genes can control the ability of horizontally acquired loci to confer new traits.

    Directory of Open Access Journals (Sweden)

    H Deborah Chen

    2011-07-01

    Full Text Available Horizontally acquired genes typically function as autonomous units conferring new abilities when introduced into different species. However, we reasoned that proteins preexisting in an organism might constrain the functionality of a horizontally acquired gene product if it operates on an ancestral pathway. Here, we determine how the horizontally acquired pmrD gene product activates the ancestral PmrA/PmrB two-component system in Salmonella enterica but not in the closely related bacterium Escherichia coli. The Salmonella PmrD protein binds to the phosphorylated PmrA protein (PmrA-P, protecting it from dephosphorylation by the PmrB protein. This results in transcription of PmrA-dependent genes, including those conferring polymyxin B resistance. We now report that the E. coli PmrD protein can activate the PmrA/PmrB system in Salmonella even though it cannot do it in E. coli, suggesting that these two species differ in an additional component controlling PmrA-P levels. We establish that the E. coli PmrB displays higher phosphatase activity towards PmrA-P than the Salmonella PmrB, and we identified a PmrB subdomain responsible for this property. Replacement of the E. coli pmrB gene with the Salmonella homolog was sufficient to render E. coli resistant to polymyxin B under PmrD-inducing conditions. Our findings provide a singular example whereby quantitative differences in the biochemical activities of orthologous ancestral proteins dictate the ability of a horizontally acquired gene product to confer species-specific traits. And they suggest that horizontally acquired genes can potentiate selection at ancestral loci.

  15. Absence of death receptor translocation into lipid rafts in acquired TRAIL-resistant NSCLC cells.

    Science.gov (United States)

    Ouyang, Wen; Yang, Chunxu; Zhang, Simin; Liu, Yu; Yang, Bo; Zhang, Junhong; Zhou, Fuxiang; Zhou, Yunfeng; Xie, Conghua

    2013-02-01

    Resistance to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is a major limitation for its clinical use. The mechanisms of TRAIL resistance have been mostly studied in the context of cell lines that are intrinsically resistant to TRAIL. However, little is known about the molecular alterations that contribute to the development of acquired resistance during treatment with TRAIL. In this study, we established H460R, an isogenic cell line with acquired TRAIL resistance, from the TRAIL‑sensitive human lung cancer cell line H460 to investigate the mechanisms of acquired resistance. The acquired TRAIL‑resistant H460R cells remained sensitive to cisplatin. The mRNA and protein expression levels of death receptor 4 (DR4) and death receptor 5 (DR5) were not altered in either of the TRAIL-treated cell lines. Nevertheless, tests in which the DR4 or DR5 gene was overexpressed or silenced suggest that death receptor expression is necessary but not sufficient for TRAIL‑induced apoptosis. Compared with parental TRAIL-sensitive H460 cells, H460R cells showed a decreased TRAIL-induced translocation of DR4/DR5 into lipid rafts. Further studies showed that nystatin partially prevented lipid raft aggregation and DR4 and DR5 clustering and reduced apoptosis in H460 cells again. Analysis of apoptotic molecules showed that more pro-caspase-8, FADD, caspase-3 and Bid, but less cFLIP in H460 cells than in H460R cells. Our findings suggest that the lack of death receptor redistribution negatively impacts DISC assembly in lipid rafts, which at least partially leads to the development of acquired resistance to TRAIL in H460R cells.

  16. Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.

    Science.gov (United States)

    Kobayashi, Atsushi; Parchi, Piero; Yamada, Masahito; Mohri, Shirou; Kitamoto, Tetsuyuki

    2016-06-01

    As an experimental model of acquired Creutzfeldt-Jakob disease (CJD), we performed transmission studies of sporadic CJD using knock-in mice expressing human prion protein (PrP). In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features, that is, widespread kuru plaques and intermediate type abnormal PrP (PrP(Sc) ). Interestingly, this distinctive combination of molecular and pathological features has been, to date, observed in acquired CJD but not in sporadic CJD. Assuming that these distinctive phenotypic traits are specific for acquired CJD, we revisited the literature and found two cases showing widespread kuru plaques despite the 129 M/M genotype, in a neurosurgeon and in a patient with a medical history of neurosurgery without dura mater grafting. By Western blot analysis of brain homogenates, we revealed the intermediate type of PrP(Sc) in both cases. Furthermore, transmission properties of brain extracts from these two cases were indistinguishable from those of a subgroup of dura mater graft-associated iatrogenic CJD caused by infection with the sporadic CJD strain V2. These data strongly suggest that the two atypical CJD cases, previously thought to represent sporadic CJD, very likely acquired the disease through exposure to prion-contaminated brain tissues. Thus, we propose that the distinctive combination of 129 M/M genotype, kuru plaques, and intermediate type PrP(Sc) , represents a reliable criterion for the identification of acquired CJD cases among presumed sporadic cases. © 2015 Japanese Society of Neuropathology.

  17. Life-threatening hemorrhage from acquired hemophilia A as a presenting manifestation of prostate cancer

    Directory of Open Access Journals (Sweden)

    Chirag Sheth

    2016-09-01

    Full Text Available Acquired factor VIII deficiency (acquired hemophilia A is a rare condition characterized by the acquisition of autoantibodies that affect the clotting activity of factor VIII (fVIII. The most common manifestation in affected patients is a hemorrhagic diathesis. This disorder is associated with autoimmune diseases, pregnancy, postpartum period, drugs, and malignancy. Management of this condition begins with attempts to arrest an acute bleed based on the site and severity of bleeding and inhibitor titer. The next priority is eradication of the fVIII antibodies using immunosuppressive therapies. We report the case of a 66-year-old male who presented with spontaneous right thigh hematoma with prolonged activated partial prothrombin time and normal prothrombin time. Mixing studies confirmed the presence of an inhibitor. Further investigation for the underlying etiology of acquired hemophilia A leads to diagnosis of prostate cancer. Treatment consisted of bypassing agents including activated factor VII and activated prothrombin plasma concentrate to arrest the bleeding. Steroids and cyclophosphamide were added to suppress the fVIII inhibitors. Concomitant treatment of locally advanced prostate cancer with chemotherapy confirmed the eradication of the inhibitors. To our knowledge, this is the first reported case of prostate cancer diagnosed and treated simultaneously with acquired hemophilia A resulting in favorable patient outcome.

  18. A Bias for the Natural? Children's Beliefs about Traits Acquired through Effort, Bribes, or Medicine

    Science.gov (United States)

    Lockhart, Kristi L.; Keil, Frank C.; Aw, Justine

    2013-01-01

    Three studies compared beliefs about natural and late blooming positive traits with those acquired through personal effort, extrinsic rewards or medicine. Young children (5-6 years), older children (8-13 years), and adults all showed a strong bias for natural and late blooming traits over acquired traits. All age groups, except 8- to 10-year-olds,…

  19. Hospital management of community-acquired pneumonia in Malta

    OpenAIRE

    Callus, Roberta; Micallef, Josef; Mamo, Jonathan; Montefort, Stephen

    2012-01-01

    Community-acquired pneumonia (CAP) remains a common diagnosis requiring hospital admission and a leading cause of death worldwide. No local guideline is currently available for the management of CAP. Our aim was to evaluate current practices in the management of CAP at Mater Dei Hospital, Malta. In this prospective study we looked at all adult patients admitted with CAP in winter and summer (105 consecutive days for both seasons). Data collected and analysed included: basic patient demographi...

  20. Onychomycosis by Fusarium oxysporum probably acquired in utero

    Directory of Open Access Journals (Sweden)

    Vania O. Carvalho

    2014-10-01

    Full Text Available Fusarium oxysporum has been described as a pathogen causing onychomycosis, its incidence has been increasing in immunocompetent and disseminated infection can occur in immunosuppressed individuals. We describe the first case of congenital onychomycosis in a child caused by Fusarium oxysporum. The infection being acquired in utero was proven by molecular methods with the identification of the fungus both in the nail and placenta, most probably as an ascending contamination/infection in a HIV-positive, immunosuppressed mother.

  1. Merge or Acquire - A Strategic Framework

    Directory of Open Access Journals (Sweden)

    Awadhesh Pratap SINGH

    2017-12-01

    Full Text Available Merger or acquisition is always a long-debated topic in the field of Strategy and Finance from a long time. This article proposes a strategic framework using five steps process to deal with this issue. The step one defines the objective of merger or acquisition. Second step deals with SWOT analysis. Step three follows the framework proposed by Dyer JH et. al (2004 to decide on when to ally and when to acquire. Step four applies Parenting Fit matrix. Finally, the fifth and final step carried out the valuation to take a call on the price for acquisition. All along this journey, the paper takes up a relevant example of Bank of America’s acquisition to Merrill Lynch and concludes.

  2. 25 CFR 225.40 - Government employees cannot acquire minerals agreements.

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false Government employees cannot acquire minerals agreements. 225.40 Section 225.40 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR ENERGY AND MINERALS OIL AND GAS, GEOTHERMAL, AND SOLID MINERALS AGREEMENTS Minerals Agreements § 225.40 Government...

  3. Advanced Methods for Clinical Outcome Prediction in Acquired Heart Disease

    NARCIS (Netherlands)

    L.C. Battes (Linda)

    2014-01-01

    markdownabstract__Abstract__ Acquired heart disease, which includes conditions such as coronary artery disease (CAD) and heart failure, continues to pose a large impediment on the individuals that suffer from it as well as on society in general. CAD is the leading cause of death in the

  4. Behavior Management for Children and Adolescents with Acquired Brain Injury

    Science.gov (United States)

    Slifer, Keith J.; Amari, Adrianna

    2009-01-01

    Behavioral problems such as disinhibition, irritability, restlessness, distractibility, and aggression are common after acquired brain injury (ABI). The persistence and severity of these problems impair the brain-injured individual's reintegration into family, school, and community life. Since the early 1980s, behavior analysis and therapy have…

  5. Parthenogenetic stem cells for tissue-engineered heart repair

    NARCIS (Netherlands)

    Didie, Michael; Christalla, Peter; Rubart, Michael; Muppala, Vijayakumar; Doeker, Stephan; Unsoeld, Bernhard; El-Armouche, Ali; Rau, Thomas; Eschenhagen, Thomas; Schwoerer, Alexander P.; Ehmke, Heimo; Schumacher, Udo; Fuchs, Sigrid; Lange, Claudia; Becker, Alexander; Tao, Wen; Scherschel, John A.; Soonpaa, Mark H.; Yang, Tao; Lin, Qiong; Zenke, Martin; Han, Dong-Wook; Schoeler, Hans R.; Rudolph, Cornelia; Steinemann, Doris; Schlegelberger, Brigitte; Kattman, Steve; Witty, Alec; Keller, Gordon; Field, Loren J.; Zimmermann, Wolfram-Hubertus

    Uniparental parthenotes are considered an unwanted byproduct of in vitro fertilization. In utero parthenote development is severely compromised by defective organogenesis and in particular by defective cardiogenesis. Although developmentally compromised, apparently pluripotent stem cells can be

  6. The Prevalence of Oropharyngeal Dysphagia in Danish Patients Hospitalised with Community-Acquired Pneumonia

    DEFF Research Database (Denmark)

    Kristiansen, Dorte Melgaard; Baandrup, Ulrik; Bøgsted, Martin

    2017-01-01

    Community-acquired pneumonia (CAP) and oropharyngeal dysphagia (OD) are prevalent conditions in the elderly. The aim of this study was to explore the relationship between CAP, OD, and frailty in patients admitted to a department of respiratory medicine at a regional hospital. The outcome was mort......Community-acquired pneumonia (CAP) and oropharyngeal dysphagia (OD) are prevalent conditions in the elderly. The aim of this study was to explore the relationship between CAP, OD, and frailty in patients admitted to a department of respiratory medicine at a regional hospital. The outcome...

  7. [Synchronous playing and acquiring of heart sounds and electrocardiogram based on labVIEW].

    Science.gov (United States)

    Dan, Chunmei; He, Wei; Zhou, Jing; Que, Xiaosheng

    2008-12-01

    In this paper is described a comprehensive system, which can acquire heart sounds and electrocardiogram (ECG) in parallel, synchronize the display; and play of heart sound and make auscultation and check phonocardiogram to tie in. The hardware system with C8051F340 as the core acquires the heart sound and ECG synchronously, and then sends them to indicators, respectively. Heart sounds are displayed and played simultaneously by controlling the moment of writing to indicator and sound output device. In clinical testing, heart sounds can be successfully located with ECG and real-time played.

  8. An extra X does not prevent acquired hemophilia - Pregnancy-associated acquired hemophilia A.

    Science.gov (United States)

    Barg, Assaf A; Livnat, Tami; Kenet, Gili

    2017-03-01

    Acquired hemophilia A (AHA) is a severe bleeding disorder caused by autoantibodies against clotting factor VIII (FVIII). With an estimated annual incidence of 1.3 to 1.5 per million, AHA is a rare disease. An extremely rare form of AHA has been described among women in the peripartum period, and may present with peripartum hemorrhage. Notably, although hemorrhagic symptoms commonly present 1-4 months around delivery, they may occur up to 1 year after parturition. When caring for a mother with AHA it is important to note that Factor VIII inhibitor may be transferred via the placenta from the mother to the fetus. Hence the newborn may also be affected. It is important to increase the awareness of Gynecologists for clinical symptoms and laboratory signs of AHA in order to avoid delayed diagnosis. Treatment may involve use of bypass agents to control hemorrhage, despite the risk of thrombosis, while immunomodulation (with increasing role for Rituximab) may be required to eradicate the inhibiting antibodies. Our review will evaluate the epidemiology, diagnosis, clinical course and treatment of peripartum AHA, focusing upon mother and infant care. © 2017 Elsevier Ltd. All rights reserved.

  9. Acquired high titre factor VIII inhibitor with underlying polyarteritis nodosa.

    Science.gov (United States)

    Snowden, J A; Hutchings, M; Spearing, R; Patton, W N

    1997-05-01

    We here present the case of a 70-year-old woman referred to our unit for investigation of bleeding. Investigations confirmed a high titre acquired Factor VIII inhibitor. In association there was relapse of systemic illness associated with anti-neutrophil cytoplasmic antibodies (atypical pattern) for which she had been treated five years previously. Immunosuppression was attempted, but it failed to have an impact both on the inhibitor titre and on the underlying disorder. The patient died from multi-organ failure and massive chest hemorrhage. Post-mortem showed necrotizing vasculitis of medium sized vessels at several sites, including the kidney, consistent with a diagnosis of polyarteritis nodosa. Although it is well recognised that Factor VIII inhibitors are found in conjunction with autoimmune disorders, this case is significant in that it is the first associated with histologically proven polyarteritis nodosa type vasculitis. The case illustrates the difficulties in the investigation and management of patients with acquired high titre Factor VIII inhibitors.

  10. Acquired Inhibitors: A Special Case of Bleeding in Older Adults

    Directory of Open Access Journals (Sweden)

    Richard G. Stefanacci

    2012-01-01

    Full Text Available This literature review is intended to familiarize physicians and healthcare providers of older adults with the potential causes of acute bleeding in older adults and to review diagnostic approaches that can produce prompt identification of acute bleeding and facilitate timely treatment. Adverse events from anticoagulant treatment and nonsteroidal anti-inflammatory drug (NSAID and aspirin use and abuse are among the most common causes of bleeding in older adults. Diagnoses infrequently considered—mild congenital hemophilia, acquired hemophilia, von Willebrand disease, and platelet dysfunction—can contribute to acute bleeding in older adults. The approach to management of bleeding varies. Management of acute bleeding in older adults can be challenging because these patients often have chronic comorbidity and have been prescribed long-term concomitant medications that can complicate diagnosis and treatment. Prompt recognition of acquired hemophilia, referral to an expert hematologist, and timely initiation of treatment could improve outcome in older patients who experience bleeding episodes resulting from this condition.

  11. Health related quality of life in patients with community-acquired pneumococcal pneumonia in France

    OpenAIRE

    Andrade, Luiz Flavio; Saba, Grèce; Ricard, Jean-Damien; Messika, Jonathan; Gaillat, Jacques; Bonnin, Pierre; Chidiac, Christian; Illes, Hajnal-Gabriela; Laurichesse, Henri; Detournay, Bruno; Petitpretz, Patrick; de Pouvourville, Gérard

    2018-01-01

    Background Community Acquired Pneumococcal Pneumonia is a lung infection that causes serious health problems and can lead to complications and death. The aim of this study was to observe and analyze health related quality of life after a hospital episode for patients with community acquired pneumococcal pneumonia in France. Methods A total of 524 individuals were enrolled prospectively in the study and were followed for 12 months after hospital discharge. Presence of streptococcus pneumoniae ...

  12. Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma.

    Science.gov (United States)

    Turner, Ryan B; Haynes, Harley A; Granter, Scott R; Miller, Danielle M

    2009-06-01

    Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized clinically by loosely hanging skin folds. There is often preceding cutaneous inflammatory eruption (ie, urticaria, eczema, erythema multiforme), and there is frequently internal organ involvement of the gastrointestinal, urogenital, pulmonary, and cardiovascular systems. Histologically, there are degenerative changes in the dermal elastic fibers. Of the few reports on this rare disorder, authors have speculated about an immune-mediated destruction of elastic fibers, and monoclonal gammopathies, such as multiple myeloma or heavy chain deposition disease, have a recognized association with CL. We report an unusual case of rapidly progressing acquired CL associated with leukocytoclastic vasculitis, IgA myeloma, and an immune complex-mediated glomerulonephritis. Light microscopy of the lax skin revealed complete absence of elastic fibers in areas of vasculitis.

  13. 12 CFR 617.7610 - What should the System institution do when it decides to sell acquired agricultural real estate?

    Science.gov (United States)

    2010-01-01

    ... decides to sell acquired agricultural real estate? 617.7610 Section 617.7610 Banks and Banking FARM CREDIT... institution do when it decides to sell acquired agricultural real estate? (a) Notify the previous owner, (1) Within 15 days of the System institution's decision to sell acquired agricultural real estate, it must...

  14. 12 CFR 617.7620 - What should the System institution do when it decides to sell acquired agricultural real estate...

    Science.gov (United States)

    2010-01-01

    ... decides to sell acquired agricultural real estate at a public auction? 617.7620 Section 617.7620 Banks and... What should the System institution do when it decides to sell acquired agricultural real estate at a public auction? System institutions electing to sell or lease acquired agricultural real estate or a...

  15. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

    Science.gov (United States)

    Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; Azbaoui, Safaa El; Agader, Aomar; Hassani, Amal; Hafidi, Naima El; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent

    2015-01-01

    Summary Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-γ immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey. PMID:25703555

  16. [Ceftaroline fosamil in community-acquired and nosocomial pneumonia].

    Science.gov (United States)

    Calbo, Esther; Zaragoza, Rafael

    2014-03-01

    Community-acquired pneumonia (CAP) is a common infection in developed countries and causes a large number of hospital admissions and deaths. In recent years, the incidence of this disease has increased, caused by progressive population aging. Following the introduction of the conjugate vaccine against Streptococcus pneumoniae, there have been significant epidemiological changes that require close monitoring because of the possible emergence of new patterns of resistance. This article aims to review the role of ceftaroline fosamil, a new parenteral cephalosporin with antibacterial activity against Gram-negative and Gram-positive pathogens, in the treatment of pneumonia. Several in vitro and in vivo studies have shown the efficacy of ceftaroline fosamil against penicillin-resistant S. pneumoniae and methicillin-resistant Staphylococcus aureus (MRSA). Additionally, ceftaroline has shown similar efficacy and safety to ceftriaxone in the treatment of community-acquired pneumonia with severe prognosis (prognostic severity index III and IV) in two phase III clinical trials. Although a non-inferiority design was used for these clinical trials, some data suggest a superior efficacy of ceftaroline, with earlier clinical response and higher cure rate in infections caused by S. pneumoniae, making this drug particularly interesting for critically-ill patients admitted to the intensive care unit. Ceftaroline may also be considered for empirical and directed treatment of MRSA pneumonia. Copyright © 2014 Elsevier España, S.L. All rights reserved.

  17. Toxicity of oral radiotherapy in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Cooper, J.S.; Fried, P.R.

    1987-01-01

    Although radiotherapy is a standard form of management of head and neck tumors, treatment of the oral cavity in patients who have the acquired immunodeficiency syndrome has produced unacceptable toxicity. Five such patients are described as a warning of enhanced toxicity of oral radiotherapy in this patient population

  18. Barriers to acquiring English reading and writing skills by Zulu ...

    African Journals Online (AJOL)

    This article reflects on an investigation into the barriers that hinder Zulu-speaking. English second language (L2) learners in the Foundation Phase from acquiring reading and writing skills. These barriers are categorised as contextual, language, school and intrinsic learner factors. A questionnaire based on these categories ...

  19. Acquire uterine vascular malformation: Clinical outcome of transarterial embolization

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Chae Hoon [Dept. of Radiology, Gangneung Asan Hospital, Gangneung (Korea, Republic of); Yang, Seung Boo; Goo, Dong Erk; Kim, Yong Jae; Lee, Jae Myung; Lee, Woong Hee [Dept. of Radiology, Soonchunhyang University Gumi Hospital, Gumi (Korea, Republic of)

    2017-02-15

    To evaluate clinical outcomes of transarterial embolization of bilateral uterine arteries (UAE) in patients with acquired uterine vascular malformation (UVM). This retrospective study was performed on the medical records of all 19 patients who underwent transarterial embolization of bilateral UAE for the treatment of symptomatic UVMs from January 2003 to June 2011. Embolization was performed via the unilateral femoral artery approach with a catheter and angiographic techniques. Clinical success was defined as definitive resolution of abnormal vaginal bleeding. Post-procedural complications included all adverse events related to the embolization procedure. A total of 20 procedures were performed in 19 patients. One patient required repeat embolization because of incomplete embolization related to prominent high flow malformation. Clinically, in all patients, bleeding was controlled immediately after embolization. No complications occurred in all patients during the follow up period. In all patients who underwent successful UAE, menstrual cycles were normally restored within 1-2 months. Normal pregnancy with term delivery was observed in two of the 19 cases. Transarterial bilateral UAE is a safe and effective treatment in patients with vaginal bleeding caused by acquired UVM, and it allows the possibility of future pregnancy.

  20. Acquire uterine vascular malformation: Clinical outcome of transarterial embolization

    International Nuclear Information System (INIS)

    Kang, Chae Hoon; Yang, Seung Boo; Goo, Dong Erk; Kim, Yong Jae; Lee, Jae Myung; Lee, Woong Hee

    2017-01-01

    To evaluate clinical outcomes of transarterial embolization of bilateral uterine arteries (UAE) in patients with acquired uterine vascular malformation (UVM). This retrospective study was performed on the medical records of all 19 patients who underwent transarterial embolization of bilateral UAE for the treatment of symptomatic UVMs from January 2003 to June 2011. Embolization was performed via the unilateral femoral artery approach with a catheter and angiographic techniques. Clinical success was defined as definitive resolution of abnormal vaginal bleeding. Post-procedural complications included all adverse events related to the embolization procedure. A total of 20 procedures were performed in 19 patients. One patient required repeat embolization because of incomplete embolization related to prominent high flow malformation. Clinically, in all patients, bleeding was controlled immediately after embolization. No complications occurred in all patients during the follow up period. In all patients who underwent successful UAE, menstrual cycles were normally restored within 1-2 months. Normal pregnancy with term delivery was observed in two of the 19 cases. Transarterial bilateral UAE is a safe and effective treatment in patients with vaginal bleeding caused by acquired UVM, and it allows the possibility of future pregnancy

  1. Localization of Haemophilus ducreyi in naturally acquired chancroidal ulcers.

    Science.gov (United States)

    Bauer, Margaret E; Townsend, Carisa A; Ronald, Allan R; Spinola, Stanley M

    2006-08-01

    Haemophilus ducreyi causes the sexually transmitted genital ulcer disease chancroid. In human inoculation experiments, bacteria colocalize with neutrophils and macrophages but remain extracellular. The organism also colocalizes with collagen and fibrin but not with keratinocytes, fibroblasts, laminin, or fibronectin. These relationships are established by 48 h postinoculation and persist through the pustular stage of disease. To extend these observations to the ulcerative stage of disease, and to compare results in the human model with those of natural disease, we obtained biopsies from patients with naturally acquired chancroid. All ulcers were culture positive for H. ducreyi and histologically very similar to pustules from the human model. Staining with H. ducreyi-specific monoclonal antibodies demonstrated H. ducreyi within 5 biopsies. The organism was chiefly found within the granulocytic infiltrate of the ulcer. Dual staining for H. ducreyi and eukaryotic tissue components showed that H. ducreyi colocalized with neutrophils and fibrin at the ulcerative stage of disease. No bacteria were associated with keratinocytes, fibroblasts, or collagen. Overall, these findings are consistent with results from the human model. This is the first reported study to localize bacteria specifically identified as H. ducreyi within naturally acquired chancroid.

  2. Comparative antimicrobial susceptibility of aerobic and facultative bacteria from community-acquired bacteremia to ertapenem in Taiwan

    Directory of Open Access Journals (Sweden)

    Fung Chang-Phone

    2007-07-01

    Full Text Available Abstract Background Ertapenem is a once-a-day carbapenem and has excellent activity against many gram-positive and gram-negative aerobic, facultative, and anaerobic bacteria. The susceptibility of isolates of community-acquired bacteremia to ertapenem has not been reported yet. The present study assesses the in vitro activity of ertapenem against aerobic and facultative bacterial pathogens isolated from patients with community-acquired bacteremia by determining and comparing the MICs of cefepime, cefoxitin, ceftazidime, ceftriaxone, ertapenem, piperacillin, piperacillin-tazobactam, ciprofloxacin, amikacin and gentamicin. The prevalence of extended broad spectrum β-lactamases (ESBL producing strains of community-acquired bacteremia and their susceptibility to these antibiotics are investigated. Methods Aerobic and facultative bacteria isolated from blood obtained from hospitalized patients with community-acquired bacteremia within 48 hours of admission between August 1, 2004 and September 30, 2004 in Chang Gung Memorial Hospital at Keelung, Taiwan, were identified using standard procedures. Antimicrobial susceptibility was evaluated by Etest according to the standard guidelines provided by the manufacturer and document M100-S16 Performance Standards of the Clinical Laboratory of Standard Institute. Antimicrobial agents including cefepime, cefoxitin, ceftazidime, ceftriaxone, ertapenem, piperacillin, piperacillin-tazobactam, ciprofloxacin, amikacin and gentamicin were used against the bacterial isolates to test their MICs as determined by Etest. For Staphylococcus aureus isolates, MICs of oxacillin were also tested by Etest to differentiate oxacillin-sensitive and oxacillin-resistant S. aureus. Results Ertapenem was highly active in vitro against many aerobic and facultative bacterial pathogens commonly recovered from patients with community-acquired bacteremia (128/159, 80.5 %. Ertapenem had more potent activity than ceftriaxone, piperacillin

  3. 25 CFR 166.220 - What are the basic steps for acquiring a permit through negotiation?

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false What are the basic steps for acquiring a permit through negotiation? 166.220 Section 166.220 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAND AND WATER GRAZING PERMITS Permit Requirements Obtaining A Permit § 166.220 What are the basic steps for acquiring a permit through negotiation? The...

  4. [Increasing incidence of community-acquired pneumonia caused by atypical microorganisms].

    Science.gov (United States)

    Tazón-Varela, M A; Alonso-Valle, H; Muñoz-Cacho, P; Gallo-Terán, J; Piris-García, X; Pérez-Mier, L A

    2017-09-01

    Knowing the most common microorganisms in our environment can help us to make proper empirical treatment decisions. The aim is to identify those microorganisms causing community-acquired pneumonia. An observational, descriptive and prospective study was conducted, including patients over 14 years with a clinical and radiographic diagnosis of community-acquired pneumonia during a 383 consecutive day period. A record was made of sociodemographic variables, personal history, prognostic severity scales, progress, and pathogenic agents. The aetiological diagnosis was made using blood cultures, detection of Streptococcus pneumoniae and Legionella pneumophila urinary antigens, sputum culture, influenza virus and Streptococcus pyogenes detection. Categorical variables are presented as absolute values and percentages, and continuous variables as their means and standard deviations. Of the 287 patients included in the study (42% women, mean age 66±22 years), 10.45% died and 70% required hospital admission. An aetiological diagnosis was achieved in 43 patients (14.98%), with 16 microorganisms found in 59 positive samples. The most frequently isolated pathogen was Streptococcus pneumonia (24/59, 41%), followed by gram-negative enteric bacilli, Klebsiella pneumonia, Escherichia coli, Serratia marcescens and Enterobacter cloacae isolated in 20% of the samples (12/59), influenza virus (5/59, 9%), methicillin-resistant Staphylococcus aureus (3/59, 5%), Pseudomonas aeruginosa (2/59, 3%), Moraxella catarrhalis (2/59, 3%), Legionella pneumophila (2/59, 3%), and Haemophilus influenza (2/59, 3%). Polymicrobial infections accounted for 14% (8/59). A high percentage of atypical microorganisms causing community-acquired pneumonia were found. Copyright © 2016 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Potential Cost-effectiveness of Early Identification of Hospital-acquired Infection in Critically Ill Patients.

    Science.gov (United States)

    Tsalik, Ephraim L; Li, Yanhong; Hudson, Lori L; Chu, Vivian H; Himmel, Tiffany; Limkakeng, Alex T; Katz, Jason N; Glickman, Seth W; McClain, Micah T; Welty-Wolf, Karen E; Fowler, Vance G; Ginsburg, Geoffrey S; Woods, Christopher W; Reed, Shelby D

    2016-03-01

    Limitations in methods for the rapid diagnosis of hospital-acquired infections often delay initiation of effective antimicrobial therapy. New diagnostic approaches offer potential clinical and cost-related improvements in the management of these infections. We developed a decision modeling framework to assess the potential cost-effectiveness of a rapid biomarker assay to identify hospital-acquired infection in high-risk patients earlier than standard diagnostic testing. The framework includes parameters representing rates of infection, rates of delayed appropriate therapy, and impact of delayed therapy on mortality, along with assumptions about diagnostic test characteristics and their impact on delayed therapy and length of stay. Parameter estimates were based on contemporary, published studies and supplemented with data from a four-site, observational, clinical study. Extensive sensitivity analyses were performed. The base-case analysis assumed 17.6% of ventilated patients and 11.2% of nonventilated patients develop hospital-acquired infection and that 28.7% of patients with hospital-acquired infection experience delays in appropriate antibiotic therapy with standard care. We assumed this percentage decreased by 50% (to 14.4%) among patients with true-positive results and increased by 50% (to 43.1%) among patients with false-negative results using a hypothetical biomarker assay. Cost of testing was set at $110/d. In the base-case analysis, among ventilated patients, daily diagnostic testing starting on admission reduced inpatient mortality from 12.3 to 11.9% and increased mean costs by $1,640 per patient, resulting in an incremental cost-effectiveness ratio of $21,389 per life-year saved. Among nonventilated patients, inpatient mortality decreased from 7.3 to 7.1% and costs increased by $1,381 with diagnostic testing. The resulting incremental cost-effectiveness ratio was $42,325 per life-year saved. Threshold analyses revealed the probabilities of developing

  6. Erlotinib is a viable treatment for tumors with acquired resistance to cetuximab

    Science.gov (United States)

    Brand, Toni M; Dunn, Emily F; Iida, Mari; Myers, Rebecca A; Kostopoulos, Kellie T; Li, Chunrong; Peet, Chimera R

    2011-01-01

    The epidermal growth factor receptor (EGFR) is an ubiquitously expressed receptor tyrosine kinase (RTK) and is recognized as a key mediator of tumorigenesis in many human tumors. Currently there are five EGFR inhibitors used in oncology, two monoclonal antibodies (panitumumab and cetuximab) and three tyrosine kinase inhibitors (erlotinib, gefitinib and lapatinib). Both strategies of EGFR inhibition have demonstrated clinical success; however, many tumors remain non-responsive or acquire resistance during therapy. To explore potential molecular mechanisms of acquired resistance to cetuximab we previously established a series of cetuximab-resistant clones by chronically exposing the NCI-H226 NSCLC cell line to escalating doses of cetuximab. Cetuximab-resistant clones exhibited a dramatic increase in the activation of EGFR, HER2 and HER3 receptors as well as increased signaling through the MAP K and AKT pathways. RNAi studies demonstrated dependence of cetuximab-resistant clones on the EGFR signaling network. These findings prompted investigation on whether or not cells with acquired resistance to cetuximab would be sensitive to the EGFR targeted TKI erlotinib. In vitro, erlotinib was able to decrease signaling through the EGFR axis, decrease cellular proliferation and induce apoptosis. To determine if erlotinib could have therapeutic benefit in vivo, we established cetuximab-resistant NCI-H226 mouse xenografts, and subsequently treated them with erlotinib. Mice harboring cetuximab-resistant tumors treated with erlotinib exhibited either a tumor regression or growth delay as compared with vehicle controls. Analysis of the erlotinib treated tumors demonstrated a decrease in cell proliferation and increased rates of apoptosis. The work presented herein suggests that (1) cells with acquired resistance to cetuximab maintain their dependence on EGFR and (2) tumors developing resistance to cetuximab can benefit from subsequent treatment with erlotinib, providing rationale

  7. Acquiring a four-dimensional computed tomography dataset using an external respiratory signal

    International Nuclear Information System (INIS)

    Vedam, S S; Keall, P J; Kini, V R; Mostafavi, H; Shukla, H P; Mohan, R

    2003-01-01

    Four-dimensional (4D) methods strive to achieve highly conformal radiotherapy, particularly for lung and breast tumours, in the presence of respiratory-induced motion of tumours and normal tissues. Four-dimensional radiotherapy accounts for respiratory motion during imaging, planning and radiation delivery, and requires a 4D CT image in which the internal anatomy motion as a function of the respiratory cycle can be quantified. The aims of our research were (a) to develop a method to acquire 4D CT images from a spiral CT scan using an external respiratory signal and (b) to examine the potential utility of 4D CT imaging. A commercially available respiratory motion monitoring system provided an 'external' tracking signal of the patient's breathing. Simultaneous recording of a TTL 'X-Ray ON' signal from the CT scanner indicated the start time of CT image acquisition, thus facilitating time stamping of all subsequent images. An over-sampled spiral CT scan was acquired using a pitch of 0.5 and scanner rotation time of 1.5 s. Each image from such a scan was sorted into an image bin that corresponded with the phase of the respiratory cycle in which the image was acquired. The complete set of such image bins accumulated over a respiratory cycle constitutes a 4D CT dataset. Four-dimensional CT datasets of a mechanical oscillator phantom and a patient undergoing lung radiotherapy were acquired. Motion artefacts were significantly reduced in the images in the 4D CT dataset compared to the three-dimensional (3D) images, for which respiratory motion was not accounted. Accounting for respiratory motion using 4D CT imaging is feasible and yields images with less distortion than 3D images. 4D images also contain respiratory motion information not available in a 3D CT image

  8. Infection Control and Prevention: A Review of Hospital-Acquired Infections and the Economic Implications

    OpenAIRE

    Reed, Deoine; Kemmerly, Sandra A.

    2009-01-01

    The Centers for Disease Control and Prevention estimates that 2 million patients suffer from hospital-acquired infections every year and nearly 100,000 of them die. Most of these medical errors are preventable. Hospital-acquired infections result in up to $4.5 billion in additional healthcare expenses annually. The U.S. government has responded to this financial loss by focusing on healthcare quality report cards and by taking strong action to curb healthcare spending. The Medicare Program ha...

  9. Design of two molecular methodologies for the rapid identification of Colombian community-acquired methicillin-resistant Staphylococcus aureus isolates

    OpenAIRE

    Escobar, Javier Antonio; Gómez, Ingrid Tatiana; Murillo, Martha Johanna; Castro, Betsy Esperanza; Chavarro, Bibiana; Márquez, Ricaurte Alejandro; Vanegas, Natasha

    2012-01-01

    Introduction. Community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infections are found with increasing the frequency, both in healthy individuals in the community and in hospitalized patients. In Colombia and the Andean region, CA-MRSA isolates have a genetic background that is related to the pandemic USA300 clone. Objective. Two molecular methods are designed and standardized for the rapid differentiation of Colombian community-acquired and hospital-acquired methicillin-...

  10. Burden of Hospital Acquired Infections and Antimicrobial Use in Vietnamese Adult Intensive Care Units.

    Directory of Open Access Journals (Sweden)

    Vu Dinh Phu

    Full Text Available Vietnam is a lower middle-income country with no national surveillance system for hospital-acquired infections (HAIs. We assessed the prevalence of hospital-acquired infections and antimicrobial use in adult intensive care units (ICUs across Vietnam.Monthly repeated point prevalence surveys were systematically conducted to assess HAI prevalence and antimicrobial use in 15 adult ICUs across Vietnam. Adults admitted to participating ICUs before 08:00 a.m. on the survey day were included.Among 3287 patients enrolled, the HAI prevalence was 29.5% (965/3266 patients, 21 missing. Pneumonia accounted for 79.4% (804/1012 of HAIs Most HAIs (84.5% [855/1012] were acquired in the survey hospital with 42.5% (363/855 acquired prior to ICU admission and 57.5% (492/855 developed during ICU admission. In multivariate analysis, the strongest risk factors for HAI acquired in ICU were: intubation (OR 2.76, urinary catheter (OR 2.12, no involvement of a family member in patient care (OR 1.94, and surgery after admission (OR 1.66. 726 bacterial isolates were cultured from 622/1012 HAIs, most frequently Acinetobacter baumannii (177/726 [24.4%], Pseudomonas aeruginosa (100/726 [13.8%], and Klebsiella pneumoniae (84/726 [11.6%], with carbapenem resistance rates of 89.2%, 55.7%, and 14.9% respectively. Antimicrobials were prescribed for 84.8% (2787/3287 patients, with 73.7% of patients receiving two or more. The most common antimicrobial groups were third generation cephalosporins, fluoroquinolones, and carbapenems (20.1%, 19.4%, and 14.1% of total antimicrobials, respectively.A high prevalence of HAIs was observed, mainly caused by Gram-negative bacteria with high carbapenem resistance rates. This in combination with a high rate of antimicrobial use illustrates the urgent need to improve rational antimicrobial use and infection control efforts.

  11. Clinicians' ability, motivation, and opportunity to acquire and transfer knowledge: An age-driven perspective.

    Science.gov (United States)

    Profili, Silvia; Sammarra, Alessia; Dandi, Roberto; Mascia, Daniele

    2017-11-08

    Many countries are seeing a dramatic increase in the average age of their clinicians. The literature often highlights the challenges of high replacement costs and the need for strategies to retain older personnel. Less discussed are the potential pitfalls of knowledge acquisition and transfer that accompany this aging issue. We propose a conceptual framework for understanding how clinicians' age interact with ability, motivation, and opportunity to predict clinical knowledge transfer and acquisition in health care organizations. This study integrates life-span development perspectives with the ability-motivation-opportunity framework to develop a number of testable propositions on the interaction between age and clinicians' ability, motivation, and opportunity to acquire and transfer clinical knowledge. We posit that the interaction between ability (the knowledge and skills to acquire knowledge), motivation (the willingness to acquire and transfer knowledge), and opportunity (resources required for acquiring and transferring knowledge) is a determinant of successful knowledge management. We also suggest that clinicians' age-and more specifically, the cognitive and motivational changes that accompany aging-moderates these relationships. This study contributes to existing research by offering a set of testable propositions for future research. These propositions will hopefully encourage empirical research into this important topic and lead to guidelines for reducing the risks of organizational knowledge loss due to aging. We suggest several ways that health care organizations can tailor managerial practices in order to help capitalize on the knowledge-based resources held by their younger and older clinicians. Such initiatives may affect employees' ability (e.g., by providing specific training programs), motivation (e.g., by expanding subjective perceptions of future time at work), and opportunities (e.g., by providing mentoring, reverse mentoring, and coaching

  12. Paraneoplastic addisonian pigmentation and acquired ichthyosis as presenting features of multiple myeloma

    International Nuclear Information System (INIS)

    Dar, N.R.; Raza, N.

    2010-01-01

    Black brown hyperpigmentation of the mucosae, sun exposed skin, palmar creases and frictional sites (Addisonian pigmentation) is characteristic of Addison disease. However, it can also occur as a para neoplastic manifestation of tumours like bronchogenic carcinoma. Acquired ichthyosis starts later in life and can also be a para neoplastic presentation.We report a unique combination of para neoplastic Addisonian pigmentation and acquired ichthyosis as presenting features in a patient with undiagnosed multiple myeloma. To the best of our knowledge this combination of para neoplastic dermatosis has not been documented before in multiple myeloma. It is concluded that the presence of more than one suspicious dermatosis may be an indicator of being para neoplastic requiring necessary work-up. (author)

  13. Battlefield-Acquired Immunogenicity to Metals Affects Orthopaedic Implant Outcome

    Science.gov (United States)

    2015-10-01

    Award Number: W81XWH-10-2-0138 TITLE: Battlefield-Acquired Immunogenicity to Metals Affects Orthopaedic Implant Outcome PRINCIPAL INVESTIGATOR...Immunogenicity to Metals Affects Orthopaedic pla t Outcome 5b. GRANT NUMBER W91ZSQ0135N646 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Nadim James...DISTRIBUTION / AVAILABILITY STATEMENT Approved for public release; distribution unlimited 13. SUPPLEM ENTARY NOTES 14. ABSTRACT The effects of battlefield

  14. Neural Basis of Acquired Amusia and Its Recovery after Stroke.

    Science.gov (United States)

    Sihvonen, Aleksi J; Ripollés, Pablo; Leo, Vera; Rodríguez-Fornells, Antoni; Soinila, Seppo; Särkämö, Teppo

    2016-08-24

    Although acquired amusia is a relatively common disorder after stroke, its precise neuroanatomical basis is still unknown. To evaluate which brain regions form the neural substrate for acquired amusia and its recovery, we performed a voxel-based lesion-symptom mapping (VLSM) and morphometry (VBM) study with 77 human stroke subjects. Structural MRIs were acquired at acute and 6 month poststroke stages. Amusia and aphasia were behaviorally assessed at acute and 3 month poststroke stages using the Scale and Rhythm subtests of the Montreal Battery of Evaluation of Amusia (MBEA) and language tests. VLSM analyses indicated that amusia was associated with a lesion area comprising the superior temporal gyrus, Heschl's gyrus, insula, and striatum in the right hemisphere, clearly different from the lesion pattern associated with aphasia. Parametric analyses of MBEA Pitch and Rhythm scores showed extensive lesion overlap in the right striatum, as well as in the right Heschl's gyrus and superior temporal gyrus. Lesions associated with Rhythm scores extended more superiorly and posterolaterally. VBM analysis of volume changes from the acute to the 6 month stage showed a clear decrease in gray matter volume in the right superior and middle temporal gyri in nonrecovered amusic patients compared with nonamusic patients. This increased atrophy was more evident in anterior temporal areas in rhythm amusia and in posterior temporal and temporoparietal areas in pitch amusia. Overall, the results implicate right temporal and subcortical regions as the crucial neural substrate for acquired amusia and highlight the importance of different temporal lobe regions for the recovery of amusia after stroke. Lesion studies are essential in uncovering the brain regions causally linked to a given behavior or skill. For music perception ability, previous lesion studies of amusia have been methodologically limited in both spatial accuracy and time domain as well as by small sample sizes, providing

  15. The Genomic Basis of Intrinsic and Acquired Antibiotic Resistance in the Genus Serratia

    Directory of Open Access Journals (Sweden)

    Luisa Sandner-Miranda

    2018-05-01

    Full Text Available Serratia marcescens, a member of the Enterobacteriaceae family, was long thought to be a non-pathogenic bacterium prevalent in environmental habitats. Together with other members of this genus, it has emerged in recent years as an opportunistic nosocomial pathogen causing various types of infections. One important feature of pathogens belonging to this genus is their intrinsic and acquired resistance to a variety of antibiotic families, including β-lactam, aminoglycosides, quinolones and polypeptide antibiotics. The aim of this study was to elucidate which genes participate in the intrinsic and acquired antibiotic resistance of this genus in order to determine the Serratia genus resistome. We performed phylogenomic and comparative genomic analyses using 32 Serratia spp. genomes deposited in the NCBI GenBank from strains isolated from different ecological niches and different lifestyles. S. marcescens strain SmUNAM836, which was previously isolated from a Mexican adult with obstructive pulmonary disease, was included in this study. The results show that most of the antibiotic resistance genes (ARGs were found on the chromosome, and to a lesser degree, on plasmids and transposons acquired through horizontal gene transfer. Four strains contained the gyrA point mutation in codon Ser83 that confers quinolone resistance. Pathogenic and environmental isolates presented a high number of ARGs, especially genes associated with efflux systems. Pathogenic strains, specifically nosocomial strains, presented more acquired resistance genes than environmental isolates. We may conclude that the environment provides a natural reservoir for antibiotic resistance, which has been underestimated in the medical field.

  16. The Genomic Basis of Intrinsic and Acquired Antibiotic Resistance in the Genus Serratia

    Science.gov (United States)

    Sandner-Miranda, Luisa; Vinuesa, Pablo; Cravioto, Alejandro; Morales-Espinosa, Rosario

    2018-01-01

    Serratia marcescens, a member of the Enterobacteriaceae family, was long thought to be a non-pathogenic bacterium prevalent in environmental habitats. Together with other members of this genus, it has emerged in recent years as an opportunistic nosocomial pathogen causing various types of infections. One important feature of pathogens belonging to this genus is their intrinsic and acquired resistance to a variety of antibiotic families, including β-lactam, aminoglycosides, quinolones and polypeptide antibiotics. The aim of this study was to elucidate which genes participate in the intrinsic and acquired antibiotic resistance of this genus in order to determine the Serratia genus resistome. We performed phylogenomic and comparative genomic analyses using 32 Serratia spp. genomes deposited in the NCBI GenBank from strains isolated from different ecological niches and different lifestyles. S. marcescens strain SmUNAM836, which was previously isolated from a Mexican adult with obstructive pulmonary disease, was included in this study. The results show that most of the antibiotic resistance genes (ARGs) were found on the chromosome, and to a lesser degree, on plasmids and transposons acquired through horizontal gene transfer. Four strains contained the gyrA point mutation in codon Ser83 that confers quinolone resistance. Pathogenic and environmental isolates presented a high number of ARGs, especially genes associated with efflux systems. Pathogenic strains, specifically nosocomial strains, presented more acquired resistance genes than environmental isolates. We may conclude that the environment provides a natural reservoir for antibiotic resistance, which has been underestimated in the medical field.

  17. Acquiring 4D thoracic CT scans using a multislice helical method

    International Nuclear Information System (INIS)

    Keall, P J; Starkschall, G; Shukla, H; Forster, K M; Ortiz, V; Stevens, C W; Vedam, S S; George, R; Guerrero, T; Mohan, R

    2004-01-01

    Respiratory motion degrades anatomic position reproducibility during imaging, necessitates larger margins during radiotherapy planning and causes errors during radiation delivery. Computed tomography (CT) scans acquired synchronously with the respiratory signal can be used to reconstruct 4D CT scans, which can be employed for 4D treatment planning to explicitly account for respiratory motion. The aim of this research was to develop, test and clinically implement a method to acquire 4D thoracic CT scans using a multislice helical method. A commercial position-monitoring system used for respiratory-gated radiotherapy was interfaced with a third generation multislice scanner. 4D cardiac reconstruction methods were modified to allow 4D thoracic CT acquisition. The technique was tested on a phantom under different conditions: stationary, periodic motion and non-periodic motion. 4D CT was also implemented for a lung cancer patient with audio-visual breathing coaching. For all cases, 4D CT images were successfully acquired from eight discrete breathing phases, however, some limitations of the system in terms of respiration reproducibility and breathing period relative to scanner settings were evident. Lung mass for the 4D CT patient scan was reproducible to within 2.1% over the eight phases, though the lung volume changed by 20% between end inspiration and end expiration (870 cm 3 ). 4D CT can be used for 4D radiotherapy, respiration-gated radiotherapy, 'slow' CT acquisition and tumour motion studies

  18. Is Ocean Reflectance Acquired by Citizen Scientists Robust for Science Applications?

    Directory of Open Access Journals (Sweden)

    Yuyan Yang

    2018-05-01

    Full Text Available Monitoring the dynamics of the productivity of ocean water and how it affects fisheries is essential for management. It requires data on proper spatial and temporal scales, which can be provided by operational ocean colour satellites. However, accurate productivity data from ocean colour imagery is only possible with proper validation of, for instance, the atmospheric correction applied to the images. In situ water reflectance data are of great value due to the requirements for validation and reflectance is traditionally measured with the Surface Acquisition System (SAS solar tracker system. Recently, an application for mobile devices, “HydroColor”, was developed to acquire water reflectance data. We examined the accuracy of the water reflectance measures acquired by HydroColor with the help of both trained and untrained citizens, under different environmental conditions. We used water reflectance data acquired by SAS solar tracker and by HydroColor onboard the BC ferry Queen of Oak Bay from July to September 2016. Monte Carlo permutation F tests were used to assess whether the differences between measurements collected by SAS solar tracker and HydroColor with citizens were significant. Results showed that citizen HydroColor measurements were accurate in red, green, and blue bands, as well as red/green and red/blue ratios under different environmental conditions. In addition, we found that a trained citizen obtained higher quality HydroColor data especially under clear skies at noon.

  19. Importance of pharmacokinetic studies in the management of acquired factor X deficiency.

    Science.gov (United States)

    Lim, Ming Y; McCarthy, Timothy; Chen, Sheh-Li; Rollins-Raval, Marian A; Ma, Alice D

    2016-01-01

    Up to 14% of individuals with systemic AL amyloidosis develop acquired factor X deficiency, which occurs due to adsorption of factor X onto amyloid fibrils. Although baseline factor X levels are not predictive of bleeding risk in these patients, serious hemorrhagic complications can occur, particularly during invasive procedures. Optimal management strategies to attenuate bleeding risk in these patients are unknown. We describe our experience in the management of acquired factor X deficiency, secondary to systemic AL amyloidosis, in a case series of three patients who received prothrombin complex concentrates (PCCs) for treatment and prevention of bleeding events. We performed a retrospective review extracting information on baseline demographics, laboratory data, pharmacokinetic (PK) studies, and clinically documented bleeding events. Our case series demonstrates that individuals with acquired factor X deficiency secondary to amyloidosis have variable laboratory and clinical responses to PCCs. This is likely due to distinct amyloid loads and fibril sequences, leading to different binding avidities for factor X. Our data emphasize the importance of performing PK testing prior to any invasive procedures to determine the dose and frequency interval to achieve adequate factor X levels for hemostasis, given the variable response between individuals. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Use of a patient hand hygiene protocol to reduce hospital-acquired infections and improve nurses' hand washing.

    Science.gov (United States)

    Fox, Cherie; Wavra, Teresa; Drake, Diane Ash; Mulligan, Debbie; Bennett, Yvonne Pacheco; Nelson, Carla; Kirkwood, Peggy; Jones, Louise; Bader, Mary Kay

    2015-05-01

    Critically ill patients are at marked risk of hospital-acquired infections, which increase patients' morbidity and mortality. Registered nurses are the main health care providers of physical care, including hygiene to reduce and prevent hospital-acquired infections, for hospitalized critically ill patients. To investigate a new patient hand hygiene protocol designed to reduce hospital-acquired infection rates and improve nurses' hand-washing compliance in an intensive care unit. A preexperimental study design was used to compare 12-month rates of 2 common hospital-acquired infections, central catheter-associated bloodstream infection and catheter-associated urinary tract infection, and nurses' hand-washing compliance measured before and during use of the protocol. Reductions in 12-month infection rates were reported for both types of infections, but neither reduction was statistically significant. Mean 12-month nurse hand-washing compliance also improved, but not significantly. A hand hygiene protocol for patients in the intensive care unit was associated with reductions in hospital-acquired infections and improvements in nurses' hand-washing compliance. Prevention of such infections requires continuous quality improvement efforts to monitor lasting effectiveness as well as investigation of strategies to eliminate these infections. ©2015 American Association of Critical-Care Nurses.

  1. Acquired radioresistance of cancer and the AKT/GSK3β/cyclin D1 overexpression cycle

    International Nuclear Information System (INIS)

    Shimura, Tsutomu

    2011-01-01

    Fractionated radiotherapy (RT) is widely used in cancer therapy for its advantages in the preservation of normal tissues. However, repopulation of surviving tumor cells during fractionated RT limits the efficacy of RT. In fact, repopulating tumors often acquire radioresistance and this is the major cause of failure of RT. We have recently demonstrated that human tumor cells acquire radioresistance when exposed to fractionated radiation (FR) of X-rays every 12 hours for 1 month. The acquired radioresistance was associated with overexpression of cyclin D1, a result of a series of molecular changes; constitutive activation of DNA-PK and AKT with concomitant down-regulation of glycogen synthase kinase-3β (GSK3β) which results in suppression of cyclin D1 proteolysis. Aberrant cyclin D1 overexpression in S-phase induced DNA double strand breaks which activated DNA-PK and established the vicious cycle of cycling D1 overexpression. This overexpression of cyclin D1 is responsible for the radioresistance phenotype of long-term FR cells, since this phenotype was completely abrogated by treatment of FR cells by the AKT/PKB signaling inhibitor (API-2), an AKT inhibitor or by a Cdk4 inhibitor. Thus, targeting the AKT/GSK3β/cyclin D1/Cdk4 pathway can be an efficient modality to suppress acquired radioresistance of tumor cells. In this article, I overview the newly discovered molecular mechanisms underlying acquired radioresistance of tumor cells induced by FR, and propose a strategy for eradication of tumors using fractionated RT by overcoming tumor radioresistance. (author)

  2. Curiosity Search: Producing Generalists by Encouraging Individuals to Continually Explore and Acquire Skills throughout Their Lifetime.

    Science.gov (United States)

    Stanton, Christopher; Clune, Jeff

    2016-01-01

    Natural animals are renowned for their ability to acquire a diverse and general skill set over the course of their lifetime. However, research in artificial intelligence has yet to produce agents that acquire all or even most of the available skills in non-trivial environments. One candidate algorithm for encouraging the production of such individuals is Novelty Search, which pressures organisms to exhibit different behaviors from other individuals. However, we hypothesized that Novelty Search would produce sub-populations of specialists, in which each individual possesses a subset of skills, but no one organism acquires all or most of the skills. In this paper, we propose a new algorithm called Curiosity Search, which is designed to produce individuals that acquire as many skills as possible during their lifetime. We show that in a multiple-skill maze environment, Curiosity Search does produce individuals that explore their entire domain, while a traditional implementation of Novelty Search produces specialists. However, we reveal that when modified to encourage intra-life behavioral diversity, Novelty Search can produce organisms that explore almost as much of their environment as Curiosity Search, although Curiosity Search retains a significant performance edge. Finally, we show that Curiosity Search is a useful helper objective when combined with Novelty Search, producing individuals that acquire significantly more skills than either algorithm alone.

  3. Epidemic of medical errors and hospital-acquired infections: systemic and social causes

    National Research Council Canada - National Science Library

    Charney, William

    2012-01-01

    ...) and pharmaceutical errors combined are the second or third leading killer of Americans annually: approximately 300,000 die from a combination of medical errors, hospital acquired infections (HAIs...

  4. Implantation of cultured thymic fragments in patients with acquired immunodeficiency syndrome

    NARCIS (Netherlands)

    Danner, S. A.; Schuurman, H. J.; Lange, J. M.; Gmelig Meyling, F. H.; Schellekens, P. T.; Huber, J.; Kater, L.

    1986-01-01

    Cultured thymic fragments were implanted in one patient with acquired immunodeficiency syndrome (AIDS)-related complex (ARC) and in eight AIDS patients with opportunistic infections (OIs, four patients), Kaposi's sarcoma (KS, two patients), or both (two patients). Thereafter, objective clinical

  5. 41 CFR 102-33.70 - What directives must we follow when planning to acquire Government aircraft?

    Science.gov (United States)

    2010-07-01

    ... Parts Planning to Acquire Government Aircraft § 102-33.70 What directives must we follow when planning... 41 Public Contracts and Property Management 3 2010-07-01 2010-07-01 false What directives must we follow when planning to acquire Government aircraft? 102-33.70 Section 102-33.70 Public Contracts and...

  6. Hospital-acquired infections in a Nigerian tertiary health facility: An ...

    African Journals Online (AJOL)

    Hospital-acquired infections in a Nigerian tertiary health facility: An audit of surveillance reports. ... This study evaluated the occurrence of HAI in a foremost tertiary health facility over a 5-year period for the purpose of reinforcing control efforts. Materials and Methods: A retrospective survey of records from the infection control ...

  7. On the difficulties of acquiring mathematical experience: Case rural education

    DEFF Research Database (Denmark)

    Booss-Bavnbek, Bernhelm

    2014-01-01

    Based on a variety of philosophical approaches and my own work for decades in pure and applied mathematics teaching and research, I explain my view upon the basic difficulties of acquiring the “Mathematical Experience” (in the sense of P.J. Davis and R. Hersh 1981) and submit a list of claims how...

  8. [Effective immunosuppresive therapies including steroid pulse treatment for intramuscular hematoma in iliopsoas in acquired hemophilia].

    Science.gov (United States)

    Mohri, Hiroshi; Tanabe, Juichi; Takagi, Hiroshi; Murata, Takashi

    2007-12-01

    Acquired hemophilia is a life-threatening bleeding disorder by the development of autoantibody against factor VIII. The therapeutic approach relies on steroid, cyclophosphamide and/or cyclosporine. A 64-year-old man was referred to our hospital with extensive hematoma in both psoas muscles, severe anemia of 6.8 g/dl, prolonged activated partial thromboplastin time over 200 seconds, and factor VIII coagulation activity (FVIII: C) of 1.9%. A factor VIII inhibitor was detected at 118 Bethesda units (BU). The diagnosis of acquired hemophilia was made in the absence of a detectable cause. The inhibitor was IgG with a subclass of IgG4 and reacted with 72 kDa fragment of factor VIII light chain. Steroid pulse therapy following steroid treatment resulted in the resolution of acquired hemophila with marked and prolonged efficacy.

  9. Convergent Akt activation drives acquired EGFR inhibitor resistance in lung cancer

    DEFF Research Database (Denmark)

    Jacobsen, Kirstine; Bertran-Alamillo, Jordi; Molina, Miguel Angel

    2017-01-01

    Non-small-cell lung cancer patients with activating epidermal growth factor receptor (EGFR) mutations typically benefit from EGFR tyrosine kinase inhibitor treatment. However, virtually all patients succumb to acquired EGFR tyrosine kinase inhibitor resistance that occurs via diverse mechanisms....

  10. A portable low-cost 3D point cloud acquiring method based on structure light

    Science.gov (United States)

    Gui, Li; Zheng, Shunyi; Huang, Xia; Zhao, Like; Ma, Hao; Ge, Chao; Tang, Qiuxia

    2018-03-01

    A fast and low-cost method of acquiring 3D point cloud data is proposed in this paper, which can solve the problems of lack of texture information and low efficiency of acquiring point cloud data with only one pair of cheap cameras and projector. Firstly, we put forward a scene adaptive design method of random encoding pattern, that is, a coding pattern is projected onto the target surface in order to form texture information, which is favorable for image matching. Subsequently, we design an efficient dense matching algorithm that fits the projected texture. After the optimization of global algorithm and multi-kernel parallel development with the fusion of hardware and software, a fast acquisition system of point-cloud data is accomplished. Through the evaluation of point cloud accuracy, the results show that point cloud acquired by the method proposed in this paper has higher precision. What`s more, the scanning speed meets the demand of dynamic occasion and has better practical application value.

  11. Disease burden of intensive care unit-acquired pneumonia in China: a systematic review and meta-analysis.

    Science.gov (United States)

    Zhang, Yaowen; Yao, Zhiyuan; Zhan, Siyan; Yang, Zhirong; Wei, Dong; Zhang, Jing; Li, Jingyi; Kyaw, Moe H

    2014-12-01

    Intensive care unit (ICU)-acquired pneumonia and ventilator-associated pneumonia (VAP) are associated with poor clinical and economic outcomes. Data regarding ICU-acquired pneumonia and VAP are not readily available from developing countries, including China. The objective of this meta-analysis was to evaluate the incidence, mortality rate, length of stay, and pathogens associated with ICU-acquired pneumonia in China. A meta-analysis and systematic review of 334 publications published between January 2007 and May 2012 and retrieved from the Chinese BioMedical database, China National Knowledge Infrastructure, VIP Chinese Science and Technique Journals database, Wanfang database, and PubMed was conducted. The incidences of ICU-acquired pneumonia and VAP were 16.2% (95% confidence interval (CI) 12.8-20.4%) and 33.7% (95% CI 31.4-36.1%), respectively; mortality rates were 37.4% (95% CI 24.6-52.2%) and 34.5% (95% CI 29.2-40.1%), respectively. The durations of stay in the ICU and hospital were 12.4 (95% CI 9.6-15.3) and 17.7 (95% CI 15.6-19.7) days and 18.0 (95% CI 16.5-19.6) and 30.5 (95% CI 26.4-34.7) days for ICU-acquired pneumonia and VAP, respectively. Pseudomonas aeruginosa (19.9%) and Acinetobacter baumannii (13.9%) were the most frequently isolated pathogens, followed by Klebsiella pneumoniae (11.9%) and Staphylococcus aureus (10.4%); 82.9% of S. aureus isolates were reported to be methicillin-resistant. ICU-acquired pneumonia/VAP remains a major cause of morbidity and mortality in patients in the ICU in China. Data on organisms causing disease in this population could help guide appropriate prevention strategies and treatment. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  12. Return of the mitochondrial DNA : Case study of mitochondrial genome evolution in the genus Fusarium

    NARCIS (Netherlands)

    Brankovics, Balázs

    2018-01-01

    Mitochondrial DNA played a prominent role in the fields of population genetics, systematics and evolutionary biology, due to its favorable characteristics, such as, uniparental inheritance, fast evolution and easy accessibility. However, the mitochondrial sequences have been mostly neglected in

  13. 16 CFR 801.10 - Value of voting securities, non-corporate interests and assets to be acquired.

    Science.gov (United States)

    2010-01-01

    ... value shall be the fair market value. (b) Assets. The value of assets to be acquired shall be the fair market value of the assets, or, if determined and greater than the fair market value, the acquisition... value of all consideration for such voting securities or assets to be acquired. (3) Fair market value...

  14. 76 FR 54770 - Public Meeting: Notification by Capital One Financial Corporation, McLean, VA, To Acquire ING...

    Science.gov (United States)

    2011-09-02

    ... FEDERAL RESERVE SYSTEM Public Meeting: Notification by Capital One Financial Corporation, McLean, VA, To Acquire ING Bank, FSB, Wilmington, DE, and Indirectly To Acquire Shares of Sharebuilder... Reserve System. ACTION: Notice of public meeting. SUMMARY: Three public meetings will be held regarding...

  15. Acquired ventricular septal defect: A rare sequel of blunt chest ...

    African Journals Online (AJOL)

    Ventricular septal defect (VSD) is the most common congenital cardiac lesion encountered worldwide. Only very rarely is it acquired, and causation through blunt injury in a child is extremely rare. A previously healthy 7‑year‑old boy suffered blunt chest trauma while at play. He presented 11 days later with features of acute ...

  16. Acquired activated protein C resistance is associated with lupus anticoagulants and thrombotic events in pediatric patients with systemic lupus erythematosus.

    Science.gov (United States)

    Male, C; Mitchell, L; Julian, J; Vegh, P; Joshua, P; Adams, M; David, M; Andrew, M E

    2001-02-15

    Acquired activated protein C resistance (APCR) has been hypothesized as a possible mechanism by which antiphospholipid antibodies (APLAs) cause thrombotic events (TEs). However, available evidence for an association of acquired APCR with APLAs is limited. More importantly, an association of acquired APCR with TEs has not been demonstrated. The objective of the study was to determine, in pediatric patients with systemic lupus erythematosus (SLE), whether (1) acquired APCR is associated with the presence of APLAs, (2) APCR is associated with TEs, and (3) there is an interaction between APCR and APLAs in association with TEs. A cross-sectional cohort study of 59 consecutive, nonselected children with SLE was conducted. Primary clinical outcomes were symptomatic TEs, confirmed by objective radiographic tests. Laboratory testing included lupus anticoagulants (LAs), anticardiolipin antibodies (ACLAs), APC ratio, protein S, protein C, and factor V Leiden. The results revealed that TEs occurred in 10 (17%) of 59 patients. Acquired APCR was present in 18 (31%) of 58 patients. Acquired APCR was significantly associated with the presence of LAs but not ACLAs. Acquired APCR was also significantly associated with TEs. There was significant interaction between APCR and LAs in the association with TEs. Presence of both APCR and LAs was associated with the highest risk of a TE. Protein S and protein C concentrations were not associated with the presence of APLAs, APCR, or TEs. Presence of acquired APCR is a marker identifying LA-positive patients at high risk of TEs. Acquired APCR may reflect interference of LAs with the protein C pathway that may represent a mechanism of LA-associated TEs. (Blood. 2001;97:844-849)

  17. The changing face of community-acquired methicillin-resistant Staphylococcus aureus

    Directory of Open Access Journals (Sweden)

    P Kale

    2016-01-01

    Full Text Available Methicillin-resistant Staphylococcus aureus (MRSA is an important cause of infection, both in hospitalised patients with significant healthcare exposure and in patients without healthcare risk factors. Community-acquired methicillin-resistant S. aureus (CA-MRSA are known for their rapid community transmission and propensity to cause aggressive skin and soft tissue infections and community-acquired pneumonia. The distinction between the healthcare-associated (HA-MRSA and CA-MRSA is gradually fading owing to the acquisition of multiple virulence factors and genetic elements. The movement of CA-MRSA strains into the nosocomial setting limits the utility of using clinical risk factors alone to designate community or HA status. Identification of unique genetic characteristics and genotyping are valuable tools for MRSA epidemiological studies. Although the optimum pharmacotherapy for CA-MRSA infections has not been determined, many CA-MRSA strains remain broadly susceptible to several non-β-lactam antibacterial agents. This review aimed at illuminating the characteristic features of CA-MRSA, virulence factors, changing clinical settings and molecular epidemiology, insurgence into the hospital settings and therapy with drug resistance.

  18. The burden and epidemiology of community-acquired central nervous system infections

    DEFF Research Database (Denmark)

    Erdem, H; Inan, A; Guven, E

    2017-01-01

    Risk assessment of central nervous system (CNS) infection patients is of key importance in predicting likely pathogens. However, data are lacking on the epidemiology globally. We performed a multicenter study to understand the burden of community-acquired CNS (CA-CNS) infections between 2012...

  19. Mentoring programme for adolescent survivors of acquired brain injury.

    Science.gov (United States)

    Fraas, Michael; Bellerose, Amanda

    2010-01-01

    To report the findings of a mentor-adolescent relationship between two survivors of acquired brain injury (ABI). Case study report. The adolescent, a survivor of Eastern Equine Encephalitis, was paired with an adult mentor, a survivor of a TBI. Baseline scores on the Youth Quality of Life (YQOL), Wisconsin Quality of Life Index (WQLI) and the Mayo-Portland Adaptability Index-4 (MPAI-4) were recorded. The mentor provided support to the adolescent during the 10-week relationship conducted as a community-based programme for adults with acquired brain injury. In addition, both participants attended group activities that address the long-term needs of survivors of ABI. Post-programme scores were recorded on the YQOL, WQLI, MPAI-4 and a retrospective questionnaire. The adolescent demonstrated improved quality of life on the YQOL and improved ability, adjustment and participation on the MPAI-4. The mentor demonstrated improved quality of life on the WQLI and improved adjustment and participation on the MPAI-4. Both participants indicated satisfaction with the programme on the retrospective questionnaire. The mentor programme provided enhanced quality of life and psycho-social support to both participants. The authors do caution, however, that these findings are preliminary and examination of the efficacy of such programming is ongoing.

  20. Clinical, Radiological, Microbiological, and Histopathological Aspects of Acquired Dacryocystoceles

    Directory of Open Access Journals (Sweden)

    Selam Yekta Sendul

    2014-01-01

    Full Text Available Purpose. The aim of this study is to investigate the etiology and the clinical, microbiological, histopathological, and radiological findings of acquired dacryocystoceles. Methods. In this retrospective study, we reviewed the clinical records of 10 eyes of 8 patients with dacryocystoceles who underwent external dacryocystorhinostomy (DCR surgery. Etiology, presenting symptoms and radiological findings as well as microbiological and histopathological assessment results and outcome were analyzed. Results. The records of 8 patients with dacryocystoceles were included in this study. In the histopathological evaluations of the samples collected from the lacrimal sac wall, chronic inflammation was found in all biopsied samples and fibrosis was observed in two histopathological evaluations. Computerized tomography (CT imaging showed fluid collection separated from adjacent tissues by a thin rim, corresponding to dacryocystoceles in the sac. In the microbiological culture examination of samples collected from the fluid within the cyst, no bacterial growth in 5 eyes, gram-negative bacillus growth in 3 eyes, and gram-positive cocci growth in 2 eyes were found. Conclusions. Acquired dacryocystoceles were observed extremely rarely and a definite pathogenic agent could not be identified in any of the cases, either microbiologically or histologically, whereas chronic inflammation was detected in all cases in our study.