Sample records for kabuki syndrome ks

  1. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.

    PubMed

    Lintas, C; Persico, A M

    2017-01-31

    Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS, accounting for 56%-75% and 3%-8% of cases, respectively. Patients without mutations in 1 of the 2 causative KS genes are often referred to as affected by Kabuki-like syndrome. Overall, they represent approximately 30% of KS cases, pointing toward substantial genetic heterogeneity for this condition. Here, we review all currently available literature describing KS-like phenotypes (or phenocopies) associated with genetic variants located in loci different from KMT2D and KDM6A . We also report on a new KS phenocopy harboring a 5 Mb de novo deletion in chr10p11.22-11.21. An enrichment analysis aimed at identifying functional Gene Ontology classes shared by the 2 known KS causative genes and by new candidate genes currently associated with KS-like phenotypes primarily converges upon abnormal chromatin remodeling and transcriptional dysregulation as pivotal to the pathophysiology of KS phenotypic hallmarks. The identification of mutations in genes belonging to the same functional pathways of KMT2D and KDM6A can help design molecular screenings targeted to KS-like phenotypes. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Body proportions in children with Kabuki syndrome.

    PubMed

    Penders, Bas; Schott, Nina; Gerver, Willem-Jan M; Stumpel, Constance T R M

    2016-03-01

    Facial characteristics, short stature, and skeletal anomalies have been described for the clinical diagnosis of Kabuki Syndrome (KS) in children. However, no studies have investigated body proportions in KS. Knowledge of body proportions in KS may contribute to better insight into the growth pattern and characterization of this genetic disorder. Therefore we compared body proportions of children with KS to normally proportioned controls to investigate if atypical body proportions are part of this genetic disorder. This study was designed and conducted within the setting of the Maastricht University Medical Centre (MUMC+), the official Dutch expert center for Kabuki syndrome. We conducted a cross-sectional study in 32 children (11 children with KS and 21 controls). Body proportions were determined by means of photogrammetric anthropometry, measurements based on digital photography. Body proportions, quantified as body ratios, differ significantly in children with KS from normally proportioned children. Children with KS have larger heads and longer arms proportional to their trunks and have been found to have longer upper arms proportional to their tibia length and feet. Based on deviations in body proportions it was shown possible to discern children with KS from normally proportioned controls. © 2015 Wiley Periodicals, Inc.

  3. Kabuki syndrome: diagnostic and treatment considerations

    PubMed Central

    2012-01-01

    Kabuki syndrome (KS) is a rare genetic disorder first diagnosed in 1981. Unknown by most primary care physicians and clinicians in the mental health fields, children with KS present with unique facial characteristics, mental retardation, health problems and socio-emotional delays that are often mistaken for other diagnostic problems. Literature detailing the psychological and psychosocial features of this disorder is scant, and psychotherapeutic approaches have not been described. In this article, we present a case description and treatment of a child with KS and her family. A brief review of KS is then provided, highlighting its signs and symptoms. Factors related to differential diagnoses are identified to aid primary care and mental health clinicians in better understanding this unique syndrome. Interventions with similar populations are discussed from which a psychological approach to KS is suggested. Finally, implications for primary care physicians are described and suggestions for further research indicated. PMID:23997823

  4. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

    PubMed

    Bögershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Hülya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin Özlem; Barat-Houari, Mouna; Elcioglu, Nursel H; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M; Fabre, Aurélie; Baynam, Gareth; Sanchez, Elodie; Nürnberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valérie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nürnberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Geneviève, David; Yigit, Gökhan; Wollnik, Bernd

    2016-09-01

    Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients. © 2016 WILEY PERIODICALS, INC.

  5. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    PubMed

    Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E M H F; Del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C l; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J H M; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B B A; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A

    2013-12-01

    Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

    PubMed

    Teranishi, Hideto; Koga, Yuhki; Nakashima, Kentaro; Morihana, Eiji; Ishii, Kanako; Sakai, Yasunari; Taguchi, Tomoaki; Oda, Yoshinao; Miyake, Noriko; Matsumoto, Naomichi; Ohga, Shouichi

    2018-02-27

    A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition has been suggested for KS due to oncogenic mutations in KMT2D or KDM6A. The first case of nephroblastoma exemplified the treatability of malignancies in KS patients, as shown in the 9 cases reviewed. Active screening and intervention are recommended for the cure of malignancy in KS children.

  7. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

    PubMed

    McVeigh, Terri P; Banka, Siddharth; Reardon, William

    2015-10-01

    Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

  8. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

    PubMed Central

    Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola; Lapi, Elisabetta; Neri, Marcella; Ferlini, Alessandra; Cavaliere, Maria Luigia; Chiurazzi, Pietro; Monica, Matteo Della; Scarano, Gioacchino; Faravelli, Francesca; Ferrari, Paola; Mazzanti, Laura; Pilotta, Alba; Patricelli, Maria Grazia; Bedeschi, Maria Francesca; Benedicenti, Francesco; Prontera, Paolo; Toschi, Benedetta; Salviati, Leonardo; Melis, Daniela; Di Battista, Eliana; Vancini, Alessandra; Garavelli, Livia; Zelante, Leopoldo; Merla, Giuseppe

    2014-01-01

    Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. In this study, we performed a mutational screening on 303 Kabuki patients by direct sequencing, MLPA, and quantitative PCR identifying 133 KMT2D, 62 never described before, and four KDM6A mutations, three of them are novel. We found that a number of KMT2D truncating mutations result in mRNA degradation through the nonsense-mediated mRNA decay, contributing to protein haploinsufficiency. Furthermore, we demonstrated that the reduction of KMT2D protein level in patients’ lymphoblastoid and skin fibroblast cell lines carrying KMT2D-truncating mutations affects the expression levels of known KMT2D target genes. Finally, we hypothesized that the KS patients may benefit from a readthrough therapy to restore physiological levels of KMT2D and KDM6A proteins. To assess this, we performed a proof-of-principle study on 14 KMT2D and two KDM6A nonsense mutations using specific compounds that mediate translational readthrough and thereby stimulate the re-expression of full-length functional proteins. Our experimental data showed that both KMT2D and KDM6A nonsense mutations displayed high levels of readthrough in response to gentamicin treatment, paving the way to further studies aimed at eventually treating some Kabuki patients with readthrough inducers. PMID:24633898

  9. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Li, M.; Zackai, E.H.; Kaplan, P.

    1996-10-16

    Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2more » patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (1132) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. 16 refs.« less

  10. Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

    PubMed

    Gohda, Yuji; Oka, Shohki; Matsunaga, Takamoto; Watanabe, Satoshi; Yoshiura, Koh-ichiro; Kondoh, Tatsuro; Matsumoto, Tadashi

    2015-08-01

    A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia. © 2015 Japan Pediatric Society.

  11. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

    PubMed

    Hannibal, Mark C; Buckingham, Kati J; Ng, Sarah B; Ming, Jeffrey E; Beck, Anita E; McMillin, Margaret J; Gildersleeve, Heidi I; Bigham, Abigail W; Tabor, Holly K; Mefford, Heather C; Cook, Joseph; Yoshiura, Koh-ichiro; Matsumoto, Tadashi; Matsumoto, Naomichi; Miyake, Noriko; Tonoki, Hidefumi; Naritomi, Kenji; Kaname, Tadashi; Nagai, Toshiro; Ohashi, Hirofumi; Kurosawa, Kenji; Hou, Jia-Woei; Ohta, Tohru; Liang, Deshung; Sudo, Akira; Morris, Colleen A; Banka, Siddharth; Black, Graeme C; Clayton-Smith, Jill; Nickerson, Deborah A; Zackai, Elaine H; Shaikh, Tamim H; Donnai, Dian; Niikawa, Norio; Shendure, Jay; Bamshad, Michael J

    2011-07-01

    Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states. Here, we report on the screening of 110 families with Kabuki syndrome. MLL2 mutations were found in 81/110 (74%) of families. In simplex cases for which DNA was available from both parents, 25 mutations were confirmed to be de novo, while a transmitted MLL2 mutation was found in two of three familial cases. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations that are predicted to result in haploinsufficiency. The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalies were more common in MLL2 mutation-positive cases. These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome. Copyright © 2011 Wiley-Liss, Inc.

  12. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

    PubMed

    Liu, Shuang; Hong, Xiafei; Shen, Cheng; Shi, Quan; Wang, Jian; Xiong, Feng; Qiu, Zhengqing

    2015-04-21

    Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. We retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D. The patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations. This is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.

  13. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

    PubMed

    Yap, Kai Lee; Johnson, Amy E Knight; Fischer, David; Kandikatla, Priscilla; Deml, Jacea; Nelakuditi, Viswateja; Halbach, Sara; Jeha, George S; Burrage, Lindsay C; Bodamer, Olaf; Benavides, Valeria C; Lewis, Andrea M; Ellard, Sian; Shah, Pratik; Cody, Declan; Diaz, Alejandro; Devarajan, Aishwarya; Truong, Lisa; Greeley, Siri Atma W; De Leó-Crutchlow, Diva D; Edmondson, Andrew C; Das, Soma; Thornton, Paul; Waggoner, Darrel; Del Gaudio, Daniela

    2018-06-15

    Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. We documented the clinical features and molecular diagnoses of 10 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes. Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 5). Among the 100 infants with HI of unknown genetic etiology, a KS diagnosis was uncovered in one patient. The incidence of HI among patients with KS may be higher than previously reported, and KS may account for as much as 1% of patients diagnosed with HI. As the recognition of dysmorphic features associated with KS is challenging in the neonatal period, we propose KS should be considered in the differential diagnosis of HI. Since HI in patients with KS is well managed medically, a timely recognition of hyperinsulinemic episodes will improve outcomes, and prevent aggravation of the preexisting mild to moderate intellectual disability in KS.

  14. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

    PubMed

    Cuscó, Ivon; del Campo, Miguel; Vilardell, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez-Jurado, Luis A

    2008-04-11

    Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.

  15. Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

    PubMed

    Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Wang, Wayseen

    2008-06-01

    To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Descriptive case study. Tertiary medical center. A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. None. Cytogenetic analysis. The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.

  16. Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

    PubMed Central

    Bjornsson, Hans T.; Benjamin, Joel S.; Zhang, Li; Weissman, Jacqueline; Gerber, Elizabeth E.; Chen, Yi-Chun; Vaurio, Rebecca G.; Potter, Michelle C.; Hansen, Kasper D.; Dietz, Harry C.

    2015-01-01

    Kabuki syndrome is caused by haploinsufficiency for either of two genes that promote the opening of chromatin. If an imbalance between open and closed chromatin is central to the pathogenesis of Kabuki syndrome, agents that promote chromatin opening might have therapeutic potential. We have characterized a mouse model of Kabuki syndrome with a heterozygous deletion in the gene encoding the lysine-specific methyltransferase 2D (Kmt2d), leading to impairment of methyltransferase function. In vitro reporter alleles demonstrated a reduction in histone 4 acetylation and histone 3 lysine 4 trimethylation (H3K4me3) activity in mouse embryonic fibroblasts from Kmt2d+/βGeo mice. These activities were normalized in response to AR-42, a histone deacetylase inhibitor. In vivo, deficiency of H3K4me3 in the dentate gyrus granule cell layer of Kmt2d+/βGeo mice correlated with reduced neurogenesis and hippocampal memory defects. These abnormalities improved upon postnatal treatment with AR-42. Our work suggests that a reversible deficiency in postnatal neurogenesis underlies intellectual disability in Kabuki syndrome. PMID:25273096

  17. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

    PubMed Central

    Cuscó, Ivon; del Campo, Miguel; Vilardell, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez-Jurado, Luis A

    2008-01-01

    Background Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered. PMID:18405349

  18. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

    PubMed

    Banka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J; Crow, Yanick J; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P M; Donnelly, Deirdre E; Berland, Siren; Houge, Gunnar; Morton, Jenny E; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J; Fry, Andrew E; Lynch, Sally Ann; Gill, Harinder; Schweiger, Susann; Lam, Wayne W K; Tolmie, John; Mohammed, Shehla N; Hobson, Emma; Smith, Audrey; Blyth, Moira; Bennett, Christopher; Vasudevan, Pradeep C; García-Miñaúr, Sixto; Henderson, Alex; Goodship, Judith; Wright, Michael J; Fisher, Richard; Gibbons, Richard; Price, Susan M; C de Silva, Deepthi; Temple, I Karen; Collins, Amanda L; Lachlan, Katherine; Elmslie, Frances; McEntagart, Meriel; Castle, Bruce; Clayton-Smith, Jill; Black, Graeme C; Donnai, Dian

    2012-04-01

    MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting possible genetic heterogeneity. Here, we present the largest yet reported cohort of 116 patients with KS. We identified MLL2 variants in 74 patients, of which 47 are novel and a majority are truncating. We show that pathogenic missense mutations were commonly located in exon 48. We undertook a systematic facial KS morphology study of patients with KS at our regional dysmorphology meeting. Our data suggest that nearly all patients with typical KS facial features have pathogenic MLL2 mutations, although KS can be phenotypically variable. Furthermore, we show that MLL2 mutation-positive KS patients are more likely to have feeding problems, kidney anomalies, early breast bud development, joint dislocations and palatal malformations in comparison with MLL2 mutation-negative patients. Our work expands the mutation spectrum of MLL2 that may help in better understanding of this molecule, which is important in gene expression, epigenetic control of active chromatin states, embryonic development and cancer. Our analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested. Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients.

  19. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

    PubMed

    Moon, Jung-Eun; Lee, Su-Jeong; Ko, Cheol Woo

    2018-06-18

    Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone deficiency, diabetes insipidus, thyroid dysfunction and obesity have been reported. Kabuki syndrome is caused by a heterozygous mutation in the KMT2D or KDM6A genes. An 11-year-old girl with the typical facial features of Kabuki syndrome visited our hospital due to her short stature. She was found to have the de novo heterozygous mutation of c.8200C > T, p(Arg2734*) in exon 32 of the KMT2D gene and was diagnosed with Kabuki syndrome. The patient also exhibited endocrine abnormalities such as a constitutional delay of puberty, transiently congenial hypothyroidism, obesity and growth hormone deficiency. This is a case of a mutation in the KMT2D gene in a girl with Kabuki syndrome who presented with endocrine symptoms (constitutional delay of puberty, hypothyroidism, obesity and growth hormone deficiency).

  20. Kabuki syndrome: a challenge for the primary care provider.

    PubMed

    Crane, Bonnie; Alpert, Patricia T; Cyrkiel, Dianne; Jauregui, Alan

    2013-10-01

    Using a case format, the pathogenesis, clinical manifestations, diagnosis, and management of Kabuki syndrome, a rare genetic condition, is presented. Nurse practitioners (NPs) may encounter patients presenting to the primary care setting with this rare syndrome; understanding this condition may help them to better care for these patients. A case presentation of a pediatric patient supported by the currently available literature from multiple health and medial databases. Kabuki syndrome is a rare phenomenon that occurs in 1 in every 32,000 births. A diagnosis of this syndrome may take several months to years because there are no specific tests, and the physical features may be subtle at birth, becoming more pronounced over a period of time during childhood. The degree of disease severity varies widely. Understanding this syndrome increases the NP's ability to provide primary care to affected patients and their families. Management of this condition requires the NP take on the role of gatekeeper, so timely coordination of specialty or subspecialty services is provided. Special consideration should be given to monitoring caregiver fatigue and impact on siblings so family members can be directed to the appropriate support services. ©2013 The Author(s) ©2013 American Association of Nurse Practitioners.

  1. A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.

    PubMed

    Benjamin, Joel S; Pilarowski, Genay O; Carosso, Giovanni A; Zhang, Li; Huso, David L; Goff, Loyal A; Vernon, Hilary J; Hansen, Kasper D; Bjornsson, Hans T

    2017-01-03

    Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in either of two genes (KMT2D and KDM6A) involved in chromatin accessibility. We previously showed that an agent that promotes chromatin opening, the histone deacetylase inhibitor (HDACi) AR-42, ameliorates the deficiency of adult neurogenesis in the granule cell layer of the dentate gyrus and rescues hippocampal memory defects in a mouse model of Kabuki syndrome (Kmt2d +/βGeo ). Unlike a drug, a dietary intervention could be quickly transitioned to the clinic. Therefore, we have explored whether treatment with a ketogenic diet could lead to a similar rescue through increased amounts of beta-hydroxybutyrate, an endogenous HDACi. Here, we report that a ketogenic diet in Kmt2d +/βGeo mice modulates H3ac and H3K4me3 in the granule cell layer, with concomitant rescue of both the neurogenesis defect and hippocampal memory abnormalities seen in Kmt2d +/βGeo mice; similar effects on neurogenesis were observed on exogenous administration of beta-hydroxybutyrate. These data suggest that dietary modulation of epigenetic modifications through elevation of beta-hydroxybutyrate may provide a feasible strategy to treat the intellectual disability seen in Kabuki syndrome and related disorders.

  2. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

    PubMed

    Lange, L; Pagnamenta, A T; Lise, S; Clasper, S; Stewart, H; Akha, E S; Quaghebeur, G; Knight, S J L; Keays, D A; Taylor, J C; Kini, U

    2016-09-01

    Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was identified in March 2012, its clinical relevance could only be confirmed following the August 2015 publication of two cases with HNRNPK mutations and an overlapping phenotype that included intellectual disability, distinctive facial dysmorphism and skeletal/connective tissue abnormalities. Whilst we had attempted (unsuccessfully) to identify additional cases through existing collaborators, the two published cases were 'matched' using GeneMatcher, a web-based tool for connecting researchers and clinicians working on identical genes. Our report therefore exemplifies the importance of such online tools in clinical genetics research and the benefits of periodically reviewing cases with variants of unproven significance. Our study also suggests that loss of function variants in HNRNPK should be considered as a molecular basis for patients with Kabuki-like syndrome. © 2016 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

    PubMed Central

    Porntaveetus, Thantrira; Abid, Mushriq F; Theerapanon, Thanakorn; Srichomthong, Chalurmpon; Ohazama, Atsushi; Kawasaki, Katsushige; Kawasaki, Maiko; Suphapeetiporn, Kanya; Sharpe, Paul T.; Shotelersuk, Vorasuk

    2018-01-01

    Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, intellectual disability, and multiple developmental abnormalities. Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of KMT2D (histone-lysine N-methyltransferase 2D) or KDM6A (lysine-specific demethylase 6A) genes in tooth development have not been well defined. Here, we report seven unrelated Thai patients with Kabuki syndrome having congenital absence of teeth, malocclusion, high-arched palate, micrognathia, and deviated tooth shape and size. Exome sequencing successfully identified that six patients were heterozygous for mutations in KMT2D, and one in KDM6A. Six were novel mutations, of which five were in KMT2D and one in KDM6A. They were truncating mutations including four frameshift deletions and two nonsense mutations. The predicted non-functional KMT2D and KDM6A proteins are expected to cause disease by haploinsufficiency. Our study expands oro-dental, medical, and mutational spectra associated with Kabuki syndrome. We also demonstrate for the first time that KMT2D and KDM6A are expressed in the dental epithelium of human tooth germs. PMID:29725259

  4. Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement.

    PubMed

    Dyamenahalli, Umesh; Abraham, Boban; Fontenot, Eudice; Prasad, Vinay; Imamura, Michiaki

    2007-01-01

    We report the aneurysmal dilation of the ascending aorta and the main pulmonary artery in 2 children with Kabuki syndrome. In 1 patient, there was progressive aneurysmal dilation of the ascending aorta necessitating aortoplasty. Histologic examination of the resected aorta revealed disrupted and fragmented elastic fibers in the medial layer, along with mucinous degeneration of the aortic wall. This is the first recognition and report of these findings as part of the Kabuki syndrome.

  5. A small and active ring X chromosome in a female with features of Kabuki syndrome.

    PubMed

    Rodríguez, L; Diego-Alvarez, D; Lorda-Sanchez, I; Gallardo, F L; Martínez-Fernández, M L; Arroyo-Muñoz, M E; Martínez-Frías, M L

    2008-11-01

    A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X-inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. Copyright 2008 Wiley-Liss, Inc.

  6. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Galan-Gomez, E.; Cardesa-Garcia, J.J. Campo-Sampedro, F.M.

    1995-11-20

    We describe 5 Spanish children with Kabuki make-up syndrome (KMS) - 3 females and 2 males - identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation.more » The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized. 30 refs., 6 figs., 2 tabs.« less

  7. Shakespeare: Kabuki-Style.

    ERIC Educational Resources Information Center

    Turse, Paul Leonard, Jr.

    This study examines the theatrical and thematic aspects of Kabuki and provides recommendations for using these aspects in the production of plays by Shakespeare. Sequences from "Hamlet,""Macbeth," and "Julius Caesar" were chosen because they are adaptable to Kabuki design. In order to help a director view these plays…

  8. The pulmonary histopathology of anti-KS transfer RNA synthetase syndrome.

    PubMed

    Schneider, Frank; Aggarwal, Rohit; Bi, David; Gibson, Kevin; Oddis, Chester; Yousem, Samuel A

    2015-01-01

    The clinical spectrum of the antisynthetase syndromes (AS) has been poorly defined, although some frequently present with pulmonary manifestations. The anti-KS anti-asparaginyl-transfer RNA synthetase syndrome is one in which pulmonary interstitial lung disease is almost always present and yet the histopathologic spectrum is not well described. To define the morphologic manifestations of pulmonary disease in those patients with anti-KS antiasparaginyl syndrome. We reviewed the connective tissue disorder registry of the University of Pittsburgh and identified those patients with anti-KS autoantibodies who presented with interstitial lung disease and had surgical lung biopsies. The 5 patients with anti-KS antisynthetase syndrome were usually women presenting with dyspnea and without myositis, but with mechanic's hands (60%) and Raynaud phenomenon (40%). They most often presented with a usual interstitial pneumonia pattern of fibrosis (80%), with the final patient displaying organizing pneumonia. Pulmonary interstitial lung disease is a common presentation in patients with the anti-KS-antisynthetase syndrome, who are often women with rather subtle or subclinical connective tissue disease, whereas the literature emphasizes the nonspecific interstitial pneumonia pattern often diagnosed clinically. Usual interstitial pneumonia and organizing pneumonia patterns of interstitial injury need to be added to this clinical differential diagnosis.

  9. The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.

    PubMed

    Al Mosawi, A J; Fewin, L

    2009-10-01

    Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots.

  10. [Social cognition disorders in Klinefelter syndrome: A specific phenotype? (KS)].

    PubMed

    Babinet, M-N; Rigard, C; Peyroux, É; Dragomir, A-R; Plotton, I; Lejeune, H; Demily, C

    2017-10-01

    The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms. Our study aims to characterize of the various components of social cognition in the SK: facial emotional recognition, theory of mind and attributional style. For this two groups (SK group versus control group) of participants (n=16) matched for age and sociocultural level were recruited. Participants with intellectual disabilities, psychiatric or neurological disorders were excluded. Three social cognition tests were available: the TREF, the MASC, the AIHQ. Neurocognitive functions were assessed by the fNart, the subtest "logical memory" of the MEM-III, the subtests of the two VOSP battery, the d2, the TMT and the Stroop test. The SK group had specific social cognition disorders in comparison to the control group. Two emotions in particular were less well recognized: fear and contempt. In addition, the SK group had significantly lower results in theory of mind. Regarding the hostile attribution bias, no significant difference was found. Finally, the results showed correlations between specific attentional disorders and facial emotional recognition. Our study emphasizes social cognition disorders in SK. These disorders could be considered as a phenotypic trait in the syndrome. The interest of better characterizing the cognitive phenotype of genetic disorders that can affect the neurodevelopment is to offer specific cognitive remediation strategies. Copyright © 2016. Published by Elsevier Masson SAS.

  11. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

    PubMed

    Takagi, Masaki; Ishii, Tomohiro; Torii, Chiharu; Kosaki, Kenjiro; Hasegawa, Tomonobu

    2014-12-01

    Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. We report a Japanese male patient with molecularly confirmed Kabuki syndrome who was found to have CPHD. We analyzed all coding exons and flanking introns of currently known nine genes responsible for CPHD by PCR-based sequencing. In this CPHD patient, we identified a novel hemizygous 21-base pair deletion, resulting in the loss of 7 alanine residues from polyalanine (PA) tracts of SOX3. The clinically and endocrinologically normal mother of the patient carried the same deletion in a heterozygous manner. In vitro experiments showed that the del 7A SOX3 had increased transactivation of the HESX1 promoter. Our study provides additional evidence that deletion in PA tracts of SOX3 is associated with hypopituitarism. Female carriers of SOX3 PA tract deletions will show a broad phenotypic spectrum, ranging from clinically normal to CPHD.

  12. All flash, No light: the kabuki dance opposing a national renewable portfolio standard

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Cooper, Christopher; Sovacool, Benjamin K.

    2008-11-15

    We don't know what is driving Professor Michaels, but his case against a national RPS is little more than a Kabuki dance of factual distortions and flawed analysis. His persistence cannot substitute for facts, more and more of which, as we have shown, build a strong case for adopting a national RPS and establishing a national market for renewable energy. (author)

  13. Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome

    PubMed Central

    Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

    2011-01-01

    The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

  14. Neurobehavioral and Psychosocial Issues in Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Geschwind, Daniel H.; Dykens, Elisabeth

    2004-01-01

    Klinefelter Syndrome (KS) is a relatively common (1/500 to 1/1,000) genetic syndrome caused by an extra X chromosome in males, leading to an XXY karyotype. In most cases, the physical and neurobehavioral characteristics of KS are relatively mild, and KS is not usually associated with moderate or severe mental retardation. However, KS is often…

  15. Measurements of time-dependent CP violation in B0→ωKS0, f0(980)KS0, KS0π0 and K+K-KS0 decays

    NASA Astrophysics Data System (ADS)

    Chao, Y.; Chen, K.-F.; Miyake, H.; Tajima, O.; Trabelsi, K.; Abe, K.; Abe, K.; Adachi, I.; Aihara, H.; Anipko, D.; Bakich, A. M.; Barberio, E.; Bitenc, U.; Bizjak, I.; Blyth, S.; Bondar, A.; Bračko, M.; Browder, T. E.; Chang, M.-C.; Chang, P.; Chen, A.; Chen, W. T.; Cheon, B. G.; Chistov, R.; Choi, Y.; Choi, Y. K.; Cole, S.; Dalseno, J.; Danilov, M.; Dash, M.; Dragic, J.; Drutskoy, A.; Eidelman, S.; Fratina, S.; Gabyshev, N.; Golob, B.; Ha, H.; Haba, J.; Hara, K.; Hara, T.; Hastings, N. C.; Hayashii, H.; Hazumi, M.; Heffernan, D.; Higuchi, T.; Hokuue, T.; Hoshi, Y.; Hou, W.-S.; Hsiung, Y. B.; Iijima, T.; Ikado, K.; Inami, K.; Ishikawa, A.; Ishino, H.; Itoh, R.; Iwasaki, M.; Iwasaki, Y.; Kaji, H.; Kang, J. H.; Kapusta, P.; Kawai, H.; Kawasaki, T.; Kim, H. J.; Kim, H. O.; Kim, Y. J.; Kinoshita, K.; Korpar, S.; Križan, P.; Krokovny, P.; Kulasiri, R.; Kumar, R.; Kuo, C. C.; Kuzmin, A.; Kwon, Y.-J.; Lee, M. J.; Lesiak, T.; Limosani, A.; Lin, S.-W.; Liventsev, D.; Matsumoto, T.; McOnie, S.; Miyabayashi, K.; Miyata, H.; Miyazaki, Y.; Mizuk, R.; Mohapatra, D.; Moloney, G. R.; Nakahama, Y.; Nakano, E.; Nakao, M.; Natkaniec, Z.; Nishida, S.; Nitoh, O.; Ogawa, S.; Okuno, S.; Olsen, S. L.; Onuki, Y.; Ozaki, H.; Pakhlov, P.; Pakhlova, G.; Park, C. W.; Pestotnik, R.; Piilonen, L. E.; Sakai, Y.; Satoyama, N.; Schietinger, T.; Schneider, O.; Schwartz, A. J.; Seidl, R.; Senyo, K.; Sevior, M. E.; Shapkin, M.; Shibuya, H.; Singh, J. B.; Somov, A.; Soni, N.; Stanič, S.; Starič, M.; Stoeck, H.; Sumisawa, K.; Sumiyoshi, T.; Suzuki, S.; Takasaki, F.; Tamai, K.; Tanaka, M.; Taylor, G. N.; Teramoto, Y.; Tian, X. C.; Tikhomirov, I.; Tsukamoto, T.; Uehara, S.; Ueno, K.; Unno, Y.; Uno, S.; Ushiroda, Y.; Usov, Y.; Varner, G.; Varvell, K. E.; Villa, S.; Vinokurova, A.; Wang, C. H.; Watanabe, Y.; Won, E.; Yabsley, B. D.; Yamaguchi, A.; Yamashita, Y.; Yamauchi, M.; Yusa, Y.; Zhilich, V.; Zhulanov, V.; Zupanc, A.

    2007-11-01

    We present measurements of time-dependent CP asymmetries in B0→ωKS0, f0(980)KS0, KS0π0 and K+K-KS0 decays based on a sample of 535×106 BB¯ pairs collected at the Υ(4S) resonance with the Belle detector at the KEKB energy-asymmetric e+e- collider. One neutral B meson is fully reconstructed in one of the specified decay channels, and the flavor of the accompanying B meson is identified from its decay products. CP-violation parameters for each of the decay modes are obtained from the asymmetries in the distributions of the proper-time intervals between the two B decays.

  16. Drugs that may provoke Kounis syndrome.

    PubMed

    Rodrigues, Maria Catarina Luís; Coelho, Daniela; Granja, Cristina

    2013-01-01

    Kounis Syndrome (KS) is the contemporary occurrence of Acute Coronary Syndromes (ACS) with an allergic or hypersensitivity reaction. This syndrome has been reported in association with a variety of drugs, food, insect stings, environmental exposures and medical conditions. Cases of KS seem to be more often encountered in everyday clinical practice than anticipated. It is believed that the lack of awareness of this association may lead to underreporting. We report a case of KS secondary to diclofenac intake.

  17. Update on the slow delayed rectifier potassium current (I(Ks)): role in modulating cardiac function.

    PubMed

    Liu, Zhenzhen; Du, Lupei; Li, Minyong

    2012-01-01

    The slow delayed rectifier current (I(Ks)) is the slow component of cardiac delayed rectifier current and is critical for the late phase repolarization of cardiac action potential. This current is also an important target for Sympathetic Nervous System (SNS) to regulate the cardiac electivity to accommodate to heart rate alterations in response to exercise or emotional stress and can be up-regulated by β- adrenergic or other signal molecules. I(Ks) channel is originated by the co-assembly of pore-forming KCNQ1 α-subunit and accessory KCNE1 β-subunit. Mutations in any subunit can bring about severe long QT syndrome (LQT-1, LQT-5) as characterized by deliquium, seizures and sudden death. This review summarizes the normal physiological functions and molecular basis of I(Ks) channels, as well as illustrates up-to-date development on its blockers and activators. Therefore, the current extensive survey should generate fundamental understanding of the role of I(Ks) channel in modulating cardiac function and donate some instructions to the progression of I(Ks) blockers and activators as potential antiarrhythmic agents or pharmacological tools to determine the physiological and pathological function of I(Ks).

  18. Combined Alport syndrome and Klinefelter syndrome.

    PubMed

    Nishida, Masashi; Hashimoto, Fusako; Kaito, Hiroshi; Nozu, Kandai; Iijima, Kazumoto; Asada, Dai; Hamaoka, Kenji

    2016-02-01

    To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9-month-old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605-2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history. © 2015 Japan Pediatric Society.

  19. Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives.

    PubMed

    Salzano, Andrea; D'Assante, Roberta; Heaney, Liam M; Monaco, Federica; Rengo, Giuseppe; Valente, Pietro; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M; Napoli, Raffaele

    2018-03-23

    Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter syndrome" AND "insulin resistance" OR "metabolic syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  20. Hypogonadism Makes Dyslipidemia in Klinefelter's Syndrome.

    PubMed

    Lee, Hyo Serk; Park, Chan Woo; Lee, Joong Shik; Seo, Ju Tae

    2017-11-01

    Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening. Patient characteristics were compared between the two groups with respect to height, weight, body mass index (BMI), testosterone, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride (TG) levels. Height and weight were significantly greater in patients belonging to the KS group, but no statistically significant difference was found with respect to the BMI. Testosterone levels in patients belonging to the KS group were significantly lower compared to the control group (2.4 ± 2.6 vs. 5.2 ± 1.8 ng/mL, P < 0.001). Compared to the control group, TG levels in patients belonging to the KS group were increased (134.9 ± 127.8 vs. 187.9 ± 192.1 mg/dL, P = 0.004) and HDL cholesterol was significantly decreased (51.2 ± 22.0 vs. 44.0 ± 9.5 mg/dL, P = 0.009). LDL cholesterol and total cholesterol were not significantly different between the two groups (P = 0.076 and P = 0.256, respectively). Significant differences were noted between patients belonging to the KS group and normal control group with respect to elevated TG and decreased HDL cholesterol levels. © 2017 The Korean Academy of Medical Sciences.

  1. Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.

    PubMed

    Yıldırım, Tuba Talo; Kaya, Filiz Acun; Taşkesen, Mustafa; Dündar, Serkan; Bozoğlan, Alihan; Tekin, Gülücağ Giray; Akdeniz, Sedat

    2017-01-01

    Talo-Yıldırım T, Acun-Kaya F, Taşkesen M, Dündar S, Bozoğlan A, Tekin GG, Akdeniz S. Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. Turk J Pediatr 2017; 59: 56-61. Kindler syndrome (KS) is a rare genetic disorder. The clinical features include aggressive periodontal disease and severe desquamative gingivitis. Five individuals with KS were assessed by oral examination, radiographic analysis and periodontal measurements. All the patients' indexes were recorded prior to periodontal treatment and at the end of the 1th, 3th , 6th, 9th and 12th month respectively. All the patients had improvement of periodontal status and enhancement in index scores. The affected individuals were previously screened for FERMT1 mutations. KS patients' periodontal disease activity could be taken under control with regular follow-up.

  2. The role of hypogonadism in Klinefelter syndrome.

    PubMed

    Høst, Christian; Skakkebæk, Anne; Groth, Kristian A; Bojesen, Anders

    2014-01-01

    Klinefelter syndrome (KS) (47, XXY) is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be diffi cult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition, with more fat and less muscle mass and diminished bone mineral mass, as well as increased risk of metabolic consequences, such as type 2 diabetes and the metabolic syndrome are all common in KS. These findings should be a concern as they are not simply laboratory findings; epidemiological studies in KS populations show an increased risk of both hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome.

  3. The role of hypogonadism in Klinefelter Syndrome

    PubMed Central

    Høst, Christian; Skakkebæk, Anne; Groth, Kristian A; Bojesen, Anders

    2014-01-01

    Klinefelter syndrome (KS) (47, XXY) is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be difficult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition, with more fat and less muscle mass and diminished bone mineral mass, as well as increased risk of metabolic consequences, such as type 2 diabetes and the metabolic syndrome are all common in KS. These findings should be a concern as they are not simply laboratory findings; epidemiological studies in KS populations show an increased risk of both hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome. PMID:24407186

  4. Korsakoff's syndrome: a critical review.

    PubMed

    Arts, Nicolaas Jm; Walvoort, Serge Jw; Kessels, Roy Pc

    2017-01-01

    In this review, we present a survey on Korsakoff's syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of KS and its definition, its epidemiology, and the lack of consensus criteria for its diagnosis. The cognitive and behavioral symptoms of KS, which include anterograde and retrograde amnesia, executive dysfunction, confabulation, apathy, as well as affective and social-cognitive impairments, are discussed. Moreover, recent insights into the underlying neurocognitive mechanisms of these symptoms are presented. In addition, the evidence so far on the etiology of KS is examined, highlighting the role of thiamine and alcohol and discussing the continuity hypothesis. Furthermore, the neuropathology of KS is reviewed, focusing on abnormalities in the diencephalon, including the mammillary bodies and thalamic nuclei. Pharmacological treatment options and nonpharmacological interventions, such as those based on cognitive rehabilitation, are discussed. Our review shows that thiamine deficiency (TD) is a crucial factor in the etiology of KS. Although alcohol abuse is by far the most important context in which TD occurs, there is no convincing evidence for an essential contribution of ethanol neurotoxicity (EN) to the development of WE or to the progression of WE to KS. Future research on the postmortem histopathological analysis of brain tissues of KS patients is crucial for the advancement of our knowledge of KS, especially for associating its symptoms with lesions in various thalamic nuclei. A necessary requirement for the advancement of studies on KS is the broad acceptance of a comprehensive definition and definite diagnostic criteria. Therefore, in this review, we propose such a definition of KS and draft outlines for prospective diagnostic criteria.

  5. The Psychoeducational Profile of Boys with Klinefelter Syndrome.

    ERIC Educational Resources Information Center

    Rovet, Joanne; And Others

    1996-01-01

    This article integrates the literature on intelligence and achievement outcomes in boys with Klinefelter syndrome (KS). It reports results of a study following 36 boys with KS and 33 sibling controls. Boys with KS demonstrated verbal cognitive deficits and significant underachievement in reading, spelling, and arithmetic, which increased with age.…

  6. Anterograde episodic memory in Korsakoff syndrome.

    PubMed

    Fama, Rosemary; Pitel, Anne-Lise; Sullivan, Edith V

    2012-06-01

    A profound anterograde memory deficit for information, regardless of the nature of the material, is the hallmark of Korsakoff syndrome, an amnesic condition resulting from severe thiamine (vitamin B1) deficiency. Since the late nineteenth century when the Russian physician, S. S. Korsakoff, initially described this syndrome associated with "polyneuropathy," the observed global amnesia has been a primary focus of neuroscience and neuropsychology. In this review we highlight the historical studies that examined anterograde episodic memory processes in KS, present a timeline and evidence supporting the myriad theories proffered to account for this memory dysfunction, and summarize what is known about the neuroanatomical correlates and neural systems presumed affected in KS. Rigorous study of KS amnesia and associated memory disorders of other etiologies provide evidence for distinct mnemonic component processes and neural networks imperative for normal declarative and nondeclarative memory abilities and for mnemonic processes spared in KS, from whence emerged the appreciation that memory is not a unitary function. Debate continues regarding the qualitative and quantitative differences between KS and other amnesias and what brain regions and neural pathways are necessary and sufficient to produce KS amnesia.

  7. Anterograde Episodic Memory in Korsakoff Syndrome

    PubMed Central

    Fama, Rosemary; Pitel, Anne-Lise; Sullivan, Edith V.

    2016-01-01

    A profound anterograde memory deficit for information, regardless of the nature of the material, is the hallmark of Korsakoff syndrome, an amnesic condition resulting from severe thiamine (vitamin B1) deficiency. Since the late nineteenth century when the Russian physician, S. S. Korsakoff, initially described this syndrome associated with “polyneuropathy,” the observed global amnesia has been a primary focus of neuroscience and neuropsychology. In this review we highlight the historical studies that examined anterograde episodic memory processes in KS, present a timeline and evidence supporting the myriad theories proffered to account for this memory dysfunction, and summarize what is known about the neuroanatomical correlates and neural systems presumed affected in KS. Rigorous study of KS amnesia and associated memory disorders of other etiologies provide evidence for distinct mnemonic component processes and neural networks imperative for normal declarative and nondeclarative memory abilities and for mnemonic processes spared in KS, from whence emerged the appreciation that memory is not a unitary function. Debate continues regarding the qualitative and quantitative differences between KS and other amnesias and what brain regions and neural pathways are necessary and sufficient to produce KS amnesia. PMID:22644546

  8. Human herpesvirus-8 (HHV-8) sero-detection and HIV association in Kaposi's sarcoma (KS), non-KS tumors and non-neoplastic conditions

    PubMed Central

    Mwakigonja, Amos R; Pyakurel, Pawan; Kokhaei, Parviz; Pak, Fatemeh; Lema, Leonard K; Kaaya, Ephata E; Biberfeld, Peter

    2008-01-01

    Background The association of the human herpesvirus-8/Kaposi's sarcoma (KS)-associated herpesvirus (HHV-8/KSHV) serology with various malignancies in Tanzania is not currently well established while previous studies were based on either PCR or immunofluorescence assays [IFA] but not with a sensitive enzyme-linked immunosorbent assay (ELISA). Selected archival diagnostic biopsies (n = 184) and sera from indigenous patients with KS (n = 120), non-KS tumors (n = 24) and non-neoplastic lesions (n = 40) at Muhimbili National Hospital (MNH), Tanzania, were evaluated by diagnostic histopathology, immunohistology [anti-HHV-8 latency-associated nuclear antigen (LANA)] and serology for HIV (ELISA) and HHV-8 (IFA and ELISA). Results About 66.3% (n = 122) cases including AIDS-associated Kaposi's sarcoma (AKS) (n = 93), reactive conditions (n = 28) and only one non-KS tumour were HIV positive. Endemic KS (EKS) patients were mostly males (96.3%, 26/27) who were less (69.9%, 65/93) predominant in AIDS-associated (AKS). A high (89%) percentage of patients with anti-HHV-8 antibodies was found in the cohort including the HIV positive (92%) cases, males (81.2%), KS patients (93%), non-KS tumors (92%), and reactive conditions (75%). All HHV-8 seronegative KS cases were nodular stage whereas both sera and corresponding biopsies from early stage KS were HHV-8+. Assay sensitivity, positive predictive value (PPV) and specificity were 98.6%, 93.5% and 16.7% for IFA and 93.5%, 98.6% and 50.0% for ELISA respectively. Conclusion HHV-8 seroprevalence at MNH appears high as expected among AKS cases and males but also in non-KS patients. ELISA showed a combination of high HHV-8 sensitivity as well as higher PPV and specificity than IFA which however, showed higher sensitivity. The apparent stage-dependent, inverted serum HHV-8 immunoreactivity supports a notion of viral immune-segregation during KS development. Routine HHV-8 screening should be considered particularly in patients at risk of KS

  9. Korsakoff’s syndrome: a critical review

    PubMed Central

    Arts, Nicolaas JM; Walvoort, Serge JW; Kessels, Roy PC

    2017-01-01

    In this review, we present a survey on Korsakoff’s syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of KS and its definition, its epidemiology, and the lack of consensus criteria for its diagnosis. The cognitive and behavioral symptoms of KS, which include anterograde and retrograde amnesia, executive dysfunction, confabulation, apathy, as well as affective and social-cognitive impairments, are discussed. Moreover, recent insights into the underlying neurocognitive mechanisms of these symptoms are presented. In addition, the evidence so far on the etiology of KS is examined, highlighting the role of thiamine and alcohol and discussing the continuity hypothesis. Furthermore, the neuropathology of KS is reviewed, focusing on abnormalities in the diencephalon, including the mammillary bodies and thalamic nuclei. Pharmacological treatment options and nonpharmacological interventions, such as those based on cognitive rehabilitation, are discussed. Our review shows that thiamine deficiency (TD) is a crucial factor in the etiology of KS. Although alcohol abuse is by far the most important context in which TD occurs, there is no convincing evidence for an essential contribution of ethanol neurotoxicity (EN) to the development of WE or to the progression of WE to KS. Future research on the postmortem histopathological analysis of brain tissues of KS patients is crucial for the advancement of our knowledge of KS, especially for associating its symptoms with lesions in various thalamic nuclei. A necessary requirement for the advancement of studies on KS is the broad acceptance of a comprehensive definition and definite diagnostic criteria. Therefore, in this review, we propose such a definition of KS and draft outlines for prospective diagnostic criteria. PMID:29225466

  10. Aberrant Gene Expression Profiles in Pluripotent Stem Cells Induced from Fibroblasts of a Klinefelter Syndrome Patient*

    PubMed Central

    Ma, Yu; Li, Chunliang; Gu, Junjie; Tang, Fan; Li, Chun; Li, Peng; Ping, Ping; Yang, Shi; Li, Zheng; Jin, Ying

    2012-01-01

    Klinefelter syndrome (KS) is the most common male chromosome aneuploidy. Its pathophysiology is largely unexplained due to the lack of adequate models. Here, we report the derivation of induced pluripotent stem cell (iPSCs) lines from a KS patient with a karyotype of 47, XXY. Derived KS-iPSCs meet all criteria of normal iPSCs with the potential for germ cell differentiation. Although X chromosome inactivation occurs in all KS-iPSCs, genome-wide transcriptome analysis identifies aberrantly expressed genes associated with the clinical features of KS. Our KS-iPSCs can serve as a cellular model for KS research. Identified genes may become biomarkers for early diagnosis or potential therapeutic targets for KS and significantly accelerate the understanding, diagnosis, and treatment of Klinefelter syndrome. PMID:23019320

  11. Interesting presentation of Kounis syndrome secondary to amoxicillin/ clavulanate use: Coronary vasospasm and simultaneous appropriate implantable defibrillator shock.

    PubMed

    Canpolat, Uğur; Koçyiğit, Duygu; Aytemir, Kudret

    2017-07-01

    Kounis syndrome (KS) is defined as concurrent acute coronary syndrome and allergic or hypersensitivity reactions. Despite being increasingly reported, it is still an underdiagnosed entity. Several medications are already known to result in KS. Amoxicillin/clavulanic acid is a frequently used antibiotic, and its use has been linked with KS. The aim of the present report was to draw attention to rare clinical manifestation of KS following peroral amoxicillin/clavulanate use.

  12. The Role of CHD7 Mutations in Patients with Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

    PubMed Central

    Kim, Hyung-Goo; Layman, Lawrence C.

    2013-01-01

    Mutations in the chromodomain helicase DNA binding protein-7 (CHD7) cause CHARGE syndrome, which includes eye coloboma, heart malformations, atresia of the choanae, retardation of growth/development, genital anomalies, and ear abnormalities. CHARGE syndrome is usually sporadic, but is also autosomal dominant. CHD7 encodes a large protein that participates in chromatin remodeling and transcription. Findings from studies of mouse models employing ENU-mutagenesis or gene-trap methods recapitulate human CHARGE syndrome. CHARGE patients may manifest anosmia and/or hypogonadism, features that overlap with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). Similarly, IHH/KS patients may also display partial CHARGE features. Therefore, it has been hypothesized that IHH/KS represents a milder allelic variant of CHARGE syndrome, which has been supported by the identification of heterozygous CHD7 mutations in both normosmic IHH and KS. Developmental expression within the hypothalamus and the presence of human mutations indicate that CHD7 has an important role in puberty and reproduction. PMID:21856375

  13. Kounis syndrome and ziprasidone.

    PubMed

    Hamera, Leonard; Khishfe, Basem F

    2017-03-01

    Kounis syndrome (KS), described by Kounis and Zavras in 1991, is the manifestation of an allergic reaction preceding and leading to an acute coronary syndrome (ACS). There are three variants of Kounis Syndrome. Here we describe a novel case report of a type 1 variant secondary to Ziprasidone. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Klinefelter Syndrome and medical treatment: hypogonadism and beyond.

    PubMed

    Chang, Simon; Skakkebæk, Anne; Gravholt, Claus Højbjerg

    2015-01-01

    Klinefelter syndrome (KS), though described more than 70 years ago, still imposes significant diagnostic challenges. Based on data from epidemiological studies, KS is associated with increased morbidity and mortality. Although the pathophysiology and etiology behind these observations are as yet not well understood, a significant contribution of hypogonadism, central to the syndrome, is traditionally suspected. However, other unknown effects inherent to the syndrome also seem to modify the disease pattern. Herein we show that KS is under-diagnosed since only roughly 25% of patients are diagnosed and the mean age of diagnosis is during adult life. KS is associated with increased morbidity resulting in loss of 2-5 years in lifespan with increased mortality from different diseases and a poor socioeconomic profile. Small testes, hypergonadothrophic hypogonadism and cognitive impairment are usually found. The accompanying hypogonadism can lead to altered body composition and a risk of developing metabolic syndrome, type 2 diabetes and cardiovascular disease. Cancer risk is generally not different from that observed in the background population, although specific cancers like breast cancer and extragonadal germ cell tumors are seen more frequently in KS. The mainstay of medical treatment is testosterone replacement therapy to both attenuate acute and long-term consequences of hypogonadism and possibly prevent the frequent comorbidity. We believe that the diagnostic challenges should be tackled more efficiently, while there is also a pressing need to generate better evidence for timing and the proper dose of testosterone replacement. We advocate for a multidisciplinary setup with the inclusion of pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists and endocrinologists.

  15. Executive functioning in chronic alcoholism and Korsakoff syndrome.

    PubMed

    Maharasingam, Malini; Macniven, Jamie A B; Mason, Oliver J

    2013-01-01

    Korsakoff syndrome (KS) is characterized by dense anterograde and retrograde amnesia. There is often a temporal gradient to the retrograde amnesia, with earlier memories more readily recalled than recent memories. Executive functioning has also been found to be impaired in KS. However, research comparing executive functioning between chronic alcoholics (AL) and patients with KS has been relatively sparse to date. In a group comparison design, executive functioning in 15 KS patients and 16 chronic alcoholic patients was assessed using the Behavioural Assessment of the Dysexecutive Syndrome test (BADS) and other secondary measures. The KS group was found to be significantly more impaired than the AL group on overall performance on the BADS (p < .05). Korsakoff patients are significantly more impaired in executive functioning than non-Korsakoff chronic alcoholics. We thank the participants of the study and also acknowledge the support of the University of Nottingham, particularly Nadina Lincoln, and the North East London NHS Foundation Trust. We are also very grateful to the anonymous reviewers of earlier drafts of this manuscript for their invaluable comments.

  16. Kindler syndrome with palmoplantar hyperhidrosis and blonde hair.

    PubMed

    Maheshwari, Anshul; Dhaked, Daulat Ram; Mathur, Deepak K; Bhargava, Puneet

    2015-01-01

    Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement. A large number of other cutaneous and extracutaneous features have been described, which aid in diagnosing it. Generally KS has been found to be associated with hypohidrosis/anhidrosis. We herein present a rare case of KS with unique features.

  17. A case of Klinefelter syndrome with hypersexual desire

    PubMed Central

    Perampalam, Sumathy; Barker, Anthony; Nolan, Christopher J

    2017-01-01

    Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders. We present a 44-year-old man with KS who, despite having erectile dysfunction, paradoxically had increased libido. He used sildenafil to overcome his erectile dysfunction. Hypersexuality was manifested by very frequent masturbation, multiple sexual partners most of whom were casual, and a sexual offence conviction at the age of 17 years. Discussion focuses on the frequent failure of clinicians to diagnose KS, the neurocognitive, behavioural and psychiatric aspects of KS, this unusual presentation of hypersexuality in a man with KS, and the challenges of medical management of hypogonadism in a man with a history of a sexual offence. Learning points: Klinefelter syndrome (KS) is common in men (about 1 in 600 males), but the diagnosis is very often missed. In addition to classic features of hypogonadism, patients with KS can often have associated neurocognitive, behavioural and/or psychiatric disorders. More awareness of the association between KS and difficulties related to verbal skills in boys could improve rates of early diagnosis and prevent longer-term psychosocial disability. Hypersexuality in the context of hypogonadism raises the possibility of sex steroid independent mechanistic pathways for libido. Testosterone replacement therapy in KS with hypersexuality should be undertaken with caution using a multidisciplinary team approach. PMID:28883919

  18. Macrostructural abnormalities in Korsakoff syndrome compared with uncomplicated alcoholism.

    PubMed

    Pitel, A-L; Chételat, G; Le Berre, A P; Desgranges, B; Eustache, F; Beaunieux, H

    2012-04-24

    To distinguish, in patients with Korsakoff syndrome (KS), the structural brain abnormalities shared with alcoholic patients without KS (AL), from those specific to KS. MRI data were collected in 11 alcoholic patients with KS, 34 alcoholic patients without KS, and 25 healthy control subjects (CS). Gray and white matter volumes were compared in the 3 groups using a voxel-based approach. A conjunction analysis indicated a large pattern of shared gray and white matter volume deficits in AL and KS. There were graded effects of volume deficits (KS < AL < CS) in the medial portion of the thalami, hypothalamus (mammillary bodies), left insula, and genu of the corpus callosum. Abnormalities in the left thalamic radiation were observed only in KS. Our results indicate considerable similarities in the pattern of gray and white matter damage in AL and KS. This finding confirms the widespread neurotoxic effect of chronic alcohol consumption. Only a few cerebral regions, including the medial thalami, mammillary bodies, and corpus callosum, were more severely damaged in KS than in AL. The continuum of macrostructural damage from AL to KS is therefore restricted to key brain structures. Longitudinal investigations are required to determine whether alcoholic patients with medial thalamic volumes that are comparable to those of patients with KS are at increased risk of developing KS.

  19. Phenomenological characteristics of autobiographical memory in Korsakoff's syndrome.

    PubMed

    El Haj, Mohamad; Nandrino, Jean-Louis

    2017-10-01

    A body of research suggests compromise of autobiographical memory in Korsakoff's syndrome (KS). The present paper extends this literature by investigating the subjective experience of autobiographical recall in the syndrome. Patients with KS and controls were asked to retrieve autobiographical memories. After memory retrieval, participants were asked to rate phenomenological characteristics of their memories (i.e., reliving, back in time, remembering, realness, visual imagery, auditory imagery, language, emotion, rehearsal, importance, spatial recall and temporal recall). Analysis showed lower "Mean Phenomenological Experience" in the Korsakoff patients than in controls. However, the Korsakoff patients attributed relatively high emotional value and importance to their memories. Although our findings suggest compromised phenomenological reliving of autobiographical memory in patients with KS, affective characteristics such as emotion and importance are likely to play a main role in the subjective experience of the past in these patients. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Kallmann syndrome and paranoid schizophrenia: a rare combination.

    PubMed

    Verhoeven, Willem M A; Egger, Jos I M; Hovens, Johannes E; Hoefsloot, Lies

    2013-01-17

    Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.

  1. Array analyses of SmKS waves and the stratification of Earth's outermost core

    NASA Astrophysics Data System (ADS)

    Kaneshima, Satoshi

    2018-03-01

    We perform array analyses of SmKS waves in order to investigate the Vp structure of the Earth's outermost core. For earthquakes recorded by broadband seismometer networks in the world, we measure differential travel times between S3KS and S2KS, between S4KS and S3KS, and between S5KS and S3KS by array techniques. The differential times are well fit by a Vp model of the Earth's outermost core, KHOMC (Kaneshima and Helffrich, 2013). Differential slownesses of S4KS and S2KS relative to S2KS are also measured for the highest quality data. The measured slownesses, with unique sensitivity to the outer core 200-400 km below the CMB, are matched by KHOMC. These observations consolidate the evidence for the presence at the top of the outer core of a layer that has a distinctively steeper Vp gradient than the bulk of the outer core. We invert new SmKS differential time data set by a tau-p method and attempt to refine the Vp profile of KHOMC. The essential features of KHOMC are preserved after the model refinement. However, the newly estimated layer thickness is nearly 450 km, which is thicker than that of KHOMC. The Vp anomalies relative to PREM for the depths 400-800 km below the CMB are less than 0.03 km/s, consistent with the degree of agreement between different Vp models for the depth range.

  2. Kindler syndrome in mice and men.

    PubMed

    Duperret, Elizabeth K; Ridky, Todd W

    2014-09-01

    Kindler syndrome (KS) in humans is a severe skin blistering disease associated with inflammation and increased risk of epidermal squamous cell carcinoma (SCC). This disease is known to be caused by loss-of-function mutations in Kindlin-1, a focal adhesion β-integrin binding protein. Thus far, it has been unclear what specific signaling events occur in KS keratinocytes to promote tumorigenesis, especially since loss of β-integrins and focal adhesion complexes has been previously shown to prevent or delay tumor formation. In the April issue of Nature Medicine, Rognoni and colleagues generate a transgenic mouse lacking Kindlin-1 in the epidermis to model the key features of KS, and show that Kindlin-1 regulates Wnt and TGFβ signaling independent of β-integrins. These β1-integrin-independent functions of Kindlin-1 may contribute to the increased SCC risk in KS patients.

  3. Double KS0 photoproduction off the proton at CLAS

    NASA Astrophysics Data System (ADS)

    Chandavar, S.; Goetz, J. T.; Hicks, K.; Keller, D.; Kunkel, M. C.; Paolone, M.; Weygand, D. P.; Adhikari, K. P.; Adhikari, S.; Akbar, Z.; Ball, J.; Balossino, I.; Barion, L.; Bashkanov, M.; Battaglieri, M.; Bedlinskiy, I.; Biselli, A. S.; Briscoe, W. J.; Brooks, W. K.; Burkert, V. D.; Cao, F.; Carman, D. S.; Celentano, A.; Charles, G.; Chetry, T.; Ciullo, G.; Clark, L.; Cole, P. L.; Contalbrigo, M.; Crede, V.; D'Angelo, A.; Dashyan, N.; De Vita, R.; De Sanctis, E.; Defurne, M.; Deur, A.; Djalali, C.; Dupre, R.; Egiyan, H.; El Alaoui, A.; El Fassi, L.; Eugenio, P.; Fedotov, G.; Filippi, A.; Fradi, A.; Gavalian, G.; Ghandilyan, Y.; Gilfoyle, G. P.; Girod, F. X.; Glazier, D. I.; Gohn, W.; Golovatch, E.; Gothe, R. W.; Griffioen, K. A.; Guidal, M.; Guo, L.; Hafidi, K.; Hakobyan, H.; Hanretty, C.; Harrison, N.; Hattawy, M.; Heddle, D.; Holtrop, M.; Ilieva, Y.; Ireland, D. G.; Isupov, E. L.; Jenkins, D.; Johnston, S.; Joo, K.; Joosten, S.; Kabir, M. L.; Khachatryan, G.; Khachatryan, M.; Khandaker, M.; Kim, W.; Klein, A.; Klein, F. J.; Kubarovsky, V.; Lanza, L.; Lenisa, P.; Livingston, K.; MacGregor, I. J. D.; Markov, N.; McCracken, M. E.; McKinnon, B.; Meyer, C. A.; Mineeva, T.; Mokeev, V.; Movsisyan, A.; Munoz Camacho, C.; Nadel-Turonski, P.; Niccolai, S.; Niculescu, G.; Osipenko, M.; Ostrovidov, A. I.; Paremuzyan, R.; Park, K.; Pasyuk, E.; Phelps, W.; Pogorelko, O.; Price, J. W.; Prok, Y.; Protopopescu, D.; Raue, B. A.; Ripani, M.; Riser, D.; Ritchie, B. G.; Rizzo, A.; Rosner, G.; Sabatié, F.; Salgado, C.; Schumacher, R. A.; Sharabian, Y. G.; Simonyan, A.; Skorodumina, Iu.; Sokhan, D.; Smith, G. D.; Sparveris, N.; Stepanyan, S.; Strakovsky, I. I.; Strauch, S.; Ungaro, M.; Voutier, E.; Wei, X.; Zachariou, N.; Zhang, J.; Zhao, Z. W.; CLAS Collaboration

    2018-02-01

    The f0(1500 ) meson resonance is one of several contenders to have significant mixing with the lightest glueball. This resonance is well established from several previous experiments. Here we present the first photoproduction data for the f0(1500 ) via decay into the KS0KS0 channel using the CLAS detector. The reaction γ p →fJp →KS0KS0p , where J =0 ,2 , was measured with photon energies from 2.7-5.1 GeV. A clear peak is seen at 1500 MeV in the background subtracted invariant mass spectra of the two kaons. This is enhanced if the measured four-momentum transfer to the proton target is restricted to be less than 1.0 GeV2. By comparing data with simulations, it can be concluded that the peak at 1500 MeV is produced primarily at low t , which is consistent with a t -channel production mechanism.

  4. Kounis syndrome following canned tuna fish ingestion.

    PubMed

    De Gennaro, Luisa; Brunetti, Natale Daniele; Locuratolo, Nicola; Ruggiero, Massimo; Resta, Manuela; Diaferia, Giuseppe; Rana, Michele; Caldarola, Pasquale

    2017-04-01

    Kounis syndrome (KS) is a complex of cardiovascular symptoms and signs following either allergy or hypersensitivity and anaphylactic or anaphylactoid insults. We report the case of 57-year-old man, with hypertension and history of allergy, referred for facial rash and palpitations appeared after consumption of canned tuna fish. Suddenly, the patient collapsed: electrocardiogram showed ST-elevation in inferior leads. The patient was transferred from the spoke emergency room for coronary angio, which did not show any sign of coronary atherosclerosis. A transient coronary spasm was therefore hypothesized and the final diagnosis was KS. To the best of our knowledge, this is one of the first cases of KS following the ingestion of tuna fish. KS secondary to food allergy has also been reported, and shellfish ingestion has been considered as one of the most active KS inducer foods. Canned tuna fish too is well known as an allergy inducer. Tuna fish allergy should be considered, however, within the context of scombroid food poisoning, also called histamine fish poisoning. Fish with high levels of free histidine, the enzyme substrate converted to histamine by bacterial histidine decarboxylase, are those most often implicated in scombroid poisoning. Inflammatory mediators such as histamine constitute the pathophysiologic basis of Kounis hypersensitivity-associated acute coronary syndrome. Patients with coronary risk factors, allergic reaction after food ingestion, and suspected scombroid poisoning should be therefore carefully monitored for a prompt diagnosis of possible coronary complications.

  5. Kindler syndrome with severe mucosal involvement in childhood.

    PubMed

    Krishna, C V; Parmar, N V; Has, C

    2014-04-01

    Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and is characterized clinically by trauma-induced acral skin blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. We report a case of KS in a 7-year-old Indian girl with severe mucosal involvement of the oral cavity and genitourinary tract. Mutation analysis in the girl showed a homozygous FERMT1 mutation, c.862C>T, p.R288*. The clinical manifestations in patients with KS show significant inter individual variation, even with the same type of mutations and within members of the same family. Our case highlights the role of environmental modifiers in regulating the clinical features of KS. © 2014 British Association of Dermatologists.

  6. Kindler syndrome: a study of five Egyptian cases with evaluation of severity.

    PubMed

    Nofal, Eman; Assaf, Magda; Elmosalamy, Khaled

    2008-07-01

    Kindler syndrome (KS) is a rare genodermatosis characterized by four major features (acral blisters, photosensitivity, poikiloderma, and cutaneous atrophy) and many associated findings. The diagnosis of KS includes clinical features, ultrastructural findings, and, recently, immunostaining and genetic studies. Varying degrees of severity of the syndrome have been described. Five patients with clinical features consistent with KS were included in this study. All patients were subjected to histopathologic and ultrastructural studies. Cases 1 and 2 presented with severe major features, severe mucosal involvement, and many other associated findings. Case 3 presented with severe major features, but mild and limited mucosal involvement and other associated findings. Cases 4 and 5 showed mild major features and few other findings. Histopathology revealed nonspecific poikiloderma. Marked thickening of the lamina densa and splitting of the lamina lucida were the main ultrastructural findings. KS may be classified into mild, moderate, and severe according to the severity of the major features and mucosal involvement. Because histopathologic and ultrastructural findings are not pathognomonic, clinical features remain the mainstay for the diagnosis of KS, and the need for immunostaining with kindlin antibody and genetic studies may be restricted to early cases with incomplete features.

  7. Kounis syndrome due to antibiotics: A global overview from pharmacovigilance databases.

    PubMed

    Renda, Francesca; Marotta, Elena; Landoni, Giovanni; Belletti, Alessandro; Cuconato, Virginia; Pani, Luca

    2016-12-01

    Kounis syndrome (KS) is characterized by concurrent presence of anaphylactic and cardiac components. Available evidence suggests that antibiotics are frequently associated to KS. We therefore analyzed KS cases associated with antibiotics use from the two largest pharmacovigilance databases. Two pharmacovigilance databases, EudraVigilance and VigiLyze, were searched for cases reporting the adverse reaction "Kounis Syndrome" with antibiotics as suspected active substance. We analyzed the period from December 1st, 2001 to February 16th, 2016. For the most reported active substance, proportional reporting ratio (PRR) was calculated. A total of 10 cases of KS associated with antibiotic use were retrieved from EudraVigilance database. Mean patients' age was 58.2years and 70% were male. The most frequently reported suspected antibiotic was the combination amoxicillin/clavulanic acid (four cases). VigiLyze database reported 13 KS cases associated to antibiotics. Mean age was 56years and 61% of patients were male. The most frequently reported antibiotic was again the combination amoxicillin/clavulanic acid (five cases). Seven duplicate cases were identified, leaving a total of 16 cases of KS, with six of them associated to amoxicillin/clavulanic acid use. The PRR value for amoxicillin/clavulanic acid against other kinds of antibiotics was 2.62 considering EudraVigilance data and 1.61 considering VigiLyze data. This analysis provided a complete picture of the cases of KS associated with antibiotic use and identified a possible association between amoxicillin/clavulanic acid and KS. Since the number of cases is low, especially considering its wide use, further analyses are needed to confirm the association. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. A Cancer Gene Selection Algorithm Based on the K-S Test and CFS.

    PubMed

    Su, Qiang; Wang, Yina; Jiang, Xiaobing; Chen, Fuxue; Lu, Wen-Cong

    2017-01-01

    To address the challenging problem of selecting distinguished genes from cancer gene expression datasets, this paper presents a gene subset selection algorithm based on the Kolmogorov-Smirnov (K-S) test and correlation-based feature selection (CFS) principles. The algorithm selects distinguished genes first using the K-S test, and then, it uses CFS to select genes from those selected by the K-S test. We adopted support vector machines (SVM) as the classification tool and used the criteria of accuracy to evaluate the performance of the classifiers on the selected gene subsets. This approach compared the proposed gene subset selection algorithm with the K-S test, CFS, minimum-redundancy maximum-relevancy (mRMR), and ReliefF algorithms. The average experimental results of the aforementioned gene selection algorithms for 5 gene expression datasets demonstrate that, based on accuracy, the performance of the new K-S and CFS-based algorithm is better than those of the K-S test, CFS, mRMR, and ReliefF algorithms. The experimental results show that the K-S test-CFS gene selection algorithm is a very effective and promising approach compared to the K-S test, CFS, mRMR, and ReliefF algorithms.

  9. Measurement of the nuclear multiplicity ratio for Ks0 hadronization at CLAS

    NASA Astrophysics Data System (ADS)

    Daniel, A.; Hicks, K.; Brooks, W. K.; Hakobyan, H.; Adhikari, K. P.; Adikaram, D.; Aghasyan, M.; Amarian, M.; Anghinolfi, M.; Avakian, H.; Baghdasaryan, H.; Battaglieri, M.; Batourine, V.; Bedlinskiy, I.; Bennett, R. P.; Biselli, A. S.; Bookwalter, C.; Briscoe, W. J.; Burkert, V. D.; Carman, D. S.; Casey, L.; Celentano, A.; Chandavar, S.; Cole, P. L.; Contalbrigo, M.; Crede, V.; D'Angelo, A.; Dashyan, N.; De Vita, R.; De Sanctis, E.; Deur, A.; Dey, B.; Dickson, R.; Djalali, C.; Dodge, G. E.; Doughty, D.; Egiyan, H.; El Fassi, L.; Elouadrhiri, L.; Eugenio, P.; Fedotov, G.; Fegan, S.; Gabrielyan, M. Y.; Gevorgyan, N.; Gilfoyle, G. P.; Giovanetti, K. L.; Girod, F. X.; Goetz, J. T.; Gohn, W.; Golovatch, E.; Gothe, R. W.; Griffioen, K. A.; Guidal, M.; Guo, L.; Hanretty, C.; Heddle, D.; Holtrop, M.; Hyde, C. E.; Ilieva, Y.; Ireland, D. G.; Ishkhanov, B. S.; Isupov, E. L.; Jawalkar, S. S.; Jo, H. S.; Joo, K.; Kalantarians, N.; Keller, D.; Khandaker, M.; Khetarpal, P.; Kim, A.; Kim, W.; Klein, A.; Klein, F. J.; Kubarovsky, V.; Kuleshov, S. V.; Kuznetsov, V.; Lu, H. Y.; MacGregor, I. J. D.; Mao, Y.; Markov, N.; Mayer, M.; McAndrew, J.; McKinnon, B.; Meyer, C. A.; Mineeva, T.; Mirazita, M.; Mokeev, V.; Moutarde, H.; Munevar, E.; Nadel-Turonski, P.; Ni, A.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Osipenko, M.; Ostrovidov, A. I.; Paolone, M.; Pappalardo, L.; Paremuzyan, R.; Park, K.; Park, S.; Pasyuk, E.; Anefalos Pereira, S.; Phelps, E.; Pisano, S.; Pogorelko, O.; Pozdniakov, S.; Price, J. W.; Procureur, S.; Protopopescu, D.; Raue, B. A.; Ricco, G.; Rimal, D.; Ripani, M.; Rosner, G.; Rossi, P.; Sabatié, F.; Saini, M. S.; Salgado, C.; Schott, D.; Schumacher, R. A.; Seraydaryan, H.; Sharabian, Y. G.; Smith, G. D.; Sober, D. I.; Sokhan, D.; Stepanyan, S. S.; Stepanyan, S.; Strauch, S.; Taiuti, M.; Tang, W.; Taylor, C. E.; Tkachenko, S.; Ungaro, M.; Vernarsky, B.; Vineyard, M. F.; Voskanyan, H.; Voutier, E.; Watts, D. P.; Weinstein, L. B.; Weygand, D. P.; Wood, M. H.; Zana, L.; Zachariou, N.; Zhao, B.; Zhao, Z. W.

    2011-11-01

    The influence of cold nuclear matter on lepto-production of hadrons in semi-inclusive deep inelastic scattering is measured using the CLAS detector in Hall B at Jefferson Lab and a 5.014 GeV electron beam. We report the Ks0 multiplicity ratios for targets of C, Fe, and Pb relative to deuterium as a function of the fractional virtual photon energy z transferred to the Ks0 and the transverse momentum squared pT2 of the Ks0. We find that the multiplicity ratios for Ks0 are reduced in the nuclear medium at high z and low pT2, with a trend for the Ks0 transverse momentum to be broadened in the nucleus for large pT2.

  10. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

    PubMed

    Suzuki, Oscar; Kague, Erika; Bagatini, Kelly; Tu, Hongmin; Heljasvaara, Ritva; Carvalhaes, Lorenza; Gava, Elisandra; de Oliveira, Gisele; Godoi, Paulo; Oliva, Glaucius; Kitten, Gregory; Pihlajaniemi, Taina; Passos-Bueno, Maria-Rita

    2009-01-01

    To facilitate future diagnosis of Knobloch syndrome (KS) and better understand its etiology, we sought to identify not yet described COL18A1 mutations in KS patients. In addition, we tested whether mutations in this gene lead to absence of the COL18A1 gene product and attempted to better characterize the functional effect of a previously reported missense mutation. Direct sequencing of COL18A1 exons was performed in KS patients from four unrelated pedigrees. We used immunofluorescent histochemistry in skin biopsies to evaluate the presence of type XVIII collagen in four KS patients carrying two already described mutations: c.3277C>T, a nonsense mutation, and c.3601G>A, a missense mutation. Furthermore, we determined the binding properties of the mutated endostatin domain p.A1381T (c.3601G>A) to extracellular matrix proteins using ELISA and surface plasmon resonance assays. We identified four novel mutations in COL18A1, including a large deletion involving exon 41. Skin biopsies from KS patients revealed lack of type XVIII collagen in epithelial basement membranes and blood vessels. We also found a reduced affinity of p.A1381T endostatin to some extracellular matrix components. COL18A1 mutations involved in Knobloch syndrome have a distribution bias toward the coding exons of the C-terminal end. Large deletions must also be considered when point mutations are not identified in patients with characteristic KS phenotype. We report, for the first time, lack of type XVIII collagen in KS patients by immunofluorescent histochemistry in skin biopsy samples. As a final point, we suggest the employment of this technique as a preliminary and complementary test for diagnosis of KS in cases when mutation screening either does not detect mutations or reveals mutations of uncertain effect, such as the p.A1381T change.

  11. Study of Cabibbo suppressed decays of the Ds+ charmed-strange meson involving a KS0

    NASA Astrophysics Data System (ADS)

    Link, J. M.; Yager, P. M.; Anjos, J. C.; Bediaga, I.; Castromonte, C.; Machado, A. A.; Magnin, J.; Massafferri, A.; de Miranda, J. M.; Pepe, I. M.; Polycarpo, E.; Dos Reis, A. C.; Carrillo, S.; Casimiro, E.; Cuautle, E.; Sánchez-Hernández, A.; Uribe, C.; Vázquez, F.; Agostino, L.; Cinquini, L.; Cumalat, J. P.; Frisullo, V.; O'Reilly, B.; Segoni, I.; Stenson, K.; Tucker, R. S.; Butler, J. N.; Cheung, H. W. K.; Chiodini, G.; Gaines, I.; Garbincius, P. H.; Garren, L. A.; Gottschalk, E.; Kasper, P. H.; Kreymer, A. E.; Kutschke, R.; Wang, M.; Benussi, L.; Bianco, S.; Fabbri, F. L.; Zallo, A.; Reyes, M.; Cawlfield, C.; Kim, D. Y.; Rahimi, A.; Wiss, J.; Gardner, R.; Kryemadhi, A.; Chung, Y. S.; Kang, J. S.; Ko, B. R.; Kwak, J. W.; Lee, K. B.; Cho, K.; Park, H.; Alimonti, G.; Barberis, S.; Boschini, M.; Cerutti, A.; D'Angelo, P.; Dicorato, M.; Dini, P.; Edera, L.; Erba, S.; Inzani, P.; Leveraro, F.; Malvezzi, S.; Menasce, D.; Mezzadri, M.; Moroni, L.; Pedrini, D.; Pontoglio, C.; Prelz, F.; Rovere, M.; Sala, S.; Davenport, T. F.; Arena, V.; Boca, G.; Bonomi, G.; Gianini, G.; Liguori, G.; Lopes Pegna, D.; Merlo, M. M.; Pantea, D.; Ratti, S. P.; Riccardi, C.; Vitulo, P.; Göbel, C.; Otalora, J.; Hernandez, H.; Lopez, A. M.; Mendez, H.; Paris, A.; Quinones, J.; Ramirez, J. E.; Zhang, Y.; Wilson, J. R.; Handler, T.; Mitchell, R.; Engh, D.; Hosack, M.; Johns, W. E.; Luiggi, E.; Nehring, M.; Sheldon, P. D.; Vaandering, E. W.; Webster, M.; Sheaff, M.; Focus Collaboration

    2008-02-01

    We study the decay of Ds+ mesons into final states involving a KS0 and report the discovery of Cabibbo suppressed decay modes Ds+ →KS0π-π+π+ (179 ± 36 events) and Ds+ →KS0π+ (113 ± 26 events). The branching fraction ratios for the new modes are Γ (Ds+ →KS0π-π+π+)/Γ (Ds+ →KS0K-π+π+) = 0.18 ± 0.04 ± 0.05 and Γ (Ds+ →KS0π+)/Γ (Ds+ →KS0K+) = 0.104 ± 0.024 ± 0.014.

  12. Study of Cabibbo suppressed decays of the Ds+ charmed-strange meson involving a KS0

    NASA Astrophysics Data System (ADS)

    FOCUS Collaboration; Link, J. M.; Yager, P. M.; Anjos, J. C.; Bediaga, I.; Castromonte, C.; Machado, A. A.; Magnin, J.; Massafferri, A.; de Miranda, J. M.; Pepe, I. M.; Polycarpo, E.; Dos Reis, A. C.; Carrillo, S.; Casimiro, E.; Cuautle, E.; Sánchez-Hernández, A.; Uribe, C.; Vázquez, F.; Agostino, L.; Cinquini, L.; Cumalat, J. P.; Frisullo, V.; O'Reilly, B.; Segoni, I.; Stenson, K.; Tucker, R. S.; Butler, J. N.; Cheung, H. W. K.; Chiodini, G.; Gaines, I.; Garbincius, P. H.; Garren, L. A.; Gottschalk, E.; Kasper, P. H.; Kreymer, A. E.; Kutschke, R.; Wang, M.; Benussi, L.; Bianco, S.; Fabbri, F. L.; Zallo, A.; Reyes, M.; Cawlfield, C.; Kim, D. Y.; Rahimi, A.; Wiss, J.; Gardner, R.; Kryemadhi, A.; Chung, Y. S.; Kang, J. S.; Ko, B. R.; Kwak, J. W.; Lee, K. B.; Cho, K.; Park, H.; Alimonti, G.; Barberis, S.; Boschini, M.; Cerutti, A.; D'Angelo, P.; Dicorato, M.; Dini, P.; Edera, L.; Erba, S.; Inzani, P.; Leveraro, F.; Malvezzi, S.; Menasce, D.; Mezzadri, M.; Moroni, L.; Pedrini, D.; Pontoglio, C.; Prelz, F.; Rovere, M.; Sala, S.; Davenport, T. F.; Arena, V.; Boca, G.; Bonomi, G.; Gianini, G.; Liguori, G.; Lopes Pegna, D.; Merlo, M. M.; Pantea, D.; Ratti, S. P.; Riccardi, C.; Vitulo, P.; Göbel, C.; Otalora, J.; Hernandez, H.; Lopez, A. M.; Mendez, H.; Paris, A.; Quinones, J.; Ramirez, J. E.; Zhang, Y.; Wilson, J. R.; Handler, T.; Mitchell, R.; Engh, D.; Hosack, M.; Johns, W. E.; Luiggi, E.; Nehring, M.; Sheldon, P. D.; Vaandering, E. W.; Webster, M.; Sheaff, M.

    2008-02-01

    We study the decay of Ds+ mesons into final states involving a KS0 and report the discovery of Cabibbo suppressed decay modes Ds+→KS0πππ (179±36 events) and Ds+→KS0π (113±26 events). The branching fraction ratios for the new modes are Γ(Ds+→KS0πππ)Γ(Ds+→KS0Kππ)=0.18±0.04±0.05 and Γ(Ds+→KS0π)Γ(Ds+→KS0K)=0.104±0.024±0.014.

  13. Dynamics of the cognitive procedural learning in alcoholics with Korsakoff's syndrome.

    PubMed

    Beaunieux, Hélène; Pitel, Anne L; Witkowski, Thomas; Vabret, François; Viader, Fausto; Eustache, Francis

    2013-06-01

    While procedures acquired before the development of amnesia are likely to be preserved in alcoholic patients with Korsakoff's syndrome, the ability of Korsakoff patients (KS) to learn new cognitive procedures is called in question. According to the Adaptive Control of Thoughts model, learning a new cognitive procedure requires highly controlled processes in the initial cognitive phase, which may be difficult for KS with episodic and working memory deficits. The goals of the present study were to examine the learning dynamics of KS compared with uncomplicated alcoholic patients (AL) and control subjects (CS) and to determine the contribution of episodic and working memory abilities in cognitive procedural learning performance. Fourteen KS, 15 AL, and 15 CS were submitted to 40 trials (4 daily learning sessions) of the Tower of Toronto task (disk-transfer task similar to the tower of Hanoi task) as well as episodic and working memory tasks. The 10 KS who were able to perform the cognitive procedural learning task obtained lower results than both CS and AL. The cognitive phase was longer in the Korsakoff's syndrome group than in the other 2 groups but did not differ between the 3 groups any more when episodic memory abilities were controlled. Our results indicate that KS have impaired cognitive procedural learning abilities compared with both AL and CS. Episodic memory deficits observed in KS result in a delayed transition from the cognitive learning phase to more advanced learning phases and, as a consequence, in an absence of automation of the procedure within 40 trials. Copyright © 2012 by the Research Society on Alcoholism.

  14. Reproduction in men with Klinefelter syndrome: the past, the present, and the future.

    PubMed

    Paduch, Darius A; Bolyakov, Alexander; Cohen, Paula; Travis, Alexander

    2009-03-01

    Klinefelter syndrome (KS) is the most common chromosomal aberration in men. There are approximately 250,000 men with KS in the United States, and the prevalence of KS in male reproductive practices is 3 to 4%; however, most men are never diagnosed. KS has an effect on normal development, growth, social interactions, bone structure, and sexual and reproductive function, thus a multidisciplinary approach to men with KS is important in providing state of the art care to children and men with KS. Over the last 10 years, with advancements in artificial reproductive techniques and the successful delivery of healthy children from men with KS, the involvement of reproductive endocrinologists and urologists in the care of patients with KS is becoming commonplace. The new areas of intense research investigate optimal methods of hormonal manipulations, preservation of fertility in adolescents, and development of universal early screening programs for KS. This review provides the latest update in our understanding of the pathophysiology, natural history, and evolving paradigms of therapy in adolescents and men with KS.

  15. Aberrant ocular architecture and function in patients with Klinefelter syndrome.

    PubMed

    Brand, Cristin; Zitzmann, Michael; Eter, Nicole; Kliesch, Sabine; Wistuba, Joachim; Alnawaiseh, Maged; Heiduschka, Peter

    2017-10-13

    Klinefelter Syndrome (KS), the most common chromosomal disorder in men (47,XXY), is associated with numerous comorbidities. Based on a number of isolated case reports, we performed the first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization. Twenty-one KS patients and 26 male and 38 female controls underwent a variety of non-invasive examinations investigating ocular morphology (examination of retinal thickness, optic nerve head, and cornea) and function (visual field testing and quantification of ocular vessel density by optical coherence tomography angiography). In comparison to healthy controls, KS patients exhibited a smaller foveal avascular zone and a decreased retinal thickness due to a drastically thinner outer nuclear layer. The cornea of KS patients showed a decreased peripheral thickness and volume. In perimetry evaluation, KS patients required brighter stimuli and gave more irregular values. KS patients show an ocular phenotype including morphological and functional features, which is very likely caused by the supernumerary X chromosome. Thus, KS should not be limited to infertility, endocrine dysfunction, neurocognitive and psychosocial comorbidities. Defining an aberrant ocular morphology and function, awareness for possible eye problems should be raised.

  16. Fertility Preservation in Klinefelter Syndrome Patients during the Transition Period.

    PubMed

    Rives, Nathalie; Rives, Aurélie; Rondanino, Christine; Castanet, Mireille; Cuny, Ariane; Sibert, Louis

    2018-01-01

    Spermatozoa have occasionally been identified in ejaculate of adult Klinefelter syndrome (KS) patients but very exceptionally in KS adolescents. Spermatozoa can also be retrieved in testicular tissue of KS adolescents. The testis may also harbor spermatogonia and noncompletely differentiated germ cells. Neither clinical features nor hormonal parameters could predict germ cell recovery in KS adults or adolescents. No predictive factors can actually demonstrate that early diagnosis of KS would allow increasing the chance of sperm retrieval even if it has been suggested that semen quality may decline with age in KS patients. Leydig cell dysfunction may also be another factor that might affect the spermatogenesis process in XXY adolescents. Fertility preservation might be preferentially proposed in KS adolescents when semen sampling is possible, when the patient is able to consider alternative options to become a father, and to accept germ cell retrieval failure. However, precocious diagnosis of KS has also to be considered because it might not solely improve the possibility of fertility preservation after the onset of puberty, but also the medical care and the quality of life of these patients. © 2018 S. Karger AG, Basel.

  17. Procedural Learning and Memory Rehabilitation in Korsakoff's Syndrome - a Review of the Literature.

    PubMed

    Oudman, Erik; Nijboer, Tanja C W; Postma, Albert; Wijnia, Jan W; Van der Stigchel, Stefan

    2015-06-01

    Korsakoff's syndrome (KS) is a chronic neuropsychiatric disorder caused by alcohol abuse and thiamine deficiency. Patients with KS show restricted autonomy due to their severe declarative amnesia and executive disorders. Recently, it has been suggested that procedural learning and memory are relatively preserved in KS and can effectively support autonomy in KS. In the present review we describe the available evidence on procedural learning and memory in KS and highlight advances in memory rehabilitation that have been demonstrated to support procedural memory. The specific purpose of this review was to increase insights in the available tools for successful memory rehabilitation and give suggestions how to apply these tools in clinical practice to increase procedural learning in KS. Current evidence suggests that when memory rehabilitation is adjusted to the specific needs of KS patients, this will increase their ability to learn procedures and their typically compromised autonomy gets enhanced.

  18. Fluid intelligence, traits of personality and personality disorders in a cohort of adult KS patients with the classic 47, XXY karyotype.

    PubMed

    Liberato, D; Granato, S; Grimaldi, D; Rossi, F M; Tahani, N; Gianfrilli, D; Anzuini, A; Lenzi, A; Cavaggioni, G; Radicioni, A F

    2017-11-01

    Klinefelter's syndrome (KS) is associated with specific neurobehavioral features and personality traits. The aim of our study was to investigate fluid intelligence, personality traits and personality disorders (PD) and possible correlations with testosterone in a cohort of adult KS patients. We analyzed 58 adult KS patients with the classic 47, XXY karyotype. The Structured Clinical Interview for axis II disorders was used to assess DSM IV personality disorders. Personality traits were assessed using MMPI-2. Fluid intelligence was tested by using Raven's Standard Progressive Matrices (SPM) Test. Testosterone blood concentration was measured by CMIA. PD prevalence was 31%. Four altered MMPI scales (Social Responsibility, Dominance, Ego Strength and Repression) were found in more than 40% of patients. Overcontrolled hostility and MacAndrew Alcoholism Scale-Revised scales were altered in the PD- group only. Biz-Odd Thinking and Post-Traumatic Stress Disorder scale were associated with the presence of personality disorder. The raw SPM score was 44 ± 10.8 without any significant correlation with testosterone. No significant difference in mean age, SPM raw score and MMPI score was observed between eugonadal, hypogonadal and treated patients. Most KS patients had average fluid intelligence. PD prevalence was higher than in the general population. Testosterone was not correlated with fluid intelligence, personality traits or PD, but a reduction in marital distress was observed in treated patients. This could suggest that testosterone therapy can improve physical symptoms and this effect could also improve relationship abilities and wellness awareness.

  19. 78 FR 33963 - Amendment of Class E Airspace; Atwood, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-06

    ...; Airspace Docket No. 11-ACE-24] Amendment of Class E Airspace; Atwood, KS AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Final rule. SUMMARY: This action amends Class E airspace at Atwood, KS... published in the Federal Register a notice of proposed rulemaking (NPRM) to amend Class E airspace for the...

  20. 77 FR 68681 - Amendment of Class E Airspace; Anthony, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-16

    ...-0652; Airspace Docket No. 12-ACE-4] Amendment of Class E Airspace; Anthony, KS AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Final rule. SUMMARY: This action amends Class E airspace at Anthony, KS... the Federal Register a notice of proposed rulemaking (NPRM) to amend Class E airspace for the Anthony...

  1. The KS Method in Light of Generalized Euler Parameters.

    DTIC Science & Technology

    1980-01-01

    motion for the restricted two-body problem is trans- formed via the Kustaanheimo - Stiefel transformation method (KS) into a dynamical equation in the... Kustaanheimo - Stiefel2 transformation method (KS) in the two-body problem. Many papers have appeared in which specific problems or applications have... TRANSFORMATION MATRIX P. Kustaanheimo and E. Stiefel2 proposed a regularization method by intro- ducing a 4 x 4 transformation matrix and four-component

  2. Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis.

    PubMed

    Chehrazi, Mohammad; Rahimiforoushani, Abbas; Sabbaghian, Marjan; Nourijelyani, Keramat; Sadighi Gilani, Mohammad Ali; Hoseini, Mostafa; Vesali, Samira; Yaseri, Mehdi; Alizadeh, Ahad; Mohammad, Kazem; Samani, Reza Omani

    2017-01-01

    The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This study has been designed to evaluate skewed regression model analysis for data collected from microsurgical testicular sperm extraction (micro-TESE) among azoospermic patients with and without non-mosaic KS syndrome. This cohort study compared the micro-TESE outcome between 134 men with classic KS and 537 men with NOA and normal karyotype who were referred to Royan Institute between 2009 and 2011. In addition to our main outcome, which was sperm retrieval, we also used logistic and skewed regression analyses to compare the following demographic and hormonal factors: age, level of follicle stimulating hormone (FSH), luteinizing hormone (LH), and testosterone between the two groups. A comparison of the micro-TESE between the KS and control groups showed a success rate of 28.4% (38/134) for the KS group and 22.2% (119/537) for the control group. In the KS group, a significantly difference (P<0.001) existed between testosterone levels for the successful sperm retrieval group (3.4 ± 0.48 mg/mL) compared to the unsuccessful sperm retrieval group (2.33 ± 0.23 mg/mL). The index for quasi Akaike information criterion (QAIC) had a goodness of fit of 74 for the skewed model which was lower than logistic regression (QAIC=85). According to the results, skewed regression is more efficient in estimating sperm retrieval success when the data from patients with KS are analyzed. This finding should be investigated by conducting additional studies with different data structures.

  3. Diabetes mellitus in children and adolescents with genetic syndromes.

    PubMed

    Schmidt, F; Kapellen, T M; Wiegand, S; Herbst, A; Wolf, J; Fröhlich-Reiterer, E E; Rabl, W; Rohrer, T R; Holl, R W

    2012-11-01

    Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS) and Down syndrome (DS). Longitudinal data for 43 521 patients with DM onset at age < 20 years were collected from 309 treatment centres in Germany and Austria using the DPV software. Data included anthropometric parameters, type of diabetes, mean age, age at diabetes onset, daily insulin dose, HbA 1c , micro- and macroalbuminuria, retinopathy and dyslipidaemia. Descriptive statistics and standard statistical tests were used for data analysis. In total, 205 DM patients had one of the following syndromes: DS (141 patients), TS (24), PWS (23), FA (5), AS (5), KS (4), BBS (2) and BSS (1). Diabetes-specific antibodies were positive in the majority of patients with DS, TS and FA. Despite the well-known association between DM and certain syndromic disorders, the number of affected patients in the German and Austrian paediatric diabetic population is very low. Nevertheless, physicians should be aware of syndromic forms of diabetes. Joint multicentre analyses are needed to draw relevant conclusions. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

  4. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome

    PubMed Central

    Suzuki, Oscar; Kague, Erika; Bagatini, Kelly; Tu, Hongmin; Heljasvaara, Ritva; Carvalhaes, Lorenza; Gava, Elisandra; de Oliveira, Gisele; Godoi, Paulo; Oliva, Glaucius; Kitten, Gregory; Pihlajaniemi, Taina; Passos-Bueno, Maria-Rita

    2009-01-01

    Purpose To facilitate future diagnosis of Knobloch syndrome (KS) and better understand its etiology, we sought to identify not yet described COL18A1 mutations in KS patients. In addition, we tested whether mutations in this gene lead to absence of the COL18A1 gene product and attempted to better characterize the functional effect of a previously reported missense mutation. Methods Direct sequencing of COL18A1 exons was performed in KS patients from four unrelated pedigrees. We used immunofluorescent histochemistry in skin biopsies to evaluate the presence of type XVIII collagen in four KS patients carrying two already described mutations: c.3277C>T, a nonsense mutation, and c.3601G>A, a missense mutation. Furthermore, we determined the binding properties of the mutated endostatin domain p.A1381T (c.3601G>A) to extracellular matrix proteins using ELISA and surface plasmon resonance assays. Results We identified four novel mutations in COL18A1, including a large deletion involving exon 41. Skin biopsies from KS patients revealed lack of type XVIII collagen in epithelial basement membranes and blood vessels. We also found a reduced affinity of p.A1381T endostatin to some extracellular matrix components. Conclusions COL18A1 mutations involved in Knobloch syndrome have a distribution bias toward the coding exons of the C-terminal end. Large deletions must also be considered when point mutations are not identified in patients with characteristic KS phenotype. We report, for the first time, lack of type XVIII collagen in KS patients by immunofluorescent histochemistry in skin biopsy samples. As a final point, we suggest the employment of this technique as a preliminary and complementary test for diagnosis of KS in cases when mutation screening either does not detect mutations or reveals mutations of uncertain effect, such as the p.A1381T change. PMID:19390655

  5. Stratification of earth's outermost core inferred from SmKS array data

    NASA Astrophysics Data System (ADS)

    Kaneshima, Satoshi; Matsuzawa, Takanori

    2015-12-01

    S mKS arrivals recorded by large-scale broadband seismometer arrays are analyzed to investigate the depth profile of P wave speed ( V p ) in the outermost core. The V p structure of the upper 700 km of the outer core has been determined using S mKS waves of Fiji-Tonga events recorded at stations in Europe. According to a recent outer core model (KHOMC), the V p value is 0.45 % slower at the core mantle boundary (CMB) than produced by the Preliminary Reference Earth Model (PREM), and the slow anomaly gradually diminishes to insignificant values at ˜300 km below the CMB. In this study, after verifying these KHOMC features, we show that the differential travel times measured for S mKS waves that are recorded by other large-scale arrays sampling laterally different regions are well matched by KHOMC. We also show that KHOMC precisely fits the observed relative slowness values between S2KS, S3KS, and S4KS (S mKS waves with m= 2, 3, and 4). Based on these observations, we conclude that S mKS predominantly reflect the outer core structure. Then we evaluate biases of secondary importance which may be caused by mantle heterogeneity. The KHOMC V p profile can be characterized by a significant difference in the radial V p gradient between the shallower 300 km and the deeper part of the upper 700 km of the core. The shallower part has a V p gradient of -0.0018 s -1, which is steeper by 0.0001 s -1 when compared to the deeper core presented by PREM. The steeper V p gradient anomaly of the uppermost core corresponds to a radial variation in the pressure derivative of the bulk modulus, K '= d K/ d P. The K ' value is 3.7, which is larger by about 0.2 than that of the deeper core. The radial variation in K ' is too large to have a purely thermal origin, according to recent ab initio calculations on liquid iron alloys, and thus requires a thick and compositionally stratified layering at the outermost outer core.

  6. Genetics Home Reference: Kabuki syndrome

    MedlinePlus

    ... 305858. Review. Citation on PubMed Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, ...

  7. Beyond Thiamine: Treatment for Cognitive Impairment in Korsakoff's Syndrome.

    PubMed

    Johnson, Justin M; Fox, Valerie

    2018-03-27

    Wernicke's encephalopathy is a condition whose treatment many consultation-liaison psychiatrists know quite well. Less clear, however, is the treatment of its dementia disorder descendent, the Korsakoff's syndrome (KS). This article seeks to review treatment options and provide recommendations for consultation-liaison psychiatrists treating cognitive impairment in KS. In this nonsystematic review, we reviewed PubMed, CINAHL Plus, and Google Scholar for published reports and studies regarding treatment of KS. The literature revealed case reports and placebo-controlled trials of various medications for treatment of KS, though the samples sizes were small and were mostly case reports. There is more attention devoted toward medications used in other dementia disorders, such as donepezil and memantine. The literature revealed more studies around behavioral interventions recommended for treatment of memory impairment in KS and they focused on cognitive remediation and environmental adaptation, such as the use of PDAs or alarms. There is no single, well-studied intervention proven effective as a primary treatment for cognitive impairment in KS. An approach of using environmental modifications in a well-structured living environment, combined with various cognitive interventions, such as pictorial associations, and perhaps a trial of donepezil or memantine, likely represents the best strategy for treating long-term cognitive impairment in KS. Published by Elsevier Inc.

  8. Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

    PubMed

    Gibson, Christopher E; Boodhansingh, Kara E; Li, Changhong; Conlin, Laura; Chen, Pan; Becker, Susan A; Bhatti, Tricia; Bamba, Vaneeta; Adzick, N Scott; De Leon, Diva D; Ganguly, Arupa; Stanley, Charles A

    2018-06-14

    Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. Hyperinsulinism was diagnosed in 12 girls with Turner syndrome. Six were diazoxide-unresponsive; 3 had pancreatectomies. The incidence of Turner syndrome among CHOP patients with hyperinsulinism (10 of 1,050 from 1997 to 2017) was 48 times more frequent than expected. The only consistent chromosomal anomaly in these girls was the presence of a 45,X cell line. Studies of isolated islets from 1 case showed abnormal elevated cytosolic calcium and heightened sensitivity to amino acid-stimulated insulin release; similar alterations were demonstrated in mouse islets treated with a KDM6A inhibitor. These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome. © 2018 S. Karger AG, Basel.

  9. Kallman syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Vogl, T.J.; Stemmler, J.; Bergman, C.

    To identify morphologic differences between Kallman syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) and establish a role for magnetic resonance (MR) imaging in these disorders. Twenty-eight patients were compared with 10 eugonal male volunteers. Eighteen patients had KS (hypogonadotropic hypogonadism with anosmia) and 10 had IHH. All participants underwent hormone analysis, a sniff-bottle smell test, and gadolinium-enhanced MR imaging. Changes in the hypothalamic-hypophyseal region and the rhinencephalon were evaluated. MR imaging revealed intracranial morphologic changes in all patients on plain T1-weighted sections. Seventeen patients with KS demonstrated aplasia of an olfactory bulb; one olfactory sulcus was absent in six, rudimentarymore » in four, and normal in eight. Olfactory bulbs were present in all 10 IHH patients and three showed one slightly hypoplastic bulb. Ten patients with KS and three with IHH showed an enlarged paranasal sinus system. Further MR findings were similar. MR imaging demonstrates abnormalities of the rhinencephalon present in KS patients and occasionally absent in IHH patients. 18 refs., 10 figs., 1 tab.« less

  10. Molecular basis for the Kallmann syndrome-linked fibroblast growth factor receptor mutation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Thurman, Ryan D.; Kathir, Karuppanan Muthusamy; Rajalingam, Dakshinamurthy

    Highlights: Black-Right-Pointing-Pointer The structural basis of the Kallmann syndrome is elucidated. Black-Right-Pointing-Pointer Kallmann syndrome mutation (A168S) induces a subtle conformational change(s). Black-Right-Pointing-Pointer Structural interactions mediated by beta-sheet G are most perturbed. Black-Right-Pointing-Pointer Ligand (FGF)-receptor interaction(s) is completely abolished by Kallmann mutation. Black-Right-Pointing-Pointer Kallmann mutation directly affects the FGF signaling process. -- Abstract: Kallmann syndrome (KS) is a developmental disease that expresses in patients as hypogonadotropic hypogonadism and anosmia. KS is commonly associated with mutations in the extracellular D2 domain of the fibroblast growth factor receptor (FGFR). In this study, for the first time, the molecular basis for the FGFR associatedmore » KS mutation (A168S) is elucidated using a variety of biophysical experiments, including multidimensional NMR spectroscopy. Secondary and tertiary structural analysis using far UV circular dichroism, fluorescence and limited trypsin digestion assays suggest that the KS mutation induces subtle tertiary structure change in the D2 domain of FGFR. Results of isothermal titration calorimetry experiments show the KS mutation causes a 10-fold decrease in heparin binding affinity and also a complete loss in ligand (FGF-1) binding. {sup 1}H-{sup 15}N chemical perturbation data suggest that complete loss in the ligand (FGF) binding affinity is triggered by a subtle conformational change that disrupts crucial structural interactions in both the heparin and the FGF binding sites in the D2 domain of FGFR. The novel findings reported in this study are expected to provide valuable clues toward a complete understanding of the other genetic diseases linked to mutations in the FGFR.« less

  11. Testicular lactate content is compromised in men with Klinefelter Syndrome.

    PubMed

    Alves, Marco G; Martins, Ana D; Jarak, Ivana; Barros, Alberto; Silva, Joaquina; Sousa, Mário; Oliveira, Pedro F

    2016-03-01

    Klinefelter syndrome (KS) is the most common genetic cause of human infertility, but the mechanism(s) responsible for its phenotype remain largely unknown. KS is associated with alterations in body composition and with a higher risk of developing metabolic diseases. We therefore hypothesized that KS men seeking fertility treatment possess an altered testicular metabolism profile that may hamper the nutritional support of spermatogenesis. Testicular biopsies from control (46, XY) (n = 6) and KS (47, XXY) (n = 6) individuals were collected and analyzed by proton high-resolution magic-angle spinning nuclear magnetic resonance spectroscopy. The mRNA and protein expression of crucial glycolysis-associated enzymes and transporters were evaluated in parallel by quantitative PCR and Western blot, respectively. Our data revealed altered regulation of glucose transporters (GLUT1 and GLUT3); phosphofructokinase 1, liver isoform (PFKL); and lactate dehydrogenase A (LDHA) expression in the testis of KS patients. Moreover, we detected a severe reduction in lactate and creatine accumulation within testicular tissue from KS men. The aberrant levels of the biomarkers detected in testicular biopsies of KS men may therefore be associated with the infertility phenotypes presented by these men. Mol. Reprod. Dev. 83: 208-216, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  12. Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome.

    PubMed

    Franik, S; Hoeijmakers, Y; D'Hauwers, K; Braat, D D M; Nelen, W L M; Smeets, D; Claahsen-van der Grinten, H L; Ramos, L; Fleischer, K

    2016-09-01

    Should fertility preservation be offered to children with Klinefelter syndrome (KS)? Current evidence shows that fertility preservation should not be offered to adolescents with KS younger than 16 years because of lower retrieval rates for germ cells by testicular sperm extraction (TESE) compared with retrieval rates for adolescents and adults between 16 and 30 years. KS, the most common chromosomal disorder in men leading to non-obstructive azoospermia, is caused by the presence of at least one additional X chromosome. The onset of puberty in adolescents with KS leads to progressive degeneration of the testicular environment. The impact of the subsequent tissue degeneration on fertility potential of patients with KS is unknown, but in previous literature it has been suggested that fertility preservation should be started in adolescents as early as possible. However spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. This review discusses the current evidence for fertility preservation in children and adolescents and possible prognostic markers for fertility treatment in KS. An extensive literature search was conducted, searching Pubmed, Embase, Cinahl and Web of Science from origin until April 2016 for 'Klinefelter syndrome' and 'fertility' and various synonyms. Titles and abstracts have been scanned manually by the authors for eligibility. In total 76 studies were found to be eligible for inclusion in this review. Information from the papers was extracted separately by two authors. Various studies have shown that pre-pubertal children with KS already have a reduced number of germ cells despite a normal hormonal profile during childhood. The presence of spermatozoa in the ejaculate of adolescents with KS is extremely rare. Using TESE, the retrieval rates of spermatozoa for adolescents younger than 16 years old are much lower (0-20%) compared with those for adolescents and young adults between 16 and 30 years old

  13. Subcloning of three osteoblastic cell lines with distinct differentiation phenotypes from the mouse osteoblastic cell line KS-4.

    PubMed

    Yamashita, T; Ishii, H; Shimoda, K; Sampath, T K; Katagiri, T; Wada, M; Osawa, T; Suda, T

    1996-11-01

    Three distinct osteoblastic cell lines (KS418, KS460, and KS483) were subcloned from the mouse osteoblastic KS-4 cells, which possessed the abilities not only to differentiate into mature osteoblasts, but also to support osteoclast differentiation in coculture with spleen cells. The order of the magnitude of the basal alkaline phosphatase (ALP) activity was KS483 > KS418 > KS460. KS483 cells were also more differentiated than KS418 and KS460 in terms of ALP activity and osteocalcin production, when cultured in growth medium containing 10% fetal bovine serum. In long-term culture, KS418 and KS483 apparently differentiated into mature osteoblasts and formed calcified nodules without addition of beta-glycerophosphate. Electron microscopic analysis demonstrated that calcification occurring in the nodules was initiated in the matrix vesicles as observed in bone formation in vivo. Nodule formation and mineral deposition occurred simultaneously in the presence of beta-glycerophosphate, but the former always preceded the latter without addition of beta-glycerophosphate. In contrast, KS460 cells did not show time-dependent increases of ALP activity, type I collagen expression and osteocalcin production, which were induced by treatment with recombinant osteogenic protein-1 (OP-1). The three cell lines similarly supported osteoclast differentiation in coculture with spleen cells in response to 1,25-dihydroxyvitamin D3. These results indicate that the three cell lines subcloned from the original KS-4 cells represent phenotypically distinct osteoblasts during osteoblast differentiation, but are equipped similarly with the capacity to support osteoclast differentiation. The subcloned cells of the KS-4 series may provide useful systems in which to study osteoblast differentiation and function.

  14. Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome.

    PubMed

    Kleiman, Sandra E; Yogev, Leah; Lehavi, Ofer; Yavetz, Haim; Hauser, Ron

    2016-06-01

    Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis. Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group). Each group was subdivided into mixed atrophy (containing some mature sperm cells) or Sertoli cell only syndrome according to testicular histology and cytology observations. Semi-quantitative histological morphometric analysis (interstitial hyperplasia and hyalinization, tubules with cells and abnormal thickness of the basement membrane) and expression of spermatogenetic markers (DAZ, RBM, BOLL, and CDY1) were evaluated and compared among those subgroups. Clear differences in the histological morphometry and spermatogenetic marker expression were noted between the KS and NK groups. There was a significant difference in the expression of spermatogenetic markers between the subgroups of the NK group (as expected), while no difference could be discerned between the two subgroups in the KS group. We conclude that molecular spermatogenetic markers have a pattern of expression in men with KS that is distinctively different from that of men with NK, and that it precludes and limits their use for predicting spermatogenesis in the former. It is suggested that this difference might be due to the specific highly abnormal histological morphometric parameters in KS specimens.

  15. Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile☆

    PubMed Central

    Skakkebæk, Anne; Gravholt, Claus Højbjerg; Rasmussen, Peter Mondrup; Bojesen, Anders; Jensen, Jens Søndergaard; Fedder, Jens; Laurberg, Peter; Hertz, Jens Michael; Østergaard, John Rosendahl; Pedersen, Anders Degn; Wallentin, Mikkel

    2013-01-01

    Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders. We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The KS patients had significantly smaller total brain volume (TBV), total gray matter volume (GMV) and total white matter volume (WMV) compared to controls, whereas no volumetric difference in cerebral spinal fluid (CSF) was found. There were no differences in TBV, GMV, WMV or CSF between testosterone treated KS (T-KS) and untreated KS (U-KS) patients. Compared to controls, KS patients had significantly decreased GMV bilaterally in insula, putamen, caudate, hippocampus, amygdala, temporal pole and frontal inferior orbita. Additionally, the right parahippocampal region and cerebellar volumes were reduced in KS patients. KS patients had significantly larger volumes in right postcentral gyrus, precuneus and parietal regions. Multivariate classification analysis discriminated KS patients from controls with 96.9% (p < 0.001) accuracy. Regression analyses, however, revealed no significant association between GMV differences and cognitive and psychological factors within the KS patients and controls or the groups combined. These results show that although gene dosage effect of having and extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities no simple correspondence links these measures. PMID:24266006

  16. Revisiting the continuum hypothesis: toward an in-depth exploration of executive functions in korsakoff syndrome.

    PubMed

    Brion, Mélanie; Pitel, Anne-Lise; Beaunieux, Hélène; Maurage, Pierre

    2014-01-01

    Korsakoff syndrome (KS) is a neurological state mostly caused by alcohol-dependence and leading to disproportionate episodic memory deficits. KS patients present more severe anterograde amnesia than Alcohol-Dependent Subjects (ADS), which led to the continuum hypothesis postulating a progressive increase in brain and cognitive damages during the evolution from ADS to KS. This hypothesis has been extensively examined for memory but is still debated for other abilities, notably executive functions (EF). EF have up to now been explored by unspecific tasks in KS, and few studies explored their interactions with memory. Exploring EF in KS by specific tasks based on current EF models could thus renew the exploration of the continuum hypothesis. This paper will propose a research program aiming at: (1) clarifying the extent of executive dysfunctions in KS by tasks focusing on specific EF subcomponents; (2) determining the differential EF deficits in ADS and KS; (3) exploring EF-memory interactions in KS with innovative tasks. At the fundamental level, this exploration will test the continuum hypothesis beyond memory. At the clinical level, it will propose new rehabilitation tools focusing on the EF specifically impaired in KS.

  17. Revisiting the Continuum Hypothesis: Toward an In-Depth Exploration of Executive Functions in Korsakoff Syndrome

    PubMed Central

    Brion, Mélanie; Pitel, Anne-Lise; Beaunieux, Hélène; Maurage, Pierre

    2014-01-01

    Korsakoff syndrome (KS) is a neurological state mostly caused by alcohol-dependence and leading to disproportionate episodic memory deficits. KS patients present more severe anterograde amnesia than Alcohol-Dependent Subjects (ADS), which led to the continuum hypothesis postulating a progressive increase in brain and cognitive damages during the evolution from ADS to KS. This hypothesis has been extensively examined for memory but is still debated for other abilities, notably executive functions (EF). EF have up to now been explored by unspecific tasks in KS, and few studies explored their interactions with memory. Exploring EF in KS by specific tasks based on current EF models could thus renew the exploration of the continuum hypothesis. This paper will propose a research program aiming at: (1) clarifying the extent of executive dysfunctions in KS by tasks focusing on specific EF subcomponents; (2) determining the differential EF deficits in ADS and KS; (3) exploring EF-memory interactions in KS with innovative tasks. At the fundamental level, this exploration will test the continuum hypothesis beyond memory. At the clinical level, it will propose new rehabilitation tools focusing on the EF specifically impaired in KS. PMID:25071526

  18. Involvement of Vascular Endothelial Growth Factor in Kaposi's Sarcoma Associated with Acquired Immunodeficiency Syndrome

    PubMed Central

    Sakurada, Shinsaku; Kato, Tetsuji; Mashiba, Kohichi; Mori, Shigeo

    1996-01-01

    To examine the role of vascular endothelial growth factor (VEGF) in the development of edema associated with Kaposi's sarcoma (KS) in acquired immunodeficiency syndrome (AIDS), we exploited animal model systems to detect the activity that induces vascular hyper‐permeability (VHP) using cultured AIDS‐KS spindle cells. Cultured AIDS‐KS spindle cells and conditioned medium (AIDS‐KS‐CM) that had been semi‐purified through a heparin affinity column were tested for the ability to induce VHP in animals. The AIDS‐KS spindle cells and AIDS‐KS‐CM induced VHP that was histamine‐independent. The VHP‐inducing activity was detected in the 0.5 M NaCl fraction from the heparin affinity column and was blocked by anti‐VEGF neutralizing antibody. In addition, the production of VEGF was demonstrated in fresh AIDS‐KS tissue as well as in cultured AIDS‐KS cells, while control cells were negative for VEGF production. From these observations, we concluded that AIDS‐KS cells produce a factor(s) that promotes VHP, and this factor could be VEGF. PMID:9045943

  19. Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.

    PubMed

    Stochholm, Kirstine; Bojesen, Anders; Jensen, Anne Skakkebæk; Juul, Svend; Gravholt, Claus Højbjerg

    2012-01-01

    To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson and 'others'). Denmark 1978-2006. All men diagnosed with KS (N=934) or 47,XYY (N=161) at risk and their age- and calendar-time-matched controls (N=88 979 and 15 356, respectively). The incidence of convictions was increased in men with KS (omitting traffic offenses) compared to controls with a HR of 1.40 (95% CI 1.23 to 1.59, p<0.001), with significant increases in sexual abuse, burglary, arson and 'others', but with a decreased risk of traffic and drug-related offenses. The incidence of convictions was significantly increased among men with 47,XYY compared to controls with a HR of 1.42 (95% CI 1.14 to 1.77, p<0.005) in all crime types, except drug-related crimes and traffic. Adjusting for socioeconomic variables (education, fatherhood, retirement and cohabitation) reduced the total HR for both KS and 47,XYY to levels similar to controls, while some specific crime types (sexual abuse, arson, etc) remained increased. The overall risk of conviction (excluding traffic offenses) was moderately increased in men with 47,XYY or KS; however, it was similar to controls when adjusting for socioeconomic parameters. Convictions for sexual abuse, burglary, arson and 'others' were significantly increased. The increased risk of convictions may be partly or fully explained by the poor socioeconomic conditions related to the chromosome aberrations.

  20. Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study

    PubMed Central

    Stochholm, Kirstine; Bojesen, Anders; Jensen, Anne Skakkebæk; Juul, Svend

    2012-01-01

    Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Design Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson and ‘others’). Setting Denmark 1978–2006. Participants All men diagnosed with KS (N=934) or 47,XYY (N=161) at risk and their age- and calendar-time-matched controls (N=88 979 and 15 356, respectively). Results The incidence of convictions was increased in men with KS (omitting traffic offenses) compared to controls with a HR of 1.40 (95% CI 1.23 to 1.59, p<0.001), with significant increases in sexual abuse, burglary, arson and ‘others’, but with a decreased risk of traffic and drug-related offenses. The incidence of convictions was significantly increased among men with 47,XYY compared to controls with a HR of 1.42 (95% CI 1.14 to 1.77, p<0.005) in all crime types, except drug-related crimes and traffic. Adjusting for socioeconomic variables (education, fatherhood, retirement and cohabitation) reduced the total HR for both KS and 47,XYY to levels similar to controls, while some specific crime types (sexual abuse, arson, etc) remained increased. Conclusion The overall risk of conviction (excluding traffic offenses) was moderately increased in men with 47,XYY or KS; however, it was similar to controls when adjusting for socioeconomic parameters. Convictions for sexual abuse, burglary, arson and ‘others’ were significantly increased. The increased risk of convictions may be partly or fully explained by the poor socioeconomic conditions related to the chromosome aberrations. PMID:22357573

  1. Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism

    PubMed Central

    Nagy, J; Kobolák, J; Berzsenyi, S; Ábrahám, Z; Avci, H X; Bock, I; Bekes, Z; Hodoscsek, B; Chandrasekaran, A; Téglási, A; Dezső, P; Koványi, B; Vörös, E T; Fodor, L; Szél, T; Németh, K; Balázs, A; Dinnyés, A; Lendvai, B; Lévay, G; Román, V

    2017-01-01

    The aim of the present study was to establish an in vitro Kleefstra syndrome (KS) disease model using the human induced pluripotent stem cell (hiPSC) technology. Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified. Patient specific hiPSCs generated from peripheral blood mononuclear cells of the KS-ASD patient were differentiated into post-mitotic cortical neurons. Lower levels of EHMT1 mRNA as well as protein expression were confirmed in these cells. Morphological analysis on neuronal cells differentiated from the KS-ASD patient-derived hiPSC clones showed significantly shorter neurites and reduced arborization compared to cells generated from healthy controls. Moreover, density of dendritic protrusions of neuronal cells derived from KS-ASD hiPSCs was lower than that of control cells. Synaptic connections and spontaneous neuronal activity measured by live cell calcium imaging could be detected after 5 weeks of differentiation, when KS-ASD cells exhibited higher sensitivity of calcium responses to acetylcholine stimulation indicating a lower nicotinic cholinergic tone at baseline condition in KS-ASD cells. In addition, gene expression profiling of differentiated neuronal cells from the KS-ASD patient revealed higher expression of proliferation-related genes and lower mRNA levels of genes involved in neuronal maturation and migration. Our data demonstrate anomalous neuronal morphology, functional activity and gene expression in KS-ASD patient-specific hiPSC-derived neuronal cultures, which offers an in vitro system that contributes to a better understanding of KS and potentially other neurodevelopmental disorders including ASD. PMID:28742076

  2. RadNet Air Data From Wichita, KS

    EPA Pesticide Factsheets

    This page presents radiation air monitoring and air filter analysis data for Wichita, KS from EPA's RadNet system. RadNet is a nationwide network of monitoring stations that measure radiation in air, drinking water and precipitation.

  3. Wernicke-Korsakoff-syndrome: under-recognized and under-treated.

    PubMed

    Isenberg-Grzeda, Elie; Kutner, Haley E; Nicolson, Stephen E

    2012-01-01

    Wernicke-Korsakoff syndrome (WKS) is a well described syndrome of neurological and cognitive problems that comprises both Wernicke's encephalopathy (WE) and Korsakoff syndrome (KS). WE is an acute neuropsychiatric disorder caused by thiamine deficiency. KS is a chronic consequence of thiamine deficiency with prominent impairment in memory formation. The authors review the literature on the pathophysiology, presentation, and treatment of WKS, focusing on the acute identification and treatment of WE. Most cases of WE are missed by clinicians, likely because patients do not present with the classic signs associated with the condition. Attaining high serum levels of thiamine during treatment may be important to restore cognitive function as quickly as possible, though the exact dosing and route needed for effective treatment is unknown. Data indicates that the administration of intravenous (IV) thiamine has little risk. In order to prevent this potentially devastating disease, physicians should have a high index of suspicion for WKS and dose thiamine accordingly. Copyright © 2012 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

  4. Source Memory in Korsakoff Syndrome: Disentangling the Mechanisms of Temporal Confusion.

    PubMed

    Brion, Mélanie; de Timary, Philippe; Pitel, Anne-Lise; Maurage, Pierre

    2017-03-01

    Korsakoff syndrome (KS), most frequently resulting from alcohol dependence (ALC), is characterized by severe anterograde amnesia. It has been suggested that these deficits may extend to other memory components, and notably source memory deficits involved in the disorientation and temporal confusion frequently observed in KS. However, the extent of this source memory impairment in KS and its usefulness for the differential diagnosis between ALC and KS remain unexplored. Nineteen patients with KS were compared with 19 alcohol-dependent individuals and 19 controls in a source memory test exploring temporal context confusions ("continuous recognition task"). Episodic memory and psychopathological comorbidities were controlled for. While no source memory deficit was observed in ALC, KS was associated with a significant presence of temporal context confusion, even when the influence of comorbidities was taken into account. This source memory impairment did not appear to be related to performances on episodic memory or executive functions. Patients with KS displayed source memory deficits, as indexed by temporal context confusions. The absence of a relationship with episodic memory performances seems to indicate that source memory impairment is not a mere by-product of amnesia. As ALC was associated with preserved source memory, the presence of temporal context confusion may serve as a complementary tool for the differential diagnosis between ALC and KS. Copyright © 2017 by the Research Society on Alcoholism.

  5. Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

    PubMed Central

    Mullegama, Sureni V.; Alaimo, Joseph T.; Chen, Li; Elsea, Sarah H.

    2015-01-01

    Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is a recently identified genetic neurodevelopmental disorder associated with ASD. Mutations in MBD5 have been found in ASD cohorts. In this study, we provide a phenotypic update on the prevalent features of 2q23.1 deletion syndrome, which include severe intellectual disability, seizures, significant speech impairment, sleep disturbance, and autistic-like behavioral problems. Next, we examined the phenotypic, molecular, and network/pathway relationships between nine neurodevelopmental disorders associated with ASD: 2q23.1 deletion Rett, Angelman, Pitt-Hopkins, 2q23.1 duplication, 5q14.3 deletion, Kleefstra, Kabuki make-up, and Smith-Magenis syndromes. We show phenotypic overlaps consisting of intellectual disability, speech delay, seizures, sleep disturbance, hypotonia, and autistic-like behaviors. Molecularly, MBD5 possibly regulates the expression of UBE3A, TCF4, MEF2C, EHMT1 and RAI1. Network analysis reveals that there could be indirect protein interactions, further implicating function for these genes in common pathways. Further, we show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. These findings support further investigations into the molecular and pathway relationships among genes linked to neurodevelopmental disorders and ASD, which will hopefully lead to common points of regulation that may be targeted toward therapeutic intervention. PMID:25853262

  6. 76 FR 21827 - Proposed Amendment of Class E Airspace; El Dorado, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-19

    ...-directional beacon (NDB) at Captain Jack Thomas/El Dorado Airport, El Dorado, KS, has made this action necessary for the safety and management of Instrument Flight Rules (IFR) operations at Captain Jack Thomas... instrument approach procedures at Captain Jack Thomas/El Dorado Airport, El Dorado, KS. Airspace...

  7. Hepatic Kaposi Sarcoma Revisited: An Important but Less Commonly Seen Neoplasm in Patients With Acquired Immunodeficiency Syndrome.

    PubMed

    Chen, Frank; Gulati, Mittul; Tchelepi, Hisham

    2017-03-01

    Hepatic Kaposi sarcoma (KS) is the most commonly seen hepatic neoplasm in patients with acquired immunodeficiency syndrome (AIDS), found in 34% of patients in an autopsy series. However, the incidence of hepatic KS has significantly declined since the advent of highly active antiretroviral therapy and is not as commonly seen on imaging. We present a case of hepatic KS in a patient with AIDS, which was initially mistaken for hepatic abscesses on computed tomography. We discuss the computed tomography, grayscale ultrasound, and contrast-enhanced ultrasound appearance of hepatic KS and how to distinguish this hepatic neoplasm from other common hepatic lesions seen in patients with AIDS.

  8. A note on the accuracy of KS-DFT densities

    NASA Astrophysics Data System (ADS)

    Ranasinghe, Duminda S.; Perera, Ajith; Bartlett, Rodney J.

    2017-11-01

    The accuracy of the density of wave function methods and Kohn-Sham (KS) density functionals is studied using moments of the density, ⟨rn ⟩ =∫ ρ (r )rnd τ =∫0∞4 π r2ρ (r ) rnd r ,where n =-1 ,-2,0,1,2 ,and 3 provides information about the short- and long-range behavior of the density. Coupled cluster (CC) singles, doubles, and perturbative triples (CCSD(T)) is considered as the reference density. Three test sets are considered: boron through neon neutral atoms, two and four electron cations, and 3d transition metals. The total density and valence only density are distinguished by dropping appropriate core orbitals. Among density functionals tested, CAMQTP00 and ωB97x show the least deviation for boron through neon neutral atoms. They also show accurate eigenvalues for the HOMO indicating that they should have a more correct long-range behavior for the density. For transition metals, some density functional approximations outperform some wave function methods, suggesting that the KS determinant could be a better starting point for some kinds of correlated calculations. By using generalized many-body perturbation theory (MBPT), the convergence of second-, third-, and fourth-order KS-MBPT for the density is addressed as it converges to the infinite-order coupled cluster result. For the transition metal test set, the deviations in the KS density functional theory methods depend on the amount of exact exchange the functional uses. Functionals with exact exchange close to 25% show smaller deviations from the CCSD(T) density.

  9. "Autograph" in the KS3 Classroom

    ERIC Educational Resources Information Center

    Catley, Alan

    2006-01-01

    In this article, the author shows some simple examples of ways in which "Autograph" can enhance learning in the KS3 curriculum. He began using version 2 with A-level students to help them visualise concepts in pure mathematics. He has "Autograph" projected to the front board to keep learners focused on mathematical activity…

  10. Search for lepton flavor violating τ decays with a KS0 meson

    NASA Astrophysics Data System (ADS)

    Belle Collaboration; Miyazaki, Y.; Abe, K.; Abe, K.; Aihara, H.; Anipko, D.; Arinstein, K.; Aulchenko, V.; Aushev, T.; Bakich, A. M.; Barbero, M.; Bedny, I.; Belous, K.; Bitenc, U.; Bizjak, I.; Blyth, S.; Bondar, A.; Bozek, A.; Bračko, M.; Browder, T. E.; Chen, A.; Chen, W. T.; Chistov, R.; Choi, Y.; Choi, Y. K.; Chuvikov, A.; Cole, S.; Dalseno, J.; Danilov, M.; Dash, M.; Dragic, J.; Eidelman, S.; Epifanov, D.; Gabyshev, N.; Gershon, T.; Gorišek, A.; Ha, H.; Hayasaka, K.; Hayashii, H.; Hazumi, M.; Heffernan, D.; Hokuue, T.; Hoshi, Y.; Hou, S.; Iijima, T.; Imoto, A.; Inami, K.; Ishikawa, A.; Itoh, R.; Iwasaki, M.; Iwasaki, Y.; Kang, J. H.; Kapusta, P.; Kawai, H.; Khan, H. R.; Kichimi, H.; Kim, H. O.; Korpar, S.; Krokovny, P.; Kumar, R.; Kuo, C. C.; Kuzmin, A.; Kwon, Y.-J.; Lee, J.; Lesiak, T.; Lin, S.-W.; Mandl, F.; Matsumoto, T.; McOnie, S.; Mitaroff, W.; Miyake, H.; Miyata, H.; Nakano, E.; Nakao, M.; Nishida, S.; Nitoh, O.; Noguchi, S.; Ogawa, S.; Ohshima, T.; Okabe, T.; Okuno, S.; Onuki, Y.; Ozaki, H.; Palka, H.; Park, H.; Peak, L. S.; Pestotnik, R.; Piilonen, L. E.; Poluektov, A.; Sakai, Y.; Schietinger, T.; Schneider, O.; Seidl, R.; Senyo, K.; Sevior, M. E.; Shapkin, M.; Shibuya, H.; Shwartz, B.; Sidorov, V.; Singh, J. B.; Somov, A.; Soni, N.; Stanič, S.; Starič, M.; Stoeck, H.; Sumisawa, K.; Sumiyoshi, T.; Takasaki, F.; Tamura, N.; Tanaka, M.; Taylor, G. N.; Teramoto, Y.; Tian, X. C.; Tsukamoto, T.; Uehara, S.; Ueno, K.; Uglov, T.; Uno, S.; Urquijo, P.; Usov, Y.; Varner, G.; Villa, S.; Wang, C. C.; Wang, C. H.; Watanabe, Y.; Won, E.; Yamaguchi, A.; Yamashita, Y.; Yamauchi, M.; Zhang, L. M.; Zhilich, V.

    2006-08-01

    We have searched for the lepton flavor violating decays τ→ℓKS0 (ℓ=e or μ), using a data sample of 281 fb-1 collected with the Belle detector at the KEKB ee asymmetric-energy collider. No evidence for a signal was found in either of the decay modes, and we set the following upper limits for the branching fractions: B(τ→eKS0)<5.6×10 and B(τ→μKS0)<4.9×10 at the 90% confidence level. These results improve the previously published limits set by the CLEO Collaboration by factors of 16 and 19, respectively.

  11. The identification of HESX1 mutations in Kallmann syndrome

    PubMed Central

    Newbern, Kayce; Natrajan, Nithya; Kim, Hyung-Goo; Chorich, Lynn .P.; Halvorson, Lisa; Cameron, Richard S.; Layman, Lawrence C.

    2013-01-01

    Objective To determine if HESX1 mutations are present in patients with idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). HESX1 mutations have previously been characterized in patients with septo-optic dysplasia (SOD), isolated growth hormone deficiency (IGHD), and combined pituitary hormone deficiency (CPHD). We hypothesized that IHH/KS represents a milder phenotypic variant of SOD. Design PCR-based DNA sequencing was performed on 217 well-characterized IHH/KS patients. Putative missense mutations were analyzed by sorting intolerant from tolerant (SIFT) and Clustal Ω. Setting An academic medical center Patients 217 IHH/KS and 192 controls Interventions DNA was extracted from patients and controls; genotype/phenotype comparisons were made Main Outcome Measures DNA sequence of HESX1, SIFT analysis, and ortholog alignment Results Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3/217 (1.4%) patients. All were males with KS. Both p.Q6H and p.H42Y were predicted to be deleterious by SIFT, while p.V75L was conserved in 8/9 species. No other IHH/KS gene mutations were present. Conclusions HESX1 mutations may cause KS in addition to more severe phenotypes. Our findings expand the phenotypic spectrum of HESX1 mutations in humans, thereby broadening its role in development. PMID:23465708

  12. Kidney-specific WNK1 isoform (KS-WNK1) is a potent activator of WNK4 and NCC.

    PubMed

    Argaiz, Eduardo R; Chavez-Canales, Maria; Ostrosky-Frid, Mauricio; Rodriguez-Gama, Alejandro; Vázquez, Norma; Gonzalez-Rodriguez, Xochiquetzal; Garcia-Valdés, Jesus; Hadchouel, Juliette; Ellison, David H; Gamba, Gerardo

    2018-05-30

    Familial Hyperkalemic Hypertension (FHHt) can be mainly attributed to increased activity of the renal Na+:Cl- cotransporter (NCC), which is caused by altered expression and regulation of the WNK1 and WNK4 kinases. The WNK1 gene gives rise to a kidney-specific isoform that lacks the kinase domain (KS-WNK1), the expression of which occurs primarily in the distal convoluted tubule. The role played by KS-WNK1 in the modulation of the WNK/SPAK/NCC pathway remains elusive. In the present study, we assessed the effect of human KS-WNK1 on NCC activity and on the WNK4-SPAK pathway. Microinjection of oocytes with human KS-WNK1 cRNA induces remarkable activation and phosphorylation of SPAK and NCC. The effect of KS-WNK1 was abrogated by eliminating a WNK-WNK interacting domain and by a specific WNK inhibitor, WNK463, indicating that the activation of SPAK/NCC by KS-WNK1 is due to interaction with another WNK kinase. Under control conditions in oocytes, the activating serine 335 of the WNK4 T loop is not phosphorylated. In contrast, this serine becomes phosphorylated when the intracellular chloride concentration ([Cl-]i) is reduced or when KS-WNK1 is co-expressed with WNK4. KS-WNK1-mediated activation of WNK4 is not due to a decrease of the [Cl-]i. Coimmunoprecipitation analysis revealed that KS-WNK1 and WNK4 interact with each other and that WNK4 becomes autophosphorylated at serine 335 when it is associated with KS-WNK1. Together, these observations suggest that WNK4 becomes active in the presence of KS-WNK1, despite a constant [Cl-]i.

  13. Search for the rare decay KS^0to {μ+}{μ-}

    NASA Astrophysics Data System (ADS)

    Aaij, R.; Abellan Beteta, C.; Adametz, A.; Adeva, B.; Adinolfi, M.; Adrover, C.; Affolder, A.; Ajaltouni, Z.; Albrecht, J.; Alessio, F.; Alexander, M.; Ali, S.; Alkhazov, G.; Alvarez Cartelle, P.; Alves, A. A.; Amato, S.; Amhis, Y.; Anderlini, L.; Anderson, J.; Appleby, R. B.; Aquines Gutierrez, O.; Archilli, F.; Artamonov, A.; Artuso, M.; Aslanides, E.; Auriemma, G.; Bachmann, S.; Back, J. J.; Baesso, C.; Baldini, W.; Barlow, R. J.; Barschel, C.; Barsuk, S.; Barter, W.; Bates, A.; Bauer, Th.; Bay, A.; Beddow, J.; Bediaga, I.; Belogurov, S.; Belous, K.; Belyaev, I.; Ben-Haim, E.; Benayoun, M.; Bencivenni, G.; Benson, S.; Benton, J.; Berezhnoy, A.; Bernet, R.; Bettler, M.-O.; van Beuzekom, M.; Bien, A.; Bifani, S.; Bird, T.; Bizzeti, A.; Bjørnstad, P. M.; Blake, T.; Blanc, F.; Blanks, C.; Blouw, J.; Blusk, S.; Bobrov, A.; Bocci, V.; Bondar, A.; Bondar, N.; Bonivento, W.; Borghi, S.; Borgia, A.; Bowcock, T. J. V.; Bozzi, C.; Brambach, T.; van den Brand, J.; Bressieux, J.; Brett, D.; Britsch, M.; Britton, T.; Brook, N. H.; Brown, H.; Büchler-Germann, A.; Burducea, I.; Bursche, A.; Buytaert, J.; Cadeddu, S.; Callot, O.; Calvi, M.; Calvo Gomez, M.; Camboni, A.; Campana, P.; Carbone, A.; Carboni, G.; Cardinale, R.; Cardini, A.; Carson, L.; Carvalho Akiba, K.; Casse, G.; Cattaneo, M.; Cauet, Ch.; Charles, M.; Charpentier, Ph.; Chen, P.; Chiapolini, N.; Chrzaszcz, M.; Ciba, K.; Vidal, X. Cid; Ciezarek, G.; Clarke, P. E. L.; Clemencic, M.; Cliff, H. V.; Closier, J.; Coca, C.; Coco, V.; Cogan, J.; Cogneras, E.; Collins, P.; Comerma-Montells, A.; Contu, A.; Cook, A.; Coombes, M.; Corti, G.; Couturier, B.; Cowan, G. A.; Craik, D.; Cunliffe, S.; Currie, R.; D'Ambrosio, C.; David, P.; David, P. N. Y.; De Bonis, I.; De Bruyn, K.; De Capua, S.; De Cian, M.; De Miranda, J. M.; De Paula, L.; De Simone, P.; Decamp, D.; Deckenhoff, M.; Degaudenzi, H.; Del Buono, L.; Deplano, C.; Derkach, D.; Deschamps, O.; Dettori, F.; Di Canto, A.; Dickens, J.; Dijkstra, H.; Diniz Batista, P.; Domingo Bonal, F.; Donleavy, S.; Dordei, F.; Suárez, A. Dosil; Dossett, D.; Dovbnya, A.; Dupertuis, F.; Dzhelyadin, R.; Dziurda, A.; Dzyuba, A.; Easo, S.; Egede, U.; Egorychev, V.; Eidelman, S.; van Eijk, D.; Eisenhardt, S.; Ekelhof, R.; Eklund, L.; El Rifai, I.; Elsasser, Ch.; Elsby, D.; Esperante Pereira, D.; Falabella, A.; Färber, C.; Fardell, G.; Farinelli, C.; Farry, S.; Fave, V.; Fernandez Albor, V.; Ferreira Rodrigues, F.; Ferro-Luzzi, M.; Filippov, S.; Fitzpatrick, C.; Fontana, M.; Fontanelli, F.; Forty, R.; Francisco, O.; Frank, M.; Frei, C.; Frosini, M.; Furcas, S.; Gallas Torreira, A.; Galli, D.; Gandelman, M.; Gandini, P.; Gao, Y.; Garnier, J.-C.; Garofoli, J.; GarraTico, J.; Garrido, L.; Gaspar, C.; Gauld, R.; Gersabeck, E.; Gersabeck, M.; Gershon, T.; Ghez, Ph.; Gibson, V.; Gligorov, V. V.; Göbel, C.; Golubkov, D.; Golutvin, A.; Gomes, A.; Gordon, H.; Grabalosa Gándara, M.; Graciani Diaz, R.; Granado Cardoso, L. A.; Graugés, E.; Graziani, G.; Grecu, A.; Greening, E.; Gregson, S.; Grünberg, O.; Gui, B.; Gushchin, E.; Guz, Yu.; Gys, T.; Hadjivasiliou, C.; Haefeli, G.; Haen, C.; Haines, S. C.; Hall, S.; Hampson, T.; Hansmann-Menzemer, S.; Harnew, N.; Harnew, S. T.; Harrison, J.; Harrison, P. F.; Hartmann, T.; He, J.; Heijne, V.; Hennessy, K.; Henrard, P.; Hernando Morata, J. A.; van Herwijnen, E.; Hicks, E.; Hill, D.; Hoballah, M.; Hopchev, P.; Hulsbergen, W.; Hunt, P.; Huse, T.; Hussain, N.; Huston, R. S.; Hutchcroft, D.; Hynds, D.; Iakovenko, V.; Ilten, P.; Imong, J.; Jacobsson, R.; Jaeger, A.; Jahjah Hussein, M.; Jans, E.; Jansen, F.; Jaton, P.; Jean-Marie, B.; Jing, F.; John, M.; Johnson, D.; Jones, C. R.; Jost, B.; Kaballo, M.; Kandybei, S.; Karacson, M.; Karbach, T. M.; Keaveney, J.; Kenyon, I. R.; Kerzel, U.; Ketel, T.; Keune, A.; Khanji, B.; Kim, Y. M.; Kochebina, O.; Komarov, V.; Koopman, R. F.; Koppenburg, P.; Korolev, M.; Kozlinskiy, A.; Kravchuk, L.; Kreplin, K.; Kreps, M.; Krocker, G.; Krokovny, P.; Kruse, F.; Kucharczyk, M.; Kudryavtsev, V.; Kvaratskheliya, T.; La Thi, V. N.; Lacarrere, D.; Lafferty, G.; Lai, A.; Lambert, D.; Lambert, R. W.; Lanciotti, E.; Lanfranchi, G.; Langenbruch, C.; Latham, T.; Lazzeroni, C.; Le Gac, R.; van Leerdam, J.; Lees, J.-P.; Lefèvre, R.; Leflat, A.; Lefrançois, J.; Leroy, O.; Lesiak, T.; Li, Y.; Li Gioi, L.; Liles, M.; Lindner, R.; Linn, C.; Liu, B.; Liu, G.; von Loeben, J.; Lopes, J. H.; Lopez Asamar, E.; Lopez-March, N.; Lu, H.; Luisier, J.; Mac Raighne, A.; Machefert, F.; Machikhiliyan, I. V.; Maciuc, F.; Maev, O.; Magnin, J.; Maino, M.; Malde, S.; Manca, G.; Mancinelli, G.; Mangiafave, N.; Marconi, U.; Märki, R.; Marks, J.; Martellotti, G.; Martens, A.; Martin, L.; Martín Sánchez, A.; Martinelli, M.; Santos, D. Martinez; Massafferri, A.; Mathe, Z.; Matteuzzi, C.; Matveev, M.; Maurice, E.; Mazurov, A.; McCarthy, J.; McGregor, G.; McNulty, R.; Meissner, M.; Merk, M.; Merkel, J.; Milanes, D. A.; Minard, M.-N.; Molina Rodriguez, J.; Monteil, S.; Moran, D.; Morawski, P.; Mountain, R.; Mous, I.; Muheim, F.; Müller, K.; Muresan, R.; Muryn, B.; Muster, B.; Mylroie-Smith, J.; Naik, P.; Nakada, T.; Nandakumar, R.; Nasteva, I.; Needham, M.; Neufeld, N.; Nguyen, A. D.; Nguyen-Mau, C.; Nicol, M.; Niess, V.; Nikitin, N.; Nikodem, T.; Nomerotski, A.; Novoselov, A.; Oblakowska-Mucha, A.; Obraztsov, V.; Oggero, S.; Ogilvy, S.; Okhrimenko, O.; Oldeman, R.; Orlandea, M.; Otalora Goicochea, J. M.; Owen, P.; Pal, B. K.; Palano, A.; Palutan, M.; Panman, J.; Papanestis, A.; Pappagallo, M.; Parkes, C.; Parkinson, C. J.; Passaleva, G.; Patel, G. D.; Patel, M.; Patrick, G. N.; Patrignani, C.; Pavel-Nicorescu, C.; Pazos Alvarez, A.; Pellegrino, A.; Penso, G.; Pepe Altarelli, M.; Perazzini, S.; Perego, D. L.; Perez Trigo, E.; Pérez-Calero Yzquierdo, A.; Perret, P.; Perrin-Terrin, M.; Pessina, G.; Petridis, K.; Petrolini, A.; Phan, A.; Picatoste Olloqui, E.; Pie Valls, B.; Pietrzyk, B.; Pilař, T.; Pinci, D.; Playfer, S.; Plo Casasus, M.; Polci, F.; Polok, G.; Poluektov, A.; Polycarpo, E.; Popov, D.; Popovici, B.; Potterat, C.; Powell, A.; Prisciandaro, J.; Pugatch, V.; Puig Navarro, A.; Qian, W.; Rademacker, J. H.; Rakotomiaramanana, B.; Rangel, M. S.; Raniuk, I.; Rauschmayr, N.; Raven, G.; Redford, S.; Reid, M. M.; dos Reis, A. C.; Ricciardi, S.; Richards, A.; Rinnert, K.; Rives Molina, V.; Roa Romero, D. A.; Robbe, P.; Rodrigues, E.; Rodriguez Perez, P.; Rogers, G. J.; Roiser, S.; Romanovsky, V.; Romero Vidal, A.; Rouvinet, J.; Ruf, T.; Ruiz, H.; Sabatino, G.; Saborido Silva, J. J.; Sagidova, N.; Sail, P.; Saitta, B.; Salzmann, C.; Sanmartin Sedes, B.; Sannino, M.; Santacesaria, R.; Santamarina Rios, C.; Santinelli, R.; Santovetti, E.; Sapunov, M.; Sarti, A.; Satriano, C.; Satta, A.; Savrie, M.; Schaack, P.; Schiller, M.; Schindler, H.; Schleich, S.; Schlupp, M.; Schmelling, M.; Schmidt, B.; Schneider, O.; Schopper, A.; Schune, M.-H.; Schwemmer, R.; Sciascia, B.; Sciubba, A.; Seco, M.; Semennikov, A.; Senderowska, K.; Sepp, I.; Serra, N.; Serrano, J.; Seyfert, P.; Shapkin, M.; Shapoval, I.; Shatalov, P.; Shcheglov, Y.; Shears, T.; Shekhtman, L.; Shevchenko, O.; Shevchenko, V.; Shires, A.; Silva Coutinho, R.; Skwarnicki, T.; Smith, N. A.; Smith, E.; Smith, M.; Sobczak, K.; Soler, F. J. P.; Solomin, A.; Soomro, F.; Souza, D.; Souza De Paula, B.; Spaan, B.; Sparkes, A.; Spradlin, P.; Stagni, F.; Stahl, S.; Steinkamp, O.; Stoica, S.; Stone, S.; Storaci, B.; Straticiuc, M.; Straumann, U.; Subbiah, V. K.; Swientek, S.; Szczekowski, M.; Szczypka, P.; Szumlak, T.; T'Jampens, S.; Teklishyn, M.; Teodorescu, E.; Teubert, F.; Thomas, C.; Thomas, E.; van Tilburg, J.; Tisserand, V.; Tobin, M.; Tolk, S.; Topp-Joergensen, S.; Torr, N.; Tournefier, E.; Tourneur, S.; Tran, M. T.; Tsaregorodtsev, A.; Tuning, N.; Ubeda Garcia, M.; Ukleja, A.; Urner, D.; Uwer, U.; Vagnoni, V.; Valenti, G.; Vazquez Gomez, R.; Vazquez Regueiro, P.; Vecchi, S.; Velthuis, J. J.; Veltri, M.; Veneziano, G.; Vesterinen, M.; Viaud, B.; Videau, I.; Vieira, D.; Vilasis-Cardona, X.; Visniakov, J.; Vollhardt, A.; Volyanskyy, D.; Voong, D.; Vorobyev, A.; Vorobyev, V.; Voss, H.; Voß, C.; Waldi, R.; Wallace, R.; Wandernoth, S.; Wang, J.; Ward, D. R.; Watson, N. K.; Webber, A. D.; Websdale, D.; Whitehead, M.; Wicht, J.; Wiedner, D.; Wiggers, L.; Wilkinson, G.; Williams, M. P.; Williams, M.; Wilson, F. F.; Wishahi, J.; Witek, M.; Witzeling, W.; Wotton, S. A.; Wright, S.; Wu, S.; Wyllie, K.; Xie, Y.; Xing, F.; Xing, Z.; Yang, Z.; Young, R.; Yuan, X.; Yushchenko, O.; Zangoli, M.; Zavertyaev, M.; Zhang, F.; Zhang, L.; Zhang, W. C.; Zhang, Y.; Zhelezov, A.; Zhong, L.; Zvyagin, A.

    2013-01-01

    A search for the decay KS^0to {μ+}{μ-} is performed, based on a data sample of 1.0 fb-1 of pp collisions at sqrt{s}=7TeV collected by the LHCb experiment at the Large Hadron Collider. The observed number of candidates is consistent with the background-only hypothesis, yielding an upper limit of {B}( {KS^0to {μ+}{μ-}} ) < 11(9) × 10-9 at 95 (90)% confidence level. This limit is a factor of thirty below the previous measurement.

  14. 75 FR 39588 - Kansas Disaster #KS-00044

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-09

    ... SMALL BUSINESS ADMINISTRATION [Disaster Declaration 12218 and 12219] Kansas Disaster KS-00044 AGENCY: U.S. Small Business Administration. ACTION: Notice. SUMMARY: This is a notice of an Administrative declaration of a disaster for the State of Kansas dated 07/02/2010. Incident: Flash flooding...

  15. 78 FR 26679 - Kansas Disaster #KS-00073

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-07

    ... SMALL BUSINESS ADMINISTRATION [Disaster Declaration 13557 and 13558] Kansas Disaster KS-00073 AGENCY: U.S. Small Business Administration. ACTION: Notice. SUMMARY: This is a Notice of the Presidential... INFORMATION CONTACT: A. Escobar, Office of Disaster Assistance, U.S. Small Business Administration, 409 3rd...

  16. 76 FR 33394 - Kansas Disaster # KS-00052

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-08

    ... SMALL BUSINESS ADMINISTRATION [Disaster Declaration 12607 and 12608] Kansas Disaster KS-00052 AGENCY: U.S. Small Business Administration. ACTION: Notice. SUMMARY: This is a notice of an Administrative declaration of a disaster for the State of Kansas dated 05/27/2011. Incident: Reading Tornadoes...

  17. Do KS/BE Preschools Help Hawaiian Children Succeed in the Public Schools?

    ERIC Educational Resources Information Center

    Heath, Robert W.; Plett, Jerald D.

    Presented are results of the tracking of the 1985-86 cohort of preschool alumni of the Kamehameha Schools/Bishop Estate (KS/BE) as they entered and completed kindergarten in the 1986-87 school year. During the 1985-86 program year, 100 preschoolers were enrolled in the KS/BE Pre-kindergarten Education Program at five sites. An additional group of…

  18. Gorlin syndrome with bilateral polydactyly: a rare case report.

    PubMed

    Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas

    2013-09-01

    Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212.

  19. Induction of senescence pathways in Kindler syndrome primary keratinocytes.

    PubMed

    Piccinni, E; Di Zenzo, G; Maurelli, R; Dellambra, E; Teson, M; Has, C; Zambruno, G; Castiglia, D

    2013-05-01

    Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene that encodes the focal adhesion component kindlin-1. The major clinical manifestation of KS is epidermal atrophy (premature skin ageing). This phenotypic feature is thought to be related to the decreased proliferation rate of KS keratinocytes; nevertheless, molecular mediators of such abnormal behaviour have not been fully elucidated. To investigate how kindlin-1 deficiency affects the proliferative potential of primary human keratinocytes. We serially cultivated nine primary KS keratinocyte strains until senescence and determined their lifespan and colony-forming efficiency (CFE) at each serial passage. The expression of molecular markers of stemness and cellular senescence were investigated by immunoblotting using cell extracts of primary keratinocyte cultures from patients with KS and healthy donors. In another set of experiments, kindlin-1 downregulation in normal keratinocytes was obtained by small interfering RNA (siRNA) technology. We found that KS keratinocytes exhibited a precocious senescence and strongly reduced clonogenic potential. Moreover, KS cultures showed a strikingly increased percentage of aborted colonies (paraclones) already at early passages indicating an early depletion of stem cells. Immunoblotting analysis of KS keratinocyte extracts showed reduced levels of the stemness markers p63 and Bmi-1, upregulation of p16 and scant amounts of hypophosphorylated Rb protein, which indicated cell cycle-arrested status. Treatment of normal human primary keratinocytes with siRNA targeting kindlin-1 proved that its deficiency was directly responsible for p63, Bmi-1 and pRb downregulation and p16 induction. Our data directly implicate kindlin-1 in preventing premature senescence of keratinocytes. © 2013 The Authors. BJD © 2013 British Association of Dermatologists.

  20. The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome.

    PubMed

    Skakkebæk, Anne; Moore, Philip J; Pedersen, Anders Degn; Bojesen, Anders; Kristensen, Maria Krarup; Fedder, Jens; Laurberg, Peter; Hertz, Jens Michael; Østergaard, John Rosendahl; Wallentin, Mikkel; Gravholt, Claus Højbjerg

    2017-03-01

    The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education. Sixty-nine patients with KS and 69 controls were assessed in terms of IQ, NEO personality inventory, the Autism Spectrum Quotient (AQ) scale, and measures of cognitive performance reflecting working memory and executive function. Patients with KS performed more poorly on memory and executive-function tasks. Patients with KS also exhibited greater neuroticism and less extraversion, openness, and conscientiousness than controls. Memory deficits among patients with KS were associated with lower intelligence, while diminished executive functioning was mediated by both lower intelligence and less social engagement. Our results suggest that among patients with KS, memory deficits are principally a function of lower general intelligence, while executive-function deficits are associated with both lower intelligence and poorer social skills. This suggests a potential influence of social engagement on executive cognitive functioning (and/or vice-versa) among individuals with KS, and perhaps those with other genetic disorders. Future longitudinal research would be important to further clarify this and other issues discussed in this research.

  1. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    PubMed Central

    Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

    2013-01-01

    ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

  2. Kindler syndrome: a new mutation and new diagnostic possibilities.

    PubMed

    Burch, Joanna M; Fassihi, Hiva; Jones, Catherine A; Mengshol, Sarah C; Fitzpatrick, James E; McGrath, John A

    2006-05-01

    Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes. We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who developed poikiloderma and skin fragility at 6 years of age. His skin showed diminished staining with anti-kindlin-1 antibody, and genetic analysis revealed that he was a compound heterozygote with a previously unreported mutation in KIND1. Ultrastructural clues to the diagnosis of KS were present in a biopsy specimen that was obtained when the patient was 10 months old, before he developed poikiloderma and photosensitivity. In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. Ultrastructural findings characteristic of KS were evident years before the onset of poikiloderma and sun sensitivity. In infancy, electron microscopy can enable early, accurate diagnosis of KS.

  3. A Ks-band-selected catalogue of objects in the ALHAMBRA survey

    NASA Astrophysics Data System (ADS)

    Nieves-Seoane, L.; Fernandez-Soto, A.; Arnalte-Mur, P.; Molino, A.; Stefanon, M.; Ferreras, I.; Ascaso, B.; Ballesteros, F. J.; Cristóbal-Hornillos, D.; López-Sanjuán, C.; Hurtado-Gil, Ll.; Márquez, I.; Masegosa, J.; Aguerri, J. A. L.; Alfaro, E.; Aparicio-Villegas, T.; Benítez, N.; Broadhurst, T.; Cabrera-Caño, J.; Castander, F. J.; Cepa, J.; Cerviño, M.; González Delgado, R. M.; Husillos, C.; Infante, L.; Martínez, V. J.; Moles, M.; Olmo, A. del; Perea, J.; Pović, M.; Prada, F.; Quintana, J. M.; Troncoso-Iribarren, P.; Viironen, K.

    2017-02-01

    The original ALHAMBRA catalogue contained over 400 000 galaxies selected using a synthetic F814W image, to the magnitude limit AB(F814W) ≈ 24.5. Given the photometric redshift depth of the ALHAMBRA multiband data ( = 0.86) and the approximately I-band selection, there is a noticeable bias against red objects at moderate redshift. We avoid this bias by creating a new catalogue selected in the Ks band. This newly obtained catalogue is certainly shallower in terms of apparent magnitude, but deeper in terms of redshift, with a significant population of red objects at z > 1. We select objects using the Ks band images, which reach an approximate AB magnitude limit Ks ≈ 22. We generate masks and derive completeness functions to characterize the sample. We have tested the quality of the photometry and photometric redshifts using both internal and external checks. Our final catalogue includes ≈95 000 sources down to Ks ≈ 22, with a significant tail towards high redshift. We have checked that there is a large sample of objects with spectral energy distributions that correspond to that of massive, passively evolving galaxies at z > 1, reaching as far as z ≈ 2.5. We have tested the possibility of combining our data with deep infrared observations at longer wavelengths, particularly Spitzer IRAC data.

  4. RadNet Air Data From Kansas City, KS

    EPA Pesticide Factsheets

    This page presents radiation air monitoring and air filter analysis data for Kansas City, KS from EPA's RadNet system. RadNet is a nationwide network of monitoring stations that measure radiation in air, drinking water and precipitation.

  5. RadNet Air Data From Dodge City, KS

    EPA Pesticide Factsheets

    This page presents radiation air monitoring and air filter analysis data for Dodge City, KS from EPA's RadNet system. RadNet is a nationwide network of monitoring stations that measure radiation in air, drinking water and precipitation.

  6. Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome: A Review of the Literature and Preliminary Results from a Functional Magnetic Resonance Imaging Study of Language

    ERIC Educational Resources Information Center

    Steinman, Kyle; Ross, Judith; Lai, Song; Reiss, Allan; Hoeft, Fumiko

    2009-01-01

    Klinefelter (47,XXY) syndrome (KS), the most common form of sex-chromosomal aneuploidy, is characterized by physical, endocrinologic, and reproductive abnormalities. Individuals with KS also exhibit a cognitive/behavioral phenotype characterized by language and language-based learning disabilities and executive and attentional dysfunction in the…

  7. Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.

    PubMed

    Has, C; Burger, B; Volz, A; Kohlhase, J; Bruckner-Tuderman, L; Itin, P

    2010-01-01

    Kindler syndrome (KS) is a heritable skin disorder with a complex phenotype consisting of congenital skin blistering, photosensitivity, progressive generalized poikiloderma and extensive skin atrophy. Here we describe 2 siblings with KS, who are, to the best of our knowledge, the oldest patients reported so far in the literature. The diagnosis was established in their seventh and eighth decades of life, and confirmed by mutation analysis. Both patients were homozygous for the recurrent FERMT1 mutation, c.328C→T, p.R110X. Because of a relatively mild course of the disease, mucosal membranes in the eyes and oesophagus being predominantly affected in recent years, they had been treated under other diagnoses, such as scleroderma. Cutaneous precancerous lesions and epithelial skin cancer arose in both siblings after the age of 50 years and were treated in an early stage. Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma. Copyright © 2010 S. Karger AG, Basel.

  8. Breast cancer in a patient with Kindlers syndrome.

    PubMed

    Mehdi, Itrat; Al Bahrani, Bassim Jaffar; Al Lawati, Taha Mohsin; Mandhari, Zahid Al; Al Lawati, Fatima Ramadhan

    2017-08-01

    Breast Cancer (BC) has associated risk factors and genetic factors like BRCA1, and BRCA2. Many benign and malignant disease processes are found concurrently with BC and believed to be additional risk factors like gall bladder stones (cholelithiasis), hypertension, diabetes mellitus, cerebrovascular lesions, arthritis, spine and spinal cord degenerative lesions, infertility, depression, sleep disturbances, obesity, autoimmune diseases (SLE), and thyroid diseases. There are some malignant disease associations like synchronous or metachronous ovarian, colonic and endometrial tumours with Breast cancer. Kindler Syndrome (KS) is a rare autosomal recessive genetic disorder manifesting as generalized dermatoses, described in 1954 by Theresa Kindler. KS is associated with acral skin blistering inducible by trauma, mucosal inflammation, photosensitivity, progressive pigmentation, telangiectasia, and skin atrophy (Poikiloderma). Repeated and progressive inflammation and subsequent fibrosis leads to ectropion, esophageal, anal, urethral, and vaginal stenosis and dryness. About 100 cases of Kindler syndrome have been reported in literature so far some from Arab World as well. Pathobiology of Kindler syndrome is not well understood. There are defects in KIND1 gene on chromosome 20. This gene expresses itself in basal keratinocytes, where it encodes a protein, called Kindlin 1. We report the second only case of Kindler's syndrome having breast cancer. These very very rare combinations have diagnostic issues, management restrictions, prognostic and follow up implications.

  9. Sniffin' Sticks and olfactory system imaging in patients with Kallmann syndrome.

    PubMed

    Ottaviano, Giancarlo; Cantone, Elena; D'Errico, Arianna; Salvalaggio, Alessandro; Citton, Valentina; Scarpa, Bruno; Favaro, Angela; Sinisi, Antonio Agostino; Liuzzi, Raffaele; Bonanni, Guglielmo; Di Salle, Francesco; Elefante, Andrea; Manara, Renzo; Staffieri, Alberto; Martini, Alessandro; Brunetti, Arturo

    2015-09-01

    The relationship between olfactory function, rhinencephalon and forebrain changes in Kallmann syndrome (KS) have not been adequately investigated. We evaluated a large cohort of male KS patients using Sniffin' Sticks and MRI in order to study olfactory bulb (OB) volume, olfactory sulcus (OS) depth, cortical thickness close to the OS, and olfactory phenotype. Olfaction was assessed administering Sniffin' Sticks®, in 38 KS patients and 17 controls (by means of Screening 12 test®). All subjects underwent magnetic resonance imaging (MRI) to study OB volume, sulcus depth, and cortical thickness. Compared to controls, KS patients showed smaller OB volume (p<0.0001), reduced sulcus depth (p<0.0001), and thicker cortex in the region close to the OS (p<0.0001). Anosmic KS patients had smaller OB than controls and hyposmic KS patients; there was no difference between hyposmic KS patients and controls. OB volume correlated with Sniffin' Sticks score (r = 0.64; p < 0.001), OS depth (p<0.0001) and, inversely, with cortical thickness changes (p<0.0001). Sniffin' Sticks showed an inverse correlation with cortical thickness (r = -0.5; p<0.0001) and a trend toward a statistically significant correlation with OS depth. The present study provides further evidence of the strict relationship between olfaction and OB volume. The strong correlation between OB volume and the overlying cortical changes highlights the key role of rhinencephalon in forebrain embryogenesis. © 2015 ARS-AAOA, LLC.

  10. 75 FR 55619 - Kansas Disaster Number KS-00045

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-13

    ... SMALL BUSINESS ADMINISTRATION [Disaster Declaration 12272 and 12273] Kansas Disaster Number KS-00045 AGENCY: U.S. Small Business Administration. ACTION: Amendment 1. SUMMARY: This is an amendment of... of Federal Domestic Assistance Numbers 59002 and 59008) James E. Rivera, Associate Administrator for...

  11. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

    PubMed Central

    Ross, Judith L.; Zeger, Martha P.D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

    2010-01-01

    Objective The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype (Klinefelter syndrome, KS), who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods Neuropsychological evaluation of general cognitive ability, language, memory, attention, visual-spatial abilities, visual-motor skills, and motor function. Results Study cohort: 21 boys with 47,XYY and 93 boys with 47,XXY (KS), ages 4-17 years, and 36 age-matched control boys. Both the XYY and KS groups performed less well, on average, than the controls on tests of general cognitive ability, achievement, language, verbal memory, some aspects of attention and executive function, and motor function. The boys with XYY on average had more severe and pervasive language impairment, at both simple and complex levels, and the boys with KS on average had greater motor impairment in gross motor function and coordination, especially in running speed and agility. Conclusions The results from these large XYY and KS cohorts have important neurocognitive and educational implications. From the neurocognitive standpoint, the presenting findings afford an opportunity to gain insights into brain development in boys with XYY and those with KS. From the educational standpoint, it is critical that boys with XYY or KS receive appropriate educational interventions that target their specific learning challenges. These findings also provide important information for counseling clinicians and families about these disorders. PMID:20014371

  12. 76 FR 13966 - Television Broadcasting Services; Topeka, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-15

    ... FEDERAL COMMUNICATIONS COMMISSION 47 CFR Part 73 [MB Docket No. 11-33, RM-11623; DA 11-406] Television Broadcasting Services; Topeka, KS AGENCY: Federal Communications Commission. ACTION: Proposed rule... before April 29, 2011. ADDRESSES: Federal Communications Commission, Office of the Secretary, 445 12th...

  13. De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.

    PubMed

    Wang, Fang; Zhao, Shaoli; Xie, Yanhong; Yang, Wenjun; Mo, Zhaohui

    2018-03-01

    Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years. Additionally, he showed anosmia, sensory deafness, and blue irises. Last year, he developed clinical symptoms of hyperthyroidism with a fast heartbeat, heat intolerance and weight loss. Blood examinations revealed low levels of FSH, LH, and testosterone. Thyroid function showed high levels of FT3, FT4 and extremely low level of TSH. Molecular analysis detected a de novo (c.565G>T/p.E189X) mutation in SOX10, which has previously been reported in a patient with WS4 (WS with Hirschsprung). The mutation was predicted to be probably damaging. These results highlight the significance of SOX10 haploinsufficiency as a genetic cause of KS. Importantly, our result implies that the same SOX10 mutation can underlie both typical KS and WS, while the correlation between SOX10 and hyperthyroidism still needs to be clarified in the future. © 2018 by the Association of Clinical Scientists, Inc.

  14. Implicit Memory in Korsakoff’s Syndrome: A Review of Procedural Learning and Priming Studies

    PubMed Central

    Hayes, Scott M.; Fortier, Catherine B.; Levine, Andrea; Milberg, William P.; McGlinchey, Regina

    2013-01-01

    Korsakoff’s syndrome (KS) is characterized by dense anterograde amnesia resulting from damage to the diencephalon region, typically resulting from chronic alcohol abuse and thiamine deficiency. This review assesses the integrity of the implicit memory system in KS, focusing on studies of procedural learning and priming. KS patients are impaired on several measures of procedural memory, most likely due to impairment in cognitive functions associated with alcohol-related neural damage outside of the diencephalon. The pattern of performance on tasks of implicit priming suggests reliance on a residual, non-flexible memory operating more or less in an automatic fashion. Our review concludes that whether measures of implicit memory reveal intact or impaired performance in individuals with KS depends heavily on specific task parameters and demands, including timing between stimuli, the specific nature of the stimuli used in a task, and the integrity of supportive cognitive functions necessary for performance. PMID:22592661

  15. Quantitative analysis of the Ca2+‐dependent regulation of delayed rectifier K+ current I Ks in rabbit ventricular myocytes

    PubMed Central

    Bartos, Daniel C.; Morotti, Stefano; Ginsburg, Kenneth S.; Grandi, Eleonora

    2017-01-01

    Key points [Ca2+]i enhanced rabbit ventricular slowly activating delayed rectifier K+ current (I Ks) by negatively shifting the voltage dependence of activation and slowing deactivation, similar to perfusion of isoproterenol.Rabbit ventricular rapidly activating delayed rectifier K+ current (I Kr) amplitude and voltage dependence were unaffected by high [Ca2+]i.When measuring or simulating I Ks during an action potential, I Ks was not different during a physiological Ca2+ transient or when [Ca2+]i was buffered to 500 nm. Abstract The slowly activating delayed rectifier K+ current (I Ks) contributes to repolarization of the cardiac action potential (AP). Intracellular Ca2+ ([Ca2+]i) and β‐adrenergic receptor (β‐AR) stimulation modulate I Ks amplitude and kinetics, but details of these important I Ks regulators and their interaction are limited. We assessed the [Ca2+]i dependence of I Ks in steady‐state conditions and with dynamically changing membrane potential and [Ca2+]i during an AP. I Ks was recorded from freshly isolated rabbit ventricular myocytes using whole‐cell patch clamp. With intracellular pipette solutions that controlled free [Ca2+]i, we found that raising [Ca2+]i from 100 to 600 nm produced similar increases in I Ks as did β‐AR activation, and the effects appeared additive. Both β‐AR activation and high [Ca2+]i increased maximally activated tail I Ks, negatively shifted the voltage dependence of activation, and slowed deactivation kinetics. These data informed changes in our well‐established mathematical model of the rabbit myocyte. In both AP‐clamp experiments and simulations, I Ks recorded during a normal physiological Ca2+ transient was similar to I Ks measured with [Ca2+]i clamped at 500–600 nm. Thus, our study provides novel quantitative data as to how physiological [Ca2+]i regulates I Ks amplitude and kinetics during the normal rabbit AP. Our results suggest that micromolar [Ca2+]i, in the submembrane or junctional cleft

  16. Empirical transfer functions: Application to the determination of outermost core velocity structure using teleseismic SmKS phases

    NASA Astrophysics Data System (ADS)

    Eaton, D. W.; Alexandrakis, C.

    2007-05-01

    Teleseismic SmKS waves propagate as S-waves in the mantle and compressional (K) waves in the core, with m-1 underside bounce points at the core-mantle boundary. For long-period or broadband recordings at epicentral distances of 115-135°, higher-order SmKS waves (3 ≤ m < ∞) are not often discernible as distinct pulses. Instead, they are typically manifested as a weakly dispersive waveform that lags SKKS by ~ 12-32s. In a ray-theoretical representation of this process, there is a strong geometrical similarity between the coalescence of SmKS turning waves to form a composite arrival and the interference of mantle S waves to form teleseismic Love waves. SmKS waves can thus be viewed as a type of pseudo-interface wave, the dispersive properties of which depend strongly on the fine-scale velocity structure of the outermost core. In order to analyze SmKS arrivals, we have developed an empirical transfer-function (ETF) technique that uses SKKS as a reference phase. An ETF is a wave-shaping filter that transforms the observed SKKS pulse into the observed SmKS pulse. We obtain this filter by windowing the respective pulses and applying frequency- domain Wiener deconvolution. Each ETF contains SmKS-SKKS differential arrival-time, phase-shift and relative-amplitude information; it also implicitly removes the source-time function and instrument response, thus facilitating the merging of results from different stations and events. Here, we apply this approach to global observations of SmKS phases and invert the results to yield a new velocity model for the outermost core region.

  17. Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives.

    PubMed

    Salzano, Andrea; Arcopinto, Michele; Marra, Alberto M; Bobbio, Emanuele; Esposito, Daniela; Accardo, Giacomo; Giallauria, Francesco; Bossone, Eduardo; Vigorito, Carlo; Lenzi, Andrea; Pasquali, Daniela; Isidori, Andrea M; Cittadini, Antonio

    2016-07-01

    Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500-700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular, and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. The aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including Diabetes mellitus (DM), dyslipidemia, and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated with arterial hypertension. Moreover, KS patients are characterized by subclinical abnormalities in left ventricular (LV) systolic and diastolic function and endothelial function, which, when associated with chronotropic incompetence may led to reduced cardiopulmonary performance. KS patients appear to be at a higher risk for cardiovascular disease, attributing to an increased risk of thromboembolic events with a high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism with higher risk of deep venous thrombosis or pulmonary embolism. It appears that cardiovascular involvement in KS is mainly due to chromosomal abnormalities rather than solely on low serum testosterone levels. On the basis of evidence acquisition and authors' own experience, a flowchart addressing the management of cardiovascular function and prognosis of KS patients has been developed for clinical use. © 2016 European Society of Endocrinology.

  18. Utility of immunohistochemical staining with FLI1, D2-40, CD31, and CD34 in the diagnosis of acquired immunodeficiency syndrome-related and non-acquired immunodeficiency syndrome-related Kaposi sarcoma.

    PubMed

    Rosado, Flavia G Nunes; Itani, Doha M; Coffin, Cheryl M; Cates, Justin M

    2012-03-01

    Kaposi sarcoma (KS) is a vascular tumor frequently associated with advanced human immunodeficiency virus infection, advanced age, or iatrogenic immunosuppression. Immunohistochemistry for CD31 and CD34, and more recently for FLI1 and D2-40, has been used as ancillary diagnostic tests for KS, despite little information regarding the sensitivities and differential staining patterns of the latter 2 markers in the major clinical subtypes and histologic stages of KS. This retrospective study aims to assess the prevalence of the vascular markers D2-40 and FLI1 in the main clinical subgroups and tumor stages of KS. Twenty-four cases of KS (12 acquired immunodeficiency syndrome [AIDS]-related cases and 12 non-AIDS-related cases; 11 nodular-stage and 13 patch/plaque-stage KS) were stained for CD34, CD31, D2-40, and FLI1 by immunohistochemistry. The distribution of immunoreactivity was compared between the clinical subtypes and tumor stages of KS using the Mann-Whitney test. CD31, CD34, D2-40, and FLI1 strongly and diffusely stained tumor cells in 75%, 92%, 67%, and 92% of AIDS-related cases and 58%, 92%, 67%, and 75% of non-AIDS-related cases, respectively. Differences in the proportions of positive cases between AIDS-related and non-AIDS-related cases did not reach statistical significance. No significant staining differences were observed between nodular- and patch/plaque-stage KS either. There are no differences in the distribution of immunohistochemical reactivity for CD31, CD34, D2-40, or FLI1 between AIDS-related and non-AIDS-related KS or between nodular- and patch/plaque-stage KS. All of the markers studied demonstrated high sensitivity in both clinical settings and both stages of tumor progression.

  19. Comparison of D--> KS0 pi and D--> KL0 pi decay rates.

    PubMed

    He, Q; Insler, J; Muramatsu, H; Park, C S; Thorndike, E H; Yang, F; Coan, T E; Gao, Y S; Artuso, M; Blusk, S; Butt, J; Li, J; Menaa, N; Mountain, R; Nisar, S; Randrianarivony, K; Sia, R; Skwarnicki, T; Stone, S; Wang, J C; Zhang, K; Bonvicini, G; Cinabro, D; Dubrovin, M; Lincoln, A; Asner, D M; Edwards, K W; Briere, R A; Ferguson, T; Tatishvili, G; Vogel, H; Watkins, M E; Rosner, J L; Adam, N E; Alexander, J P; Cassel, D G; Duboscq, J E; Ehrlich, R; Fields, L; Gibbons, L; Gray, R; Gray, S W; Hartill, D L; Heltsley, B K; Hertz, D; Jones, C D; Kandaswamy, J; Kreinick, D L; Kuznetsov, V E; Mahlke-Krüger, H; Onyisi, P U E; Patterson, J R; Peterson, D; Pivarski, J; Riley, D; Ryd, A; Sadoff, A J; Schwarthoff, H; Shi, X; Stroiney, S; Sun, W M; Wilksen, T; Weinberger, M; Athar, S B; Patel, R; Potlia, V; Yelton, J; Rubin, P; Cawlfield, C; Eisenstein, B I; Karliner, I; Kim, D; Lowrey, N; Naik, P; Selen, M; White, E J; Wiss, J; Mitchell, R E; Shepherd, M R; Besson, D; Pedlar, T K; Cronin-Hennessy, D; Gao, K Y; Hietala, J; Kubota, Y; Klein, T; Lang, B W; Poling, R; Scott, A W; Smith, A; Zweber, P; Dobbs, S; Metreveli, Z; Seth, K K; Tomaradze, A; Ernst, J; Ecklund, K M; Severini, H; Love, W; Savinov, V; Aquines, O; Li, Z; Lopez, A; Mehrabyan, S; Mendez, H; Ramirez, J; Huang, G S; Miller, D H; Pavlunin, V; Sanghi, B; Shipsey, I P J; Xin, B; Adams, G S; Anderson, M; Cummings, J P; Danko, I; Hu, D; Moziak, B; Napolitano, J

    2008-03-07

    We present measurements of D--> KS0 pi and D--> KL0 pi branching fractions using 281 pb(-1) of psi(3770) data at the CLEO-c experiment. We find that B(D0--> KS0 pi 0) is larger than B(D0--> KL0 pi 0), with an asymmetry of R(D0)=0.108+/-0.025+/-0.024. For B(D+--> KS0 pi+) and B(D+--> KL0 pi+), we observe no measurable difference; the asymmetry is R(D+)=0.022+/-0.016+/-0.018. The D0 asymmetry is consistent with the value based on the U-spin prediction A(D0--> K0 pi 0)/A(D0--> K0 pi 0)=-tan2 theta C, where theta C is the Cabibbo angle.

  20. Translational Rodent Models of Korsakoff Syndrome Reveal the Critical Neuroanatomical Substrates of Memory Dysfunction and Recovery

    PubMed Central

    Hall, Joseph M.; Resende, Leticia S.

    2016-01-01

    Investigation of the amnesic disorder Korsakoff Syndrome (KS) has been vital in elucidating the critical brain regions involved in learning and memory. Although the thalamus and mammillary bodies are the primary sites of neuropathology in KS, functional deactivation of the hippocampus and certain cortical regions also contributes to the chronic cognitive dysfunction reported in KS. The rodent pyrithiamine-induced thiamine deficiency (PTD) model has been used to study the extent of hippocampal and cortical neuroadaptations in KS. In the PTD model, the hippocampus, frontal and retrosplenial cortical regions display loss of cholinergic innervation, decreases in behaviorally stimulated acetylcholine release and reductions in neurotrophins. While PTD treatment results in significant impairment in measures of spatial learning and memory, other cognitive processes are left intact and may be recruited to improve cognitive outcome. In addition, behavioral recovery can be stimulated in the PTD model by increasing acetylcholine levels in the medial septum, hippocampus and frontal cortex, but not in the retrosplenial cortex. These data indicate that although the hippocampus and frontal cortex are involved in the pathogenesis of KS, these regions retain neuroplasticity and may be critical targets for improving cognitive outcome in KS. PMID:22528861

  1. Translational rodent models of Korsakoff syndrome reveal the critical neuroanatomical substrates of memory dysfunction and recovery.

    PubMed

    Savage, Lisa M; Hall, Joseph M; Resende, Leticia S

    2012-06-01

    Investigation of the amnesic disorder Korsakoff Syndrome (KS) has been vital in elucidating the critical brain regions involved in learning and memory. Although the thalamus and mammillary bodies are the primary sites of neuropathology in KS, functional deactivation of the hippocampus and certain cortical regions also contributes to the chronic cognitive dysfunction reported in KS. The rodent pyrithiamine-induced thiamine deficiency (PTD) model has been used to study the extent of hippocampal and cortical neuroadaptations in KS. In the PTD model, the hippocampus, frontal and retrosplenial cortical regions display loss of cholinergic innervation, decreases in behaviorally stimulated acetylcholine release and reductions in neurotrophins. While PTD treatment results in significant impairment in measures of spatial learning and memory, other cognitive processes are left intact and may be recruited to improve cognitive outcome. In addition, behavioral recovery can be stimulated in the PTD model by increasing acetylcholine levels in the medial septum, hippocampus and frontal cortex, but not in the retrosplenial cortex. These data indicate that although the hippocampus and frontal cortex are involved in the pathogenesis of KS, these regions retain neuroplasticity and may be critical targets for improving cognitive outcome in KS.

  2. Anthropometry in Klinefelter syndrome--multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism.

    PubMed

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian; Bojesen, Anders; Hertz, Jens Michael; Cohen, Arieh; Hougaard, David Michael; Wallentin, Mikkel; Pedersen, Anders Degn; Østergaard, John Rosendahl; Gravholt, Claus Højbjerg

    2015-03-01

    Klinefelter syndrome, 47, XXY (KS), is underdiagnosed partly due to few clinical signs complicating identification of affected individuals. Certain phenotypic traits are common in KS. However, not all aspects of the KS phenotype are well described. To describe anthropometry and body composition in KS and relate findings to biochemistry and X-chromosome related genetic markers. Seventy three KS males referred to our clinic and 73 age-matched controls underwent comprehensive measurements of anthropometry and body composition in a cross-sectional, case-controlled study. Furthermore, genetic analysis for parental origin of the supernumerary X-chromosome, skewed X-chromosome inactivation and androgen receptor (AR) CAG repeat length was done. Anthropometry and body composition in KS and the effect of genotype hereon. KS males were taller (absolute difference: 5.1 cm, P < .001) with longer legs (5.7 cm, P < .001) compared with controls. Furthermore, 2D:4D was increased in KS males (relative effect size: Cohen's d = 0.40), reflecting reduced fetal testosterone exposure. Also, bi-iliac width (0.41), waist (0.52), and hip circumference (0.47) (P < .02 for all), as well as total fat mass (0.74), abdominal fat mass (0.67), and total body fat percentage (0.84) was increased in KS males (P < .001 for all), while bitesticular volume was reduced (4.6). AR CAG repeat length was comparable in KS and controls, and among KS CAG correlated to arm length (P = .04), arm span (P = .01), and leg length (P = .04). Effects of parental origin of the supernumerary X-chromosome and skewed X-chromosome inactivation were negligible. Anthropometry and body composition in KS is specific and dysmorphic and affected by AR CAG repeat length and decreased exposure to testosterone already during fetal life.

  3. Route learning in Korsakoff's syndrome: Residual acquisition of spatial memory despite profound amnesia.

    PubMed

    Oudman, Erik; Van der Stigchel, Stefan; Nijboer, Tanja C W; Wijnia, Jan W; Seekles, Maaike L; Postma, Albert

    2016-03-01

    Korsakoff's syndrome (KS) is characterized by explicit amnesia, but relatively spared implicit memory. The aim of this study was to assess to what extent KS patients can acquire spatial information while performing a spatial navigation task. Furthermore, we examined whether residual spatial acquisition in KS was based on automatic or effortful coding processes. Therefore, 20 KS patients and 20 matched healthy controls performed six tasks on spatial navigation after they navigated through a residential area. Ten participants per group were instructed to pay close attention (intentional condition), while 10 received mock instructions (incidental condition). KS patients showed hampered performance on a majority of tasks, yet their performance was superior to chance level on a route time and distance estimation tasks, a map drawing task and a route walking task. Performance was relatively spared on the route distance estimation task, but there were large variations between participants. Acquisition in KS was automatic rather than effortful, since no significant differences were obtained between the intentional and incidental condition on any task, whereas for the healthy controls, the intention to learn was beneficial for the map drawing task and the route walking task. The results of this study suggest that KS patients are still able to acquire spatial information during navigation on multiple domains despite the presence of the explicit amnesia. Residual acquisition is most likely based on automatic coding processes. © 2014 The British Psychological Society.

  4. Function and Dysfunction of Prefrontal Brain Circuitry in Alcoholic Korsakoff’s Syndrome

    PubMed Central

    Oscar-Berman, Marlene

    2013-01-01

    The signature symptom of alcohol-induced persisting amnestic disorder, more commonly referred to as alcoholic Korsakoff’s syndrome (KS), is anterograde amnesia, or memory loss for recent events, and until the mid 20th Century, the putative brain damage was considered to be in diencephalic and medial temporal lobe structures. Overall intelligence, as measured by standardized IQ tests, usually remains intact. Preservation of IQ occurs because memories formed before the onset of prolonged heavy drinking — the types of information and abilities tapped by intelligence tests — remain relatively well preserved compared with memories recently acquired. However, clinical and experimental evidence has shown that neurobehavioral dysfunction in alcoholic patients with KS does include nonmnemonic abilities, and further brain damage involves extensive frontal and limbic circuitries. Among the abnormalities are confabulation, disruption of elements of executive functioning and cognitive control, and emotional impairments. Here, we discuss the relationship between neurobehavioral impairments in KS and alcoholism-related brain damage. More specifically, we examine the role of damage to prefrontal brain systems in the neuropsychological profile of alcoholic KS. PMID:22538385

  5. Comparison of D→KS0π and D→KL0π Decay Rates

    NASA Astrophysics Data System (ADS)

    He, Q.; Insler, J.; Muramatsu, H.; Park, C. S.; Thorndike, E. H.; Yang, F.; Coan, T. E.; Gao, Y. S.; Artuso, M.; Blusk, S.; Butt, J.; Li, J.; Menaa, N.; Mountain, R.; Nisar, S.; Randrianarivony, K.; Sia, R.; Skwarnicki, T.; Stone, S.; Wang, J. C.; Zhang, K.; Bonvicini, G.; Cinabro, D.; Dubrovin, M.; Lincoln, A.; Asner, D. M.; Edwards, K. W.; Briere, R. A.; Ferguson, T.; Tatishvili, G.; Vogel, H.; Watkins, M. E.; Rosner, J. L.; Adam, N. E.; Alexander, J. P.; Cassel, D. G.; Duboscq, J. E.; Ehrlich, R.; Fields, L.; Gibbons, L.; Gray, R.; Gray, S. W.; Hartill, D. L.; Heltsley, B. K.; Hertz, D.; Jones, C. D.; Kandaswamy, J.; Kreinick, D. L.; Kuznetsov, V. E.; Mahlke-Krüger, H.; Onyisi, P. U. E.; Patterson, J. R.; Peterson, D.; Pivarski, J.; Riley, D.; Ryd, A.; Sadoff, A. J.; Schwarthoff, H.; Shi, X.; Stroiney, S.; Sun, W. M.; Wilksen, T.; Weinberger, M.; Athar, S. B.; Patel, R.; Potlia, V.; Yelton, J.; Rubin, P.; Cawlfield, C.; Eisenstein, B. I.; Karliner, I.; Kim, D.; Lowrey, N.; Naik, P.; Selen, M.; White, E. J.; Wiss, J.; Mitchell, R. E.; Shepherd, M. R.; Besson, D.; Pedlar, T. K.; Cronin-Hennessy, D.; Gao, K. Y.; Hietala, J.; Kubota, Y.; Klein, T.; Lang, B. W.; Poling, R.; Scott, A. W.; Smith, A.; Zweber, P.; Dobbs, S.; Metreveli, Z.; Seth, K. K.; Tomaradze, A.; Ernst, J.; Ecklund, K. M.; Severini, H.; Love, W.; Savinov, V.; Aquines, O.; Li, Z.; Lopez, A.; Mehrabyan, S.; Mendez, H.; Ramirez, J.; Huang, G. S.; Miller, D. H.; Pavlunin, V.; Sanghi, B.; Shipsey, I. P. J.; Xin, B.; Adams, G. S.; Anderson, M.; Cummings, J. P.; Danko, I.; Hu, D.; Moziak, B.; Napolitano, J.

    2008-03-01

    We present measurements of D→KS0π and D→KL0π branching fractions using 281pb-1 of ψ(3770) data at the CLEO-c experiment. We find that B(D0→KS0π0) is larger than B(D0→KL0π0), with an asymmetry of R(D0)=0.108±0.025±0.024. For B(D+→KS0π+) and B(D+→KL0π+), we observe no measurable difference; the asymmetry is R(D+)=0.022±0.016±0.018. The D0 asymmetry is consistent with the value based on the U-spin prediction A(D0→K0π0)/A(D0→K¯0π0)=-tan⁡2θC, where θC is the Cabibbo angle.

  6. Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

    PubMed Central

    Costa-Barbosa, Flavia Amanda; Balasubramanian, Ravikumar; Keefe, Kimberly W.; Shaw, Natalie D.; Al-Tassan, Nada; Plummer, Lacey; Dwyer, Andrew A.; Buck, Cassandra L.; Choi, Jin-Ho; Seminara, Stephanie B.; Quinton, Richard; Monies, Dorota; Meyer, Brian; Hall, Janet E.; Pitteloud, Nelly

    2013-01-01

    Context: The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic screening. Objective: The objective of the study was to determine which reproductive and nonreproductive phenotypes of KS subjects have implications for specific gene mutations. Subjects: Two hundred nineteen KS patients were studied: 151 with identified rare sequence variants (RSVs) in 8 genes known to cause KS (KAL1, NELF, CHD7, HS6ST1, FGF8/FGFR1, or PROK2/PROKR2) and 68 KS subjects who remain RSV negative for all 8 genes. Main Outcome Measures: Reproductive and nonreproductive phenotypes within each genetic group were measured. Results: Male KS subjects with KAL1 RSVs displayed the most severe reproductive phenotype with testicular volumes (TVs) at presentation of 1.5 ± 0.1 mL vs 3.7 ± 0.3 mL, P < .05 vs all non-KAL1 probands. In both sexes, synkinesia was enriched but not unique to patients with KAL1 RSVs compared with KAL1-negative probands (43% vs 12%; P < .05). Similarly, dental agenesis and digital bone abnormalities were enriched in patients with RSVs in the FGF8/FGFR1 signaling pathway compared with all other gene groups combined (39% vs 4% and 23% vs 0%; P < .05, respectively). Hearing loss marked the probands with CHD7 RSVs (40% vs 13% in non-CHD7 probands; P < .05). Renal agenesis and cleft lip/palate did not emerge as statistically significant phenotypic predictors. Conclusions: Certain clinical features in men and women are highly associated with genetic causes of KS. Synkinesia (KAL1), dental agenesis (FGF8/FGFR1), digital bony abnormalities (FGF8/FGFR1), and hearing loss (CHD7) can be useful for prioritizing genetic screening. PMID:23533228

  7. Crossmodal processing of emotions in alcohol-dependence and Korsakoff syndrome.

    PubMed

    Brion, Mélanie; D'Hondt, Fabien; Lannoy, Séverine; Pitel, Anne-Lise; Davidoff, Donald A; Maurage, Pierre

    2017-09-01

    Decoding emotional information from faces and voices is crucial for efficient interpersonal communication. Emotional decoding deficits have been found in alcohol-dependence (ALC), particularly in crossmodal situations (with simultaneous stimulations from different modalities), but are still underexplored in Korsakoff syndrome (KS). The aim of this study is to determine whether the continuity hypothesis, postulating a gradual worsening of cognitive and brain impairments from ALC to KS, is valid for emotional crossmodal processing. Sixteen KS, 17 ALC and 19 matched healthy controls (CP) had to detect the emotion (anger or happiness) displayed by auditory, visual or crossmodal auditory-visual stimuli. Crossmodal stimuli were either emotionally congruent (leading to a facilitation effect, i.e. enhanced performance for crossmodal condition compared to unimodal ones) or incongruent (leading to an interference effect, i.e. decreased performance for crossmodal condition due to discordant information across modalities). Reaction times and accuracy were recorded. Crossmodal integration for congruent information was dampened only in ALC, while both ALC and KS demonstrated, compared to CP, decreased performance for decoding emotional facial expressions in the incongruent condition. The crossmodal integration appears impaired in ALC but preserved in KS. Both alcohol-related disorders present an increased interference effect. These results show the interest of more ecological designs, using crossmodal stimuli, to explore emotional decoding in alcohol-related disorders. They also suggest that the continuum hypothesis cannot be generalised to emotional decoding abilities.

  8. Morphological and Glucose Metabolism Abnormalities in Alcoholic Korsakoff's Syndrome: Group Comparisons and Individual Analyses

    PubMed Central

    Pitel, Anne-Lise; Aupée, Anne-Marie; Chételat, Gaël; Mézenge, Florence; Beaunieux, Hélène; de la Sayette, Vincent; Viader, Fausto; Baron, Jean-Claude; Eustache, Francis; Desgranges, Béatrice

    2009-01-01

    Background Gray matter volume studies have been limited to few brain regions of interest, and white matter and glucose metabolism have received limited research attention in Korsakoff's syndrome (KS). Because of the lack of brain biomarkers, KS was found to be underdiagnosed in postmortem studies. Methodology/Principal Findings Nine consecutively selected patients with KS and 22 matched controls underwent both structural magnetic resonance imaging and 18F-fluorodeoxyglucose positron emission tomography examinations. Using a whole-brain analysis, the between-group comparisons of gray matter and white matter density and relative glucose uptake between patients with KS and controls showed the involvement of both the frontocerebellar and the Papez circuits, including morphological abnormalities in their nodes and connection tracts and probably resulting hypometabolism. The direct comparison of the regional distribution and degree of gray matter hypodensity and hypometabolism within the KS group indicated very consistent gray matter distribution of both abnormalities, with a single area of significant difference in the middle cingulate cortex showing greater hypometabolism than hypodensity. Finally, the analysis of the variability in the individual patterns of brain abnormalities within our sample of KS patients revealed that the middle cingulate cortex was the only brain region showing significant GM hypodensity and hypometabolism in each of our 9 KS patients. Conclusions/Significance These results indicate widespread brain abnormalities in KS including both gray and white matter damage mainly involving two brain networks, namely, the fronto-cerebellar circuit and the Papez circuit. Furthermore, our findings suggest that the middle cingulate cortex may play a key role in the pathophysiology of KS and could be considered as a potential in vivo brain biomarker. PMID:19936229

  9. Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition.

    PubMed

    Vawter, Marquis P; Harvey, Philip D; DeLisi, Lynn E

    2007-09-05

    Klinefelter's Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini-Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression-cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. Overexpression of one pseudoautosomal gene, GTPBP6 (GTP binding protein 6, putative) was inversely correlated with verbal IQ (r = -0.86, P < 0.001) and four other measures of verbal ability. Overexpression of XIST was found in KS compared to XY controls suggesting that silencing of many genes on the X chromosome might occur in KS similar to XX females. The microarray findings for eight DEGs were validated by quantitative PCR. The 14 X chromosome DEGs were not differentially expressed in prior studies comparing female and male brains suggesting a dysregulation profile unique to KS. Examination of X-linked DEGs, such as GTPBP6, TAF9L, and CXORF21, that show verbal cognition-gene expression correlations may establish a causal link between these genes, neurodevelopment, and language function. A screen of candidate genes may serve as biomarkers of KS for early diagnosis. Copyright 2007 Wiley-Liss, Inc.

  10. Neuroanatomy and neuropathology associated with Korsakoff's syndrome.

    PubMed

    Kril, Jillian J; Harper, Clive G

    2012-06-01

    Although the neuropathology of Korsakoff's syndrome (KS) was first described well over a century ago and the characteristic brain pathology does not pose a diagnostic challenge to pathologists, there is still controversy over the neuroanatomical substrate of the distinctive memory impairment in these patients. Cohort studies of KS suggest a central role for the mammillary bodies and mediodorsal thalamus, and quantitative studies suggest additional damage to the anterior thalamus is required. Rare cases of KS caused by pathologies other than those of nutritional origin provide support for the role of the anterior thalamus and mammillary bodies. Taken together the evidence to date shows that damage to the thalamus and hypothalamus is required, in particular the anterior thalamic nucleus and the medial mammillary nucleus of the hypothalamus. As these nuclei form part of wider memory circuits, damage to the inter-connecting white matter tracts can also result in a similar deficit as direct damage to the nuclei. Although these nuclei and their connections appear to be the primary site of damage, input from other brain regions within the circuits, such as the frontal cortex and hippocampus, or more distant regions, including the cerebellum and amygdala, may have a modulatory role on memory function. Further studies to confirm the precise site(s) and extend of brain damage necessary for the memory impairment of KS are required.

  11. Probing the Structure near the Top of the Earth's Outer Core Using SmKS Traveltimes

    NASA Astrophysics Data System (ADS)

    Tang, V. C.; Zhao, L.; Hung, S.

    2013-12-01

    The Earth's solid inner core is composed of heavy Fe and Ni with a fraction of light elements such as O, S, Si. These light elements were expelled from the inner core during its formation and rise up through the outer core as the result of buoyancy, but their existence is still a mystery. Some authors have presented seismological evidence for lowered wave speed beneath the core-mantle boundary (CMB) relative to PREM, suggesting light elements there, but counter argument also exists. In this study, we use traveltime measurements from recorded and modeled SmKS waves to investigate the effect of the velocity under the CMB on the differential traveltimes between SKKS and S3KS waves (TS3KS-TSKKS). Due to the long propagation distance and interference with neighboring phases, the arrival times of SKKS and S3KS waves are difficult to define accurately in the records. Therefore in our analysis we measure both the observed and model-predicted differential traveltime TS3KS-TSKKS by cross-correlating the waveform of Hilbert-transformed S3KS with that of SKKS. We use synthetic seismograms calculated by the Direct-Solution Method (DSM) in a suite of 1D models with different structural profiles under the CMB to examine the existence of a zone of lowered velocity at the top of the outer core. We are conducting a systematic investigation using waveforms available at IRIS from globally distributed large deep earthquakes. Results from events we have processed so far indicate that the velocity under the CMB is slightly slower than that in PREM.

  12. Genome-wide site-specific differential methylation in the blood of individuals with Klinefelter Syndrome

    PubMed Central

    Wan, Emily S.; Qiu, Weiliang; Morrow, Jarrett; Beaty, Terri H.; Hetmanski, Jacqueline; Make, Barry J.; Lomas, David A.; Silverman, Edwin K.; DeMeo, Dawn L.

    2015-01-01

    Klinefelter syndrome (KS) (47 XXY) is a common sex-chromosome aneuploidy with an estimated prevalence of 1 in every 660 male births. Investigations into the associations between DNA methylation and the highly variable clinical manifestations of KS have largely focused on the supernumerary X chromosome; systematic investigations of the epigenome have been limited. We obtained genome-wide DNA methylation data from peripheral blood using the Illumina HumanMethylation450K platform in 5 KS (47 XXY), 102 male (46 XY), and 113 female (46 XX) control subjects participating in the chronic obstructive pulmonary disease (COPD) Gene Study. Empirical Bayes-mediated models were used to test for differential methylation by KS status. CpG sites with a false-discovery rate <0.05 from the first-generation HumanMethylation27K platform were further examined in an independent replication cohort of 2 KS subjects, 590 male, and 495 female controls drawn from the International COPD Genetics Network (ICGN). Differential methylation at sites throughout the genome were identified, including 86 CpG sites that were differentially methylated in KS subjects relative to both male and female controls. CpG sites annotated to the HEN1 methyltransferase homolog 1 (HENMT1), calcyclin-binding protein (CACYBP), and GTPase-activating protein (SH3 domain)-binding protein 1 (G3BP1) genes were among the “KS-specific” loci that were replicated in ICGN. We therefore conclude that site-specific differential methylation exists throughout the genome in KS. The functional impact and clinical relevance of these differentially methylated loci should be explored in future studies. PMID:25988574

  13. Long-Term Mortality of Patients with an Alcohol-Related Wernicke-Korsakoff Syndrome.

    PubMed

    Sanvisens, Arantza; Zuluaga, Paola; Fuster, Daniel; Rivas, Inmaculada; Tor, Jordi; Marcos, Miguel; Chamorro, Antonio J; Muga, Roberto

    2017-07-01

    To characterize a series of contemporary patients with alcohol-related Wernicke's encephalopathy (WE) or Korsakoff's syndrome (KS) and to update the current prognosis of disease. Retrospective and prospective study of patients diagnosed with an alcohol-related WE or KS between 2002 and 2011 in a tertiary hospital. Socio-demographic, alcohol use characteristics, signs and symptoms, co-morbidity and blood parameters were obtained at admission. Patients were followed up until 2013 and causes of death were ascertained through the review of charts. Sixty-one patients were included (51 with WE and 10 with KS). Among patients with WE, 78% were men and age at diagnosis was 57 years (interquartile range (IQR): 49-66). Twenty-three percent fulfilled the classic WE triad. Regarding Caine's criteria for WE, 70.6% presented with at least two out of four signs or symptoms. Median follow-up of patients with WE syndrome was 5.3 years (IQR: 2.6-8.8), the cumulated mortality was 45% and death rate of 7.4 × 100 person-years (95% confidence interval (CI): 4.8-10.9). Overall, 50% of patients would be expected to die within 8 years of WE episode and main causes of death included serious bacterial infections (44.5%) and cancer (33.3%). Survival of patients with an alcohol-related Wernicke-Korsakoff syndrome is poor; pursuing treatment of alcohol use disorder and early diagnosis of thiamine deficiency is a priority for improving clinical outcomes. © The Author 2017. Medical Council on Alcohol and Oxford University Press. All rights reserved.

  14. UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.

    PubMed

    Maier, Kristin; He, Yinghong; Wölfle, Ute; Esser, Philipp R; Brummer, Tilman; Schempp, Christoph; Bruckner-Tuderman, Leena; Has, Cristina

    2016-12-15

    Kindler syndrome (KS), a rare, autosomal recessive disorder comprises mechanical skin fragility and photosensitivity, which manifest early in life. The progression of the disorder is irreversible and results in tissue damage in form of cutaneous and mucosal atrophy and scarring and epithelial cancers. Here, we unravel molecular mechanisms of increased UV-B sensitivity of keratinocytes derived from KS patients. We show that the pro-inflammatory cytokines, IL-1ß, IL-6 and TNF-α, are upregulated in KS skin and in UV-B irradiated KS keratinocytes. These cytokines are dependent on p38 activation, which is increased in the absence of kindlin-1 and induced by higher ROS levels. Other dysregulated cytokines and growth factors were identified in this study and might be involved in paracrine interactions contributing to KS pathology. We show a direct relationship between kindlin-1 abundance and UV-B induced apoptosis in keratinocytes, whereas kindlin-2 overexpression has no compensatory effect. Importantly, low levels of kindlin-1 are sufficient to relieve or rescue this feature. Reduction of pro-inflammatory cytokines and of UV-B induced apoptosis is a valid therapeutic goal to influence long term complications of KS. Here, we demonstrate that antioxidants and the plant flavonoid luteolin represent feasible topical therapeutic approaches decreasing UV-B induced apoptosis in two-dimensional and organotypic KS cultures. We provide evidence for potential new therapeutic approaches to mitigate the progressive course of KS, for which no cure is available to date. Furthermore, we established organotypic KS models, a valuable in vitro tool for research with a morphology similar to the skin of patients in situ. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  15. Dysregulation of X-Linked Gene Expression in Klinefelter’s Syndrome and Association With Verbal Cognition

    PubMed Central

    Vawter, Marquis P.; Harvey, Philip D.; DeLisi, Lynn E.

    2007-01-01

    Klinefelter’s Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini–Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression–cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. Overexpression of one pseudoautosomal gene, GTPBP6 (GTP binding protein 6, putative) was inversely correlated with verbal IQ (r = −0.86, P < 0.001) and four other measures of verbal ability. Overexpression of XIST was found in KS compared to XY controls suggesting that silencing of many genes on the X chromosome might occur in KS similar to XX females. The microarray findings for eight DEGs were validated by quantitative PCR. The 14 X chromosome DEGs were not differentially expressed in prior studies comparing female and male brains suggesting a dysregulation profile unique to KS. Examination of X-linked DEGs, such as GTPBP6, TAF9L, and CXORF21, that show verbal cognition–gene expression correlations may establish a causal link between these genes, neurodevelopment, and language function. A screen of candidate genes may serve as biomarkers of KS for early diagnosis. PMID:17347996

  16. Oxidative stress and mitochondrial dysfunction in Kindler syndrome.

    PubMed

    Zapatero-Solana, Elisabeth; García-Giménez, Jose Luis; Guerrero-Aspizua, Sara; García, Marta; Toll, Agustí; Baselga, Eulalia; Durán-Moreno, Maria; Markovic, Jelena; García-Verdugo, Jose Manuel; Conti, Claudio J; Has, Cristina; Larcher, Fernando; Pallardó, Federico V; Del Rio, Marcela

    2014-12-21

    Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosis is still poorly understood. In addition, several pathognomonic features of KS, not related to skin fragility such as aging, inflammation and cancer predisposition have been strongly associated with oxidative stress. Alterations of the cellular redox status have not been previously studied in KS. Here we explored the role of oxidative stress in the pathogenesis of this rare cutaneous disease. Patient-derived keratinocytes and their respective controls were cultured and classified according to their different mutations by PCR and western blot, the oxidative stress biomarkers were analyzed by spectrophotometry and qPCR and additionally redox biosensors experiments were also performed. The mitochondrial structure and functionality were analyzed by confocal microscopy and electron microscopy. Patient-derived keratinocytes showed altered levels of several oxidative stress biomarkers including MDA (malondialdehyde), GSSG/GSH ratio (oxidized and reduced glutathione) and GCL (gamma-glutamyl cysteine ligase) subunits. Electron microscopy analysis of both, KS skin biopsies and keratinocytes showed marked morphological mitochondrial abnormalities. Consistently, confocal microscopy studies of mitochondrial fluorescent probes confirmed the mitochondrial derangement. Imbalance of oxidative stress biomarkers together with abnormalities in the mitochondrial network and function are consistent with a pro-oxidant state. This is the first study to describe mitochondrial dysfunction and oxidative stress involvement in KS.

  17. Visuospatial declarative learning despite profound verbal declarative amnesia in Korsakoff's syndrome.

    PubMed

    Oudman, Erik; Postma, Albert; Nijboer, Tanja C W; Wijnia, Jan W; Van der Stigchel, Stefan

    2017-03-20

    Korsakoff's syndrome (KS) is a neuropsychiatric disorder characterised by severe amnesia. Although the presence of impairments in memory has long been acknowledged, there is a lack of knowledge about the precise characteristics of declarative memory capacities in order to implement memory rehabilitation. In this study, we investigated the extent to which patients diagnosed with KS have preserved declarative memory capacities in working memory, long-term memory encoding or long-term memory recall operations, and whether these capacities are most preserved for verbal or visuospatial content. The results of this study demonstrate that patients with KS have compromised declarative memory functioning on all memory indices. Performance was lowest for the encoding operation compared to the working memory and delayed recall operation. With respect to the content, visuospatial memory was relatively better preserved than verbal memory. All memory operations functioned suboptimally, although the most pronounced disturbance was found in verbal memory encoding. Based on the preserved declarative memory capacities in patients, visuospatial memory can form a more promising target for compensatory memory rehabilitation than verbal memory. It is therefore relevant to increase the number of spatial cues in memory rehabilitation for KS patients.

  18. First-principles study on the bulk and (1 1 1) surface half-metallicity of KS and RbS in CsCl structure

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Li, Lei; Lei, Gang; Gao, Qiang

    2015-08-15

    Graphical abstract: Spin-polarized total and atomic DOS at S-(1 1 1) terminated slab and bulk in CsCl-type RbS. - Highlights: • The half metallic properties of CsCl-type RbS and KS have been studied. • The RbS's and KS's (1 1 1) slabs have been investigated. • Surface energy of RbS's and KS's (1 1 1) slabs are calculated. - Abstract: The electronic and magnetic properties of RbS and KS in CsCl structure have been investigated by using the full-potential local-orbital minimum-basis method. Calculating the relation between the total energies and lattice parameters for RbS and KS, we find out thatmore » the equilibrium lattice parameters are 4.02 Å and 3.84 Å for RbS and KS, respectively. According to our calculations in generalized gradient approximation approximation, both RbS and KS are half-metallic ferromagnets with the magnetic moments of 1 μ{sub B} per formula unit, and band gap of 4.287 eV for RbS and 4.395 eV for KS. We also have studied the electronic and magnetic properties of (1 1 1) surfaces of RbS and KS, and have found out that the half-metallicity of their bulk is preserved in all of those surfaces. Finally, through the calculations of formation energy of RbS and KS, it is found that their thin films are stable in the equilibrium conditions, and the Rb-terminated (1 1 1) slab of RbS and the K-terminated (1 1 1) slab of KS are more stable than their S-terminated (1 1 1) slabs. All of the above properties lead the compounds of RbS and KS in CsCl structure to be promising candidates for spintronic applications.« less

  19. Search for the CP-Violating Decays Υ(4S)→B0B¯0→J/ψKS0+J/ψ(ηc)KS0

    NASA Astrophysics Data System (ADS)

    Tajima, O.; Hazumi, M.; Adachi, I.; Aihara, H.; Aulchenko, V.; Aushev, T.; Bakich, A. M.; Barberio, E.; Bay, A.; Bedny, I.; Bhardwaj, V.; Bitenc, U.; Bozek, A.; Bračko, M.; Browder, T. E.; Chang, M.-C.; Chang, P.; Chen, A.; Chen, K.-F.; Chen, W. T.; Cheon, B. G.; Chiang, C.-C.; Chistov, R.; Cho, I.-S.; Choi, Y.; Choi, Y. K.; Dalseno, J.; Danilov, M.; Dash, M.; Drutskoy, A.; Eidelman, S.; Epifanov, D.; Go, A.; Gokhroo, G.; Golob, B.; Haba, J.; Hayasaka, K.; Hayashii, H.; Heffernan, D.; Hokuue, T.; Hoshi, Y.; Hou, W.-S.; Hsiung, Y. B.; Hyun, H. J.; Iijima, T.; Ikado, K.; Inami, K.; Ishikawa, A.; Ishino, H.; Itoh, R.; Iwasaki, M.; Iwasaki, Y.; Joshi, N. J.; Kah, D. H.; Kaji, H.; Kang, J. H.; Kataoka, S. U.; Kawai, H.; Kawasaki, T.; Kichimi, H.; Kim, H. J.; Kim, H. O.; Kim, S. K.; Kim, Y. J.; Kinoshita, K.; Korpar, S.; Križan, P.; Krokovny, P.; Kumar, R.; Kuo, C. C.; Kwon, Y.-J.; Lange, J. S.; Lee, J. S.; Lee, M. J.; Lee, S. E.; Lesiak, T.; Li, J.; Lin, S.-W.; Liventsev, D.; Mandl, F.; Marlow, D.; McOnie, S.; Medvedeva, T.; Mitaroff, W.; Miyabayashi, K.; Miyake, H.; Miyata, H.; Mizuk, R.; Mohapatra, D.; Nagasaka, Y.; Nakano, E.; Nakao, M.; Nishida, S.; Nitoh, O.; Noguchi, S.; Nozaki, T.; Ogawa, S.; Ohshima, T.; Okuno, S.; Ozaki, H.; Pakhlov, P.; Pakhlova, G.; Park, C. W.; Park, H.; Pestotnik, R.; Piilonen, L. E.; Sahoo, H.; Sakai, Y.; Schneider, O.; Sekiya, A.; Senyo, K.; Sevior, M. E.; Shapkin, M.; Shen, C. P.; Shibuya, H.; Shiu, J.-G.; Shwartz, B.; Singh, J. B.; Sokolov, A.; Somov, A.; Stanič, S.; Starič, M.; Sumisawa, K.; Sumiyoshi, T.; Takasaki, F.; Tanaka, M.; Taylor, G. N.; Teramoto, Y.; Trabelsi, K.; Uehara, S.; Ueno, K.; Uglov, T.; Unno, Y.; Uno, S.; Urquijo, P.; Usov, Y.; Varner, G.; Varvell, K. E.; Vervink, K.; Villa, S.; Vinokurova, A.; Wang, C. C.; Wang, C. H.; Wang, M.-Z.; Wang, P.; Watanabe, Y.; Wedd, R.; Won, E.; Yabsley, B. D.; Yamaguchi, A.; Yamashita, Y.; Yamauchi, M.; Yuan, C. Z.; Yusa, Y.; Zhang, C. C.; Zhang, Z. P.; Zhilich, V.; Zhulanov, V.; Zupanc, A.

    2007-11-01

    We report the first search for CP-violating decays of the Υ(4S) using a data sample that contains 535×106 Υ(4S) mesons with the Belle detector at the KEKB asymmetric-energy e+e- collider. A partial reconstruction technique is employed to enhance the signal sensitivity. No significant signals were observed. We obtain an upper limit of 4×10-7 at the 90% confidence level for the branching fractions of the CP violating modes, Υ(4S)→B0B¯0→J/ψKS0+J/ψ(ηc)KS0. Extrapolating the result, we find that an observation with 5σ significance is expected with a 30ab-1 data sample, which is within the reach of a future super B factory.

  20. Expression of Estrogen Receptors Alpha (ER-α), Beta (ER-β), and G Protein-Coupled Receptor 30 (GPR30) in Testicular Tissue of Men with Klinefelter Syndrome.

    PubMed

    Bernardino, R L; Alves, M G; Silva, J; Barros, A; Ferraz, L; Sousa, M; Sá, R; Oliveira, P F

    2016-06-01

    Men with Klinefelter syndrome (KS) present severe hormonal dysregulation, particularly elevated serum estradiol concentration. Estrogens act through specific receptors and regulate testes development and spermatogenesis. Herein, we evaluated GPR30, ERα, and ERβ mRNA expression in testis of KS men and men with 46XY karyotype by reverse transcriptase and quantitative PCR. ERβ transcripts are the most abundant in testicular tissue of 46XY men. Notably, testicular GPR30 transcription in KS men was approximately 12 times higher. Since GPR30 is essential to mediate estrogen effects over steroidogenesis, our data illustrate that GPR30 may underpin the testicular alterations observed in KS men. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Cancer incidence in men with Klinefelter syndrome.

    PubMed Central

    Hasle, H.; Mellemgaard, A.; Nielsen, J.; Hansen, J.

    1995-01-01

    Many case reports have suggested an association between Klinefelter syndrome (KS) and cancer, but studies of the cancer incidence in larger groups of men with KS are lacking. A cohort of 696 men with KS was established from the Danish Cytogenetic Register. Information on the cancer incidence in the cohort was obtained from the Danish Cancer Registry and compared with the expected number calculated from the age, period and site specific cancer rates for Danish men. A total of 39 neoplasms were diagnosed (relative risk = 1.1). Four mediastinal tumours were observed (relative risk = 67); all four were malignant germ cell tumours. No cases of breast cancer or testis cancer were observed. One case of prostate cancer occurred within a previously irradiated field. No excess of leukaemia or lymphoma was found. An increased risk of cancer occurred in the age group 15-30 years (relative risk = 2.7). All six tumours in this group were germ cell tumours or sarcomas. The overall cancer incidence is not increased and no routine cancer screening seems to be justified. A considerably elevated risk of mediastinal germ cell tumours occurs in the period from early adolescence until the age of 30. PMID:7841064

  2. Observation of B_{s}^{0}→D[over ¯]^{0}K_{S}^{0} and Evidence for B_{s}^{0}→D[over ¯]^{*}^{0}K_{S}^{0} Decays.

    PubMed

    Aaij, R; Abellán Beteta, C; Adeva, B; Adinolfi, M; Affolder, A; Ajaltouni, Z; Akar, S; Albrecht, J; Alessio, F; Alexander, M; Ali, S; Alkhazov, G; Alvarez Cartelle, P; Alves, A A; Amato, S; Amerio, S; Amhis, Y; An, L; Anderlini, L; Andreassi, G; Andreotti, M; Andrews, J E; Appleby, R B; Aquines Gutierrez, O; Archilli, F; d'Argent, P; Artamonov, A; Artuso, M; Aslanides, E; Auriemma, G; Baalouch, M; Bachmann, S; Back, J J; Badalov, A; Baesso, C; Baldini, W; Barlow, R J; Barschel, C; Barsuk, S; Barter, W; Batozskaya, V; Battista, V; Bay, A; Beaucourt, L; Beddow, J; Bedeschi, F; Bediaga, I; Bel, L J; Bellee, V; Belloli, N; Belyaev, I; Ben-Haim, E; Bencivenni, G; Benson, S; Benton, J; Berezhnoy, A; Bernet, R; Bertolin, A; Bettler, M-O; van Beuzekom, M; Bifani, S; Billoir, P; Bird, T; Birnkraut, A; Bizzeti, A; Blake, T; Blanc, F; Blouw, J; Blusk, S; Bocci, V; Bondar, A; Bondar, N; Bonivento, W; Borghi, S; Borisyak, M; Borsato, M; Bowcock, T J V; Bowen, E; Bozzi, C; Braun, S; Britsch, M; Britton, T; Brodzicka, J; Brook, N H; Buchanan, E; Burr, C; Bursche, A; Buytaert, J; Cadeddu, S; Calabrese, R; Calvi, M; Calvo Gomez, M; Campana, P; Campora Perez, D; Capriotti, L; Carbone, A; Carboni, G; Cardinale, R; Cardini, A; Carniti, P; Carson, L; Carvalho Akiba, K; Casse, G; Cassina, L; Castillo Garcia, L; Cattaneo, M; Cauet, Ch; Cavallero, G; Cenci, R; Charles, M; Charpentier, Ph; Chatzikonstantinidis, G; Chefdeville, M; Chen, S; Cheung, S-F; Chiapolini, N; Chrzaszcz, M; Cid Vidal, X; Ciezarek, G; Clarke, P E L; Clemencic, M; Cliff, H V; Closier, J; Coco, V; Cogan, J; Cogneras, E; Cogoni, V; Cojocariu, L; Collazuol, G; Collins, P; Comerma-Montells, A; Contu, A; Cook, A; Coombes, M; Coquereau, S; Corti, G; Corvo, M; Couturier, B; Cowan, G A; Craik, D C; Crocombe, A; Cruz Torres, M; Cunliffe, S; Currie, R; D'Ambrosio, C; Dall'Occo, E; Dalseno, J; David, P N Y; Davis, A; De Aguiar Francisco, O; De Bruyn, K; De Capua, S; De Cian, M; De Miranda, J M; De Paula, L; De Simone, P; Dean, C-T; Decamp, D; Deckenhoff, M; Del Buono, L; Déléage, N; Demmer, M; Derkach, D; Deschamps, O; Dettori, F; Dey, B; Di Canto, A; Di Ruscio, F; Dijkstra, H; Donleavy, S; Dordei, F; Dorigo, M; Dosil Suárez, A; Dovbnya, A; Dreimanis, K; Dufour, L; Dujany, G; Dungs, K; Durante, P; Dzhelyadin, R; Dziurda, A; Dzyuba, A; Easo, S; Egede, U; Egorychev, V; Eidelman, S; Eisenhardt, S; Eitschberger, U; Ekelhof, R; Eklund, L; El Rifai, I; Elsasser, Ch; Ely, S; Esen, S; Evans, H M; Evans, T; Falabella, A; Färber, C; Farley, N; Farry, S; Fay, R; Ferguson, D; Fernandez Albor, V; Ferrari, F; Ferreira Rodrigues, F; Ferro-Luzzi, M; Filippov, S; Fiore, M; Fiorini, M; Firlej, M; Fitzpatrick, C; Fiutowski, T; Fleuret, F; Fohl, K; Fol, P; Fontana, M; Fontanelli, F; Forshaw, D C; Forty, R; Frank, M; Frei, C; Frosini, M; Fu, J; Furfaro, E; Gallas Torreira, A; Galli, D; Gallorini, S; Gambetta, S; Gandelman, M; Gandini, P; Gao, Y; García Pardiñas, J; Garra Tico, J; Garrido, L; Gascon, D; Gaspar, C; Gauld, R; Gavardi, L; Gazzoni, G; Gerick, D; Gersabeck, E; Gersabeck, M; Gershon, T; Ghez, Ph; Gianì, S; Gibson, V; Girard, O G; Giubega, L; Gligorov, V V; Göbel, C; Golubkov, D; Golutvin, A; Gomes, A; Gotti, C; Grabalosa Gándara, M; Graciani Diaz, R; Granado Cardoso, L A; Graugés, E; Graverini, E; Graziani, G; Grecu, A; Greening, E; Griffith, P; Grillo, L; Grünberg, O; Gui, B; Gushchin, E; Guz, Yu; Gys, T; Hadavizadeh, T; Hadjivasiliou, C; Haefeli, G; Haen, C; Haines, S C; Hall, S; Hamilton, B; Han, X; Hansmann-Menzemer, S; Harnew, N; Harnew, S T; Harrison, J; He, J; Head, T; Heijne, V; Heister, A; Hennessy, K; Henrard, P; Henry, L; Hernando Morata, J A; van Herwijnen, E; Heß, M; Hicheur, A; Hill, D; Hoballah, M; Hombach, C; Hulsbergen, W; Humair, T; Hushchyn, M; Hussain, N; Hutchcroft, D; Hynds, D; Idzik, M; Ilten, P; Jacobsson, R; Jaeger, A; Jalocha, J; Jans, E; Jawahery, A; John, M; Johnson, D; Jones, C R; Joram, C; Jost, B; Jurik, N; Kandybei, S; Kanso, W; Karacson, M; Karbach, T M; Karodia, S; Kecke, M; Kelsey, M; Kenyon, I R; Kenzie, M; Ketel, T; Khairullin, E; Khanji, B; Khurewathanakul, C; Kirn, T; Klaver, S; Klimaszewski, K; Kochebina, O; Kolpin, M; Komarov, I; Koopman, R F; Koppenburg, P; Kozeiha, M; Kravchuk, L; Kreplin, K; Kreps, M; Krokovny, P; Kruse, F; Krzemien, W; Kucewicz, W; Kucharczyk, M; Kudryavtsev, V; Kuonen, A K; Kurek, K; Kvaratskheliya, T; Lacarrere, D; Lafferty, G; Lai, A; Lambert, D; Lanfranchi, G; Langenbruch, C; Langhans, B; Latham, T; Lazzeroni, C; Le Gac, R; van Leerdam, J; Lees, J-P; Lefèvre, R; Leflat, A; Lefrançois, J; Lemos Cid, E; Leroy, O; Lesiak, T; Leverington, B; Li, Y; Likhomanenko, T; Liles, M; Lindner, R; Linn, C; Lionetto, F; Liu, B; Liu, X; Loh, D; Longstaff, I; Lopes, J H; Lucchesi, D; Lucio Martinez, M; Luo, H; Lupato, A; Luppi, E; Lupton, O; Lusardi, N; Lusiani, A; Machefert, F; Maciuc, F; Maev, O; Maguire, K; Malde, S; Malinin, A; Manca, G; Mancinelli, G; Manning, P; Mapelli, A; Maratas, J; Marchand, J F; Marconi, U; Marin Benito, C; Marino, P; Marks, J; Martellotti, G; Martin, M; Martinelli, M; Martinez Santos, D; Martinez Vidal, F; Martins Tostes, D; Massacrier, L M; Massafferri, A; Matev, R; Mathad, A; Mathe, Z; Matteuzzi, C; Mauri, A; Maurin, B; Mazurov, A; McCann, M; McCarthy, J; McNab, A; McNulty, R; Meadows, B; Meier, F; Meissner, M; Melnychuk, D; Merk, M; Michielin, E; Milanes, D A; Minard, M-N; Mitzel, D S; Molina Rodriguez, J; Monroy, I A; Monteil, S; Morandin, M; Morawski, P; Mordà, A; Morello, M J; Moron, J; Morris, A B; Mountain, R; Muheim, F; Müller, D; Müller, J; Müller, K; Müller, V; Mussini, M; Muster, B; Naik, P; Nakada, T; Nandakumar, R; Nandi, A; Nasteva, I; Needham, M; Neri, N; Neubert, S; Neufeld, N; Neuner, M; Nguyen, A D; Nguyen, T D; Nguyen-Mau, C; Niess, V; Niet, R; Nikitin, N; Nikodem, T; Novoselov, A; O'Hanlon, D P; Oblakowska-Mucha, A; Obraztsov, V; Ogilvy, S; Okhrimenko, O; Oldeman, R; Onderwater, C J G; Osorio Rodrigues, B; Otalora Goicochea, J M; Otto, A; Owen, P; Oyanguren, A; Palano, A; Palombo, F; Palutan, M; Panman, J; Papanestis, A; Pappagallo, M; Pappalardo, L L; Pappenheimer, C; Parker, W; Parkes, C; Passaleva, G; Patel, G D; Patel, M; Patrignani, C; Pearce, A; Pellegrino, A; Penso, G; Pepe Altarelli, M; Perazzini, S; Perret, P; Pescatore, L; Petridis, K; Petrolini, A; Petruzzo, M; Picatoste Olloqui, E; Pietrzyk, B; Pikies, M; Pinci, D; Pistone, A; Piucci, A; Playfer, S; Plo Casasus, M; Poikela, T; Polci, F; Poluektov, A; Polyakov, I; Polycarpo, E; Popov, A; Popov, D; Popovici, B; Potterat, C; Price, E; Price, J D; Prisciandaro, J; Pritchard, A; Prouve, C; Pugatch, V; Puig Navarro, A; Punzi, G; Qian, W; Quagliani, R; Rachwal, B; Rademacker, J H; Rama, M; Ramos Pernas, M; Rangel, M S; Raniuk, I; Rauschmayr, N; Raven, G; Redi, F; Reichert, S; Dos Reis, A C; Renaudin, V; Ricciardi, S; Richards, S; Rihl, M; Rinnert, K; Rives Molina, V; Robbe, P; Rodrigues, A B; Rodrigues, E; Rodriguez Lopez, J A; Rodriguez Perez, P; Roiser, S; Romanovsky, V; Romero Vidal, A; Ronayne, J W; Rotondo, M; Ruf, T; Ruiz Valls, P; Saborido Silva, J J; Sagidova, N; Saitta, B; Salustino Guimaraes, V; Sanchez Mayordomo, C; Sanmartin Sedes, B; Santacesaria, R; Santamarina Rios, C; Santimaria, M; Santovetti, E; Sarti, A; Satriano, C; Satta, A; Saunders, D M; Savrina, D; Schael, S; Schiller, M; Schindler, H; Schlupp, M; Schmelling, M; Schmelzer, T; Schmidt, B; Schneider, O; Schopper, A; Schubiger, M; Schune, M-H; Schwemmer, R; Sciascia, B; Sciubba, A; Semennikov, A; Serra, N; Serrano, J; Sestini, L; Seyfert, P; Shapkin, M; Shapoval, I; Shcheglov, Y; Shears, T; Shekhtman, L; Shevchenko, V; Shires, A; Siddi, B G; Silva Coutinho, R; Silva de Oliveira, L; Simi, G; Sirendi, M; Skidmore, N; Skwarnicki, T; Smith, E; Smith, E; Smith, I T; Smith, J; Smith, M; Snoek, H; Sokoloff, M D; Soler, F J P; Soomro, F; Souza, D; Souza De Paula, B; Spaan, B; Spradlin, P; Sridharan, S; Stagni, F; Stahl, M; Stahl, S; Stefkova, S; Steinkamp, O; Stenyakin, O; Stevenson, S; Stoica, S; Stone, S; Storaci, B; Stracka, S; Straticiuc, M; Straumann, U; Sun, L; Sutcliffe, W; Swientek, K; Swientek, S; Syropoulos, V; Szczekowski, M; Szumlak, T; T'Jampens, S; Tayduganov, A; Tekampe, T; Tellarini, G; Teubert, F; Thomas, C; Thomas, E; van Tilburg, J; Tisserand, V; Tobin, M; Todd, J; Tolk, S; Tomassetti, L; Tonelli, D; Topp-Joergensen, S; Torr, N; Tournefier, E; Tourneur, S; Trabelsi, K; Traill, M; Tran, M T; Tresch, M; Trisovic, A; Tsaregorodtsev, A; Tsopelas, P; Tuning, N; Ukleja, A; Ustyuzhanin, A; Uwer, U; Vacca, C; Vagnoni, V; Valenti, G; Vallier, A; Vazquez Gomez, R; Vazquez Regueiro, P; Vázquez Sierra, C; Vecchi, S; van Veghel, M; Velthuis, J J; Veltri, M; Veneziano, G; Vesterinen, M; Viaud, B; Vieira, D; Vieites Diaz, M; Vilasis-Cardona, X; Volkov, V; Vollhardt, A; Voong, D; Vorobyev, A; Vorobyev, V; Voß, C; de Vries, J A; Waldi, R; Wallace, C; Wallace, R; Walsh, J; Wang, J; Ward, D R; Watson, N K; Websdale, D; Weiden, A; Whitehead, M; Wicht, J; Wilkinson, G; Wilkinson, M; Williams, M; Williams, M P; Williams, M; Williams, T; Wilson, F F; Wimberley, J; Wishahi, J; Wislicki, W; Witek, M; Wormser, G; Wotton, S A; Wraight, K; Wright, S; Wyllie, K; Xie, Y; Xu, Z; Yang, Z; Yu, J; Yuan, X; Yushchenko, O; Zangoli, M; Zavertyaev, M; Zhang, L; Zhang, Y; Zhelezov, A; Zhokhov, A; Zhong, L; Zhukov, V; Zucchelli, S

    2016-04-22

    The first observation of the B_{s}^{0}→D[over ¯]^{0}K_{S}^{0} decay mode and evidence for the B_{s}^{0}→D[over ¯]^{*0}K_{S}^{0} decay mode are reported. The data sample corresponds to an integrated luminosity of 3.0  fb^{-1} collected in pp collisions by LHCb at center-of-mass energies of 7 and 8 TeV. The branching fractions are measured to be B(B_{s}^{0}→D[over ¯]^{0}K[over ¯]^{0})=[4.3±0.5(stat)±0.3(syst)±0.3(frag)±0.6(norm)]×10^{-4},B(B_{s}^{0}→D[over ¯]^{*0}K[over ¯]^{0})=[2.8±1.0(stat)±0.3(syst)±0.2(frag)±0.4(norm)]×10^{-4},where the uncertainties are due to contributions coming from statistical precision, systematic effects, and the precision of two external inputs, the ratio f_{s}/f_{d} and the branching fraction of B^{0}→D[over ¯]^{0}K_{S}^{0}, which is used as a calibration channel.

  3. A new limit on the CP violating decay KS → 3π0 with the KLOE experiment

    NASA Astrophysics Data System (ADS)

    Babusci, D.; Badoni, D.; Balwierz-Pytko, I.; Bencivenni, G.; Bini, C.; Bloise, C.; Bossi, F.; Branchini, P.; Budano, A.; Caldeira Balkeståhl, L.; Capon, G.; Ceradini, F.; Ciambrone, P.; Curciarello, F.; Czerwiński, E.; Danè, E.; De Leo, V.; De Lucia, E.; De Robertis, G.; De Santis, A.; Di Domenico, A.; Di Donato, C.; Di Salvo, R.; Domenici, D.; Erriquez, O.; Fanizzi, G.; Fantini, A.; Felici, G.; Fiore, S.; Franzini, P.; Gauzzi, P.; Giardina, G.; Giovannella, S.; Gonnella, F.; Graziani, E.; Happacher, F.; Heijkenskjöld, L.; Höistad, B.; Iafolla, L.; Jacewicz, M.; Johansson, T.; Kacprzak, K.; Kupsc, A.; Lee-Franzini, J.; Leverington, B.; Loddo, F.; Loffredo, S.; Mandaglio, G.; Martemianov, M.; Martini, M.; Mascolo, M.; Messi, R.; Miscetti, S.; Morello, G.; Moricciani, D.; Moskal, P.; Nguyen, F.; Passeri, A.; Patera, V.; Prado Longhi, I.; Ranieri, A.; Redmer, C. F.; Santangelo, P.; Sarra, I.; Schioppa, M.; Sciascia, B.; Silarski, M.; Taccini, C.; Tortora, L.; Venanzoni, G.; Wiślicki, W.; Wolke, M.; Zdebik, J.

    2013-06-01

    We have carried out a new direct search for the CP violating decay KS → 3π0 with 1.7 fb-1 of e+e- collisions collected by the KLOE detector at the Φ-factory DAΦNE. We have searched for this decay in a sample of about 5.9 ×108KSKL events tagging the KS by means of the KL interaction in the calorimeter and requiring six prompt photons. With respect to our previous search, the analysis has been improved by increasing of a factor four the tagged sample and by a more effective background rejection of fake KS tags and spurious clusters. We find no candidates in data and simulated background samples, while we expect 0.12 standard model events. Normalizing to the number of KS → 2π0 events in the same sample, we set the upper limit on BR (KS → 3π0) ⩽ 2.6 ×10-8 at 90% C.L., five times lower than the previous limit. We also set the upper limit on the η000 parameter, |η000 | ⩽ 0.0088 at 90% C.L., improving by a factor two the latest direct measurement.

  4. An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

    2009-01-01

    Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…

  5. KS-Detect – Validation of Solar Thermal PCR for the Diagnosis of Kaposi’s Sarcoma Using Pseudo-Biopsy Samples

    PubMed Central

    Snodgrass, Ryan; Gardner, Andrea; Jiang, Li; Fu, Cheng; Cesarman, Ethel; Erickson, David

    2016-01-01

    Resource-limited settings present unique engineering challenges for medical diagnostics. Diagnosis is often needed for those unable to reach central healthcare systems, making portability and independence from traditional energy infrastructure essential device parameters. In 2014, our group presented a microfluidic device that performed a solar-powered variant of the polymerase chain reaction, which we called solar thermal PCR. In this work, we expand on our previous effort by presenting an integrated, portable, solar thermal PCR system targeted towards the diagnosis of Kaposi’s sarcoma. We call this system KS-Detect, and we now report the system’s performance as a diagnostic tool using pseudo-biopsy samples made from varying concentrations of human lymphoma cell lines positive for the KS herpesvirus (KSHV). KS-Detect achieved 83% sensitivity and 70% specificity at high (≥10%) KSHV+ cell concentrations when diagnosing pseudo-biopsy samples by smartphone image. Using histology, we confirm that our prepared pseudo-biopsies contain similar KSHV+ cell concentrations as human biopsies positive for KS. Through our testing of samples derived from human cell lines, we validate KS-Detect as a viable, portable KS diagnostic tool, and we identify critical engineering considerations for future solar-thermal PCR devices. PMID:26799834

  6. Different profile of endothelial cell apoptosis in patients with Klinefelter's syndrome.

    PubMed

    Condorelli, R A; Calogero, A E; La Vignera, S

    2013-02-01

    The aim of this study was to evaluate the effects of testosterone (T) therapy on the sexual function of middle-aged patients with acquired pre-pubertal hypergonadotropic hypogonadism (HrHy) and patients with Klinefelter syndrome (KS). A selected series of 35 middle-aged hypogonadal patients, including those who had recently been observed during andrological counseling (extracted from our database) and had not yet begun hormonal treatment, was recruited for this evaluation. This series of patients included 20 patients with acquired prepubertal HrHy and 15 KS patients who were matched by age and body mass index. All patients underwent an andrological evaluation, which included the administration of the International Index of Erectile Function 5 (IIEF-5) questionnaire and the evaluation of penile echo color Doppler. In addition, by flow cytometry we evaluated the serum levels of apoptotic endothelial microparticles (EMPa) and the vitronectin receptor (VR) at baseline and 6 months after the onset of T therapy. After 6 months of T therapy, patients with HrHy demonstrated mean IIEF-5 scores and a peak systolic velocity that were significantly greater and a mean acceleration time that was significantly lower (p<0.05) than those of patients with KS (p<0.05). In addition, patients with HrHy showed mean EMPa values and VR serum concentrations that were significantly lower than those of patients with KS (p<0.05). KS patients showed significantly improved IIEF-5 scores and Doppler parameters (p<0.05) but not EMPa or VR serum concentrations following treatment. These results indicate that erectile dysfunction in KS can improve with T therapy, although this improvement is more profound in HrHy patients, and these results also suggest that T therapy does not improve the severity of endothelial cell apoptosis in KS patients.

  7. Nailfold capillaroscopic changes in Kindler syndrome.

    PubMed

    Dobrev, Hristo P; Vutova, Nina I

    2015-11-01

    Kindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development of marked photosensitivity and progressive poikilodermatous skin changes in later years. We reported here the case of a 54-year-old woman, who fulfills the diagnostic criteria of KS type of HEB, putting accent on the nailfold capillaroscopic changes. Using videocapillaroscopy we observed pronounced alterations in finger nail capillaries including reduction in capillary density, features of neoangiogenesis (architectural derangement, elongated loops, extremely tortuous, bushy or branching capillaries, thin, branching and interconnected capillaries), enlarged and giant capillaries. We consider the changes observed as an adaptive mechanism that compensate the loss of capillaries due to chronic periungual trauma. Further studies with larger number of patients are needed to confirm the significance of capillaroscopy findings for patients with HEB.

  8. Interaction between emotion and memory: importance of mammillary bodies damage in a mouse model of the alcoholic Korsakoff syndrome.

    PubMed

    Béracochéa, Daniel

    2005-01-01

    Chronic alcohol consumption (CAC) can lead to the Korsakoff syndrome (KS), a memory deficiency attributed to diencephalic damage and/or to medial temporal or cortical related dysfunction. The etiology of KS remains unclear. Most animal models of KS involve thiamine-deficient diets associated with pyrithiamine treatment. Here we present a mouse model of CAC-induced KS. We demonstrate that CAC-generated retrieval memory deficits in working/ episodic memory tasks, together with a reduction of fear reactivity, result from damage to the mammillary bodies (MB). Experimental lesions of MB in non-alcoholic mice produced the same memory and emotional impairments. Drugs having anxiogenic-like properties counteract such impairments produced by CAC or by MB lesions. We suggest (a) that MB are the essential components of a brain network underlying emotional processes, which would be critically important in the retrieval processes involved in working/ episodic memory tasks, and (b) that failure to maintain emotional arousal due to MB damage can be a main factor of CAC-induced memory deficits. Overall, our animal model fits well with general neuropsychological and anatomic impairments observed in KS.

  9. Interaction Between Emotion and Memory: Importance of Mammillary Bodies Damage in a Mouse Model of the Alcoholic Korsakoff Syndrome

    PubMed Central

    Béracochéa, Daniel

    2005-01-01

    Chronic alcohol consumption (CAC) can lead to the Korsakoff syndrome (KS), a memory deficiency attributed to diencephalie damage and/or to medial temporal or cortical related dysfunction. The etiology of KS remains unclear. Most animal models of KS involve thiaminedeficient diets associated with pyrithiamine treatment. Here we present a mouse model of CAC-induced KS. We demonstrate that CAC-generated retrieval memory deficits in working/ episodic memory tasks, together with a reduction of fear reactivity, result from damage to the mammillary bodies (MB). Experimental lesions of MB in non-alcoholic mice produced the same memory and emotional impairments. Drugs having anxiogenic-like properties counteract such impairments produced by CAC or by MB lesions. We suggest (a) that MB are the essential components of a brain network underlying emotional processes, which would be critically important in the retrieval processes involved in working/ episodic memory tasks, and (b) that failure to maintain emotional arousal due to MB damage can be a main factor of CAC-induced memory deficits. Overall, our animal model fits well with general neuropsychological and anatomic impairments observed in KS. PMID:16444899

  10. Heavier alkali-metal monosulfides (KS, RbS, CsS, and FrS) and their cations.

    PubMed

    Lee, Edmond P F; Wright, Timothy G

    2005-10-08

    The heavier alkali-metal monosulfides (KS, RbS, CsS, and FrS) have been studied by high-level ab initio calculations. The RCCSD(T) method has been employed, combined with large flexible valence basis sets. All-electron basis sets are used for potassium and sulfur, with effective core potentials being used for the other metals, describing the core electrons. Potential-energy curves are calculated for the lowest two neutral and cationic states: all neutral monosulfide species have a (2)Pi ground state, in contrast with the alkali-metal monoxide species, which undergo a change in the electronic ground state from (2)Pi to (2)Sigma(+) as the group is descended. In the cases of KS, RbS, and CsS, spin-orbit curves are also calculated. We also calculate potential-energy curves for the lowest (3)Sigma(-) and (3)Pi states of the cations. From the potential-energy curves, spectroscopic constants are derived, and for KS the spectroscopic results are compared to experimental spectroscopic values. Ionization energies, dissociation energies, and heats of formation are also calculated; for KS, we explore the effects of relativity and basis set extrapolation on these values.

  11. Studies of the resonance structure in D0→KS0K±π∓ decays

    NASA Astrophysics Data System (ADS)

    Aaij, R.; Adeva, B.; Adinolfi, M.; Affolder, A.; Ajaltouni, Z.; Akar, S.; Albrecht, J.; Alessio, F.; Alexander, M.; Ali, S.; Alkhazov, G.; Alvarez Cartelle, P.; Alves, A. A.; Amato, S.; Amerio, S.; Amhis, Y.; An, L.; Anderlini, L.; Anderson, J.; Andreassi, G.; Andreotti, M.; Andrews, J. E.; Appleby, R. B.; Aquines Gutierrez, O.; Archilli, F.; d'Argent, P.; Artamonov, A.; Artuso, M.; Aslanides, E.; Auriemma, G.; Baalouch, M.; Bachmann, S.; Back, J. J.; Badalov, A.; Baesso, C.; Baldini, W.; Barlow, R. J.; Barschel, C.; Barsuk, S.; Barter, W.; Batozskaya, V.; Battista, V.; Bay, A.; Beaucourt, L.; Beddow, J.; Bedeschi, F.; Bediaga, I.; Bel, L. J.; Bellee, V.; Belyaev, I.; Ben-Haim, E.; Bencivenni, G.; Benson, S.; Benton, J.; Berezhnoy, A.; Bernet, R.; Bertolin, A.; Bettler, M.-O.; van Beuzekom, M.; Bien, A.; Bifani, S.; Bird, T.; Birnkraut, A.; Bizzeti, A.; Blake, T.; Blanc, F.; Blouw, J.; Blusk, S.; Bocci, V.; Bondar, A.; Bondar, N.; Bonivento, W.; Borghi, S.; Borsato, M.; Bowcock, T. J. V.; Bowen, E.; Bozzi, C.; Braun, S.; Brett, D.; Britsch, M.; Britton, T.; Brodzicka, J.; Brook, N. H.; Buchanan, E.; Bursche, A.; Buytaert, J.; Cadeddu, S.; Calabrese, R.; Calvi, M.; Calvo Gomez, M.; Campana, P.; Campora Perez, D.; Capriotti, L.; Carbone, A.; Carboni, G.; Cardinale, R.; Cardini, A.; Carniti, P.; Carson, L.; Carvalho Akiba, K.; Casse, G.; Cassina, L.; Castillo Garcia, L.; Cattaneo, M.; Cauet, Ch.; Cavallero, G.; Cenci, R.; Charles, M.; Charpentier, Ph.; Chefdeville, M.; Chen, S.; Cheung, S.-F.; Chiapolini, N.; Chrzaszcz, M.; Cid Vidal, X.; Ciezarek, G.; Clarke, P. E. L.; Clemencic, M.; Cliff, H. V.; Closier, J.; Coco, V.; Cogan, J.; Cogneras, E.; Cogoni, V.; Cojocariu, L.; Collazuol, G.; Collins, P.; Comerma-Montells, A.; Contu, A.; Cook, A.; Coombes, M.; Coquereau, S.; Corti, G.; Corvo, M.; Couturier, B.; Cowan, G. A.; Craik, D. C.; Crocombe, A.; Cruz Torres, M.; Cunliffe, S.; Currie, R.; D'Ambrosio, C.; Dall'Occo, E.; Dalseno, J.; David, P. N. Y.; Davis, A.; De Aguiar Francisco, O.; De Bruyn, K.; De Capua, S.; De Cian, M.; De Miranda, J. M.; De Paula, L.; De Simone, P.; Dean, C.-T.; Decamp, D.; Deckenhoff, M.; Del Buono, L.; Déléage, N.; Demmer, M.; Derkach, D.; Deschamps, O.; Dettori, F.; Dey, B.; Di Canto, A.; Di Ruscio, F.; Dijkstra, H.; Donleavy, S.; Dordei, F.; Dorigo, M.; Dosil Suárez, A.; Dossett, D.; Dovbnya, A.; Dreimanis, K.; Dufour, L.; Dujany, G.; Dupertuis, F.; Durante, P.; Dzhelyadin, R.; Dziurda, A.; Dzyuba, A.; Easo, S.; Egede, U.; Egorychev, V.; Eidelman, S.; Eisenhardt, S.; Eitschberger, U.; Ekelhof, R.; Eklund, L.; El Rifai, I.; Elsasser, Ch.; Ely, S.; Esen, S.; Evans, H. M.; Evans, T.; Falabella, A.; Färber, C.; Farinelli, C.; Farley, N.; Farry, S.; Fay, R.; Ferguson, D.; Fernandez Albor, V.; Ferrari, F.; Ferreira Rodrigues, F.; Ferro-Luzzi, M.; Filippov, S.; Fiore, M.; Fiorini, M.; Firlej, M.; Fitzpatrick, C.; Fiutowski, T.; Fohl, K.; Fol, P.; Fontana, M.; Fontanelli, F.; Forty, R.; Frank, M.; Frei, C.; Frosini, M.; Fu, J.; Furfaro, E.; Gallas Torreira, A.; Galli, D.; Gallorini, S.; Gambetta, S.; Gandelman, M.; Gandini, P.; Gao, Y.; García Pardiñas, J.; Garra Tico, J.; Garrido, L.; Gascon, D.; Gaspar, C.; Gauld, R.; Gavardi, L.; Gazzoni, G.; Gerick, D.; Gersabeck, E.; Gersabeck, M.; Gershon, T.; Ghez, Ph.; Gianı, S.; Gibson, V.; Girard, O. G.; Giubega, L.; Gligorov, V. V.; Göbel, C.; Golubkov, D.; Golutvin, A.; Gomes, A.; Gotti, C.; Grabalosa Gándara, M.; Graciani Diaz, R.; Granado Cardoso, L. A.; Graugés, E.; Graverini, E.; Graziani, G.; Grecu, A.; Greening, E.; Gregson, S.; Griffith, P.; Grillo, L.; Grünberg, O.; Gui, B.; Gushchin, E.; Guz, Yu.; Gys, T.; Hadavizadeh, T.; Hadjivasiliou, C.; Haefeli, G.; Haen, C.; Haines, S. C.; Hall, S.; Hamilton, B.; Han, X.; Hansmann-Menzemer, S.; Harnew, N.; Harnew, S. T.; Harrison, J.; He, J.; Head, T.; Heijne, V.; Hennessy, K.; Henrard, P.; Henry, L.; van Herwijnen, E.; Heß, M.; Hicheur, A.; Hill, D.; Hoballah, M.; Hombach, C.; Hulsbergen, W.; Humair, T.; Hussain, N.; Hutchcroft, D.; Hynds, D.; Idzik, M.; Ilten, P.; Jacobsson, R.; Jaeger, A.; Jalocha, J.; Jans, E.; Jawahery, A.; Jing, F.; John, M.; Johnson, D.; Jones, C. R.; Joram, C.; Jost, B.; Jurik, N.; Kandybei, S.; Kanso, W.; Karacson, M.; Karbach, T. M.; Karodia, S.; Kecke, M.; Kelsey, M.; Kenyon, I. R.; Kenzie, M.; Ketel, T.; Khanji, B.; Khurewathanakul, C.; Klaver, S.; Klimaszewski, K.; Kochebina, O.; Kolpin, M.; Komarov, I.; Koopman, R. F.; Koppenburg, P.; Kozeiha, M.; Kravchuk, L.; Kreplin, K.; Kreps, M.; Krocker, G.; Krokovny, P.; Kruse, F.; Kucewicz, W.; Kucharczyk, M.; Kudryavtsev, V.; Kuonen, A. K.; Kurek, K.; Kvaratskheliya, T.; Lacarrere, D.; Lafferty, G.; Lai, A.; Lambert, D.; Lanfranchi, G.; Langenbruch, C.; Langhans, B.; Latham, T.; Lazzeroni, C.; Le Gac, R.; van Leerdam, J.; Lees, J.-P.; Lefèvre, R.; Leflat, A.; Lefrançois, J.; Leroy, O.; Lesiak, T.; Leverington, B.; Li, Y.; Likhomanenko, T.; Liles, M.; Lindner, R.; Linn, C.; Lionetto, F.; Liu, B.; Liu, X.; Loh, D.; Lohn, S.; Longstaff, I.; Lopes, J. H.; Lucchesi, D.; Lucio Martinez, M.; Luo, H.; Lupato, A.; Luppi, E.; Lupton, O.; Lusiani, A.; Machefert, F.; Maciuc, F.; Maev, O.; Maguire, K.; Malde, S.; Malinin, A.; Manca, G.; Mancinelli, G.; Manning, P.; Mapelli, A.; Maratas, J.; Marchand, J. F.; Marconi, U.; Marin Benito, C.; Marino, P.; Märki, R.; Marks, J.; Martellotti, G.; Martin, M.; Martinelli, M.; Martinez Santos, D.; Martinez Vidal, F.; Martins Tostes, D.; Massafferri, A.; Matev, R.; Mathad, A.; Mathe, Z.; Matteuzzi, C.; Mauri, A.; Maurin, B.; Mazurov, A.; McCann, M.; McCarthy, J.; McNab, A.; McNulty, R.; Meadows, B.; Meier, F.; Meissner, M.; Melnychuk, D.; Merk, M.; Michielin, E.; Milanes, D. A.; Minard, M.-N.; Mitzel, D. S.; Molina Rodriguez, J.; Monroy, I. A.; Monteil, S.; Morandin, M.; Morawski, P.; Mordà, A.; Morello, M. J.; Moron, J.; Morris, A. B.; Mountain, R.; Muheim, F.; Müller, D.; Müller, J.; Müller, K.; Müller, V.; Mussini, M.; Muster, B.; Naik, P.; Nakada, T.; Nandakumar, R.; Nandi, A.; Nasteva, I.; Needham, M.; Neri, N.; Neubert, S.; Neufeld, N.; Neuner, M.; Nguyen, A. D.; Nguyen, T. D.; Nguyen-Mau, C.; Niess, V.; Niet, R.; Nikitin, N.; Nikodem, T.; Novoselov, A.; O'Hanlon, D. P.; Oblakowska-Mucha, A.; Obraztsov, V.; Ogilvy, S.; Okhrimenko, O.; Oldeman, R.; Onderwater, C. J. G.; Osorio Rodrigues, B.; Otalora Goicochea, J. M.; Otto, A.; Owen, P.; Oyanguren, A.; Palano, A.; Palombo, F.; Palutan, M.; Panman, J.; Papanestis, A.; Pappagallo, M.; Pappalardo, L. L.; Pappenheimer, C.; Parkes, C.; Passaleva, G.; Patel, G. D.; Patel, M.; Patrignani, C.; Pearce, A.; Pellegrino, A.; Penso, G.; Pepe Altarelli, M.; Perazzini, S.; Perret, P.; Pescatore, L.; Petridis, K.; Petrolini, A.; Petruzzo, M.; Picatoste Olloqui, E.; Pietrzyk, B.; Pilař, T.; Pinci, D.; Pistone, A.; Piucci, A.; Playfer, S.; Plo Casasus, M.; Poikela, T.; Polci, F.; Poluektov, A.; Polyakov, I.; Polycarpo, E.; Popov, A.; Popov, D.; Popovici, B.; Potterat, C.; Price, E.; Price, J. D.; Prisciandaro, J.; Pritchard, A.; Prouve, C.; Pugatch, V.; Puig Navarro, A.; Punzi, G.; Qian, W.; Quagliani, R.; Rachwal, B.; Rademacker, J. H.; Rama, M.; Rangel, M. S.; Raniuk, I.; Rauschmayr, N.; Raven, G.; Redi, F.; Reichert, S.; Reid, M. M.; dos Reis, A. C.; Ricciardi, S.; Richards, S.; Rihl, M.; Rinnert, K.; Rives Molina, V.; Robbe, P.; Rodrigues, A. B.; Rodrigues, E.; Rodriguez Lopez, J. A.; Rodriguez Perez, P.; Roiser, S.; Romanovsky, V.; Romero Vidal, A.; Ronayne, J. W.; Rotondo, M.; Rouvinet, J.; Ruf, T.; Ruiz, H.; Ruiz Valls, P.; Saborido Silva, J. J.; Sagidova, N.; Sail, P.; Saitta, B.; Salustino Guimaraes, V.; Sanchez Mayordomo, C.; Sanmartin Sedes, B.; Santacesaria, R.; Santamarina Rios, C.; Santimaria, M.; Santovetti, E.; Sarti, A.; Satriano, C.; Satta, A.; Saunders, D. M.; Savrina, D.; Schiller, M.; Schindler, H.; Schlupp, M.; Schmelling, M.; Schmelzer, T.; Schmidt, B.; Schneider, O.; Schopper, A.; Schubiger, M.; Schune, M.-H.; Schwemmer, R.; Sciascia, B.; Sciubba, A.; Semennikov, A.; Serra, N.; Serrano, J.; Sestini, L.; Seyfert, P.; Shapkin, M.; Shapoval, I.; Shcheglov, Y.; Shears, T.; Shekhtman, L.; Shevchenko, V.; Shires, A.; Siddi, B. G.; Silva Coutinho, R.; Silva de Oliveira, L.; Simi, G.; Sirendi, M.; Skidmore, N.; Skwarnicki, T.; Smith, E.; Smith, E.; Smith, I. T.; Smith, J.; Smith, M.; Snoek, H.; Sokoloff, M. D.; Soler, F. J. P.; Soomro, F.; Souza, D.; Souza De Paula, B.; Spaan, B.; Spradlin, P.; Sridharan, S.; Stagni, F.; Stahl, M.; Stahl, S.; Steinkamp, O.; Stenyakin, O.; Sterpka, F.; Stevenson, S.; Stoica, S.; Stone, S.; Storaci, B.; Stracka, S.; Straticiuc, M.; Straumann, U.; Sun, L.; Sutcliffe, W.; Swientek, K.; Swientek, S.; Syropoulos, V.; Szczekowski, M.; Szczypka, P.; Szumlak, T.; T'Jampens, S.; Tayduganov, A.; Tekampe, T.; Teklishyn, M.; Tellarini, G.; Teubert, F.; Thomas, C.; Thomas, E.; van Tilburg, J.; Tisserand, V.; Tobin, M.; Todd, J.; Tolk, S.; Tomassetti, L.; Tonelli, D.; Topp-Joergensen, S.; Torr, N.; Tournefier, E.; Tourneur, S.; Trabelsi, K.; Tran, M. T.; Tresch, M.; Trisovic, A.; Tsaregorodtsev, A.; Tsopelas, P.; Tuning, N.; Ukleja, A.; Ustyuzhanin, A.; Uwer, U.; Vacca, C.; Vagnoni, V.; Valenti, G.; Vallier, A.; Vazquez Gomez, R.; Vazquez Regueiro, P.; Vázquez Sierra, C.; Vecchi, S.; Velthuis, J. J.; Veltri, M.; Veneziano, G.; Vesterinen, M.; Viaud, B.; Vieira, D.; Vieites Diaz, M.; Vilasis-Cardona, X.; Volkov, V.; Vollhardt, A.; Volyanskyy, D.; Voong, D.; Vorobyev, A.; Vorobyev, V.; Voß, C.; de Vries, J. A.; Waldi, R.; Wallace, C.; Wallace, R.; Walsh, J.; Wandernoth, S.; Wang, J.; Ward, D. R.; Watson, N. K.; Websdale, D.; Weiden, A.; Whitehead, M.; Wilkinson, G.; Wilkinson, M.; Williams, M.; Williams, M. P.; Williams, M.; Williams, T.; Wilson, F. F.; Wimberley, J.; Wishahi, J.; Wislicki, W.; Witek, M.; Wormser, G.; Wotton, S. A.; Wright, S.; Wyllie, K.; Xie, Y.; Xu, Z.; Yang, Z.; Yu, J.; Yuan, X.; Yushchenko, O.; Zangoli, M.; Zavertyaev, M.; Zhang, L.; Zhang, Y.; Zhelezov, A.; Zhokhov, A.; Zhong, L.; Zucchelli, S.; LHCb Collaboration

    2016-03-01

    Amplitude models are applied to studies of resonance structure in D0→KS0K-π+ and D0→KS0K+π- decays using p p collision data corresponding to an integrated luminosity of 3.0 fb-1 collected by the LHCb experiment. Relative magnitude and phase information is determined, and coherence factors and related observables are computed for both the whole phase space and a restricted region of 100 MeV /c2 around the K*(892 )± resonance. Two formulations for the K π S -wave are used, both of which give a good description of the data. The ratio of branching fractions B (D0→KS0K+π- )/B (D0→KS0K-π+ ) is measured to be 0.655 ±0.004 (stat ) ±0.006 (syst ) over the full phase space and 0.370 ±0.003 (stat ) ±0.012 (syst ) in the restricted region. A search for C P violation is performed using the amplitude models and no significant effect is found. Predictions from SU(3) flavor symmetry for K*(892 ) K amplitudes of different charges are compared with the amplitude model results.

  12. Study of KS0 pair production in single-tag two-photon collisions

    NASA Astrophysics Data System (ADS)

    Masuda, M.; Uehara, S.; Watanabe, Y.; Adachi, I.; Ahn, J. K.; Aihara, H.; Al Said, S.; Asner, D. M.; Atmacan, H.; Aulchenko, V.; Aushev, T.; Ayad, R.; Babu, V.; Badhrees, I.; Bansal, V.; Behera, P.; Berger, M.; Bhardwaj, V.; Bhuyan, B.; Biswal, J.; Bondar, A.; Bonvicini, G.; Bozek, A.; Bračko, M.; Červenkov, D.; Chen, A.; Cheon, B. G.; Chilikin, K.; Cho, K.; Choi, Y.; Choudhury, S.; Cinabro, D.; Czank, T.; Dash, N.; Di Carlo, S.; Doležal, Z.; Drásal, Z.; Dutta, D.; Eidelman, S.; Epifanov, D.; Fast, J. E.; Ferber, T.; Fulsom, B. G.; Garg, R.; Gaur, V.; Gabyshev, N.; Garmash, A.; Gelb, M.; Giri, A.; Goldenzweig, P.; Guido, E.; Haba, J.; Hayasaka, K.; Hayashii, H.; Hedges, M. T.; Hou, W.-S.; Iijima, T.; Inami, K.; Inguglia, G.; Ishikawa, A.; Itoh, R.; Iwasaki, M.; Iwasaki, Y.; Jacobs, W. W.; Jaegle, I.; Jin, Y.; Joo, K. K.; Julius, T.; Kang, K. H.; Karyan, G.; Kawasaki, T.; Kichimi, H.; Kiesling, C.; Kim, D. Y.; Kim, H. J.; Kim, J. B.; Kim, K. T.; Kim, S. H.; Kodyš, P.; Kotchetkov, D.; Križan, P.; Kroeger, R.; Krokovny, P.; Kulasiri, R.; Kuzmin, A.; Kwon, Y.-J.; Lee, I. S.; Lee, S. C.; Li, L. K.; Li, Y.; Li Gioi, L.; Libby, J.; Liventsev, D.; Lubej, M.; Luo, T.; Matsuda, T.; Matvienko, D.; Merola, M.; Miyabayashi, K.; Miyata, H.; Mizuk, R.; Mohanty, G. B.; Moon, H. K.; Mori, T.; Mussa, R.; Nakao, M.; Nakazawa, H.; Nanut, T.; Nath, K. J.; Natkaniec, Z.; Nayak, M.; Niiyama, M.; Nisar, N. K.; Nishida, S.; Ogawa, S.; Okuno, S.; Ono, H.; Onuki, Y.; Pakhlov, P.; Pakhlova, G.; Pal, B.; Park, H.; Paul, S.; Pedlar, T. K.; Pestotnik, R.; Piilonen, L. E.; Ritter, M.; Rostomyan, A.; Russo, G.; Sakai, Y.; Salehi, M.; Sandilya, S.; Santelj, L.; Sanuki, T.; Savinov, V.; Schneider, O.; Schnell, G.; Schwanda, C.; Seidl, R.; Seino, Y.; Senyo, K.; Seon, O.; Sevior, M. E.; Shebalin, V.; Shen, C. P.; Shibata, T.-A.; Shimizu, N.; Shiu, J.-G.; Shwartz, B.; Sokolov, A.; Solovieva, E.; Starič, M.; Strube, J. F.; Sumihama, M.; Sumiyoshi, T.; Takizawa, M.; Tamponi, U.; Tanida, K.; Tenchini, F.; Teramoto, Y.; Uchida, M.; Uglov, T.; Unno, Y.; Uno, S.; Urquijo, P.; Van Hulse, C.; Varner, G.; Vinokurova, A.; Vorobyev, V.; Vossen, A.; Wang, B.; Wang, C. H.; Wang, M.-Z.; Wang, P.; Wang, X. L.; Watanabe, M.; Widmann, E.; Won, E.; Ye, H.; Yuan, C. Z.; Yusa, Y.; Zakharov, S.; Zhang, Z. P.; Zhilich, V.; Zhukova, V.; Zhulanov, V.; Zupanc, A.; Belle Collaboration

    2018-03-01

    We report a measurement of the cross section for KS0 pair production in single-tag two-photon collisions, γ*γ →KS0KS0, for Q2 up to 30 GeV2 , where Q2 is the negative of the invariant mass squared of the tagged photon. The measurement covers the kinematic range 1.0 GeV

  13. 78 FR 67295 - Amendment of Class E Airspace; Washington, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-12

    ... Airport has made reconfiguration necessary for standard instrument approach procedures and for the safety and management of Instrument Flight Rule (IFR) operations at the airport. Geographic coordinates are... approach procedures at Washington County Memorial Airport, Washington, KS. Airspace configuration is...

  14. 78 FR 14097 - Pulse Oximeters-Premarket Notification Submissions [510(k)s]; Guidance for Industry and Food and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-04

    ... (Formerly 2007D-0252)] Pulse Oximeters--Premarket Notification Submissions [510(k)s]; Guidance for Industry... entitled ``Pulse Oximeters--Premarket Notification Submissions [510(k)s].'' This guidance document pertains to non-invasive pulse oximeters intended for prescription use to measure arterial blood oxygen...

  15. Crouzon's Syndrome: A Case Report

    PubMed Central

    Jyothsna, M; Ahmed, Syed Basheer; Lakshmi, K Sree

    2013-01-01

    ABSTRACT Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism, proptosis, strabismus and short upper lip, crowding of teeth, pseudocleft or sometimes cleft palate and other associated abnormalities. The CS can vary in severity from mild presentation to severe forms involving multiple cranial sutures. We report a case of CS in 11-year-old boy. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KS, Crouzon's Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37. PMID:25206185

  16. Crouzon's Syndrome: A Case Report.

    PubMed

    Kumar, G Ravi; Jyothsna, M; Ahmed, Syed Basheer; Lakshmi, K Sree

    2013-01-01

    Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism, proptosis, strabismus and short upper lip, crowding of teeth, pseudocleft or sometimes cleft palate and other associated abnormalities. The CS can vary in severity from mild presentation to severe forms involving multiple cranial sutures. We report a case of CS in 11-year-old boy. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KS, Crouzon's Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37.

  17. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding*

    PubMed Central

    Blackburn, Patrick R.; Tischer, Alexander; Zimmermann, Michael T.; Kemppainen, Jennifer L.; Sastry, Sujatha; Knight Johnson, Amy E.; Cousin, Margot A.; Boczek, Nicole J.; Oliver, Gavin; Misra, Vinod K.; Gavrilova, Ralitza H.; Lomberk, Gwen; Auton, Matthew; Urrutia, Raul; Klee, Eric W.

    2017-01-01

    Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disability with absent speech, hypotonia, brachycephaly, congenital heart defects, and dysmorphic facial features with hypertelorism, synophrys, macroglossia, protruding tongue, and prognathism. Only a few cases of de novo missense mutations in EHMT1 giving rise to KS have been described. However, some EHMT1 variants have been described in individuals presenting with autism spectrum disorder or mild intellectual disability, suggesting that the phenotypic spectrum resulting from EHMT1 alterations may be quite broad. In this report, we describe two unrelated patients with complex medical histories consistent with KS in whom next generation sequencing identified the same novel c.2426C>T (p.P809L) missense variant in EHMT1. To examine the functional significance of this novel variant, we performed molecular dynamics simulations of the wild type and p.P809L variant, which predicted that the latter would have a propensity to misfold, leading to abnormal histone mark binding. Recombinant EHMT1 p.P809L was also studied using far UV circular dichroism spectroscopy and intrinsic protein fluorescence. These functional studies confirmed the model-based hypotheses and provided evidence for protein misfolding and aberrant target recognition as the underlying pathogenic mechanism for this novel KS-associated variant. This is the first report to suggest that missense variants in EHMT1 that lead to protein misfolding and disrupted histone mark binding can lead to KS. PMID:28057753

  18. Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome.

    PubMed

    Fisher, Alessandra D; Castellini, Giovanni; Casale, Helen; Fanni, Egidia; Bandini, Elisa; Campone, Beatrice; Ferruccio, Naika; Maseroli, Elisa; Boddi, Valentina; Dèttore, Davide; Pizzocaro, Alessandro; Balercia, Giancarlo; Oppo, Alessandro; Ricca, Valdo; Maggi, Mario

    2015-12-01

    An increased risk of autistic traits in Klinefelter syndrome (KS) has been reported. In addition, some studies have shown an increased incidence of gender dysphoria (GD) and paraphilia in autism spectrum disorder. The aim of this study was to evaluate the presence of (i) paraphilic fantasies and behaviors; and (ii) GD symptomatology in KS. A sample of 46 KS individuals and 43 healthy male controls (HC) were evaluated. Subjects were studied by means of several psychometric tests, such as Autism Spectrum Quotient (AQ) and Reading the Mind in the Eyes Revised (RME) to measure autistic traits, Gender Identity/GD questionnaire (GIDYQ-AA), and Sexual Addiction Screening Test (SAST). In addition, body uneasiness psychopathological symptoms were assessed using Symptom Checklist 90 Revised (SCL-90-R). The presence and frequency of any paraphilic fantasy and behavior was assessed by means of a clinical interview based on Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria. Finally, all individuals included were assessed by Wechsler Adult Intelligence Scale-Revised to evaluate intelligence quotient (IQ). Data from a subsample of a previous published series of male to female GD individuals, with the battery of psychological measures useful to provide a psychopathological explanation of GD in KS population available, was also considered. When compared with HC, KS reported significantly lower total, verbal and performance IQ scores and higher SCL-90 obsession-compulsive symptoms (all P < 0.001). In line with previously reported findings, KS showed higher autistic traits according with both RME and AQ tests (P < 0.001). With respect to sexuality, KS showed a significant higher frequency of voyeuristic fantasies during masturbation (52.2% vs. 25.6%) and higher SAST scores (P = 0.012). A mediation role of obsessive symptoms on the relationship between Klinefelter and SAST was confirmed (unstandardized estimate b = 2.75, standard error = 0

  19. Crustal Cooling in the Neutron Star Low-Mass X-Ray Binary KS 1731-260

    NASA Astrophysics Data System (ADS)

    Merritt, Rachael L.

    Neutron stars in binary systems can undergo periods of accretion (outburst), where in- falling material heats the crust of the star out of thermal equilibrium with the core. When accretion stops (quiescence), we can directly observe the thermal relaxation of the crust. Crustal cooling of accretion-heated neutron stars provides insight into the stellar interior of neutron stars. The neutron star X-ray transient, KS 1731-260, was in outburst for 12.5 years before returning to quiescence in 2001. Here, we present a 150 ks Chandra observation of KS 1731-260 taken in August 2015, about 14.5 years into quiescence. We find that the neutron star surface temperature is consistent with the previous observation, suggesting the crust has reached thermal equilibrium with the core. Using a theoretical thermal evolution code, we fit the observed cooling curves and constrain the core temperature, composition, and the required level of extra shallow heating.

  20. Meat Processing and Garden City, KS: Boom and Bust

    ERIC Educational Resources Information Center

    Broadway, Michael J.; Stull, Donald D.

    2006-01-01

    In December 1980, the world's largest beef processing plant opened 10 miles west of Garden City, KS. Three years later another beef plant opened on Garden City's eastern edge. Full employment in the surrounding region meant that most of the 4000 workers needed to run these plants had to come from elsewhere--and they did. Garden City grew by…

  1. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.

    PubMed

    Fuchs-Telem, D; Nousbeck, J; Singer, A; McGrath, J A; Sarig, O; Sprecher, E

    2014-04-01

    Kindler syndrome (KS) is a rare autosomal recessive skin disorder, which was recently reclassified as a subtype of epidermolysis bullosa. Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations could not be identified has raised the possibility that the disorder may be genetically heterogeneous. To assess two highly consanguineous families with clinical characteristics of KS. In the first family, a hitherto unreported deletion (c.137-140delTAGT) in FERMT1 was detected, which is predicted to lead to premature termination of translation. However, direct sequencing of the coding region of FERMT1 failed to disclose any pathogenic change in the second family. To confirm the possibility that the disease in this family may be due to a mutation in another gene, we used homozygosity mapping, and found that all affected family members share a segment of homozygosity on 20p12.3, spanning the FERMT1 gene. Accordingly, a large and highly unusual deletion (g.-711-1241del) spanning the putative FERMT1 promoter sequence and the first noncoding exon of the gene was found to cosegregate with the disease phenotype in this family, and to prevent transcription of the gene, as attested by the lack of FERMT1 message in the skin of a patient. The present data provide evidence in support of genetic homogeneity in KS. © 2014 British Association of Dermatologists.

  2. Racial/Ethnic Differences in the Incidence of Kawasaki Syndrome among Children in Hawai‘i

    PubMed Central

    Christensen, Krista Y; Belay, Ermias D; Steiner, Claudia A; Effler, Paul V; Miyamura, Jill; Forbes, Susan; Schonberger, Lawrence B; Melish, Marian

    2010-01-01

    Objective To describe the occurrence of Kawasaki syndrome (KS) among different racial/ethnic groups in Hawai‘i. Methods Retrospective analysis of children <18 years of age, with a focus on children <5 years of age, living in Hawai‘i who were hospitalized with KS using the 1996–2006 Hawai‘i State Inpatient Data. Results Children <5 years of age accounted for 84% of the 528 patients <18 years of age with KS. The average annual incidence among this age group was 50.4 per 100,000 children <5 years of age, ranging from 45.5 to 56.5. Asian and Pacific Islander children accounted for 92% of the children <5 years of age with KS during the study period; the average annual incidence was 62.9 per 100,000. Within this group, Japanese children had the highest incidence (210.5), followed by Native Hawaiian children (86.9), other Asian children (84.9), and Chinese children (83.2). The incidence for white children (13.7) was lower than for these racial/ethnic groups. The median age of KS admission for children <5 years of age was 21 months overall, 24 months for Japanese children, 14.5 months for Native Hawaiian children and 26.5 months for white children. Conclusions The high average annual KS incidence for children <5 years of age in Hawai‘i compared to the rest of the United States population reflects an increased KS incidence among Asian and Pacific Islander children, especially Japanese children. The incidence for white children was slightly higher than or similar to that generally reported nationwide. PMID:20845285

  3. 78 FR 11115 - Proposed Amendment of Class E Airspace; Atwood, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-15

    ...-1431; Airspace Docket No. 11-ACE-24] Proposed Amendment of Class E Airspace; Atwood, KS AGENCY: Federal..., Washington, DC 20590-0001. You must identify the docket number FAA-2011-1431/Airspace Docket No. 11- ACE-24... [[Page 11116

  4. The Thermal State of KS 1731-260 after 14.5 years in Quiescence

    NASA Astrophysics Data System (ADS)

    Merritt, Rachael L.; Cackett, Edward M.; Brown, Edward F.; Page, Dany; Cumming, Andrew; Degenaar, Nathalie; Deibel, Alex; Homan, Jeroen; Miller, Jon M.; Wijnands, Rudy

    2016-12-01

    Crustal cooling of accretion-heated neutron stars provides insight into the stellar interior of neutron stars. The neutron star X-ray transient, KS 1731-260, was in outburst for 12.5 years before returning to quiescence in 2001. We have monitored the cooling of this source since then through Chandra and XMM-Newton observations. Here we present a 150 ks Chandra observation of KS 1731-260 taken in 2015 August, about 14.5 years into quiescence and 6 years after the previous observation. We find that the neutron star surface temperature is consistent with the previous observation, suggesting that crustal cooling has likely stopped and the crust has reached thermal equilibrium with the core. Using a theoretical crust thermal evolution code, we fit the observed cooling curves and constrain the core temperature (T c = 9.35 ± 0.25 × 107 K), composition (Q {}{imp}={4.4}-0.5+2.2), and level of extra shallow heating required (Q sh = 1.36 ± 0.18 MeV/nucleon). We find that the presence of a low thermal conductivity layer, as expected from nuclear pasta, is not required to fit the cooling curve well, but cannot be excluded either.

  5. The thermal state of KS 1731-260 after 14.5 years in quiescence

    NASA Astrophysics Data System (ADS)

    Merritt, R.; Cackett, E.; Brown, E.; Page, D.; Cumming, A.; Degenaar, N.; Deibel, A.; Homan, J.; Miller, J.; Wijnands, R.

    2017-10-01

    Crustal cooling of accretion-heated neutron stars provides insight into the stellar interior of neutron stars. The neutron star X-ray transient, KS 1731-260, was in outburst for 12.5 years before returning to quiescence in 2001. We have monitored the cooling of this source since then through Chandra and XMM-Newton observations. Here, we present a 150 ks Chandra observation of KS 1731-260 taken in August 2015, about 14.5 years into quiescence, and 6 years after the previous observation. We find that the neutron star surface temperature is consistent with the previous observation, suggesting that crustal cooling has likely stopped and the crust has reached thermal equilibrium with the core. Using a theoretical crust thermal evolution code, we fit the observed cooling curves and constrain the core temperature (T_c = 9.35±0.25×10^7 K), composition (Q_{imp} = 4.4^{+2.2}_{-0.5}) and level of extra shallow heating required (Q_{sh} = 1.36±0.18 MeV/nucleon). We find that the presence of a low thermal conductivity layer, as expected from nuclear pasta, is not required to fit the cooling curve well, but cannot be excluded either.

  6. Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.

    PubMed

    Natsuga, Ken; Nishie, Wataru; Shinkuma, Satoru; Nakamura, Hideki; Matsushima, Yoichiro; Tatsuta, Aya; Komine, Mayumi; Shimizu, Hiroshi

    2011-01-01

    Kindler syndrome (KS) is a rare, inherited skin disease characterized by blister formation and generalized poikiloderma. Mutations in KIND1, which encodes kindlin-1, are responsible for KS. c.1089del/1089+1del is a recurrent splice-site deletion mutation in KS patients. To elucidate the effects of c.1089del/1089+1del at the mRNA and protein level. Two KS patients with c.1089del/1089+1del were included in this study. Immunofluorescence analysis of KS skin samples using antibodies against the dermo-epidermal junction proteins was performed. Exon-trapping experiments were performed to isolate the mRNA sequences transcribed from genomic DNA harbouring c.1089del/1089+1del. β1 integrin activation in HeLa cells transfected with truncated KIND1 cDNA was analyzed. Immunofluorescence study showed positive expression of kindlin-1 in KS skin with c.1089del/1089+1del mutation. We identified the exon-8-skipped in-frame transcript as the main product among multiple splicing variants derived from that mutation. HeLa cells transfected with KIND1 cDNA without exon 8 showed impaired β1 integrin activation. Exon-8-coding amino acids are located in the FERM F2 domain, which is conserved among species, and the unstructured region between F2 and the pleckstrin homology domain. This study suggests that exon-8-skipped truncated kindlin-1 is functionally defective and does not compensate for the defects of KS, even though kindlin-1 expression in skin is positive. Copyright © 2010 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

  7. 77 FR 31831 - Designation for the Topeka, KS; Cedar Rapids, IA; Minot, ND; and Cincinnati, OH Areas

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-30

    ... the Topeka, KS; Cedar Rapids, IA; Minot, ND; and Cincinnati, OH Areas AGENCY: Grain Inspection.... Applications were due by March 12, 2012. Topeka, KS; Cedar Rapids, IA; Minot, ND and Cincinnati, OH areas were...) 233-7063 7/1/2012 6/30/2015 Mid-Iowa Cedar Rapids, IA; (319) 363-0239...... 7/1/2012 6/30/2015 Minot...

  8. Histological characterization of regression in acquired immunodeficiency syndrome-related Kaposi's sarcoma.

    PubMed

    Pantanowitz, Liron; Dezube, Bruce J; Pinkus, Geraldine S; Tahan, Steven R

    2004-01-01

    Kaposi's sarcoma (KS) is an angioproliferative lesion that may regress or progress. Progression is related to spindle cell proliferation and the expression of human herpes virus-8 latency genes, including latent nuclear antigen-1 (LNA-1), cyclin-D1, and bcl-2. KS regression has not been well characterized histologically. Therefore, this study was undertaken to characterize the histopathology of pharmacologically induced regressed cutaneous KS. Skin punch biopsies from eight patients with acquired immunodeficiency syndrome (AIDS)-related KS, that regressed following chemotherapy with paclitaxel or the angiogenesis inhibitor Col-3, were investigated by light microscopy. Comparative immunophenotyping on pre- and post-treatment specimens for CD31, LNA-1, cyclin-D1, bcl-2, and CD117 (c-kit) was performed. Clinical and histologic features of regression were similar for paclitaxel and Col-3 treatment. On clinical examination, lesions flattened, became smaller, and lost their purple-red appearance, resulting in an orange-brown macule. Histological regression was divided into partial (n = 3) and complete (n = 5) regression. Partially regressed lesions had a significant reduction of spindle cells in the dermal interstitium, with residual spindle cells arranged around superficial and mid-dermal capillaries. Complete regression was characterized by an absence of detectable spindle cells, with a slight increase in capillaries of the superficial plexus. All regressed samples exhibited a prominent, superficial, perivascular, lymphocytic infiltrate and abundant dermal hemosiderin-laden macrophages. This clinicopathologic picture resembled the findings of pigmented purpura. CD31 staining correlated with the reduction of spindle cells. Regression was accompanied by a quantitative and qualitative decrease in LNA-1 and cyclin-D1 immunoreactivity, but no change in bcl-2 or c-kit expression. Pharmacologically induced regression of AIDS-related cutaneous KS is characterized by a complete

  9. Testicular expressed genes are missing in familial X-Linked Kallmann syndrome due to two large different deletions in daughter's X chromosomes.

    PubMed

    Hershkovitz, Eli; Loewenthal, Neta; Peretz, Asaf; Parvari, Ruti

    2008-01-01

    X-linked Kallmann syndrome (KS) is caused mainly by point mutations, in the KAL1 gene. Large deletions >1 Mb are rare events in the human population and commonly result in contiguous gene syndromes. A search for the mutation causing KS carried out on two pairs of first-degree cousins of 2 sisters. Two different apparently independent deletions were found. The deleted sequences encompass the KAL1 gene and four known additional genes exclusively expressed in testis. Two of these genes belong to the FAM9 gene family, which shares some homology with the SCYP3 gene, previously implicated in azoospermia. One of the events causing the deletion may have been mediated by an L1 transposition, the other by a non-homologous end joining. Such non-homologous recombinations have not yet been reported in the KAL genomic region and thus this area may be more prone to deletions than previously expected. This is the first report on genetic characterization of KS with a deletion of solely testis-expressed genes. The absence of these genes may have unfavorable implications for the patients regarding future fertility. (c) 2008 S. Karger AG, Basel

  10. Efficiency of generation of optical centers in KS-4V and KU-1 quartz glasses at neutron and gamma irradiation

    NASA Astrophysics Data System (ADS)

    Islamov, A. Kh.; Salikhbaev, U. S.; Ibragimova, E. M.; Nuritdinov, I.; Fayzullaev, B. S.; Vukolov, K. Yu.; Orlovskiy, I.

    2013-11-01

    Pure quartz glasses of KS-4V and KU-1 types are candidates for optical plasma diagnostic system in ITER. The purpose of experiment was to study the efficiency of defect production in these glasses under irradiation with 60Со γ-quanta (5.7 Gy/s) dose range of 102-107 Gy and the fission reactor neutrons in the fluency range of 1020-1023 n/m2 and gammas simulating the plasma influence. In KU-1 (1000 ppm OH) the accumulation kinetics of E‧-(5.75 eV) and NBO-(1.9 eV) centers at γ-doses⩾5×105 Gy and neutron fluencies <1021 n/m2 is faster, than that in KS-4V glasses (<0.1 ppm OH) that is caused by rupture of hydrogen bonds. At fluencies >1021 n/m2 the NBO accumulation kinetics is slower in KU-1 than in KS-4B, because highly mobile hydrogen atoms access to the generated NBO centers. In KS-4V irradiated to γ-doses102-5 × 103 Gy a new unstable absorption band at 1.8 eV was found, which is caused by the glass synthesis conditions and alkali metal impurities. The transparency at 3.5-6.2 eV at fluencies 1020-5 × 1021 n/m2 is higher in KS-4V than KU-1. However at fluencies >1021 n/m2 in KS-4V the photoluminescence band at 2.7 eV is more intensive and distorts a diagnosed signal. The transparency in 3.5-1.2 eV at fluencies >1021 n/m2 is higher in KU-1 than KS-4V.

  11. Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

    PubMed Central

    Wallentin, Mikkel; Skakkebæk, Anne; Bojesen, Anders; Fedder, Jens; Laurberg, Peter; Østergaard, John R.; Hertz, Jens Michael; Pedersen, Anders Degn; Gravholt, Claus Højbjerg

    2016-01-01

    Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a number of neurocognitive abnormalities, yet little is known about brain function. This study investigated the fMRI-BOLD response from KS relative to a group of Controls to basic motor, perceptual, executive and adaptation tasks. Participants (N: KS = 49; Controls = 49) responded to whether the words “GREEN” or “RED” were displayed in green or red (incongruent versus congruent colors). One of the colors was presented three times as often as the other, making it possible to study both congruency and adaptation effects independently. Auditory stimuli saying “GREEN” or “RED” had the same distribution, making it possible to study effects of perceptual modality as well as Frequency effects across modalities. We found that KS had an increased response to motor output in primary motor cortex and an increased response to auditory stimuli in auditory cortices, but no difference in primary visual cortices. KS displayed a diminished response to written visual stimuli in secondary visual regions near the Visual Word Form Area, consistent with the widespread dyslexia in the group. No neural differences were found in inhibitory control (Stroop) or in adaptation to differences in stimulus frequencies. Across groups we found a strong positive correlation between age and BOLD response in the brain's motor network with no difference between groups. No effects of testosterone level or brain volume were found. In sum, the present findings suggest that auditory and motor systems in KS are selectively affected, perhaps as a compensatory strategy, and that this is not a systemic effect as it is not seen in the visual system. PMID:26958463

  12. Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation.

    PubMed

    Wallentin, Mikkel; Skakkebæk, Anne; Bojesen, Anders; Fedder, Jens; Laurberg, Peter; Østergaard, John R; Hertz, Jens Michael; Pedersen, Anders Degn; Gravholt, Claus Højbjerg

    2016-01-01

    Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a number of neurocognitive abnormalities, yet little is known about brain function. This study investigated the fMRI-BOLD response from KS relative to a group of Controls to basic motor, perceptual, executive and adaptation tasks. Participants (N: KS = 49; Controls = 49) responded to whether the words "GREEN" or "RED" were displayed in green or red (incongruent versus congruent colors). One of the colors was presented three times as often as the other, making it possible to study both congruency and adaptation effects independently. Auditory stimuli saying "GREEN" or "RED" had the same distribution, making it possible to study effects of perceptual modality as well as Frequency effects across modalities. We found that KS had an increased response to motor output in primary motor cortex and an increased response to auditory stimuli in auditory cortices, but no difference in primary visual cortices. KS displayed a diminished response to written visual stimuli in secondary visual regions near the Visual Word Form Area, consistent with the widespread dyslexia in the group. No neural differences were found in inhibitory control (Stroop) or in adaptation to differences in stimulus frequencies. Across groups we found a strong positive correlation between age and BOLD response in the brain's motor network with no difference between groups. No effects of testosterone level or brain volume were found. In sum, the present findings suggest that auditory and motor systems in KS are selectively affected, perhaps as a compensatory strategy, and that this is not a systemic effect as it is not seen in the visual system.

  13. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

    PubMed

    Gao, Ying; Bai, Jin-li; Liu, Xiao-yan; Qu, Yu-jin; Cao, Yan-yan; Wang, Jian-cai; Jin, Yu-wei; Wang, Hong; Song, Fang

    2015-11-01

    Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin disorder, which results in symptoms including blistering, epidermal atrophy, increased risk of cancer, and poor wound healing. The majority of mutations of the disease-determining gene (FERMT1 gene) are single nucleotide substitutions, including missense mutations, nonsense mutations, etc. Large deletion mutations are seldom reported. To determine the mutation in the FERMT1 gene associated with a 7-year-old Chinese patient who presented clinical manifestation of KS, we performed direct sequencing of all the exons of FERMT1 gene. For the exons 2-6 without amplicons, we analyzed the copy numbers using quantitative real-time polymerase chain reaction (qRT-PCR) with specific primers. The deletion breakpoints were sublocalized and the range of deletion was confirmed by PCR and direct sequencing. In this study, we identified a new 17-kb deletion mutation spanning the introns 1-6 of FERMT1 gene in a Chinese patient with severe KS phenotypes. Her parents were carriers of the same mutation. Our study reported a newly identified large deletion mutation of FERMT1 gene involved in KS, which further enriched the mutation spectrum of the FERMT1 gene.

  14. K.s. Micro-implant placement guide.

    PubMed

    Sharma, K; Sangwan, A

    2014-09-01

    A one of the greatest concerns with orthodontic mini-implants is risk of injury to dental roots during placement is, especially when they are inserted between teeth. Many techniques have been used to facilitate safe placement of interradicular miniscrews. Brass Wires or metallic markers are easy to place in the interproximal spaces, but because their relative positions may be inconsistent in different radio -graphic views, they are not always accurate. K.S. micro implant placement guide suggested in this article is simple design and easy in fabrication, required minimal equipment for fabrication and does not disturb the existing appliance system, clearly located in the radiograph and the mini-screw can be easily inserted through the guide reducing the chance of implant misplacement.

  15. Acoustic emissions diagnosis of rotor-stator rubs using the KS statistic

    NASA Astrophysics Data System (ADS)

    Hall, L. D.; Mba, D.

    2004-07-01

    Acoustic emission (AE) measurement at the bearings of rotating machinery has become a useful tool for diagnosing incipient fault conditions. In particular, AE can be used to detect unwanted intermittent or partial rubbing between a rotating central shaft and surrounding stationary components. This is a particular problem encountered in turbines used for power generation. For successful fault diagnosis, it is important to adopt AE signal analysis techniques capable of distinguishing between various types of rub mechanisms. It is also useful to develop techniques for inferring information such as the severity of rubbing or the type of seal material making contact on the shaft. It is proposed that modelling the cumulative distribution function of rub-induced AE signals with respect to appropriate theoretical distributions, and quantifying the goodness of fit with the Kolmogorov-Smirnov (KS) statistic, offers a suitable signal feature for diagnosis. This paper demonstrates the successful use of the KS feature for discriminating different classes of shaft-seal rubbing.

  16. Measuring KS0 K± interactions using Pb-Pb collisions at √{sNN} = 2.76 TeV

    NASA Astrophysics Data System (ADS)

    Acharya, S.; Adamová, D.; Adolfsson, J.; Aggarwal, M. M.; Aglieri Rinella, G.; Agnello, M.; Agrawal, N.; Ahammed, Z.; Ahmad, N.; Ahn, S. U.; Aiola, S.; Akindinov, A.; Alam, S. N.; Alba, J. L. B.; Albuquerque, D. S. D.; Aleksandrov, D.; Alessandro, B.; Alfaro Molina, R.; Alici, A.; Alkin, A.; Alme, J.; Alt, T.; Altenkamper, L.; Altsybeev, I.; Alves Garcia Prado, C.; An, M.; Andrei, C.; Andreou, D.; Andrews, H. A.; Andronic, A.; Anguelov, V.; Anson, C.; Antičić, T.; Antinori, F.; Antonioli, P.; Anwar, R.; Aphecetche, L.; Appelshäuser, H.; Arcelli, S.; Arnaldi, R.; Arnold, O. W.; Arsene, I. C.; Arslandok, M.; Audurier, B.; Augustinus, A.; Averbeck, R.; Azmi, M. D.; Badalà, A.; Baek, Y. W.; Bagnasco, S.; Bailhache, R.; Bala, R.; Baldisseri, A.; Ball, M.; Baral, R. C.; Barbano, A. M.; Barbera, R.; Barile, F.; Barioglio, L.; Barnaföldi, G. G.; Barnby, L. S.; Barret, V.; Bartalini, P.; Barth, K.; Bartke, J.; Bartsch, E.; Basile, M.; Bastid, N.; Basu, S.; Bathen, B.; Batigne, G.; Batista Camejo, A.; Batyunya, B.; Batzing, P. C.; Bearden, I. G.; Beck, H.; Bedda, C.; Behera, N. K.; Belikov, I.; Bellini, F.; Bello Martinez, H.; Bellwied, R.; Beltran, L. G. E.; Belyaev, V.; Bencedi, G.; Beole, S.; Bercuci, A.; Berdnikov, Y.; Berenyi, D.; Bertens, R. A.; Berzano, D.; Betev, L.; Bhasin, A.; Bhat, I. R.; Bhati, A. K.; Bhattacharjee, B.; Bhom, J.; Bianchi, L.; Bianchi, N.; Bianchin, C.; Bielčík, J.; Bielčíková, J.; Bilandzic, A.; Biswas, R.; Biswas, S.; Blair, J. T.; Blau, D.; Blume, C.; Boca, G.; Bock, F.; Bogdanov, A.; Boldizsár, L.; Bombara, M.; Bonomi, G.; Bonora, M.; Book, J.; Borel, H.; Borissov, A.; Borri, M.; Botta, E.; Bourjau, C.; Braun-Munzinger, P.; Bregant, M.; Broker, T. A.; Browning, T. A.; Broz, M.; Brucken, E. J.; Bruna, E.; Bruno, G. E.; Budnikov, D.; Buesching, H.; Bufalino, S.; Buhler, P.; Buncic, P.; Busch, O.; Buthelezi, Z.; Butt, J. B.; Buxton, J. T.; Cabala, J.; Caffarri, D.; Caines, H.; Caliva, A.; Calvo Villar, E.; Camerini, P.; Capon, A. A.; Carena, F.; Carena, W.; Carnesecchi, F.; Castillo Castellanos, J.; Castro, A. J.; Casula, E. A. R.; Ceballos Sanchez, C.; Cerello, P.; Chandra, S.; Chang, B.; Chapeland, S.; Chartier, M.; Charvet, J. L.; Chattopadhyay, S.; Chattopadhyay, S.; Chauvin, A.; Cherney, M.; Cheshkov, C.; Cheynis, B.; Chibante Barroso, V.; Chinellato, D. D.; Cho, S.; Chochula, P.; Choi, K.; Chojnacki, M.; Choudhury, S.; Chowdhury, T.; Christakoglou, P.; Christensen, C. H.; Christiansen, P.; Chujo, T.; Chung, S. U.; Cicalo, C.; Cifarelli, L.; Cindolo, F.; Cleymans, J.; Colamaria, F.; Colella, D.; Collu, A.; Colocci, M.; Concas, M.; Conesa Balbastre, G.; Conesa Del Valle, Z.; Connors, M. E.; Contreras, J. G.; Cormier, T. M.; Corrales Morales, Y.; Cortés Maldonado, I.; Cortese, P.; Cosentino, M. R.; Costa, F.; Costanza, S.; Crkovská, J.; Crochet, P.; Cuautle, E.; Cunqueiro, L.; Dahms, T.; Dainese, A.; Danisch, M. C.; Danu, A.; Das, D.; Das, I.; Das, S.; Dash, A.; Dash, S.; de, S.; de Caro, A.; de Cataldo, G.; de Conti, C.; de Cuveland, J.; de Falco, A.; de Gruttola, D.; De Marco, N.; de Pasquale, S.; de Souza, R. D.; Degenhardt, H. F.; Deisting, A.; Deloff, A.; Deplano, C.; Dhankher, P.; di Bari, D.; di Mauro, A.; di Nezza, P.; di Ruzza, B.; Diakonov, I.; Diaz Corchero, M. A.; Dietel, T.; Dillenseger, P.; Divià, R.; Djuvsland, Ø.; Dobrin, A.; Domenicis Gimenez, D.; Dönigus, B.; Dordic, O.; Doremalen, L. V. V.; Drozhzhova, T.; Dubey, A. K.; Dubla, A.; Ducroux, L.; Duggal, A. K.; Dupieux, P.; Ehlers, R. J.; Elia, D.; Endress, E.; Engel, H.; Epple, E.; Erazmus, B.; Erhardt, F.; Espagnon, B.; Esumi, S.; Eulisse, G.; Eum, J.; Evans, D.; Evdokimov, S.; Fabbietti, L.; Faivre, J.; Fantoni, A.; Fasel, M.; Feldkamp, L.; Feliciello, A.; Feofilov, G.; Ferencei, J.; Fernández Téllez, A.; Ferreiro, E. G.; Ferretti, A.; Festanti, A.; Feuillard, V. J. G.; Figiel, J.; Figueredo, M. A. S.; Filchagin, S.; Finogeev, D.; Fionda, F. M.; Fiore, E. M.; Floris, M.; Foertsch, S.; Foka, P.; Fokin, S.; Fragiacomo, E.; Francescon, A.; Francisco, A.; Frankenfeld, U.; Fronze, G. G.; Fuchs, U.; Furget, C.; Furs, A.; Fusco Girard, M.; Gaardhøje, J. J.; Gagliardi, M.; Gago, A. M.; Gajdosova, K.; Gallio, M.; Galvan, C. D.; Ganoti, P.; Gao, C.; Garabatos, C.; Garcia-Solis, E.; Garg, K.; Garg, P.; Gargiulo, C.; Gasik, P.; Gauger, E. F.; Gay Ducati, M. B.; Germain, M.; Ghosh, J.; Ghosh, P.; Ghosh, S. K.; Gianotti, P.; Giubellino, P.; Giubilato, P.; Gladysz-Dziadus, E.; Glässel, P.; Goméz Coral, D. M.; Gomez Ramirez, A.; Gonzalez, A. S.; Gonzalez, V.; González-Zamora, P.; Gorbunov, S.; Görlich, L.; Gotovac, S.; Grabski, V.; Graczykowski, L. K.; Graham, K. L.; Greiner, L.; Grelli, A.; Grigoras, C.; Grigoriev, V.; Grigoryan, A.; Grigoryan, S.; Grion, N.; Gronefeld, J. M.; Grosa, F.; Grosse-Oetringhaus, J. F.; Grosso, R.; Gruber, L.; Guber, F.; Guernane, R.; Guerzoni, B.; Gulbrandsen, K.; Gunji, T.; Gupta, A.; Gupta, R.; Guzman, I. B.; Haake, R.; Hadjidakis, C.; Hamagaki, H.; Hamar, G.; Hamon, J. C.; Harris, J. W.; Harton, A.; Hassan, H.; Hatzifotiadou, D.; Hayashi, S.; Heckel, S. T.; Hellbär, E.; Helstrup, H.; Herghelegiu, A.; Herrera Corral, G.; Herrmann, F.; Hess, B. A.; Hetland, K. F.; Hillemanns, H.; Hills, C.; Hippolyte, B.; Hladky, J.; Hohlweger, B.; Horak, D.; Hornung, S.; Hosokawa, R.; Hristov, P.; Hughes, C.; Humanic, T. J.; Hussain, N.; Hussain, T.; Hutter, D.; Hwang, D. S.; Iga Buitron, S. A.; Ilkaev, R.; Inaba, M.; Ippolitov, M.; Irfan, M.; Isakov, V.; Ivanov, M.; Ivanov, V.; Izucheev, V.; Jacak, B.; Jacazio, N.; Jacobs, P. M.; Jadhav, M. B.; Jadlovska, S.; Jadlovsky, J.; Jaelani, S.; Jahnke, C.; Jakubowska, M. J.; Janik, M. A.; Jayarathna, P. H. S. Y.; Jena, C.; Jena, S.; Jercic, M.; Jimenez Bustamante, R. T.; Jones, P. G.; Jusko, A.; Kalinak, P.; Kalweit, A.; Kang, J. H.; Kaplin, V.; Kar, S.; Karasu Uysal, A.; Karavichev, O.; Karavicheva, T.; Karayan, L.; Karpechev, E.; Kebschull, U.; Keidel, R.; Keijdener, D. L. D.; Keil, M.; Ketzer, B.; Khan, P.; Khan, S. A.; Khanzadeev, A.; Kharlov, Y.; Khatun, A.; Khuntia, A.; Kielbowicz, M. M.; Kileng, B.; Kim, D.; Kim, D. W.; Kim, D. J.; Kim, H.; Kim, J. S.; Kim, J.; Kim, M.; Kim, M.; Kim, S.; Kim, T.; Kirsch, S.; Kisel, I.; Kiselev, S.; Kisiel, A.; Kiss, G.; Klay, J. L.; Klein, C.; Klein, J.; Klein-Bösing, C.; Klewin, S.; Kluge, A.; Knichel, M. L.; Knospe, A. G.; Kobdaj, C.; Kofarago, M.; Kollegger, T.; Kolojvari, A.; Kondratiev, V.; Kondratyeva, N.; Kondratyuk, E.; Konevskikh, A.; Konyushikhin, M.; Kopcik, M.; Kour, M.; Kouzinopoulos, C.; Kovalenko, O.; Kovalenko, V.; Kowalski, M.; Koyithatta Meethaleveedu, G.; Králik, I.; Kravčáková, A.; Krivda, M.; Krizek, F.; Kryshen, E.; Krzewicki, M.; Kubera, A. M.; Kučera, V.; Kuhn, C.; Kuijer, P. G.; Kumar, A.; Kumar, J.; Kumar, L.; Kumar, S.; Kundu, S.; Kurashvili, P.; Kurepin, A.; Kurepin, A. B.; Kuryakin, A.; Kushpil, S.; Kweon, M. J.; Kwon, Y.; La Pointe, S. L.; La Rocca, P.; Lagana Fernandes, C.; Lai, Y. S.; Lakomov, I.; Langoy, R.; Lapidus, K.; Lara, C.; Lardeux, A.; Lattuca, A.; Laudi, E.; Lavicka, R.; Lazaridis, L.; Lea, R.; Leardini, L.; Lee, S.; Lehas, F.; Lehner, S.; Lehrbach, J.; Lemmon, R. C.; Lenti, V.; Leogrande, E.; León Monzón, I.; Lévai, P.; Li, S.; Li, X.; Lien, J.; Lietava, R.; Lim, B.; Lindal, S.; Lindenstruth, V.; Lindsay, S. W.; Lippmann, C.; Lisa, M. A.; Litichevskyi, V.; Ljunggren, H. M.; Llope, W. J.; Lodato, D. F.; Loenne, P. I.; Loginov, V.; Loizides, C.; Loncar, P.; Lopez, X.; López Torres, E.; Lowe, A.; Luettig, P.; Lunardon, M.; Luparello, G.; Lupi, M.; Lutz, T. H.; Maevskaya, A.; Mager, M.; Mahajan, S.; Mahmood, S. M.; Maire, A.; Majka, R. D.; Malaev, M.; Malinina, L.; Mal'Kevich, D.; Malzacher, P.; Mamonov, A.; Manko, V.; Manso, F.; Manzari, V.; Mao, Y.; Marchisone, M.; Mareš, J.; Margagliotti, G. V.; Margotti, A.; Margutti, J.; Marín, A.; Markert, C.; Marquard, M.; Martin, N. A.; Martinengo, P.; Martinez, J. A. L.; Martínez, M. I.; Martínez García, G.; Martinez Pedreira, M.; Mas, A.; Masciocchi, S.; Masera, M.; Masoni, A.; Masson, E.; Mastroserio, A.; Mathis, A. M.; Matyja, A.; Mayer, C.; Mazer, J.; Mazzilli, M.; Mazzoni, M. A.; Meddi, F.; Melikyan, Y.; Menchaca-Rocha, A.; Meninno, E.; Mercado Pérez, J.; Meres, M.; Mhlanga, S.; Miake, Y.; Mieskolainen, M. M.; Mihaylov, D.; Mihaylov, D. L.; Mikhaylov, K.; Milano, L.; Milosevic, J.; Mischke, A.; Mishra, A. N.; Miśkowiec, D.; Mitra, J.; Mitu, C. M.; Mohammadi, N.; Mohanty, B.; Mohisin Khan, M.; Montes, E.; Moreira de Godoy, D. A.; Moreno, L. A. P.; Moretto, S.; Morreale, A.; Morsch, A.; Muccifora, V.; Mudnic, E.; Mühlheim, D.; Muhuri, S.; Mukherjee, M.; Mulligan, J. D.; Munhoz, M. G.; Münning, K.; Munzer, R. H.; Murakami, H.; Murray, S.; Musa, L.; Musinsky, J.; Myers, C. J.; Myrcha, J. W.; Naik, B.; Nair, R.; Nandi, B. K.; Nania, R.; Nappi, E.; Narayan, A.; Naru, M. U.; Natal da Luz, H.; Nattrass, C.; Navarro, S. R.; Nayak, K.; Nayak, R.; Nayak, T. K.; Nazarenko, S.; Nedosekin, A.; Negrao de Oliveira, R. A.; Nellen, L.; Nesbo, S. V.; Ng, F.; Nicassio, M.; Niculescu, M.; Niedziela, J.; Nielsen, B. S.; Nikolaev, S.; Nikulin, S.; Nikulin, V.; Nobuhiro, A.; Noferini, F.; Nomokonov, P.; Nooren, G.; Noris, J. C. C.; Norman, J.; Nyanin, A.; Nystrand, J.; Oeschler, H.; Oh, S.; Ohlson, A.; Okubo, T.; Olah, L.; Oleniacz, J.; Oliveira da Silva, A. C.; Oliver, M. H.; Onderwaater, J.; Oppedisano, C.; Orava, R.; Oravec, M.; Ortiz Velasquez, A.; Oskarsson, A.; Otwinowski, J.; Oyama, K.; Pachmayer, Y.; Pacik, V.; Pagano, D.; Pagano, P.; Paić, G.; Palni, P.; Pan, J.; Pandey, A. K.; Panebianco, S.; Papikyan, V.; Pappalardo, G. S.; Pareek, P.; Park, J.; Park, W. J.; Parmar, S.; Passfeld, A.; Pathak, S. P.; Paticchio, V.; Patra, R. N.; Paul, B.; Pei, H.; Peitzmann, T.; Peng, X.; Pereira, L. G.; Pereira da Costa, H.; Peresunko, D.; Perez Lezama, E.; Peskov, V.; Pestov, Y.; Petráček, V.; Petrov, V.; Petrovici, M.; Petta, C.; Pezzi, R. P.; Piano, S.; Pikna, M.; Pillot, P.; Pimentel, L. O. D. L.; Pinazza, O.; Pinsky, L.; Piyarathna, D. B.; Płoskoń, M.; Planinic, M.; Pliquett, F.; Pluta, J.; Pochybova, S.; Podesta-Lerma, P. L. M.; Poghosyan, M. G.; Polichtchouk, B.; Poljak, N.; Poonsawat, W.; Pop, A.; Poppenborg, H.; Porteboeuf-Houssais, S.; Porter, J.; Pozdniakov, V.; Prasad, S. K.; Preghenella, R.; Prino, F.; Pruneau, C. A.; Pshenichnov, I.; Puccio, M.; Puddu, G.; Pujahari, P.; Punin, V.; Putschke, J.; Rachevski, A.; Raha, S.; Rajput, S.; Rak, J.; Rakotozafindrabe, A.; Ramello, L.; Rami, F.; Rana, D. B.; Raniwala, R.; Raniwala, S.; Räsänen, S. S.; Rascanu, B. T.; Rathee, D.; Ratza, V.; Ravasenga, I.; Read, K. F.; Redlich, K.; Rehman, A.; Reichelt, P.; Reidt, F.; Ren, X.; Renfordt, R.; Reolon, A. R.; Reshetin, A.; Reygers, K.; Riabov, V.; Ricci, R. A.; Richert, T.; Richter, M.; Riedler, P.; Riegler, W.; Riggi, F.; Ristea, C.; Rodríguez Cahuantzi, M.; Røed, K.; Rogochaya, E.; Rohr, D.; Röhrich, D.; Rokita, P. S.; Ronchetti, F.; Rosnet, P.; Rossi, A.; Rotondi, A.; Roukoutakis, F.; Roy, A.; Roy, C.; Roy, P.; Rubio Montero, A. J.; Rueda, O. V.; Rui, R.; Russo, R.; Rustamov, A.; Ryabinkin, E.; Ryabov, Y.; Rybicki, A.; Saarinen, S.; Sadhu, S.; Sadovsky, S.; Šafařík, K.; Saha, S. K.; Sahlmuller, B.; Sahoo, B.; Sahoo, P.; Sahoo, R.; Sahoo, S.; Sahu, P. K.; Saini, J.; Sakai, S.; Saleh, M. A.; Salzwedel, J.; Sambyal, S.; Samsonov, V.; Sandoval, A.; Sarkar, D.; Sarkar, N.; Sarma, P.; Sas, M. H. P.; Scapparone, E.; Scarlassara, F.; Scharenberg, R. P.; Scheid, H. S.; Schiaua, C.; Schicker, R.; Schmidt, C.; Schmidt, H. R.; Schmidt, M. O.; Schmidt, M.; Schuchmann, S.; Schukraft, J.; Schutz, Y.; Schwarz, K.; Schweda, K.; Scioli, G.; Scomparin, E.; Scott, R.; Šefčík, M.; Seger, J. E.; Sekiguchi, Y.; Sekihata, D.; Selyuzhenkov, I.; Senosi, K.; Senyukov, S.; Serradilla, E.; Sett, P.; Sevcenco, A.; Shabanov, A.; Shabetai, A.; Shahoyan, R.; Shaikh, W.; Shangaraev, A.; Sharma, A.; Sharma, A.; Sharma, M.; Sharma, M.; Sharma, N.; Sheikh, A. I.; Shigaki, K.; Shou, Q.; Shtejer, K.; Sibiriak, Y.; Siddhanta, S.; Sielewicz, K. M.; Siemiarczuk, T.; Silvermyr, D.; Silvestre, C.; Simatovic, G.; Simonetti, G.; Singaraju, R.; Singh, R.; Singhal, V.; Sinha, T.; Sitar, B.; Sitta, M.; Skaali, T. B.; Slupecki, M.; Smirnov, N.; Snellings, R. J. M.; Snellman, T. W.; Song, J.; Song, M.; Soramel, F.; Sorensen, S.; Sozzi, F.; Spiriti, E.; Sputowska, I.; Srivastava, B. K.; Stachel, J.; Stan, I.; Stankus, P.; Stenlund, E.; Stocco, D.; Strmen, P.; Suaide, A. A. P.; Sugitate, T.; Suire, C.; Suleymanov, M.; Suljic, M.; Sultanov, R.; Šumbera, M.; Sumowidagdo, S.; Suzuki, K.; Swain, S.; Szabo, A.; Szarka, I.; Szczepankiewicz, A.; Tabassam, U.; Takahashi, J.; Tambave, G. J.; Tanaka, N.; Tarhini, M.; Tariq, M.; Tarzila, M. G.; Tauro, A.; Tejeda Muñoz, G.; Telesca, A.; Terasaki, K.; Terrevoli, C.; Teyssier, B.; Thakur, D.; Thakur, S.; Thomas, D.; Tieulent, R.; Tikhonov, A.; Timmins, A. R.; Toia, A.; Tripathy, S.; Trogolo, S.; Trombetta, G.; Tropp, L.; Trubnikov, V.; Trzaska, W. H.; Trzeciak, B. A.; Tsuji, T.; Tumkin, A.; Turrisi, R.; Tveter, T. S.; Ullaland, K.; Umaka, E. N.; Uras, A.; Usai, G. L.; Utrobicic, A.; Vala, M.; van der Maarel, J.; van Hoorne, J. W.; van Leeuwen, M.; Vanat, T.; Vande Vyvre, P.; Varga, D.; Vargas, A.; Vargyas, M.; Varma, R.; Vasileiou, M.; Vasiliev, A.; Vauthier, A.; Vázquez Doce, O.; Vechernin, V.; Veen, A. M.; Velure, A.; Vercellin, E.; Vergara Limón, S.; Vernet, R.; Vértesi, R.; Vickovic, L.; Vigolo, S.; Viinikainen, J.; Vilakazi, Z.; Villalobos Baillie, O.; Villatoro Tello, A.; Vinogradov, A.; Vinogradov, L.; Virgili, T.; Vislavicius, V.; Vodopyanov, A.; Völkl, M. A.; Voloshin, K.; Voloshin, S. A.; Volpe, G.; von Haller, B.; Vorobyev, I.; Voscek, D.; Vranic, D.; Vrláková, J.; Wagner, B.; Wagner, J.; Wang, H.; Wang, M.; Watanabe, D.; Watanabe, Y.; Weber, M.; Weber, S. G.; Weiser, D. F.; Wenzel, S. C.; Wessels, J. P.; Westerhoff, U.; Whitehead, A. M.; Wiechula, J.; Wikne, J.; Wilk, G.; Wilkinson, J.; Willems, G. A.; Williams, M. C. S.; Willsher, E.; Windelband, B.; Witt, W. E.; Yalcin, S.; Yamakawa, K.; Yang, P.; Yano, S.; Yin, Z.; Yokoyama, H.; Yoo, I.-K.; Yoon, J. H.; Yurchenko, V.; Zaccolo, V.; Zaman, A.; Zampolli, C.; Zanoli, H. J. C.; Zardoshti, N.; Zarochentsev, A.; Závada, P.; Zaviyalov, N.; Zbroszczyk, H.; Zhalov, M.; Zhang, H.; Zhang, X.; Zhang, Y.; Zhang, C.; Zhang, Z.; Zhao, C.; Zhigareva, N.; Zhou, D.; Zhou, Y.; Zhou, Z.; Zhu, H.; Zhu, J.; Zhu, X.; Zichichi, A.; Zimmermann, A.; Zimmermann, M. B.; Zinovjev, G.; Zmeskal, J.; Zou, S.; Alice Collaboration

    2017-11-01

    We present the first ever measurements of femtoscopic correlations between the KS0 and K± particles. The analysis was performed on the data from Pb-Pb collisions at √{sNN} = 2.76 TeV measured by the ALICE experiment. The observed femtoscopic correlations are consistent with final-state interactions proceeding via the a0 (980) resonance. The extracted kaon source radius and correlation strength parameters for KS0 K- are found to be equal within the experimental uncertainties to those for KS0 K+. Comparing the results of the present study with those from published identical-kaon femtoscopic studies by ALICE, mass and coupling parameters for the a0 resonance are tested. Our results are also compatible with the interpretation of the a0 having a tetraquark structure instead of that of a diquark.

  17. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

    PubMed

    Dudding-Byth, Tracy; Baxter, Anne; Holliday, Elizabeth G; Hackett, Anna; O'Donnell, Sheridan; White, Susan M; Attia, John; Brunner, Han; de Vries, Bert; Koolen, David; Kleefstra, Tjitske; Ratwatte, Seshika; Riveros, Carlos; Brain, Steve; Lovell, Brian C

    2017-12-19

    Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]. Using the leave-one-out method, two research questions were specified: 1) Using two-dimensional (2D) photographs of individuals with one of 10 genetic syndromes within a database of images, did the technology correctly identify more than expected by chance: i) a top match? ii) at least one match within the top five matches? or iii) at least one in the top 10 with an individual from the same syndrome subgroup? 2) Was there concordance between correct technology-based matches and whether two out of three clinical geneticists would have considered the diagnosis based on the image alone? The computer face-matching technology correctly identifies a top match, at least one correct match in the top five and at least one in the top 10 more than expected by chance (P < 0.00001). There was low agreement between the technology and clinicians, with higher accuracy of the technology when results were discordant (P < 0.01) for all syndromes except Kabuki syndrome. Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching technology within deep phenotyping platforms to facilitate the interpretation of DNA sequencing data for individuals who remain undiagnosed despite testing the known developmental disorder genes.

  18. Empirical transfer functions: Application to determination of outermost core velocity structure using SmKS phases

    NASA Astrophysics Data System (ADS)

    Alexandrakis, Catherine; Eaton, David W.

    2007-11-01

    SmKS waves provide good resolution of outer-core velocity structure, but are affected by heterogeneity in the D'' region. We have developed an Empirical Transfer Function (ETF) technique that transforms a reference pulse (here, SmKS) into a target waveform (SKKS) by: (1) time-windowing the respective pulses, (2) applying Wiener deconvolution, and (3) convolving the output with a Gaussian waveform. Common source and path effects are implicitly removed by this process. We combine ETFs from 446 broadband seismograms to produce a global stack, from which S3KS-SKKS differential time can be measured accurately. As a result of stacking, the scatter in our measurements (0.43 s) is much less than the 1.29 s scatter in previous compilations. Although our data do not uniquely constrain outermost core velocities, we show that the fit of most standard models can be improved by perturbing the outermost core velocity. Our best-fitting model is formed using IASP91 with PREM-like velocity at the top of the core.

  19. When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome?

    PubMed

    Van Saen, D; Vloeberghs, V; Gies, I; Mateizel, I; Sermon, K; De Schepper, Jean; Tournaye, H; Goossens, E

    2018-06-01

    When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome (KS)? In KS, germ cell loss is not observed in testicular tissue from fetuses in the second semester of pregnancy but present at a prepubertal age when the testicular architecture is still normal, while fibrosis is highly present at an adolescent age. Most KS patients are azoospermic at adult age because of a massive germ cell loss. However, the timing when this germ cell loss starts is not known. It is assumed that germ cell loss increases at puberty. Therefore, testicular sperm extraction (TESE) at an adolescent age has been suggested to increase the chances of sperm retrieval at onset of spermatogenesis. However, recent data indicate that testicular biopsies from peripubertal KS patients contain only a few germ cells. In this study, we give an update on fertility preservation in adolescent KS patients and evaluate whether fertility preservation would be beneficial at prepubertal age. The possibility of retrieving testicular spermatozoa by TESE was evaluated in adolescent and adult KS men. The presence of spermatogonia and the degree of fibrosis were also analysed in testicular biopsies from KS patients at different ages. The patients were divided into four age groups: foetal (n = 5), prepubertal (aged 4-7 years; n = 4), peripubertal (aged 12-16 years; n = 20) and adult (aged 18-41 years; n = 27) KS patients. In peripubertal and adult KS patients, retrieval of spermatozoa was attempted by semen analysis after masturbation, vibrostimulation, electroejaculation or by TESE. MAGE-A4 immunohistochemistry was performed to evaluate the presence of germ cells in testicular biopsies from foetal, prepubertal, peripubertal and adult KS patients. Tissue morphology was evaluated by haematoxylin-periodic acid Schiff (H/PAS) staining. Testicular spermatozoa were collected by TESE in 48.1% of the adult KS patients, while spermatozoa were recovered after TESE in only one peripubertal patient (5

  20. The method of averages applied to the KS differential equations

    NASA Technical Reports Server (NTRS)

    Graf, O. F., Jr.; Mueller, A. C.; Starke, S. E.

    1977-01-01

    A new approach for the solution of artificial satellite trajectory problems is proposed. The basic idea is to apply an analytical solution method (the method of averages) to an appropriate formulation of the orbital mechanics equations of motion (the KS-element differential equations). The result is a set of transformed equations of motion that are more amenable to numerical solution.

  1. Effect of 1-(4-phenoxyphenoxypropyl)imidazole (KS-175) on larval growth in the silkworm Bombyx mori.

    PubMed

    Shiotsuki, T; Yukuhiro, F; Kiuchi, M; Kuwano, E

    1999-12-01

    1-(4-Phenoxyphenoxypropyl)imidazole (KS-175), which has two types of characteristic moieties of insect growth regulators (IGRs), the phenoxyphenoxyalkyl group of juvenile hormone analogs (JHAs) and imidazole of 1,5-disubstituted imidazole such as KK-42, was tested for its biological activity on the silkworm, Bombyx mori. Penultimate (4th) instar larvae topically treated with KS-175 did not molt for more than 20 days. This activity was different from that reported for any IGRs. After the treatment, ecdysteroid levels in the hemolymph did not increase and the cells of the prothoracic gland had shrunk. When the treated penultimate larvae were fed an artificial diet supplemented with 20 ppm of 20-hydroxyecdysone, the larvae molted to the ultimate (5th) instar with a timing similar to that of control larvae fed a diet with or without 20-hydroxyecdysone. These results suggest that topical application of KS-175 irreversibly damages ecdysone biosynthesis in the prothoracic glands.

  2. Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years.

    PubMed

    Arditi, Jessica D; Thomaidis, Loretta; Frysira, Helen; Doulgeraki, Artemis; Chrousos, George P; Kanaka-Gantenbein, Christina

    2017-07-26

    Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood. We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of the FGFR3 gene. During his first assessment, a karyotype was performed, which also revealed coexistence of KS. He was followed by our pediatric endocrinology team until the age of 16 years, then he was gradually transferred to adult endocrine care. This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels.

  3. Detection of secondary eclipses of WASP-10b and Qatar-1b in the Ks band and the correlation between Ks-band temperature and stellar activity.

    NASA Astrophysics Data System (ADS)

    Cruz, Patricia; Barrado, David; Lillo-Box, Jorge; Diaz, Marcos; López-Morales, Mercedes; Birkby, Jayne; Fortney, Jonathan J.; Hodgkin, Simon

    2017-10-01

    The Calar Alto Secondary Eclipse study was a program dedicated to observe secondary eclipses in the near-IR of two known close-orbiting exoplanets around K-dwarfs: WASP-10b and Qatar-1b. Such observations reveal hints on the orbital configuration of the system and on the thermal emission of the exoplanet, which allows the study of the brightness temperature of its atmosphere. The observations were performed at the Calar Alto Observatory (Spain). We used the OMEGA2000 instrument (Ks band) at the 3.5m telescope. The data was acquired with the telescope strongly defocused. The differential light curve was corrected from systematic effects using the Principal Component Analysis (PCA) technique. The final light curve was fitted using an occultation model to find the eclipse depth and a possible phase shift by performing a MCMC analysis. The observations have revealed a secondary eclipse of WASP-10b with depth of 0.137%, and a depth of 0.196% for Qatar-1b. The observed phase offset from expected mid-eclipse was of -0.0028 for WASP-10b, and of -0.0079 for Qatar-1b. These measured offsets led to a value for |ecosω| of 0.0044 for the WASP-10b system, leading to a derived eccentricity which was too small to be of any significance. For Qatar-1b, we have derived a |ecosω| of 0.0123, however, this last result needs to be confirmed with more data. The estimated Ks-band brightness temperatures are of 1647 K and 1885 K for WASP-10b and Qatar-1b, respectively. We also found an empirical correlation between the (R'HK) activity index of planet hosts and the Ks-band brightness temperature of exoplanets, considering a small number of systems.

  4. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

    PubMed

    Lai-Cheong, J E; Ussar, S; Arita, K; Hart, I R; McGrath, J A

    2008-09-01

    Kindler syndrome (KS) results from pathogenic loss-of-function mutations in the KIND1 gene, which encodes kindlin-1, a focal adhesion and actin cytoskeleton-related protein. How and why abnormalities in kindlin-1 disrupt keratinocyte cell biology in KS, however, is not yet known. In this study, we identified two previously unreported binding proteins of kindlin-1: kindlin-2 and migfilin. Co-immunoprecipitation and confocal microscopy studies show that these three proteins bind to each other and colocalize at focal adhesion in HaCaT cells and normal human keratinocytes. Moreover, loss-of-function mutations in KIND1 result in marked variability in kindlin-1 immunolabeling in KS skin, which is mirrored by similar changes in kindlin-2 and migfilin immunoreactivity. Kindlin-1, however, may function independently of kindlin-2 and migfilin, as loss of kindlin-1 expression in HaCaT keratinocytes by RNA interference and in KS keratinocytes does not affect KIND2 or FBLIM1 (migfilin) gene expression or kindlin-2 and migfilin protein localization. In addition to identifying protein-binding partners for kindlin-1, this study also highlights that KIND1 gene expression and kindlin-1 protein labeling are not always reduced in KS, findings that are relevant to the accurate laboratory diagnosis of this genodermatosis by skin immunohistochemistry.

  5. 78 FR 47239 - Proposed Amendment of Class E Airspace; Washington, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-05

    ...-0584; Airspace Docket No. 13-ACE-6] Proposed Amendment of Class E Airspace; Washington, KS AGENCY.../Airspace Docket No. 13- ACE-6, at the beginning of your comments. You may also submit comments through the... No. 13-ACE-6.'' The postcard will be date/time stamped and returned to the commenter. Availability of...

  6. 78 FR 25229 - Proposed Establishment of Class E Airspace; Stockton, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-30

    ...-0274; Airspace Docket No. 13-ACE-2] Proposed Establishment of Class E Airspace; Stockton, KS AGENCY... the docket number FAA-2013-0274/Airspace Docket No. 13- ACE-2, at the beginning of your comments. You... No. FAA-2013-0274/ Airspace Docket No. 13-ACE-2.'' The postcard will be date/time stamped and...

  7. Cognitive performance of detoxified alcoholic Korsakoff syndrome patients remains stable over two years.

    PubMed

    Fujiwara, Esther; Brand, Matthias; Borsutzky, Sabine; Steingass, Hans-P; Markowitsch, Hans J

    2008-07-01

    Excessive alcohol consumption is assumed to promote cognitive decline, eventually increasing the risk of dementia. However, little is known about the time course of cognitive functions in patients with chronic alcoholic Korsakoff syndrome (KS). Therefore, we assessed neuropsychological performance in 20 detoxified chronic KS inpatients at time 1 (T1) with a follow-up after two years (T2). The neuropsychological tests assessed verbal and visual short- and long-term memory, working memory, basic executive functions, language, general knowledge, and visual-spatial abilities. Surveys with caregivers and medical records provided information about current and previous disease-related parameters, drinking history, additional pathologies, as well as psychosocial and cognitive therapy within the two-year period. At both sessions, the majority of the KS patients' results were inferior to those of normal subjects. Comparing T1 and T2 revealed no significant decline in any of the investigated functions. Instead, general knowledge, visual long-term memory, and verbal fluency improved slightly after two years, though they still remained within pathological range. Comparing most improved and most deteriorated patients, better outcome occurred more frequently in men than women and was associated with higher premorbid education and fewer detoxifications in the past. In this sample of detoxified KS patients there was no indication of accelerated cognitive decline or onset of dementia-like symptoms over two years.

  8. Categorization abilities for emotional and nonemotional stimuli in patients with alcohol-related Korsakoff syndrome.

    PubMed

    Labudda, Kirsten; von Rothkirch, Nadine; Pawlikowski, Mirko; Laier, Christian; Brand, Matthias

    2010-06-01

    To investigate whether patients with alcohol-related Korsakoff syndrome (KR) have emotion-specific or general deficits in multicategoric classification performance. Earlier studies have shown reduced performance in classifying stimuli according to their emotional valence in patients with KS. However, it is unclear whether such classification deficits are of emotion-specific nature or whether they can also occur when nonemotional classifications are demanded. In this study, we examined 35 patients with alcoholic KS and 35 healthy participants with the Emotional Picture Task (EPT) to assess valence classification performance, the Semantic Classification Task (SCT) to assess nonemotional categorizations, and an extensive neuropsychologic test battery. KS patients exhibited lower classification performance in both tasks compared with the healthy participants. EPT and SCT performance were related to each other. EPT and SCT performance correlated with general knowledge and EPT performance in addition with executive functions. Our results indicate a common underlying mechanism of the patients' reductions in emotional and nonemotional classification performance. These deficits are most probably based on problems in retrieving object and category knowledge and, partially, on executive functioning.

  9. Functional characterization of recombinant prefoldin complexes from a hyperthermophilic archaeon, Thermococcus sp. strain KS-1.

    PubMed

    Iizuka, Ryo; Sugano, Yuri; Ide, Naoki; Ohtaki, Akashi; Yoshida, Takao; Fujiwara, Shinsuke; Imanaka, Tadayuki; Yohda, Masafumi

    2008-03-28

    Prefoldin is a heterohexameric molecular chaperone complex that is found in the eukaryotic cytosol and also in archaea. It captures a nonnative protein and subsequently delivers it to a group II chaperonin for proper folding. Archaeal prefoldin is a heterocomplex containing two alpha subunits and four beta subunits with the structure of a double beta-barrel assembly, with six long coiled coils protruding from it like a jellyfish with six tentacles. We have studied the protein folding mechanism of group II chaperonin using those of Thermococcus sp. strain KS-1 (T. KS-1) because they exhibit high protein folding activity in vitro. We have also demonstrated functional cooperation between T. KS-1 chaperonins and prefoldin from Pyrococcus horikoshii OT3. Recent genome analysis has shown that Thermococcus kodakaraensis KOD1 contains two pairs of prefoldin subunit genes, correlating with the existence of two different chaperonin subunits. In this study, we characterized four different recombinant prefoldin complexes composed of two pairs of prefoldin subunits (alpha1, alpha2, beta1, and beta2) from T. KS-1. All of them (alpha1-beta1, alpha2-beta1, alpha1-beta2, and alpha2-beta2) exist as alpha(2)beta(4) heterohexamers and can protect several proteins from forming aggregates with different activities. We have also compared the collaborative activity between the prefoldin complexes and the cognate chaperonins. Prefoldin complexes containing the beta1 subunit interacted with the chaperonins more strongly than those with the beta2 subunit. The results suggest that Thermococcus spp. express different prefoldins for different substrates or conditions as chaperonins.

  10. Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin–neurexin hypothesis

    PubMed Central

    Bishop, Dorothy VM; Scerif, Gaia

    2011-01-01

    Aim To compare the phenotype in Klinefelter syndrome (KS) with (i) specific language impairment (SLI) and (ii) XXX and XYY trisomies. Methods Phenotypes of KS, XXX and XYY were based on data from a systematic review of neurodevelopmental outcomes plus a recent parent survey. Phenotype of SLI was based on a published survey of children attending a special school. Results There are close similarities between the KS phenotype and SLI. Furthermore, a minority of children with KS have features of autistic spectrum disorder. Similar language and communication problems are seen in the other two sex chromosome trisomies (SCTs), XXX and XYY. Conclusion We propose the neurexin–neuroligin hypothesis, based on the observation that neuroligin genes, which occur on both X and Y chromosomes, are involved in the same synaptic networks as neurexin genes with common variants that affect risk for SLI and autism. According to our hypothesis, the effect of a triple dose of neuroligin gene product will be particularly detrimental when it occurs in conjunction with specific variants of neurexin genes on other chromosomes. This speculative proposal demonstrates the potential of illuminating the aetiology of common neurodevelopmental disorders by studying children with SCTs. PMID:21418292

  11. The effect of errorless learning on quality of life in patients with Korsakoff's syndrome.

    PubMed

    Rensen, Yvonne Cm; Egger, Jos Im; Westhoff, Josette; Walvoort, Serge Jw; Kessels, Roy Pc

    2017-01-01

    Errorless learning (EL) is a promising rehabilitation principle for (re)learning instrumental activities in patients with amnesia, including patients with Korsakoff's syndrome (KS). Successfully (re)learning tasks might improve the sense of competence and independence, and subsequently the quality of life. Quality of life in patients with KS has received limited attention, and no studies have been conducted to experimentally examine the effect of EL on quality of life in patients in this patient group. The QUALIDEM, an observation scale for quality of life, was completed by professional nurses before and after EL training in a group of fifty-one patients with KS. This scale was also completed for a group of thirty-one control patients receiving care as usual but no EL training. Quality of life was significantly increased on eight of the nine subscales in the Korsakoff group who participated in an EL training. There was a trend toward a significant increase in "positive affect" (ie, the ninth subscale). In contrast, no changes over time were found on any of the subscales in the control group that did not participate in any EL training. Despite severe memory impairments, patients with KS still have the potential to (partially) (re)learn tasks using EL. This potential should be exploited, as the successes of (re)-learning might improve the quality of life of Korsakoff patients in nursing homes.

  12. Atomistic study on the FCC/BCC interface structure with {112}KS orientation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Kang, Keonwook; Beyerlein, Irene; Han, Weizhong

    2011-09-23

    In this study, atomistic simulation is used to explore the atomic interface structure, the intrinsic defect network, and mechanism of twin formation from the {112}KS Cu-Nb interface. The interface structure of different material systems AI-Fe and AI-Nb are also compared with Cu-Nb interface.

  13. Immune reconstitution inflammatory syndrome associated with Kaposi sarcoma: higher incidence and mortality in Africa than in the UK.

    PubMed

    Letang, Emilio; Lewis, James J; Bower, Mark; Mosam, Anisa; Borok, Margareth; Campbell, Thomas B; Naniche, Denise; Newsom-Davis, Tom; Shaik, Fahmida; Fiorillo, Suzanne; Miro, Jose M; Schellenberg, David; Easterbrook, Philippa J

    2013-06-19

    To assess the incidence, predictors, and outcomes of Kaposi sarcoma-associated paradoxical immune reconstitution inflammatory syndrome (KS-IRIS) in antiretroviral therapy (ART)-naive HIV-infected patients with Kaposi sarcoma initiating ART in both well resourced and limited-resourced settings. Pooled analysis of three prospective cohorts of ART-naive HIV-infected patients with Kaposi sarcoma from sub-Saharan Africa (SSA) and one from the UK. KS-IRIS case definition was standardized across sites. Cox regression and Kaplan-Meier survival analysis were used to identify the incidence and predictors of KS-IRIS and Kaposi sarcoma-associated mortality. Fifty-eight of 417 (13.9%) eligible individuals experienced KS-IRIS with an incidence 2.5 times higher in the African vs. European cohorts (P=0.001). ART alone as initial Kaposi sarcoma treatment (hazard ratio 2.97, 95% confidence interval (CI) 1.02-8.69); T1 Kaposi sarcoma stage (hazard ratio 2.96, 95% CI 1.26-6.94); and plasma HIV-1 RNA more than 5 log₁₀ copies/ml (hazard ratio 2.14, 95% CI 1.25-3.67) independently predicted KS-IRIS at baseline. Detectable plasma Kaposi sarcoma-associated herpes virus (KSHV) DNA additionally predicted KS-IRIS among the 259 patients with KSHV DNA assessed (hazard ratio 2.98, 95% CI 1.23-7.19). Nineteen KS-IRIS patients died, all in SSA. Kaposi sarcoma mortality was 3.3-fold higher in Africa, and was predicted by KS-IRIS (hazard ratio 19.24, CI 7.62-48.58), lack of chemotherapy (hazard ratio 2.35, 95% CI 1.09-5.05), pre-ART CD4 cell count less than 200 cells/μl (hazard ratio 2.04, 95% CI 0.99-4.2), and detectable baseline KSHV DNA (hazard ratio 2.12, 95% CI 0.94-4.77). KS-IRIS incidence and mortality are higher in SSA than in the UK. This is largely explained by the more advanced Kaposi sarcoma disease and lower chemotherapy availability. KS-IRIS is a major contributor to Kaposi sarcoma-associated mortality in Africa. Our results support the need to increase awareness on KS

  14. A history of undescended testes in young men with Klinefelter syndrome does not reduce the chances for successful microsurgical testicular sperm extraction.

    PubMed

    Ragab, M W; Cremers, J-F; Zitzmann, M; Nieschlag, E; Kliesch, S; Rohayem, J

    2018-06-21

    Klinefelter syndrome (KS) and undescended testes (UDT) are known etiologies for non-obstructive azoospermia (NOA), and coexistence of both etiologies is not uncommon. Patients with both KS and a history of UDT are therefore considered to have extremely reduced chances for paternity. We aimed to analyze the impact of previous surgically corrected unilateral or bilateral UDT on sperm retrieval rates (SRRs) by microsurgical testicular sperm extraction (mTESE) in azoospermic men with KS. Age, testicular volumes, and hypothalamo-pituitary-gonadal axis function were investigated in relation to SRRs in 29 non-mosaic KS patients (47,XXY) with a history of UDT (group 1) who underwent mTESE between 2008 and 2016 in our center and compared to the data of age- and serum testosterone-matched non-mosaic KS controls with eutopic testes at birth (group 2), and to those of 51 men with NOA and a normal male karyotype (46,XY), but previous UDT (group 3). SRRs in KS patients with surgically corrected UDT during childhood were comparable to SRRs of KS patients with eutopic testes at birth: 31% (35% in unilateral and 22% in bilateral UDT) vs. 38% (p = 0.581). SRRs and Leydig cell function in group 1 were negatively correlated with age. Significantly higher SRRs (66%) were found in euploid azoospermic men with surgically corrected UDT (p < 0.001). A history of UDT does not preclude chances for future fatherhood in young azoospermic males with KS. In one of three men with previous unilateral UDT and in one of 4-5 in those with previous bilateral UDT, spermatozoa can be harvested by mTESE during late adolescence or young adulthood for immediate or future use in assisted reproduction. © 2018 American Society of Andrology and European Academy of Andrology.

  15. Thermodynamic properties of Kehagias-Sfetsos black hole and KS/CFT correspondence

    NASA Astrophysics Data System (ADS)

    Pradhan, Parthapratim

    2017-11-01

    We speculate on various thermodynamic features of the inner horizon ({\\mathcal H}-) and outer horizons ({\\mathcal H}+) of Kehagias-Sfetsos (KS) black hole (BH) in the background of the Hořava-Lifshitz gravity. We compute particularly the area product, area sum, area minus and area division of the BH horizons. We find that they all are not showing universal behavior whereas the product is a universal quantity (PRADHAN P., Phys. Lett. B, 747 (2015) 64). Based on these relations, we derive the area bound of all horizons. From the area bound we derive the entropy bound and irreducible mass bound for all the horizons ({\\mathcal H}+/-) . We also observe that the first law of BH thermodynamics and Smarr-Gibbs-Duhem relations do not hold for this BH. The underlying reason behind this failure is due to the scale invariance of the coupling constant. Moreover, we compute the Cosmic-Censorship-Inequality for this BH which gives the lower bound for the total mass of the spacetime and it is supported by the cosmic cencorship conjecture. Finally, we discuss the KS/CFT correspondence via a thermodynamic procedure.

  16. Prevalence and severity of behavioural symptoms in patients with Korsakoff syndrome and other alcohol-related cognitive disorders: a systematic review.

    PubMed

    Gerridzen, Ineke J; Moerman-van den Brink, Wiltine G; Depla, Marja F; Verschuur, Els M L; Veenhuizen, Ruth B; van der Wouden, Johannes C; Hertogh, Cees M P M; Joling, Karlijn J

    2017-03-01

    Experiences from clinical practice suggest that behavioural symptoms in patients with Korsakoff syndrome (KS) are a frequent problem. Knowledge about behavioural symptoms is important in understanding and managing these symptoms. The aim of this study is to review the prevalence and severity of behavioural symptoms in KS. Relevant articles were identified by searching Medline (PubMed), PsycINFO, Embase and CINAHL up to 4 June 2014. Two reviewers independently selected the studies, extracted their baseline data and assessed methodological quality using a standardized checklist. Fifteen studies fulfilled the inclusion criteria. A diversity of diagnoses was used indicating that KS and other alcohol-related cognitive disorders and terms were used interchangeably. None of the studies were primarily designed to estimate the prevalence or severity of behavioural symptoms in patients with KS. Most studies had serious methodological limitations. The reported prevalence estimates of behavioural symptoms in the included studies varied strongly. Most prevalent were depressive symptoms and disorders (2-50%, median 27%) and agitation and aggression (10-54%, median 27%). None of the reported, mean severity estimates met pathological thresholds. The highest severity estimates were found for apathy. Good quality studies on behavioural symptoms in patients with KS are lacking. Observational research designed to provide reliable estimates of the prevalence and severity of behavioural symptoms in patients with KS is needed. This could improve understanding and managing these symptoms and help care staff to better support the needs of this specific patient group. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  17. SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

    PubMed

    Hanchate, Naresh Kumar; Giacobini, Paolo; Lhuillier, Pierre; Parkash, Jyoti; Espy, Cécile; Fouveaut, Corinne; Leroy, Chrystel; Baron, Stéphanie; Campagne, Céline; Vanacker, Charlotte; Collier, Francis; Cruaud, Corinne; Meyer, Vincent; García-Piñero, Alfons; Dewailly, Didier; Cortet-Rudelli, Christine; Gersak, Ksenija; Metz, Chantal; Chabrier, Gérard; Pugeat, Michel; Young, Jacques; Hardelin, Jean-Pierre; Prevot, Vincent; Dodé, Catherine

    2012-08-01

    Kallmann syndrome (KS) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. The genetics of KS involves various modes of transmission, including oligogenic inheritance. Here, we report that Nrp1(sema/sema) mutant mice that lack a functional semaphorin-binding domain in neuropilin-1, an obligatory coreceptor of semaphorin-3A, have a KS-like phenotype. Pathohistological analysis of these mice indeed showed abnormal development of the peripheral olfactory system and defective embryonic migration of the neuroendocrine GnRH cells to the basal forebrain, which results in increased mortality of newborn mice and reduced fertility in adults. We thus screened 386 KS patients for the presence of mutations in SEMA3A (by Sanger sequencing of all 17 coding exons and flanking splice sites) and identified nonsynonymous mutations in 24 patients, specifically, a frameshifting small deletion (D538fsX31) and seven different missense mutations (R66W, N153S, I400V, V435I, T688A, R730Q, R733H). All the mutations were found in heterozygous state. Seven mutations resulted in impaired secretion of semaphorin-3A by transfected COS-7 cells (D538fsX31, R66W, V435I) or reduced signaling activity of the secreted protein in the GN11 cell line derived from embryonic GnRH cells (N153S, I400V, T688A, R733H), which strongly suggests that these mutations have a pathogenic effect. Notably, mutations in other KS genes had already been identified, in heterozygous state, in five of these patients. Our findings indicate that semaphorin-3A signaling insufficiency contributes to the pathogenesis of KS and further substantiate the oligogenic pattern of inheritance in this developmental disorder.

  18. Measurement of time-dependent C P asymmetries in B0→KS0η γ decays

    NASA Astrophysics Data System (ADS)

    Nakano, H.; Ishikawa, A.; Sumisawa, K.; Yamamoto, H.; Adachi, I.; Aihara, H.; Al Said, S.; Asner, D. M.; Aulchenko, V.; Aushev, T.; Ayad, R.; Babu, V.; Badhrees, I.; Bansal, V.; Behera, P.; Beleño, C.; Bhuyan, B.; Bilka, T.; Biswal, J.; Bozek, A.; Bračko, M.; Červenkov, D.; Chekelian, V.; Cheon, B. G.; Chilikin, K.; Cho, K.; Choi, S.-K.; Choi, Y.; Choudhury, S.; Cinabro, D.; Cunliffe, S.; Dash, N.; Di Carlo, S.; Doležal, Z.; Eidelman, S.; Fast, J. E.; Ferber, T.; Fulsom, B. G.; Garg, R.; Gaur, V.; Gabyshev, N.; Garmash, A.; Gelb, M.; Giri, A.; Goldenzweig, P.; Guan, Y.; Guido, E.; Haba, J.; Hara, T.; Hayasaka, K.; Hayashii, H.; Hedges, M. T.; Hirose, S.; Hou, W.-S.; Iijima, T.; Inami, K.; Inguglia, G.; Itoh, R.; Iwasaki, M.; Iwasaki, Y.; Jacobs, W. W.; Jaegle, I.; Jeon, H. B.; Jia, S.; Jin, Y.; Julius, T.; Kaliyar, A. B.; Karyan, G.; Kawasaki, T.; Kiesling, C.; Kim, D. Y.; Kim, H. J.; Kim, J. B.; Kim, K. T.; Kim, S. H.; Kinoshita, K.; Kodyš, P.; Korpar, S.; Kotchetkov, D.; Križan, P.; Kroeger, R.; Krokovny, P.; Kuhr, T.; Kulasiri, R.; Kumita, T.; Kwon, Y.-J.; Lange, J. S.; Lee, I. S.; Lee, S. C.; Li, L. K.; Li, Y.; Li, Y. B.; Li Gioi, L.; Libby, J.; Liventsev, D.; Lubej, M.; Luo, T.; MacNaughton, J.; Masuda, M.; Matsuda, T.; Merola, M.; Miyabayashi, K.; Miyata, H.; Mizuk, R.; Mohanty, G. B.; Moon, H. K.; Mussa, R.; Nakano, E.; Nakao, M.; Nanut, T.; Nath, K. J.; Natkaniec, Z.; Nayak, M.; Niiyama, M.; Nishida, S.; Ogawa, S.; Okuno, S.; Ono, H.; Pakhlov, P.; Pakhlova, G.; Pal, B.; Pardi, S.; Park, H.; Paul, S.; Pedlar, T. K.; Pestotnik, R.; Piilonen, L. E.; Popov, V.; Ritter, M.; Rostomyan, A.; Russo, G.; Sahoo, D.; Sakai, Y.; Salehi, M.; Sandilya, S.; Santelj, L.; Sanuki, T.; Savinov, V.; Schneider, O.; Schnell, G.; Schwanda, C.; Schwartz, A. J.; Seino, Y.; Senyo, K.; Sevior, M. E.; Shebalin, V.; Shen, C. P.; Shibata, T.-A.; Shimizu, N.; Shiu, J.-G.; Shwartz, B.; Simon, F.; Sokolov, A.; Solovieva, E.; Stanič, S.; Starič, M.; Strube, J. F.; Sumihama, M.; Sumiyoshi, T.; Takizawa, M.; Tamponi, U.; Tanida, K.; Tenchini, F.; Trabelsi, K.; Uchida, M.; Uglov, T.; Uno, S.; Urquijo, P.; Usov, Y.; Van Hulse, C.; Varner, G.; Vorobyev, V.; Vossen, A.; Wang, B.; Wang, C. H.; Wang, M.-Z.; Wang, P.; Wang, X. L.; Watanabe, M.; Widmann, E.; Won, E.; Ye, H.; Yuan, C. Z.; Yusa, Y.; Zakharov, S.; Zhang, Z. P.; Zhilich, V.; Zhukova, V.; Zhulanov, V.; Zupanc, A.; Belle Collaboration

    2018-05-01

    We report a measurement of time-dependent C P violation parameters in B0→KS0η γ decays. The study is based on a data sample, containing 772 ×106B B ¯ pairs, that was collected at the ϒ (4 S ) resonance with the Belle detector at the KEKB asymmetric-energy e+e- collider. We obtain the C P violation parameters of S =-1.32 ±0.77 (stat ) ±0.36 (syst ) and A =-0.48 ±0.41 (stat ) ±0.07 (syst ) for the invariant mass of the KS0η system up to 2.1 GeV /c2 .

  19. Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

    PubMed

    Poplinski, Andreas; Wieacker, Peter; Kliesch, Sabine; Gromoll, Jörg

    2010-01-01

    46,XX-maleness affects 1 in 20 000 live male newborns resulting in infertility and hypergonadotrophic hypogonadism. Although the phenotypes of XX-males have been well described, the molecular nature of the X chromosomes remains elusive. We assessed the X inactivation status by DNA methylation analysis of four informative loci and compared those to Klinefelter syndrome (KS) and Turner syndrome. Patient cohort consisted of ten sex-determining region of the Y (SRY+) XX-males, two (SRY-) XX-males, ten 47,XXY Klinefelter men, six 45,X Turner females and ten male and female control individuals each. Methylation analysis was carried out by bisulphite sequencing of DNA from peripheral blood lymphocytes analysing X-inactive-specific transcript (XIST), phosphoglycerate kinase 1 (PGK1), ferritin, heavy peptide-like 17 (FTHL17) and short stature homeobox (SHOX). XIST methylation was 18% in (SRY+) XX-males, and thus they were severely hypomethylated compared to (SRY-) XX-males (48%; P<0.01), Klinefelter men (44%; P<0.01) and female controls (47%; P<0.01). Turner females and male controls displayed a high degree of XIST methylation of 98 and 94% respectively. Methylation of PGK1, undergoing X inactivation, was not significantly reduced in (SRY+) XX-males compared to female controls in spite of severe XIST hypomethylation (51 vs 69%; P>0.05). FTHL17, escaping X inactivation, but undergoing cell-type-specific inactivation was similarly methylated in XX-males (89%), KS patients (87%) and female controls (90%). SHOX, an X inactivation escapee located in the pseudoautosomal region, displays similarly low degrees of methylation for XX-males (7%), KS patients (7%) and female controls (9%). XIST hypomethylation clearly distinguishes (SRY+) XX-males from Klinefelter men. It does not, however, impair appropriate epigenetic regulation of representative X-linked loci.

  20. Contraction of high eccentricity satellite orbits using uniformly regular KS canonical elements with oblate diurnally varying atmosphere.

    NASA Astrophysics Data System (ADS)

    Raj, Xavier James

    2016-07-01

    Accurate orbit prediction of an artificial satellite under the influence of air drag is one of the most difficult and untraceable problem in orbital dynamics. The orbital decay of these satellites is mainly controlled by the atmospheric drag effects. The effects of the atmosphere are difficult to determine, since the atmospheric density undergoes large fluctuations. The classical Newtonian equations of motion, which is non linear is not suitable for long-term integration. Many transformations have emerged in the literature to stabilize the equations of motion either to reduce the accumulation of local numerical errors or allowing the use of large integration step sizes, or both in the transformed space. One such transformation is known as KS transformation by Kustaanheimo and Stiefel, who regularized the nonlinear Kepler equations of motion and reduced it into linear differential equations of a harmonic oscillator of constant frequency. The method of KS total energy element equations has been found to be a very powerful method for obtaining numerical as well as analytical solution with respect to any type of perturbing forces, as the equations are less sensitive to round off and truncation errors. The uniformly regular KS canonical equations are a particular canonical form of the KS differential equations, where all the ten KS Canonical elements αi and βi are constant for unperturbed motion. These equations permit the uniform formulation of the basic laws of elliptic, parabolic and hyperbolic motion. Using these equations, developed analytical solution for short term orbit predictions with respect to Earth's zonal harmonic terms J2, J3, J4. Further, these equations were utilized to include the canonical forces and analytical theories with air drag were developed for low eccentricity orbits (e < 0.2) with different atmospheric models. Using uniformly regular KS canonical elements developed analytical theory for high eccentricity (e > 0.2) orbits by assuming the

  1. Patients with Korsakoff syndrome in nursing homes: characteristics, comorbidity, and use of psychotropic drugs.

    PubMed

    Gerridzen, Ineke J; Goossensen, M Anne

    2014-01-01

    Very limited literature exists on the care and course of patients with Korsakoff syndrome (KS) living in long-term care facilities (LTCFs). Even less literature can be found on the pharmacological treatment of behavioral symptoms of KS. The purpose of the present study was to describe baseline characteristics, comorbidity, and the use of psychotropic drugs in institutionalized patients with KS. In this cross-sectional descriptive study, 556 patients were included living in ten specialized care units in Dutch nursing homes. Data were collected by means of a retrospective chart review. The majority of patients were men (75%) and single (78%) with a mean age on admission of 56.7 years (SD 8.9, range 29.8-85.3). Mean length of stay was 6.0 years (SD 5.4, range 0.2-33.3). Sixty-eight percent of patients suffered from at least one somatic disease and 66% from at least one extra psychiatric disorder. One or more psychotropic drugs were prescribed to 71% of patients with a great variation in prescription patterns between the different nursing homes. Patients with KS depending on long-term care usually have comorbidity in more than one domain (somatic and psychiatric). The indications for prescribing psychotropic drugs are in many cases unclear and it seems probable that they are often given to manage challenging behavior. Longitudinal studies on the evidence for this prescription behavior and possible alternatives are recommended.

  2. Regional variations in hospital management and post-discharge mortality in patients with non-ST-segment elevation acute coronary syndrome.

    PubMed

    Bueno, Héctor; Rossello, Xavier; Pocock, Stuart; Van de Werf, Frans; Chin, Chee Tang; Danchin, Nicolas; Lee, Stephen W-L; Medina, Jesús; Vega, Ana; Huo, Yong

    2018-04-16

    Therapeutic variability not explained by patient clinical characteristics is a potential source of avoidable morbidity and mortality. We aimed to explore regional variability in the management and mortality of patients with non-ST-segment elevation acute coronary syndromes (NSTE-ACS). 11,931 NSTE-ACS hospital survivors enrolled in two prospective registries: EPICOR [5625 patients, 555 hospitals, 20 countries in Europe (E) and Latin America (LA), September 2010-March 2011] and EPICOR Asia (6306 patients, 218 hospitals, 8 countries, June 2011-May 2012) were compared among eight pre-defined regions: Northern E (NE), Southern E (SE), Eastern E (EE); Latin America (LA); China (CN), India (IN), South-East Asia (SA), and South Korea, Hong Kong and Singapore (KS). Patient characteristics differed between regions: mean age (lowest 59 years, IN; highest 65.9 years, SE), diabetes (21.4% NE; 35.5% IN) and smoking (32% NE; 62% IN). Variations in dual antiplatelet therapy at discharge (lowest 83.1%, IN; highest 97.5%, SA), coronary angiography (53.9% SA; 90.6% KS), percutaneous coronary intervention (35.8% SA; 78.6% KS) and coronary artery bypass graft (0.7% KS; 5.7% NE) were observed. Unadjusted 2-year mortality ranged between 3.8% in KS and 11.7% in SE. Two-year, risk-adjusted mortality rates ranged between 5.1% (95% confidence interval 2.9-7.3%) in KS to 10.5% (8.3-12.7%) in LA. Wide regional variations in patient features, hospital care, coronary revascularization and post-discharge mortality are present among patients hospitalized for NSTE-ACS. Focused regional interventions to improve the quality of care for NSTE-ACS patients are still needed.

  3. Imbalance between cognitive systems in alcohol-dependence and Korsakoff syndrome: An exploration using the Alcohol Flanker Task.

    PubMed

    Brion, Mélanie; Dormal, Valérie; Lannoy, Séverine; Mertens, Serge; de Timary, Philippe; Maurage, Pierre

    2018-03-06

    Alcohol-dependent individuals (ALC) simultaneously present decreased inhibitory control and increased attention towards alcohol-related cues. The dual-process models have proposed that these symptoms reflect an imbalance between prefrontal/reflective and limbic/automatic systems, respectively leading to cognitive dysfunctions in executive processes and to alcohol-related bias. However, most previous research has focused on a separate exploration of these systems among ALC, and the direct measure of their interactions remains to be conducted. Moreover, no study has explored the evolution of this imbalance across the successive stages of alcohol-related disorders, and particularly in Korsakoff syndrome (KS), the most frequent neurological complication of alcohol-dependence. Ten KS, 14 ALC, and 14 matched control participants performed a modified Flanker task, the "Alcohol Flanker Task," based on congruent, incongruent, and neutral conditions with alcohol-related stimuli. This task required inhibitory processing on alcohol-related stimuli and evaluated, through a behavioral approach, the interaction between reflective and automatic systems, as well as its evolution between ALC and KS. ALC and KS both presented high reactivity towards alcohol-related stimuli, confirming the presence of alcohol-related bias. KS showed increased omission rates (related to distractor interference) while ALC showed higher false-alarm rates (related to prepotent response inhibition). These results suggest that different inhibitory subcomponents might be altered at the successive stages of the pathology, and experimentally confirms the crucial role of the interaction between reflective and automatic processes in alcohol-use disorders. The present results reinforce the proposal that alcohol-related cues significantly impact inhibitory control in alcohol-related disorders. However, ALC and KS present different patterns of deficits depending on task complexity (i.e., executive load), thus

  4. Successful Multi-Leg Completion of KS-13 ML-1 & Increased Power Generation of Puna Geothermal Venture (PGV), Hawai'i

    NASA Astrophysics Data System (ADS)

    Drakos, P. S.; Spielman, P.; Peters, B.

    2017-12-01

    Located in the Puna district on the Big Island in Hawaii, Puna Geothermal Venture (PGV) is the only geothermal power plant in the state. PGV is comprised of two air-cooled power plants with a total generating capacity of 38 MW. Commercial operation commenced in 1993 and the project was acquired by Ormat in June 2004. Over the years, generation has increased by upgrading the plant through resource development and with the addition of a bottoming OEC (Ormat Energy Converter) in 2011. The geothermal reservoir at PGV is hosted within a step-over along the axis of the Kilauea Lower East Rift Zone (LERZ). Subsurface permeability at PGV is controlled by sub-vertical and rift-parallel fractures/faults and dike swarms which are the result of active tectonic dilation across the rift and shallow volcanic activity related to Kilauea. At PGV, the location and attitude of these fractures are well constrained at depth by drilling to be orientated at N63°E and dipping at 5° NW. These fractures are aligned en-echelon and form a major left-step along the rift axis which results in a localized zone of enhanced dilation. In 2016, a program was initiated to increase injection capacity and enthalpy in the PGV wellfield. Existing injection well KS-13 was selected as a candidate for re-drill based on a comprehensive resource model and reservoir modeling predictions. KS-13 ML1 was designed as a multi-leg completion from the existing KS-13 well, whereby the final completion is a forked well composed of the original wellbore and the newly completed second wellbore. The target area for the new multi-leg (ML) were large aperture, steeply dipping fractures associated with the 1955 eruptive fissure. Well KS-13 ML1 was drilled using PGV's Rig and a retrievable whipstock to mill a casing exit window. With the original wellbore temporarily plugged, a multi-rate water loss test was performed and an injectivity of 6 gpm/psi was measured. Following the removal of the whipstock ramp and packer from

  5. Cp Asymmetries of B → ϕK0 and B → η'KS Decays in SUSY Models

    NASA Astrophysics Data System (ADS)

    Dutta, Bhaskar; Kim, C. S.; Oh, Sechul; Zhu, Guohuai

    2005-04-01

    CP asymmetries of B → ϕK and B → η(')K modes are analyzed in the QCD improved factorization framework. The phenomenological parameters are determined from the global fit for the available B → PP and V P modes (without the subprocess b -> sbar {s}s). The possible deviation of sin(2ϕ1)ϕK0, η'Ks from sin(2ϕ1)J/ΨKs and the large branching ratio for B± → η'K± can be simultaneously explained in the context of R-parity conserving SUGRA models and R-parity violating SUSY models.

  6. FERMT1 promoter mutations in patients with Kindler syndrome.

    PubMed

    Has, C; Chmel, N; Levati, L; Neri, I; Sonnenwald, T; Pigors, M; Godbole, K; Dudhbhate, A; Bruckner-Tuderman, L; Zambruno, G; Castiglia, D

    2015-09-01

    Mutations in the FERMT1 gene, encoding the focal adhesion protein kindlin-1 underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with a phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. The FERMT1 mutational spectrum comprises gross genomic deletions, splice site, nonsense, and frameshift mutations, which are scattered over the coding region spanning exon 2-15. We now report three KS families with mutations affecting the promoter region of FERMT1. Two of these mutations are large deletions (∼38.0 and 1.9 kb in size) and one is a single nucleotide variant (c.-20A>G) within the 5' untranslated region (UTR). Each mutation resulted in loss of gene expression in patient skin or cultured keratinocytes. Reporter assays showed the functional relevance of the genomic regions deleted in our patients for FERMT1 gene transcription and proved the causal role of the c.-20A>G variant in reducing transcriptional activity. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Thrombophilia in Klinefelter Syndrome With Deep Venous Thrombosis, Pulmonary Embolism, and Mesenteric Artery Thrombosis on Testosterone Therapy: A Pilot Study.

    PubMed

    Glueck, Charles J; Jetty, Vybhav; Goldenberg, Naila; Shah, Parth; Wang, Ping

    2017-11-01

    We compared thrombophilia and hypofibrinolysis in 6 men with Klinefelter syndrome (KS), without previously known familial thrombophilia, who had sustained deep venous thrombosis (DVT)-pulmonary emboli (PE) or mesenteric artery thrombosis on testosterone replacement therapy (TRT). After the diagnosis of KS, TRT had been started in the 6 men at ages 11, 12, 13, 13, 19, and 48 years. After starting TRT, DVT-PE or mesenteric artery thrombosis was developed in 6 months, 1, 11, 11, 12, and 49 years. Of the 6 men, 4 had high (>150%) factor VIII (177%, 192%, 263%, and 293%), 3 had high (>150%) factor XI (165%, 181%, and 193%), 1 was heterozygous for the factor V Leiden mutation, and 1 was heterozygous for the G20210A prothrombin gene mutation. None of the 6 men had a precipitating event before their DVT-PE. We speculate that the previously known increased rate of DVT-PE and other thrombi in KS reflects an interaction between prothrombotic, long-term TRT with previously undiagnosed familial thrombophilia. Thrombophilia screening in men with KS before starting TRT would identify a cohort at increased risk for subsequent DVT-PE, providing an optimally informed estimate of the risk/benefit ratio of TRT.

  8. The effect of errorless learning on quality of life in patients with Korsakoff’s syndrome

    PubMed Central

    Rensen, Yvonne CM; Egger, Jos IM; Westhoff, Josette; Walvoort, Serge JW; Kessels, Roy PC

    2017-01-01

    Background Errorless learning (EL) is a promising rehabilitation principle for (re)learning instrumental activities in patients with amnesia, including patients with Korsakoff’s syndrome (KS). Successfully (re)learning tasks might improve the sense of competence and independence, and subsequently the quality of life. Quality of life in patients with KS has received limited attention, and no studies have been conducted to experimentally examine the effect of EL on quality of life in patients in this patient group. Materials and methods The QUALIDEM, an observation scale for quality of life, was completed by professional nurses before and after EL training in a group of fifty-one patients with KS. This scale was also completed for a group of thirty-one control patients receiving care as usual but no EL training. Results Quality of life was significantly increased on eight of the nine subscales in the Korsakoff group who participated in an EL training. There was a trend toward a significant increase in “positive affect” (ie, the ninth subscale). In contrast, no changes over time were found on any of the subscales in the control group that did not participate in any EL training. Conclusion Despite severe memory impairments, patients with KS still have the potential to (partially) (re)learn tasks using EL. This potential should be exploited, as the successes of (re)-learning might improve the quality of life of Korsakoff patients in nursing homes. PMID:29225465

  9. Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients.

    PubMed

    Trabado, Séverine; Maione, Luigi; Bry-Gauillard, Hélène; Affres, Hélène; Salenave, Sylvie; Sarfati, Julie; Bouvattier, Claire; Delemer, Brigitte; Chanson, Philippe; Le Bouc, Yves; Brailly-Tabard, Sylvie; Young, Jacques

    2014-02-01

    Insulin-like factor 3 (INSL3) is a testicular hormone secreted during fetal life, the neonatal period, and after puberty. To measure INSL3 levels in a large series of men with congenital hypogonadotropic hypogonadism (CHH)/ Kallmann syndrome (KS), in order to assess its diagnostic value and to investigate its regulation. We studied 281 CHH/KS patients (91 untreated, 96 receiving T, and 94 receiving combined gonadotropin therapy [human chorionic gonadotropin, hCG, and FSH]) and 72 age-matched healthy men. Serum INSL3 was immunoassayed with a validated RIA. Mean (±SD) INSL3 levels (pg/mL) were 659 ± 279 in controls and lower (60 ± 43; P < .001) in untreated CHH/KS patients, with no overlap between the two groups, when the threshold of 250 pg/mL was used. Basal INSL3 levels were lower in both untreated CHH/KS men with cryptorchidism than in those with intrascrotal testes and in patients with testicular volumes below 4 mL. Significant positive correlations between INSL3 and both serum total T and LH levels were observed in untreated CHH/KS. Mean INSL3 levels remained low in T-treated CHH/KS patients and were significantly higher in men receiving combined hCG-FSH therapy (P < .001), but the increase was lower cryptorchid patients. FSH-hCG combination therapy or hCG monotherapy, contrary to T and FSH monotherapies, significantly increased INSL3 levels in CHH/KS. INSL3 is as sensitive a marker as T for the evaluation of altered Leydig cell function in CHH/KS patients. INSL3 levels correlate with LH levels in CHH/KS men showing, together with the rise in INSL3 levels during hCG therapy, that INSL3 secretion seems not constitutively secreted during adulthood but is dependence on pituitary LH.

  10. Measurement of KS0 and K*0 in p +p ,d +Au , and Cu + Cu collisions at √{sNN}=200 GeV

    NASA Astrophysics Data System (ADS)

    Adare, A.; Afanasiev, S.; Aidala, C.; Ajitanand, N. N.; Akiba, Y.; Akimoto, R.; Al-Bataineh, H.; Alexander, J.; Alfred, M.; Angerami, A.; Aoki, K.; Apadula, N.; Aphecetche, L.; Aramaki, Y.; Armendariz, R.; Aronson, S. H.; Asai, J.; Asano, H.; Atomssa, E. T.; Averbeck, R.; Awes, T. C.; Azmoun, B.; Babintsev, V.; Bai, M.; Baksay, G.; Baksay, L.; Baldisseri, A.; Bandara, N. S.; Bannier, B.; Barish, K. N.; Barnes, P. D.; Bassalleck, B.; Basye, A. T.; Bathe, S.; Batsouli, S.; Baublis, V.; Baumann, C.; Bazilevsky, A.; Beaumier, M.; Beckman, S.; Belikov, S.; Belmont, R.; Bennett, R.; Berdnikov, A.; Berdnikov, Y.; Bhom, J. H.; Bickley, A. A.; Black, D.; Blau, D. S.; Boissevain, J. G.; Bok, J. S.; Borel, H.; Boyle, K.; Brooks, M. L.; Bryslawskyj, J.; Buesching, H.; Bumazhnov, V.; Bunce, G.; Butsyk, S.; Campbell, S.; Caringi, A.; Chang, B. S.; Charvet, J.-L.; Chen, C.-H.; Chernichenko, S.; Chi, C. Y.; Chiba, J.; Chiu, M.; Choi, I. J.; Choi, J. B.; Choudhury, R. K.; Christiansen, P.; Chujo, T.; Chung, P.; Churyn, A.; Chvala, O.; Cianciolo, V.; Citron, Z.; Cleven, C. R.; Cole, B. A.; Comets, M. P.; Conesa Del Valle, Z.; Connors, M.; Constantin, P.; Csanád, M.; Csörgő, T.; Dahms, T.; Dairaku, S.; Danchev, I.; Das, K.; Datta, A.; Daugherity, M. S.; David, G.; Dayananda, M. K.; Deaton, M. B.; Deblasio, K.; Dehmelt, K.; Delagrange, H.; Denisov, A.; D'Enterria, D.; Deshpande, A.; Desmond, E. J.; Dharmawardane, K. V.; Dietzsch, O.; Ding, L.; Dion, A.; Do, J. H.; Donadelli, M.; Drapier, O.; Drees, A.; Drees, K. A.; Dubey, A. K.; Durham, J. M.; Durum, A.; Dutta, D.; Dzhordzhadze, V.; D'Orazio, L.; Edwards, S.; Efremenko, Y. V.; Egdemir, J.; Ellinghaus, F.; Emam, W. S.; Engelmore, T.; Enokizono, A.; En'yo, H.; Esumi, S.; Eyser, K. O.; Fadem, B.; Feege, N.; Fields, D. E.; Finger, M.; Finger, M.; Fleuret, F.; Fokin, S. L.; Fraenkel, Z.; Frantz, J. E.; Franz, A.; Frawley, A. D.; Fujiwara, K.; Fukao, Y.; Fusayasu, T.; Gadrat, S.; Gal, C.; Gallus, P.; Garg, P.; Garishvili, I.; Ge, H.; Giordano, F.; Glenn, A.; Gong, H.; Gonin, M.; Gosset, J.; Goto, Y.; Granier de Cassagnac, R.; Grau, N.; Greene, S. V.; Grim, G.; Grosse Perdekamp, M.; Gu, Y.; Gunji, T.; Guragain, H.; Gustafsson, H.-Å.; Hachiya, T.; Hadj Henni, A.; Haegemann, C.; Haggerty, J. S.; Hahn, K. I.; Hamagaki, H.; Hamblen, J.; Han, R.; Han, S. Y.; Hanks, J.; Harada, H.; Hartouni, E. P.; Haruna, K.; Hasegawa, S.; Haslum, E.; Hayano, R.; He, X.; Heffner, M.; Hemmick, T. K.; Hester, T.; Hiejima, H.; Hill, J. C.; Hobbs, R.; Hohlmann, M.; Hollis, R. S.; Holzmann, W.; Homma, K.; Hong, B.; Horaguchi, T.; Hornback, D.; Hoshino, T.; Huang, S.; Ichihara, T.; Ichimiya, R.; Iinuma, H.; Ikeda, Y.; Imai, K.; Imazu, Y.; Inaba, M.; Inoue, Y.; Iordanova, A.; Isenhower, D.; Isenhower, L.; Ishihara, M.; Isobe, T.; Issah, M.; Isupov, A.; Ivanischev, D.; Ivanishchev, D.; Iwanaga, Y.; Jacak, B. V.; Jeon, S. J.; Jezghani, M.; Jia, J.; Jiang, X.; Jin, J.; Jinnouchi, O.; Johnson, B. M.; Jones, T.; Joo, E.; Joo, K. S.; Jouan, D.; Jumper, D. S.; Kajihara, F.; Kametani, S.; Kamihara, N.; Kamin, J.; Kaneta, M.; Kang, J. H.; Kang, J. S.; Kanou, H.; Kapustinsky, J.; Karatsu, K.; Kasai, M.; Kawall, D.; Kawashima, M.; Kazantsev, A. V.; Kempel, T.; Key, J. A.; Khachatryan, V.; Khanzadeev, A.; Kihara, K.; Kijima, K. M.; Kikuchi, J.; Kim, A.; Kim, B. I.; Kim, C.; Kim, D. H.; Kim, D. J.; Kim, E.; Kim, E.-J.; Kim, H.-J.; Kim, M.; Kim, Y.-J.; Kim, Y. K.; Kinney, E.; Kiss, Á.; Kistenev, E.; Kiyomichi, A.; Klatsky, J.; Klay, J.; Klein-Boesing, C.; Kleinjan, D.; Kline, P.; Koblesky, T.; Kochenda, L.; Kochetkov, V.; Kofarago, M.; Komkov, B.; Konno, M.; Koster, J.; Kotchetkov, D.; Kotov, D.; Kozlov, A.; Král, A.; Kravitz, A.; Kubart, J.; Kunde, G. J.; Kurihara, N.; Kurita, K.; Kurosawa, M.; Kweon, M. J.; Kwon, Y.; Kyle, G. S.; Lacey, R.; Lai, Y. S.; Lajoie, J. G.; Lebedev, A.; Lee, D. M.; Lee, J.; Lee, K. B.; Lee, K. S.; Lee, M. K.; Lee, S. H.; Lee, T.; Leitch, M. J.; Leite, M. A. L.; Leitgab, M.; Lenzi, B.; Li, X.; Lichtenwalner, P.; Liebing, P.; Lim, S. H.; Linden Levy, L. A.; Liška, T.; Litvinenko, A.; Liu, H.; Liu, M. X.; Love, B.; Lynch, D.; Maguire, C. F.; Makdisi, Y. I.; Makek, M.; Malakhov, A.; Malik, M. D.; Manion, A.; Manko, V. I.; Mannel, E.; Mao, Y.; Mašek, L.; Masui, H.; Matathias, F.; McCumber, M.; McGaughey, P. L.; McGlinchey, D.; McKinney, C.; Means, N.; Meles, A.; Mendoza, M.; Meredith, B.; Miake, Y.; Mibe, T.; Mignerey, A. C.; Mikeš, P.; Miki, K.; Miller, A. J.; Miller, T. E.; Milov, A.; Mioduszewski, S.; Mishra, D. K.; Mishra, M.; Mitchell, J. T.; Mitrovski, M.; Miyasaka, S.; Mizuno, S.; Mohanty, A. K.; Montuenga, P.; Moon, H. J.; Moon, T.; Morino, Y.; Morreale, A.; Morrison, D. P.; Moukhanova, T. V.; Mukhopadhyay, D.; Murakami, T.; Murata, J.; Mwai, A.; Nagamiya, S.; Nagata, Y.; Nagle, J. L.; Naglis, M.; Nagy, M. I.; Nakagawa, I.; Nakagomi, H.; Nakamiya, Y.; Nakamura, K. R.; Nakamura, T.; Nakano, K.; Nam, S.; Nattrass, C.; Netrakanti, P. K.; Newby, J.; Nguyen, M.; Nihashi, M.; Niida, T.; Norman, B. E.; Nouicer, R.; Novitzky, N.; Nyanin, A. S.; Oakley, C.; O'Brien, E.; Oda, S. X.; Ogilvie, C. A.; Ohnishi, H.; Oka, M.; Okada, K.; Omiwade, O. O.; Onuki, Y.; Orjuela Koop, J. D.; Oskarsson, A.; Ouchida, M.; Ozaki, H.; Ozawa, K.; Pak, R.; Pal, D.; Palounek, A. P. T.; Pantuev, V.; Papavassiliou, V.; Park, I. H.; Park, J.; Park, S.; Park, S. K.; Park, W. J.; Pate, S. F.; Patel, L.; Patel, M.; Pei, H.; Peng, J.-C.; Pereira, H.; Perepelitsa, D. V.; Perera, G. D. N.; Peresedov, V.; Peressounko, D. Yu.; Perry, J.; Petti, R.; Pinkenburg, C.; Pinson, R.; Pisani, R. P.; Proissl, M.; Purschke, M. L.; Purwar, A. K.; Qu, H.; Rak, J.; Rakotozafindrabe, A.; Ravinovich, I.; Read, K. F.; Rembeczki, S.; Reuter, M.; Reygers, K.; Reynolds, D.; Riabov, V.; Riabov, Y.; Richardson, E.; Riveli, N.; Roach, D.; Roche, G.; Rolnick, S. D.; Romana, A.; Rosati, M.; Rosen, C. A.; Rosendahl, S. S. E.; Rosnet, P.; Rowan, Z.; Rubin, J. G.; Rukoyatkin, P.; Ružička, P.; Rykov, V. L.; Sahlmueller, B.; Saito, N.; Sakaguchi, T.; Sakai, S.; Sakashita, K.; Sakata, H.; Sako, H.; Samsonov, V.; Sano, S.; Sarsour, M.; Sato, S.; Sato, T.; Sawada, S.; Schaefer, B.; Schmoll, B. K.; Sedgwick, K.; Seele, J.; Seidl, R.; Semenov, V.; Sen, A.; Seto, R.; Sett, P.; Sexton, A.; Sharma, D.; Shein, I.; Shevel, A.; Shibata, T.-A.; Shigaki, K.; Shimomura, M.; Shoji, K.; Shukla, P.; Sickles, A.; Silva, C. L.; Silvermyr, D.; Silvestre, C.; Sim, K. S.; Singh, B. K.; Singh, C. P.; Singh, V.; Skutnik, S.; Slunečka, M.; Soldatov, A.; Soltz, R. A.; Sondheim, W. E.; Sorensen, S. P.; Sourikova, I. V.; Staley, F.; Stankus, P. W.; Stenlund, E.; Stepanov, M.; Ster, A.; Stoll, S. P.; Sugitate, T.; Suire, C.; Sukhanov, A.; Sumita, T.; Sun, J.; Sziklai, J.; Tabaru, T.; Takagi, S.; Takagui, E. M.; Takahara, A.; Taketani, A.; Tanabe, R.; Tanaka, Y.; Taneja, S.; Tanida, K.; Tannenbaum, M. J.; Tarafdar, S.; Taranenko, A.; Tarján, P.; Themann, H.; Thomas, D.; Thomas, T. L.; Timilsina, A.; Todoroki, T.; Togawa, M.; Toia, A.; Tojo, J.; Tomášek, L.; Tomášek, M.; Torii, H.; Towell, M.; Towell, R.; Towell, R. S.; Tram, V.-N.; Tserruya, I.; Tsuchimoto, Y.; Vale, C.; Valle, H.; van Hecke, H. W.; Vargyas, M.; Vazquez-Zambrano, E.; Veicht, A.; Velkovska, J.; Vértesi, R.; Vinogradov, A. A.; Virius, M.; Vrba, V.; Vznuzdaev, E.; Wagner, M.; Walker, D.; Wang, X. R.; Watanabe, D.; Watanabe, K.; Watanabe, Y.; Watanabe, Y. S.; Wei, F.; Wei, R.; Wessels, J.; Whitaker, S.; White, S. N.; Winter, D.; Wolin, S.; Woody, C. L.; Wright, R. M.; Wysocki, M.; Xia, B.; Xie, W.; Xue, L.; Yalcin, S.; Yamaguchi, Y. L.; Yamaura, K.; Yang, R.; Yanovich, A.; Yasin, Z.; Ying, J.; Yokkaichi, S.; Yoon, I.; You, Z.; Young, G. R.; Younus, I.; Yushmanov, I. E.; Zajc, W. A.; Zaudtke, O.; Zelenski, A.; Zhang, C.; Zhou, S.; Zimányi, J.; Zolin, L.; Phenix Collaboration

    2014-11-01

    The PHENIX experiment at the Relativistic Heavy Ion Collider has performed a systematic study of KS0 and K*0 meson production at midrapidity in p +p ,d +Au , and Cu +Cu collisions at √{s NN}=200 GeV. The KS0 and K*0 mesons are reconstructed via their KS0→π0(→γ γ ) π0(→γ γ ) and K*0→K±π∓ decay modes, respectively. The measured transverse-momentum spectra are used to determine the nuclear modification factor of KS0 and K*0 mesons in d +Au and Cu +Cu collisions at different centralities. In the d +Au collisions, the nuclear modification factor of KS0 and K*0 mesons is almost constant as a function of transverse momentum and is consistent with unity, showing that cold-nuclear-matter effects do not play a significant role in the measured kinematic range. In Cu +Cu collisions, within the uncertainties no nuclear modification is registered in peripheral collisions. In central collisions, both mesons show suppression relative to the expectations from the p +p yield scaled by the number of binary nucleon-nucleon collisions in the Cu +Cu system. In the pT range 2 - 5 GeV /c , the strange mesons (KS0,K*0) similarly to the ϕ meson with hidden strangeness, show an intermediate suppression between the more suppressed light quark mesons (π0) and the nonsuppressed baryons (p ,p ¯). At higher transverse momentum, pT>5 GeV /c , production of all particles is similarly suppressed by a factor of ≈2 .

  11. [The use of stabilo-training with feedback in the rehabilitation of patients with posttraumatic Korsakov's syndrome].

    PubMed

    Zhavoronkova, L A; Maksakova, O A; Zharikova, A V; Flerov, I S; Shchekut'ev, G A; Naĭdin, V L

    2010-01-01

    The complex research, including clinical scales (FIM, Mayo-Portland) and data on stabilography and electroencephalography (EEG) studies, was conducted in 10 patients with posttraumatic Korsakov's syndrome (KS) before and after the rehabilitation course using stabilo-training (ST) with feedback (7-12 sessions). A control group consisted of 18 healthy people. In patients with KS, more severe cognitive (memory) disorders were noted before ST that was correlated with the maximal reduction of coherence in all frequency bands in frontal and parietal-occipital areas as well as in the long diagonal pairs between the left frontal and the right parietal-occipital areas which was most distinct for the alpha-band. A trend to the normalization of stabilography parameters and step-by step increasing of EEG coherence parameters, especially the alpha-band, was found after the rehabilitation ST course, which was accompanied with the KS regress. It increased initially in parietal-occipital-central areas of the right hemisphere with the following increase in central-frontal areas and then in frontal areas, mostly in the left hemisphere, that was in compliance with the tendency to the normalization of spatial-temporary EEG organization.

  12. Unusual molecular findings in Kindler syndrome.

    PubMed

    Arita, K; Wessagowit, V; Inamadar, A C; Palit, A; Fassihi, H; Lai-Cheong, J E; Pourreyron, C; South, A P; McGrath, J A

    2007-12-01

    Kindler syndrome (KS) is a rare inherited skin disorder with blistering and poikiloderma as its main clinical features. It is caused by loss-of-function mutations in the C20orf42 (KIND1) gene which encodes kindlin-1, an actin cytoskeleton-focal contact-associated protein which is predominantly expressed in keratinocytes. We investigated the molecular basis of KS in a 16-year-old Indian boy who had additional clinical findings, including scleroatrophic changes of the hands and feet, pseudoainhum and early onset of squamous cell carcinoma on his foot. Immunostaining for kindlin-1 in the patient's skin was completely absent and sequencing of C20orf42 (KIND1) genomic DNA showed a homozygous splice-site mutation at the -6 position, IVS9-6T-->A. Amplification and sequencing of cDNA from the skin revealed aberrant splicing with either deletion of exon 10 or deletion of exons 9, 10 and 11, both of which involve loss of the pleckstrin homology domain of kindlin-1 that is thought to play a role in cytoskeletal attachment and integrin-mediated cell signalling. Pathogenic splice-site mutations at the -6 position are unusual and have rarely been reported for any genetic disorder. Collectively, these findings extend the spectrum of clinical and molecular abnormalities in this rare genodermatosis.

  13. 76 FR 53361 - Proposed Revocation and Amendment of Class E Airspace; Olathe, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-26

    ...-0748; Airspace Docket No. 11-ACE-13] Proposed Revocation and Amendment of Class E Airspace; Olathe, KS... docket number FAA-2011-0748/Airspace Docket No. 11- ACE-13, at the beginning of your comments. You may... No. FAA-2011-0748/ Airspace Docket No. 11-ACE-13.'' The postcard will be date/time stamped and...

  14. Infrared Observations of the Neutron Star X-ray Transient KS 1731-260

    NASA Astrophysics Data System (ADS)

    Orosz, Jerome A.; Bailyn, Charles D.; Whitman, Katie

    2001-09-01

    We have obtained J-band images of the field of the neutron star X-ray transient KS 1731-260 on July 13, 2001 using the YALO 1m telescope at Cerro Tololo Interamerican Observatory and the ANDICAM optical/IR camera. We compared our image with the J-band image obtained June 1, 1996 with the Canada-France-Hawaii Telescope (Barret, Motch, & Predehl, 1998, A&A, 329, 965).

  15. Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements.

    PubMed

    Koenigkam-Santos, M; Santos, A C; Borduqui, T; Versiani, B R; Hallak, J E C; Crippa, J A S; Castro, M

    2008-10-01

    There are 2 main hypotheses concerning the cause of mirror movements (MM) in Kallmann syndrome (KS): abnormal development of the primary motor system, involving the ipsilateral corticospinal tract; and lack of contralateral motor cortex inhibitory mechanisms, mainly through the corpus callosum. The purpose of our study was to determine white and gray matter volume changes in a KS population by using optimized voxel-based morphometry (VBM) and to investigate the relationship between the abnormalities and the presence of MM, addressing the 2 mentioned hypotheses. T1-weighted volumetric images from 21 patients with KS and 16 matched control subjects were analyzed with optimized VBM. Images were segmented and spatially normalized, and these deformation parameters were then applied to the original images before the second segmentation. Patients were divided into groups with and without MM, and a t test statistic was then applied on a voxel-by-voxel basis between the groups and controls to evaluate significant differences. When considering our hypothesis a priori, we found that 2 areas of increased gray matter volume, in the left primary motor and sensorimotor cortex, were demonstrated only in patients with MM, when compared with healthy controls. Regarding white matter alterations, no areas of altered volume involving the corpus callosum or the projection of the corticospinal tract were demonstrated. The VBM study did not show significant white matter changes in patients with KS but showed gray matter alterations in keeping with a hypertrophic response to a deficient pyramidal decussation in patients with MM. In addition, gray matter alterations were observed in patients without MM, which can represent more complex mechanisms determining the presence or absence of this symptom.

  16. 75 FR 65404 - Security Savings Bank, FSB; Olathe, KS; Notice of Appointment of Receiver

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-22

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision Security Savings Bank, FSB; Olathe, KS... section 5(d)(2) of the Home Owners' Loan Act, the Office of Thrift Supervision (OTS) has duly appointed the Federal Deposit Insurance Corporation as sole Receiver for Security Savings Bank, FSB, Olathe...

  17. Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI.

    PubMed

    van Rijn, Sophie; Swaab, Hanna; Baas, Daan; de Haan, Edward; Kahn, René S; Aleman, André

    2012-08-01

    Klinefelter syndrome (KS) is a chromosomal condition (47, XXY) that may help us to unravel gene-brain behavior pathways to psychopathology. The phenotype includes social cognitive impairments and increased risk for autism traits. We used functional MRI to study neural mechanisms underlying social information processing. Eighteen nonclinical controls and thirteen men with XXY were scanned during judgments of faces with regard to trustworthiness and age. While judging faces as untrustworthy in comparison to trustworthy, men with XXY displayed less activation than controls in (i) the amygdala, which plays a key role in screening information for socio-emotional significance, (ii) the insula, which plays a role in subjective emotional experience, as well as (iii) the fusiform gyrus and (iv) the superior temporal sulcus, which are both involved in the perceptual processing of faces and which were also less involved during age judgments in men with XXY. This is the first study showing that KS can be associated with reduced involvement of the neural network subserving social cognition. Studying KS may increase our understanding of the genetic and hormonal basis of neural dysfunctions contributing to abnormalities in social cognition and behavior, which are considered core abnormalities in psychiatric disorders such as autism and schizophrenia.

  18. Klinefelter Syndrome (KS): Other FAQs

    MedlinePlus

    ... before entrance to middle/high school Difficulty with math at all ages Testing to identify problem areas and remediation for math disabilities Difficulty with complex language processing, specifically with ...

  19. Klinefelter Syndrome (KS): Condition Information

    MedlinePlus

    ... Z Topics Men's Reproductive Health Infertility and Fertility Learning Disabilities NICHD News and Features Getting to Know the New NICHD Director March is Trisomy Awareness Month: Time to Get "DS Connected" Picture This: NICHD Support for Neuroscience Research All related news BACK TO TOP Content ...

  20. SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

    PubMed Central

    Parkash, Jyoti; Espy, Cécile; Fouveaut, Corinne; Leroy, Chrystel; Baron, Stéphanie; Campagne, Céline; Vanacker, Charlotte; Collier, Francis; Cruaud, Corinne; Meyer, Vincent; García-Piñero, Alfons; Dewailly, Didier; Cortet-Rudelli, Christine; Gersak, Ksenija; Metz, Chantal; Chabrier, Gérard; Pugeat, Michel; Young, Jacques; Hardelin, Jean-Pierre; Prevot, Vincent; Dodé, Catherine

    2012-01-01

    Kallmann syndrome (KS) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. The genetics of KS involves various modes of transmission, including oligogenic inheritance. Here, we report that Nrp1 sema/sema mutant mice that lack a functional semaphorin-binding domain in neuropilin-1, an obligatory coreceptor of semaphorin-3A, have a KS–like phenotype. Pathohistological analysis of these mice indeed showed abnormal development of the peripheral olfactory system and defective embryonic migration of the neuroendocrine GnRH cells to the basal forebrain, which results in increased mortality of newborn mice and reduced fertility in adults. We thus screened 386 KS patients for the presence of mutations in SEMA3A (by Sanger sequencing of all 17 coding exons and flanking splice sites) and identified nonsynonymous mutations in 24 patients, specifically, a frameshifting small deletion (D538fsX31) and seven different missense mutations (R66W, N153S, I400V, V435I, T688A, R730Q, R733H). All the mutations were found in heterozygous state. Seven mutations resulted in impaired secretion of semaphorin-3A by transfected COS-7 cells (D538fsX31, R66W, V435I) or reduced signaling activity of the secreted protein in the GN11 cell line derived from embryonic GnRH cells (N153S, I400V, T688A, R733H), which strongly suggests that these mutations have a pathogenic effect. Notably, mutations in other KS genes had already been identified, in heterozygous state, in five of these patients. Our findings indicate that semaphorin-3A signaling insufficiency contributes to the pathogenesis of KS and further substantiate the oligogenic pattern of inheritance in this developmental disorder. PMID:22927827

  1. The LSS 4300: A hot counterpart of Upsilon Sgr and KS Per?

    NASA Technical Reports Server (NTRS)

    Drilling, J. S.; Schoenberner, D.

    1983-01-01

    A number of observations indicate that the star LSS 4300 is a high temperature analog of the hydrogen-deficient binaries upsilon Sgr and KS Per. A preliminary model-atmosphere analysis based on high-dispersion spectra obtained at Kitt Peak and Cerro Tololo yields T(eff) = 14,400 K, log(g) = 1.4, n(H)/n(He) = 0.003, and n(N)/n(C) = 20 (the corresponding values for upsilon Sgr are T(eff) = 10,000 K, log(g) = 1, n(H)/n(He) = 0.0005, and n(N)/n(C) = 20). The optical emission-line spectrum of LSS 4300 is nearly identical to that of upsilon Sgr, including strong, broad H alpha, FeII and Ca II emission. The ultraviolet spectrum of LSS 4300 was observed with IUE, and can be attributed almost entirely to the visible star. The JHKL photometry of LSS 4300 obtained at Cerro Tololo reveals an infrared excess nearly identical to that of upsilon Sgr. It is suggested that LSS 4300, like upsilon Sgr and KS Per, is a close binary system consisting of a helium supergiant of about one solar mass, and a secondary which is overluminous for its mass due to the accretion of matter from the primary, which is undergoing its second mass exchange.

  2. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

    PubMed

    Has, Cristina; Castiglia, Daniele; del Rio, Marcela; Diez, Marta Garcia; Piccinni, Eugenia; Kiritsi, Dimitra; Kohlhase, Jürgen; Itin, Peter; Martin, Ludovic; Fischer, Judith; Zambruno, Giovanna; Bruckner-Tuderman, Leena

    2011-11-01

    Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. Herein we review the clinical and genetic data of 62 patients, and delineate the natural history of the disorder, for example, age at onset of symptoms, or risk of malignancy. Although most mutations are predicted to lead to premature termination of translation, and to loss of kindlin-1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications. Nevertheless, the clinical variability is not fully explained by genotype-phenotype correlations. Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications. © 2011 Wiley Periodicals, Inc.

  3. A patient with mushroom allergy; a new etiological agent of Kounis syndrome.

    PubMed

    Tepetam, Fatma Merve; Dağdeviren, Bahadır; Bulut, İsmet; Karabay, Can Yücel; Barış, Safa; Aydıner Karakoç, Elif

    2016-06-01

    Kounis syndrome (KS) is a rarely diagnosed condition which should always be kept in mind when an acute myocardial infarction (AMI) happens in the context of anaphylactic reactions. We report a case of a 31-year old female; 2 hours after the ingestion of the mushroom (Pleurotus ostreatus); she experienced nausea, stomachache, vomiting, dyspnea and chest pain. Electrocardiogram (ECG) showed an ST segment elevation in D1, AVL, precordial leads V1-V4. The blood analysis revealed high levels of CK-MB fraction and troponin T values. The diagnosis of Kounis syndrome was made in the catheterization laboratory via the complete resolution of angina, along with electrocardiographic changes that took place after intracoronary nitrate therapy and skin prick to prick test positivism with the mushroom. To the best of our knowledge, this is the first case of a type I variant of Kounis syndrome due to Pleurotus ostreatus allergy reported so far.

  4. Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree.

    PubMed

    El Hachem, May; Diociaiuti, Andrea; Proto, Vittoria; Fortugno, Paola; Zambruno, Giovanna; Castiglia, Daniele; Naim, Majdy

    2015-01-01

    Kindler syndrome (KS) is a rare autosomal recessive disease of skin fragility, photosensitivity and progressive poikiloderma. Mucous membranes may also be involved. KS is caused by mutations in the FERMT1 gene encoding kindlin-1. We report the clinical and molecular features of the largest kindred with KS to date, comprising 18 affected family members (age range: 12-63 years) from the Gaza Strip. All the affected family members were clinically examined. In addition a skin biopsy for immunofluorescence testing was obtained from the index case. Molecular analysis of the FERMT1 gene was performed on genomic DNA extracted from peripheral blood of 5 patients. All patients presented skin and eye photosensitivity, cutaneous atrophy, dyschromia and poikiloderma, oral cavity involvement, dysphagia and constipation with anal fissures. In addition, nail dystrophy and digit webbing were observed in most of them. Ocular manifestations detected in all patients comprised ectropion and keratoconjunctivitis, with early development of symblepharon in 17 out of 18 cases and blindness in one. Of note, 17 out of 18 affected family members also suffered from urethral strictures since childhood. Diagnosis was supported by immunofluorescence findings and definitely confirmed by FERMT1 sequencing which identified the homozygous frame-shift mutation c.137_140delTAGT. The high rate of mucosal involvement, its early onset and progressive course are noticeable features of our kindred. Also noteworthy is the lack of muco-cutaneous malignancies, despite the sunny habitat.

  5. THE GRAY NEEDLE: LARGE GRAINS IN THE HD 15115 DEBRIS DISK FROM LBT /PISCES/Ks AND LBTI /LMIRcam/L' ADAPTIVE OPTICS IMAGING

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Rodigas, Timothy J.; Hinz, Philip M.; Vaitheeswaran, Vidhya

    We present diffraction-limited Ks band and L' adaptive optics images of the edge-on debris disk around the nearby F2 star HD 15115, obtained with a single 8.4 m primary mirror at the Large Binocular Telescope. At the Ks band, the disk is detected at signal-to-noise per resolution element (SNRE) {approx} 3-8 from {approx}1 to 2.''5 (45-113 AU) on the western side and from {approx}1.''2 to 2.''1 (63-90 AU) on the east. At L' the disk is detected at SNRE {approx} 2.5 from {approx}1 to 1.''45 (45-90 AU) on both sides, implying more symmetric disk structure at 3.8 {mu}m. At bothmore » wavelengths the disk has a bow-like shape and is offset from the star to the north by a few AU. A surface brightness asymmetry exists between the two sides of the disk at the Ks band, but not at L'. The surface brightness at the Ks band declines inside 1'' ({approx}45 AU), which may be indicative of a gap in the disk near 1''. The Ks - L' disk color, after removal of the stellar color, is mostly gray for both sides of the disk. This suggests that scattered light is coming from large dust grains, with 3-10 {mu}m sized grains on the east side and 1-10 {mu}m dust grains on the west. This may suggest that the west side is composed of smaller dust grains than the east side, which would support the interpretation that the disk is being dynamically affected by interactions with the local interstellar medium.« less

  6. NuSTAR Discovery of a Cyclotron Line in KS 1947+300

    NASA Technical Reports Server (NTRS)

    Furst, Felix; Pottschmidt, Katja; Wilms, Jorn; Kennea, Jamie; Bachetti, Matteo; Bellm, Eric; Boggs, Steven E.; Chakrabarty, Deepto; Christensen, Finn E.; Craig, William W.; hide

    2014-01-01

    We present a spectral analysis of three simultaneous Nuclear Spectroscopy Telescope Array and Swift/XRT observations of the transient Be-neutron star binary KS 1947+300 taken during its outburst in 2013/2014. These broadband observations were supported by Swift/XRTmonitoring snapshots every three days, which we use to study the evolution of the spectrum over the outburst.We find strong changes of the power-law photon index, which shows a weak trend of softening with increasing X-ray flux. The neutron star shows very strong pulsations with a period of P ˜ [almost equal to] 18.8 s. The 0.8-79 keV broadband spectrum can be described by a power law with an exponential cutoff and a blackbody component at low energies. During the second observation we detect a cyclotron resonant scattering feature at 12.5 keV, which is absent in the phase-averaged spectra of observations 1 and 3. Pulse phase-resolved spectroscopy reveals that the strength of the feature changes strongly with pulse phase and is most prominent during the broad minimum of the pulse profile. At the same phases the line also becomes visible in the first and third observation at the same energy. This discovery implies that KS 1947+300 has a magnetic field strength of B ˜ [almost equal to] 1.1 × 1012(1 + z) G, which is at the lower end of known cyclotron line sources.

  7. NuSTAR DISCOVERY OF A CYCLOTRON LINE IN KS 1947+300

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Fürst, Felix; Bellm, Eric; Harrison, Fiona

    2014-04-01

    We present a spectral analysis of three simultaneous Nuclear Spectroscopy Telescope Array and Swift/XRT observations of the transient Be-neutron star binary KS 1947+300 taken during its outburst in 2013/2014. These broadband observations were supported by Swift/XRT monitoring snapshots every three days, which we use to study the evolution of the spectrum over the outburst. We find strong changes of the power-law photon index, which shows a weak trend of softening with increasing X-ray flux. The neutron star shows very strong pulsations with a period of P ≈ 18.8 s. The 0.8-79 keV broadband spectrum can be described by a power law with anmore » exponential cutoff and a blackbody component at low energies. During the second observation we detect a cyclotron resonant scattering feature at 12.5 keV, which is absent in the phase-averaged spectra of observations 1 and 3. Pulse phase-resolved spectroscopy reveals that the strength of the feature changes strongly with pulse phase and is most prominent during the broad minimum of the pulse profile. At the same phases the line also becomes visible in the first and third observation at the same energy. This discovery implies that KS 1947+300 has a magnetic field strength of B ≈ 1.1 × 10{sup 12}(1 + z) G, which is at the lower end of known cyclotron line sources.« less

  8. Diagnosis of Misalignment in Overhung Rotor using the K-S Statistic and A2 Test

    NASA Astrophysics Data System (ADS)

    Garikapati, Diwakar; Pacharu, RaviKumar; Munukurthi, Rama Satya Satyanarayana

    2018-02-01

    Vibration measurement at the bearings of rotating machinery has become a useful technique for diagnosing incipient fault conditions. In particular, vibration measurement can be used to detect unbalance in rotor, bearing failure, gear problems or misalignment between a motor shaft and coupled shaft. This is a particular problem encountered in turbines, ID fans and FD fans used for power generation. For successful fault diagnosis, it is important to adopt motor current signature analysis (MCSA) techniques capable of identifying the faults. It is also useful to develop techniques for inferring information such as the severity of fault. It is proposed that modeling the cumulative distribution function of motor current signals with respect to appropriate theoretical distributions, and quantifying the goodness of fit with the Kolmogorov-Smirnov (KS) statistic and A2 test offers a suitable signal feature for diagnosis. This paper demonstrates the successful comparison of the K-S feature and A2 test for discriminating the misalignment fault from normal function.

  9. K-S Test for Goodness of Fit and Waiting Times for Fatal Plane Accidents

    ERIC Educational Resources Information Center

    Gwanyama, Philip Wagala

    2005-01-01

    The Kolmogorov?Smirnov (K-S) test for goodness of fit was developed by Kolmogorov in 1933 [1] and Smirnov in 1939 [2]. Its procedures are suitable for testing the goodness of fit of a data set for most probability distributions regardless of sample size [3-5]. These procedures, modified for the exponential distribution by Lilliefors [5] and…

  10. 77 FR 33388 - Designation for the Topeka, KS; Cedar Rapids, IA; Minot, ND; and Cincinnati, OH Areas; Correction

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-06

    ..., KS; Cedar Rapids, IA; Minot, ND; and Cincinnati, OH Areas; Correction AGENCY: Grain Inspection..., IA; Minot, ND; and Cincinnati, OH Areas. The document contained an incorrect abbreviation. FOR...

  11. GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.

    PubMed

    Maione, Luigi; Dwyer, Andrew A; Francou, Bruno; Guiochon-Mantel, Anne; Binart, Nadine; Bouligand, Jérôme; Young, Jacques

    2018-03-01

    Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing and is increasingly being used in medical practice. Thus, it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling. © 2018 European Society of Endocrinology.

  12. Search for CP Violation and Measurement of the Branching Fraction in the Decay D^{0}→K_{S}^{0}K_{S}^{0}.

    PubMed

    Dash, N; Bahinipati, S; Bhardwaj, V; Trabelsi, K; Adachi, I; Aihara, H; Al Said, S; Asner, D M; Aulchenko, V; Aushev, T; Ayad, R; Babu, V; Badhrees, I; Bakich, A M; Bansal, V; Barberio, E; Bhuyan, B; Biswal, J; Bobrov, A; Bondar, A; Bonvicini, G; Bozek, A; Bračko, M; Breibeck, F; Browder, T E; Červenkov, D; Chang, M-C; Chekelian, V; Chen, A; Cheon, B G; Chilikin, K; Cho, K; Choi, Y; Cinabro, D; Di Carlo, S; Doležal, Z; Drásal, Z; Dutta, D; Eidelman, S; Epifanov, D; Farhat, H; Fast, J E; Ferber, T; Fulsom, B G; Gaur, V; Gabyshev, N; Garmash, A; Gillard, R; Goldenzweig, P; Haba, J; Hara, T; Hayasaka, K; Hayashii, H; Hedges, M T; Hou, W-S; Iijima, T; Inami, K; Ishikawa, A; Itoh, R; Iwasaki, Y; Jacobs, W W; Jaegle, I; Jeon, H B; Jin, Y; Joffe, D; Joo, K K; Julius, T; Kahn, J; Kaliyar, A B; Karyan, G; Katrenko, P; Kawasaki, T; Kiesling, C; Kim, D Y; Kim, H J; Kim, J B; Kim, K T; Kim, M J; Kim, S H; Kim, Y J; Kinoshita, K; Kodyš, P; Korpar, S; Kotchetkov, D; Križan, P; Krokovny, P; Kuhr, T; Kulasiri, R; Kumar, R; Kumita, T; Kuzmin, A; Kwon, Y-J; Lange, J S; Lee, I S; Li, C H; Li, L; Li, Y; Li Gioi, L; Libby, J; Liventsev, D; Lubej, M; Luo, T; Masuda, M; Matvienko, D; Merola, M; Miyabayashi, K; Miyata, H; Mizuk, R; Mohanty, G B; Mohanty, S; Moon, H K; Mori, T; Mussa, R; Nakano, E; Nakao, M; Nanut, T; Nath, K J; Natkaniec, Z; Nayak, M; Niiyama, M; Nisar, N K; Nishida, S; Ogawa, S; Okuno, S; Ono, H; Pakhlov, P; Pakhlova, G; Pal, B; Pardi, S; Park, C-S; Park, H; Paul, S; Pedlar, T K; Pesántez, L; Pestotnik, R; Piilonen, L E; Prasanth, K; Ritter, M; Rostomyan, A; Sahoo, H; Sakai, Y; Sandilya, S; Santelj, L; Sanuki, T; Sato, Y; Savinov, V; Schneider, O; Schnell, G; Schwanda, C; Schwartz, A J; Seino, Y; Senyo, K; Sevior, M E; Shebalin, V; Shen, C P; Shibata, T-A; Shiu, J-G; Shwartz, B; Simon, F; Sokolov, A; Solovieva, E; Starič, M; Strube, J F; Stypula, J; Sumisawa, K; Sumiyoshi, T; Takizawa, M; Tamponi, U; Tanida, K; Tenchini, F; Uchida, M; Uglov, T; Unno, Y; Uno, S; Urquijo, P; Usov, Y; Van Hulse, C; Varner, G; Vorobyev, V; Vossen, A; Waheed, E; Wang, C H; Wang, M-Z; Wang, P; Watanabe, M; Watanabe, Y; Widmann, E; Williams, K M; Won, E; Yamashita, Y; Ye, H; Yelton, J; Yook, Y; Yuan, C Z; Yusa, Y; Zhang, Z P; Zhilich, V; Zhukova, V; Zhulanov, V; Zupanc, A

    2017-10-27

    We report a study of the decay D^{0}→K_{S}^{0}K_{S}^{0} using 921  fb^{-1} of data collected at or near the ϒ(4S) and ϒ(5S) resonances with the Belle detector at the KEKB asymmetric energy e^{+}e^{-} collider. The measured time-integrated CP asymmetry is A_{CP}(D^{0}→K_{S}^{0}K_{S}^{0})=(-0.02±1.53±0.02±0.17)%, and the branching fraction is B(D^{0}→K_{S}^{0}K_{S}^{0})=(1.321±0.023±0.036±0.044)×10^{-4}, where the first uncertainty is statistical, the second is systematic, and the third is due to the normalization mode (D^{0}→K_{S}^{0}π^{0}). These results are significantly more precise than previous measurements available for this mode. The A_{CP} measurement is consistent with the standard model expectation.

  13. Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

    PubMed Central

    Raivio, Taneli; Avbelj, Magdalena; McCabe, Mark J.; Romero, Christopher J.; Dwyer, Andrew A.; Tommiska, Johanna; Sykiotis, Gerasimos P.; Gregory, Louise C.; Diaczok, Daniel; Tziaferi, Vaitsa; Elting, Mariet W.; Padidela, Raja; Plummer, Lacey; Martin, Cecilia; Feng, Bihua; Zhang, Chengkang; Zhou, Qun-Yong; Chen, Huaibin; Mohammadi, Moosa; Quinton, Richard; Sidis, Yisrael; Radovick, Sally; Dattani, Mehul T.

    2012-01-01

    Context: Kallmann syndrome (KS), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) all result from development defects of the anterior midline in the human forebrain. Objective: The objective of the study was to investigate whether KS, CPHD, and SOD have shared genetic origins. Design and Participants: A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). Consequences of identified FGFR1, FGF8, and PROKR2 mutations were investigated in vitro. Results: Three patients with SOD had heterozygous mutations in FGFR1; these were either shown to alter receptor signaling (p.S450F, p.P483S) or predicted to affect splicing (c.336C>T, p.T112T). One patient had a synonymous change in FGF8 (c.216G>A, p.T72T) that was shown to affect splicing and ligand signaling activity. Four patients with CPHD/SOD were found to harbor heterozygous rare loss-of-function variants in PROKR2 (p.R85G, p.R85H, p.R268C). Conclusions: Mutations in FGFR1/FGF8/PROKR2 contributed to 7.8% of our patients with CPHD/SOD. These data suggest a significant genetic overlap between conditions affecting the development of anterior midline in the human forebrain. PMID:22319038

  14. Do Amnesic Patients with Korsakoff's Syndrome Use Feedback when Making Decisions under Risky Conditions? An Experimental Investigation with the Game of Dice Task with and without Feedback

    ERIC Educational Resources Information Center

    Brand, Matthias; Pawlikowski, Mirko; Labudda, Kirsten; Laier, Christian; von Rothkirch, Nadine; Markowitsch, Hans J.

    2009-01-01

    We investigated the role of feedback processing in decision making under risk conditions in 50 patients with amnesia in the course of alcoholic Korsakoff's syndrome (KS). Half of the patients were administered the Game of Dice Task (GDT) and the remaining 25 patients were examined with a modified version of the GDT in which no feedback was…

  15. Extracting the quark mixing phase γ from B±→K±π+π-, B0→Ksπ+π-, and B¯0→Ksπ+π-

    NASA Astrophysics Data System (ADS)

    Bediaga, Ignacio; Guerrer, Gabriel; de Miranda, Jussara M.

    2007-10-01

    We discuss some aspects of the search for CP asymmetry in the three body B decays, revealed through the interference among neighbor resonances in the Dalitz plot. We propose a competitive method to extract the CKM γ angle combining Dalitz plot amplitude analysis of B±→K±π+π- and untagged B0, B¯0→Ksπ+π-. The method also obtains the ratio and phase difference between the tree and penguin contributions from B0 and B¯0→K*±π∓ decays and the CP asymmetry between B0 and B¯0. From Monte Carlo studies of 100 K events for the neutral mesons, we show the possibility of measuring γ.

  16. Streptococcal toxic shock syndrome caused by the dissemination of an invasive emm3/ST15 strain of Streptococcus pyogenes.

    PubMed

    Sekizuka, Tsuyoshi; Nai, Emina; Yoshida, Tomohiro; Endo, Shota; Hamajima, Emi; Akiyama, Satoka; Ikuta, Yoji; Obana, Natsuko; Kawaguchi, Takahiro; Hayashi, Kenta; Noda, Masahiro; Sumita, Tomoko; Kokaji, Masayuki; Katori, Tatsuo; Hashino, Masanori; Oba, Kunihiro; Kuroda, Makoto

    2017-12-18

    Streptococcus pyogenes (group A Streptococcus [GAS]) is a major human pathogen that causes a wide spectrum of clinical manifestations. Although invasive GAS (iGAS) infections are relatively uncommon, emm3/ST15 GAS is a highly virulent, invasive, and pathogenic strain. Global molecular epidemiology analysis has suggested that the frequency of emm3 GAS has been recently increasing. A 14-year-old patient was diagnosed with streptococcal toxic shock syndrome and severe pneumonia, impaired renal function, and rhabdomyolysis. GAS was isolated from a culture of endotracheal aspirates and designated as KS030. Comparative genome analysis suggested that KS030 is classified as emm3 (emm-type) and ST15 (multilocus sequencing typing [MLST]), which is similar to iGAS isolates identified in the UK (2013) and Switzerland (2015). We conclude that the global dissemination of emm3/ST15 GAS strain has the potential to cause invasive disease.

  17. Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

    PubMed

    Cariboni, Anna; André, Valentina; Chauvet, Sophie; Cassatella, Daniele; Davidson, Kathryn; Caramello, Alessia; Fantin, Alessandro; Bouloux, Pierre; Mann, Fanny; Ruhrberg, Christiana

    2015-06-01

    Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible gene candidates have identified mutations associated with inherited GnRH deficiency, but the small number of affected families and limited success in validating candidates have impeded genetic diagnoses for most patients. Using a combination of exome sequencing and computational modeling, we have identified a shared point mutation in semaphorin 3E (SEMA3E) in 2 brothers with Kallmann syndrome (KS), which causes inherited GnRH deficiency. Recombinant wild-type SEMA3E protected maturing GnRH neurons from cell death by triggering a plexin D1-dependent (PLXND1-dependent) activation of PI3K-mediated survival signaling. In contrast, recombinant SEMA3E carrying the KS-associated mutation did not protect GnRH neurons from death. In murine models, lack of either SEMA3E or PLXND1 increased apoptosis of GnRH neurons in the developing brain, reducing innervation of the adult median eminence by GnRH-positive neurites. GnRH neuron deficiency in male mice was accompanied by impaired testes growth, a characteristic feature of KS. Together, these results identify SEMA3E as an essential gene for GnRH neuron development, uncover a neurotrophic function for SEMA3E in the developing brain, and elucidate SEMA3E/PLXND1/PI3K signaling as a mechanism that prevents GnRH neuron deficiency.

  18. The likely optical counterpart of X-ray transient KS 1731-260

    NASA Astrophysics Data System (ADS)

    Wijnands, Rudy; Groot, Paul J.; Miller, Jon J.; Markwardt, Craig; Lewin, Walter H. G.; van der Klis, Michiel

    2001-07-01

    During our 27 March 2001 Chandra observation of the neutron star X-ray transient KS 1731-260, two X-ray sources were detected (Wijnands et al. 2001, ApJL submitted, astro-ph/0107380). One of those sources is very likely a star in the USNO A2.0 optical catalog (Monet et al. 1998, USNO-SA2.0, U.S. Naval Observatory, Washington DC) and in the Two Micron All Sky Survey (2MASS) point source catalog with a position (from 2MASS) of R.A = 17h34m12.70s, Dec. -26d05m48.4s (+/- 0.2 arcseconds).

  19. Performing below the Targeted Level: An Investigation into KS3 Pupils' Attitudes towards Mathematics

    ERIC Educational Resources Information Center

    Mirza, Anusha; Hussain, Nasreen

    2018-01-01

    This study sets out to investigate the attitude KS3 pupils have towards mathematics and the factors that influence this attitude. A case study approach was used as the pupils were a unit of the school under study and a survey method was chosen to provide scope to the study. Purposeful sampling was employed for the selection of 200 pupils from…

  20. Construction and characterization of the hetero-oligomer of the group II chaperonin from the hyperthermophilic archaeon, Thermococcus sp. strain KS-1.

    PubMed

    Sahlan, Muhamad; Kanzaki, Taro; Yohda, Masafumi

    2009-05-01

    The hyperthermophilic archaeon Thermococcus sp. strain KS-1 (T. KS-1) expresses two different chaperonin subunits, alpha and beta, for the folding of its proteins. The composition of the subunits in the hexadecameric double ring changes with temperature. The content of the beta subunit significantly increases according to the increase in temperature. The homo-oligomer of the beta subunit, Cpn beta, is more thermostable than that of the alpha subunit, Cpn alpha. Since Cpn alpha and Cpn beta also have different protein folding activities and interactions with prefoldin, the hetero-oligomer is thought to exhibit different characteristics according to the content of subunits. The hetero-oligomer of the T. KS-1 chaperonin has not been studied, however, because the alpha and beta subunits form hetero-oligomers of varying compositions when they are expressed simultaneously. In this study, we characterized the T. KS-1 chaperonin hetero-oligomer, Cpn alphabeta, containing both alpha and beta in the alternate order, which was constructed by the expression of alpha and beta subunits in a coordinated fashion and protease digestion. Cpn alphabeta protected citrate synthase from thermal aggregation, promoted the folding of acid-denatured GFP in an ATP-dependent manner, and exhibited an ATP-dependent conformational change. The yield of refolded GFP generated by Cpn alphabeta was almost equivalent to that generated by Cpn beta but lower than that generated by Cpn alpha. In contrast, Cpn alphabeta exhibited almost the same level of thermal stability as Cpn alpha, which was lower than that of Cpn beta. The affinity of Cpn alphabeta to prefoldin was found to be between those of Cpn alpha and Cpn beta, as expected.

  1. Low fertility awareness in United States reproductive-aged women and medical trainees: creation and validation of the Fertility & Infertility Treatment Knowledge Score (FIT-KS).

    PubMed

    Kudesia, Rashmi; Chernyak, Elizabeth; McAvey, Beth

    2017-10-01

    To create, validate, and use a fertility awareness survey based on current U.S. Cross-sectional study. Not applicable. Phase 1 included U.S. women ages 18-45; phase 2 included female medical students and obstetrics and gynecology trainees at two urban academic programs. Survey including demographics, the Fertility & Infertility Treatment Knowledge Score (FIT-KS) instrument, and General Nutrition Knowledge Questionnaire. Knowledge of natural fertility and infertility treatments. The FIT-KS was validated through detailed item and validity analyses. In phase 1, 127 women participated; their median age was 31 years, and 43.7% had children. Their mean FIT-KS score was 16.2 ± 3.5 (55.9% correct). In phase 2, 118 medical trainees participated; their median age was 25 years, and 12.4% had children. Their mean FIT-KS score was 18.8 ± 2.1 (64.9% correct), with year of training correlating to a higher score (r=0.40). Participant awareness regarding lifestyle factors varied, but it was particularly low regarding the effects of lubricants. The majority underestimated the spontaneous miscarriage rate and overestimated the fecundability of 40-year-old women. There was general overestimation of success rates for assisted reproductive technologies, particularly among medical trainees. The FIT-KS is validated to current U.S. data for use in both general and medical populations as a quick assessment of fertility knowledge. The knowledge gaps demonstrated in this study correlate with national trends in delayed childbearing and time to initiate treatment. For medical trainees, these results raise concerns about the quality of fertility counseling they may be able to offer patients. Greater educational outreach must be undertaken to enhance fertility awareness. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  2. Neuropsychiatric Symptoms in People With Korsakoff Syndrome and Other Alcohol-Related Cognitive Disorders Living in Specialized Long-Term Care Facilities: Prevalence, Severity, and Associated Caregiver Distress.

    PubMed

    Gerridzen, Ineke J; Hertogh, Cees M P M; Depla, Marja F; Veenhuizen, Ruth B; Verschuur, Els M L; Joling, Karlijn J

    2018-03-01

    Caring for people with Korsakoff syndrome (KS) residing in specialized long-term care facilities (LTCFs) can be distressing because of challenging neuropsychiatric symptoms (NPS). However, good-quality studies on NPS in this under-researched population are lacking. This study examined the prevalence and severity of NPS in people with KS living in specialized LTCFs and the associated caregiver distress. Cross-sectional, observational study. Data were obtained using structured interviews with care staff, elderly care physicians, and residents. Nine specialized LTCFs in the Netherlands. KS residents admitted for at least 3 months. The prevalence and severity of NPS were measured with the Neuropsychiatric Inventory-Questionnaire (NPI-Q). The associated caregiver distress was assessed with the NPI Distress Scale (NPI-D) according to the nurse or nurse assistant. Almost all of the 281 residents (96.4%) showed at least 1 NPS and 45.8% showed 5 or more symptoms. Irritability/lability (68.3%), agitation/aggression (58.7%), and disinhibition (52.7%) were most prevalent. Although the mean level of severity for all NPS was relatively low, half of the residents (49.1%) had at least 1 severe NPS. Care staff experienced low levels of distress associated with NPS. NPS are highly prevalent in KS residents. Unexpectedly, these did not have any severe impact on residents and care staff. Acquiring more insight into the persistence and course of NPS, and its associations, among KS residents is important to better understand and reduce these symptoms and, ultimately, improve the quality of care for these residents. Copyright © 2017 AMDA – The Society for Post-Acute and Long-Term Care Medicine. Published by Elsevier Inc. All rights reserved.

  3. Amplitude Analysis of the Decay $$D^+ \\to K_s \\pi^- \\pi^+ \\pi^+$$ in the {FOCUS} Experiment (in Portuguese)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Otalora Goicochea, Juan Martin

    This thesis is devoted to the study of the decay D+ → KS π−π+π+ with data collected from the FOCUS experiment, at Fermilab. The fi state composed of 4 pseudo-scalars can be produced through a number of resonant sub-structures. The purpose of this analysis is to fi the contributing intermediate states by measuring their relative strenghts and phases. For that, the Amplitude Analysis formalism is used, with the so-called Isobar Model. The decay dynamics is described through a function which has the features of the contributing channels (functional forms of the resonances, angular distribution, etc) and which domain is amore » phase space determined by 5 invariants (due to the kinematical constraints of a 4-body spinless decay). The data sample is thus fi to this function. Our results show a dominant contribution of the axial-vector meson a1(1260) (52%), followed by the K1(1400) axial-vector (34%). Moreover, the model presents a contribution from the σ meson (about 8% as a1(σπ)KS and σKS π) and a significant contribution from the scalar κ−. The κ state has been reported in its neutral mode in other charm decays but not is its charged mode. We fi no significant contribution from the direct 4-body decay (non-resonant). This work adds to the effort in the understanding of the strong-interaction dynamics at low energies, which in recent years have been receiving an important contribution from charm meson physics.« less

  4. Search for CP violation in the decay D±→KS0π±

    NASA Astrophysics Data System (ADS)

    Del Amo Sanchez, P.; Lees, J. P.; Poireau, V.; Prencipe, E.; Tisserand, V.; Garra Tico, J.; Grauges, E.; Martinelli, M.; Milanes, D. A.; Palano, A.; Pappagallo, M.; Eigen, G.; Stugu, B.; Sun, L.; Brown, D. N.; Kerth, L. T.; Kolomensky, Yu. G.; Lynch, G.; Osipenkov, I. L.; Koch, H.; Schroeder, T.; Asgeirsson, D. J.; Hearty, C.; Mattison, T. S.; McKenna, J. A.; Khan, A.; Blinov, V. E.; Buzykaev, A. R.; Druzhinin, V. P.; Golubev, V. B.; Kravchenko, E. A.; Onuchin, A. P.; Serednyakov, S. I.; Skovpen, Yu. I.; Solodov, E. P.; Todyshev, K. Yu.; Yushkov, A. N.; Bondioli, M.; Curry, S.; Kirkby, D.; Lankford, A. J.; Mandelkern, M.; Martin, E. C.; Stoker, D. P.; Atmacan, H.; Gary, J. W.; Liu, F.; Long, O.; Vitug, G. M.; Campagnari, C.; Hong, T. M.; Kovalskyi, D.; Richman, J. D.; West, C. A.; Eisner, A. M.; Heusch, C. A.; Kroseberg, J.; Lockman, W. S.; Martinez, A. J.; Schalk, T.; Schumm, B. A.; Seiden, A.; Winstrom, L. O.; Cheng, C. H.; Doll, D. A.; Echenard, B.; Hitlin, D. G.; Ongmongkolkul, P.; Porter, F. C.; Rakitin, A. Y.; Andreassen, R.; Dubrovin, M. S.; Meadows, B. T.; Sokoloff, M. D.; Bloom, P. C.; Ford, W. T.; Gaz, A.; Nagel, M.; Nauenberg, U.; Smith, J. G.; Wagner, S. R.; Ayad, R.; Toki, W. H.; Jasper, H.; Petzold, A.; Spaan, B.; Kobel, M. J.; Schubert, K. R.; Schwierz, R.; Bernard, D.; Verderi, M.; Clark, P. J.; Playfer, S.; Watson, J. E.; Andreotti, M.; Bettoni, D.; Bozzi, C.; Calabrese, R.; Cecchi, A.; Cibinetto, G.; Fioravanti, E.; Franchini, P.; Garzia, I.; Luppi, E.; Munerato, M.; Negrini, M.; Petrella, A.; Piemontese, L.; Baldini-Ferroli, R.; Calcaterra, A.; de Sangro, R.; Finocchiaro, G.; Nicolaci, M.; Pacetti, S.; Patteri, P.; Peruzzi, I. M.; Piccolo, M.; Rama, M.; Zallo, A.; Contri, R.; Guido, E.; Lo Vetere, M.; Monge, M. R.; Passaggio, S.; Patrignani, C.; Robutti, E.; Bhuyan, B.; Prasad, V.; Lee, C. L.; Morii, M.; Edwards, A. J.; Adametz, A.; Marks, J.; Uwer, U.; Bernlochner, F. U.; Ebert, M.; Lacker, H. M.; Lueck, T.; Volk, A.; Dauncey, P. D.; Tibbetts, M.; Behera, P. K.; Mallik, U.; Chen, C.; Cochran, J.; Crawley, H. B.; Meyer, W. T.; Prell, S.; Rosenberg, E. I.; Rubin, A. E.; Gritsan, A. V.; Guo, Z. J.; Arnaud, N.; Davier, M.; Derkach, D.; Firmino da Costa, J.; Grosdidier, G.; Le Diberder, F.; Lutz, A. M.; Malaescu, B.; Perez, A.; Roudeau, P.; Schune, M. H.; Serrano, J.; Sordini, V.; Stocchi, A.; Wang, L.; Wormser, G.; Lange, D. J.; Wright, D. M.; Bingham, I.; Chavez, C. A.; Coleman, J. P.; Fry, J. R.; Gabathuler, E.; Hutchcroft, D. E.; Payne, D. J.; Touramanis, C.; Bevan, A. J.; di Lodovico, F.; Sacco, R.; Sigamani, M.; Cowan, G.; Paramesvaran, S.; Wren, A. C.; Brown, D. N.; Davis, C. L.; Denig, A. G.; Fritsch, M.; Gradl, W.; Hafner, A.; Alwyn, K. E.; Bailey, D.; Barlow, R. J.; Jackson, G.; Lafferty, G. D.; Anderson, J.; Cenci, R.; Jawahery, A.; Roberts, D. A.; Simi, G.; Tuggle, J. M.; Dallapiccola, C.; Salvati, E.; Cowan, R.; Dujmic, D.; Sciolla, G.; Zhao, M.; Lindemann, D.; Patel, P. M.; Robertson, S. H.; Schram, M.; Biassoni, P.; Lazzaro, A.; Lombardo, V.; Palombo, F.; Stracka, S.; Cremaldi, L.; Godang, R.; Kroeger, R.; Sonnek, P.; Summers, D. J.; Nguyen, X.; Simard, M.; Taras, P.; de Nardo, G.; Monorchio, D.; Onorato, G.; Sciacca, C.; Raven, G.; Snoek, H. L.; Jessop, C. P.; Knoepfel, K. J.; Losecco, J. M.; Wang, W. F.; Corwin, L. A.; Honscheid, K.; Kass, R.; Blount, N. L.; Brau, J.; Frey, R.; Igonkina, O.; Kolb, J. A.; Rahmat, R.; Sinev, N. B.; Strom, D.; Strube, J.; Torrence, E.; Castelli, G.; Feltresi, E.; Gagliardi, N.; Margoni, M.; Morandin, M.; Pompili, A.; Posocco, M.; Rotondo, M.; Simonetto, F.; Stroili, R.; Ben-Haim, E.; Bomben, M.; Bonneaud, G. R.; Briand, H.; Calderini, G.; Chauveau, J.; Hamon, O.; Leruste, Ph.; Marchiori, G.; Ocariz, J.; Prendki, J.; Sitt, S.; Biasini, M.; Manoni, E.; Rossi, A.; Angelini, C.; Batignani, G.; Bettarini, S.; Carpinelli, M.; Casarosa, G.; Cervelli, A.; Forti, F.; Giorgi, M. A.; Lusiani, A.; Neri, N.; Paoloni, E.; Rizzo, G.; Walsh, J. J.; Lopes Pegna, D.; Lu, C.; Olsen, J.; Smith, A. J. S.; Telnov, A. V.; Anulli, F.; Baracchini, E.; Cavoto, G.; Faccini, R.; Ferrarotto, F.; Ferroni, F.; Gaspero, M.; Li Gioi, L.; Mazzoni, M. A.; Piredda, G.; Renga, F.; Buenger, C.; Hartmann, T.; Leddig, T.; Schröder, H.; Waldi, R.; Adye, T.; Olaiya, E. O.; Wilson, F. F.; Emery, S.; Hamel de Monchenault, G.; Vasseur, G.; Yèche, Ch.; Allen, M. T.; Aston, D.; Bard, D. J.; Bartoldus, R.; Benitez, J. F.; Cartaro, C.; Convery, M. R.; Dorfan, J.; Dubois-Felsmann, G. P.; Dunwoodie, W.; Field, R. C.; Franco Sevilla, M.; Fulsom, B. G.; Gabareen, A. M.; Graham, M. T.; Grenier, P.; Hast, C.; Innes, W. R.; Kelsey, M. H.; Kim, H.; Kim, P.; Kocian, M. L.; Leith, D. W. G. S.; Lewis, P.; Li, S.; Lindquist, B.; Luitz, S.; Luth, V.; Lynch, H. L.; Macfarlane, D. B.; Muller, D. R.; Neal, H.; Nelson, S.; O'Grady, C. P.; Ofte, I.; Perl, M.; Pulliam, T.; Ratcliff, B. N.; Roodman, A.; Salnikov, A. A.; Santoro, V.; Schindler, R. H.; Schwiening, J.; Snyder, A.; Su, D.; Sullivan, M. K.; Sun, S.; Suzuki, K.; Thompson, J. M.; Va'Vra, J.; Wagner, A. P.; Weaver, M.; Wisniewski, W. J.; Wittgen, M.; Wright, D. H.; Wulsin, H. W.; Yarritu, A. K.; Young, C. C.; Ziegler, V.; Chen, X. R.; Park, W.; Purohit, M. V.; White, R. M.; Wilson, J. R.; Randle-Conde, A.; Sekula, S. J.; Bellis, M.; Burchat, P. R.; Miyashita, T. S.; Ahmed, S.; Alam, M. S.; Ernst, J. A.; Pan, B.; Saeed, M. A.; Zain, S. B.; Guttman, N.; Soffer, A.; Lund, P.; Spanier, S. M.; Eckmann, R.; Ritchie, J. L.; Ruland, A. M.; Schilling, C. J.; Schwitters, R. F.; Wray, B. C.; Izen, J. M.; Lou, X. C.; Bianchi, F.; Gamba, D.; Pelliccioni, M.; Lanceri, L.; Vitale, L.; Lopez-March, N.; Martinez-Vidal, F.; Oyanguren, A.; Ahmed, H.; Albert, J.; Banerjee, Sw.; Choi, H. H. F.; Hamano, K.; King, G. J.; Kowalewski, R.; Lewczuk, M. J.; Lindsay, C.; Nugent, I. M.; Roney, J. M.; Sobie, R. J.; Gershon, T. J.; Harrison, P. F.; Latham, T. E.; Puccio, E. M. T.; Band, H. R.; Dasu, S.; Flood, K. T.; Pan, Y.; Prepost, R.; Vuosalo, C. O.; Wu, S. L.

    2011-04-01

    We report on a search for CP violation in the decay D±→KS0π± using a data set corresponding to an integrated luminosity of 469fb-1 collected with the BABAR detector at the PEP-II asymmetric energy e+e- storage rings. The CP-violating decay rate asymmetry ACP is determined to be (-0.44±0.13(stat)±0.10(syst))%, consistent with zero at 2.7σ and with the standard model prediction of (-0.332±0.006)%. This is currently the most precise measurement of this parameter.

  5. To Enter the Castle of Fear: Engendering Children's Story Writing from Home to School at KS2

    ERIC Educational Resources Information Center

    Millard, Elaine

    2005-01-01

    This paper describes a small-scale writing project in which a class of KS 2 primary pupils were invited to import their own narrative interests into a task designed by their teacher and the researcher within the constraints of the National Literacy Strategy. By employing an adventure genre, based on problem and puzzle solving, pupils were…

  6. SU-E-T-625: Use and Choice of Ionization Chambers for the Commissioning of Flattened and Flattening-Filter-Free Photon Beams: Determination of Recombination Correction Factor (ks)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Stucchi, C; Mongioj, V; Carrara, M

    2014-06-15

    Purpose: To evaluate the recombination effect for some ionization chambers to be used for linacs commissioning for Flattened Filter (FF) and Flattening Filter Free (FFF) photon beams. Methods: A Varian TrueBeam linac with five photon beams was used: 6, 10 and 15 MV FF and 6 and 10 MV FFF. Measurements were performed in a water tank and in a plastic water phantom with different chambers: a mini-ion chamber (IC CC01, IBA), a plane-parallel ion chamber (IC PPC05, IBA) and two Farmer chambers (NE2581 and FPC05-IBA). Measurement conditions were Source- Surface Distance of 100 cm, two field sizes (10x10 andmore » 40x40 cm2) and five depths (1cm, maximum buildup, 5cm, 10cm and 20cm). The ion recombination factors (kS), obtained from the Jaffe's plots (voltage interval 50-400 V), were evaluated at the recommended operating voltage of +300V. Results: Dose Per Pulse (DPP) at dmax was 0.4 mGy/pulse for FF beams, 1.0 mGy/pulse and 1.9 mGy/pulse for 6MV and 10 MV FFF beams respectively. For all measurement conditions, kS ranged between 0.996 and 0.999 for IC PPC05, 0.997 and 1.008 for IC CC01. For the FPC05 IBA Farmer IC, kS varied from 1.001 to 1.011 for FF beams, from 1.004 to 1.015 for 6 MV FFF and from 1.009 to 1.025 for 10 MV FFF. Whereas, for NE2581 IC the values ranged from 1.002 to 1.009 for all energy beams and measurement conditions. Conclusion: kS depends on the chamber volume and the DPP, which in turn depends on energy beam but is independent of dose rate. Ion chambers with small active volume can be reliably used for dosimetry of FF and FFF beams even without kS correction. On the contrary, for absolute dosimetry of FFF beams by Farmer ICs it is necessary to evaluate and apply the kS correction. Partially supported by Lega Italiana Lotta contro i Tumori (LILT)« less

  7. Sediment and plankton lift off recirculations in strong synthetic turbulence (KS)

    NASA Astrophysics Data System (ADS)

    Redondo, Jose M.; Castilla, Roberto; Sekula, Emil; Furmanek, Petr

    2014-05-01

    The study of particle diffusion and of turbulent sedimentation is of great importance in many geophysical fields, such as in Environmental Science or Oceanography as well as in Bio-environmental and industrial processes. For a long time, the study of diffusion was numerically computed with random free paths, which gives Brownian behavior. (Richardson 1929). These stochastics methods have the objection that do not take into account the flow profile. On the other hand, there are many ways to simulate a fluid flow, but when this is turbulent our aim is to simulate the behaviour of neutral or heavy and inertial particles of biological or geological nature in a turbulent flow, in a simple way with a kinematically simulated model and to validate the results. We use the Kinematic Simulation (KS) model, also known as Synthetic Turbulence, suggested by Kraichnan (1966) and developed further by Castilla et al.(2007), Nicolleau et al.(2012). In this model, velocity field is generated through a Fourier series of random modes. The typical scales and the energy spectrum of the turbulence are inputs of the model. As we do not solve the flow in a discrete grid, but use a random predictive expression, we can simulate the flow at the smallest scales. In an unstratified flow, a KS flow field consists of a random, truncated Fourier representation in space and time, subject to constraints associated with incompressibility, and a prescribed initial energy spectrum. For stratified calculations, two further constraints are imposed, associated with the internal wave field in stratified flows, and the tendency of density variations to suppress vertical motion. With these model modifications, good agreement is found between KS and DNS with regard to the confinement in the vertical direction characteristic of stratified turbulence. Since stratifed flows exhibit this vertical confinement, KS in strictly two dimensions was considered as a first step to understanding dispersion within a

  8. Optimizing sensitivity to γ with B0→D K+π-, D →KS0π+π- double Dalitz plot analysis

    NASA Astrophysics Data System (ADS)

    Craik, D.; Gershon, T.; Poluektov, A.

    2018-03-01

    Two of the most powerful methods currently used to determine the angle γ of the CKM Unitarity Triangle exploit B+→D K+, D →KS0π+π- decays and B0→D K+π-, D →K+K-, π+π- decays. It is possible to combine the strengths of both approaches in a "double Dalitz plot" analysis of B0→D K+π-, D →KS0π+π- decays. The potential sensitivity of such an analysis is investigated in the light of recently published experimental information on the B0→D K+π- decay. The formalism is also expanded, compared to previous discussions in the literature, to allow B0→D K+π- with any subsequent D decay to be included.

  9. The feasibility of fertility preservation in adolescents with Klinefelter syndrome.

    PubMed

    Rives, N; Milazzo, J P; Perdrix, A; Castanet, M; Joly-Hélas, G; Sibert, L; Bironneau, A; Way, A; Macé, B

    2013-06-01

    Is fertility preservation feasible after the onset of puberty in adolescents with Klinefelter syndrome (KS)? Fertility preservation counseling should be an integral part of the care of XXY adolescents. Frozen ejaculated or testicular spermatozoa and even frozen immature germ cells can give them the potential to conceive their genetic progeny. However, no biological or clinical parameters were predictive of mature or immature germ cell retrieval. KS is the commonest sex chromosome disorder observed in azoospermic infertile males. Testicular sperm extraction success decreases with age and after testosterone therapy. Arguably, spermatozoa should be retrieved from KS males at the onset of puberty and before testosterone therapy to increase the chance of success. A retrospective study was performed in eight KS adolescents, aged between 15 and 17 years, who were referred for counseling about their future fertility to the center CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme humain) at Rouen University Hospital between October 2008 and December 2011. The patients were first seen with their parents and then separately. It was proposed to them that they should provide a semen sample, if this was azoospermic, two other semen samples spaced by 3 months were collected. If azoospermia was confirmed, a bilateral testicular biopsy was proposed for sperm retrieval and testicular tissue preservation. Each adolescent met the psychologist before undergoing testicular biopsy. Paraffin-embedded testicular tissue was evaluated after staining with hematoxylin-eosin and saffron and immunostaining using vimentin, anti-Müllerian hormone, androgen receptor and MAGE-A4 antibodies. Sertoli cell maturity, germ cell identification and lamina propria alteration were assessed on seminiferous tubules. KS adolescents were not deeply concerned about their future fertility and only became involved in the process of fertility preservation after at least three medical consultations

  10. Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome.

    PubMed

    An, Meng-Yao; Sun, Kai; Li, Yan; Pan, Ying-Ying; Yin, Yong-Qiang; Kang, Yi; Sun, Tao; Wu, Hong; Gao, Wei-Zhen; Lou, Jian-Shi

    2018-03-01

    Short QT syndrome (SQTS) is a genetic arrhythmogenic disease that can cause malignant arrhythmia and sudden cardiac death. The current therapies for SQTS have application restrictions. We previously found that Mg· (NH 2 CH 2 CH 2 SO 3 )2· H 2 O, a taurine-magnesium coordination compound (TMCC) exerted anti-arrhythmic effects with low toxicity. In this study we established 3 different models to assess the potential anti-arrhythmic effects of TMCC on type 2 short QT syndrome (SQT2). In Langendorff guinea pig-perfused hearts, perfusion of pinacidil (20 μmol/L) significantly shortened the QT interval and QTpeak and increased rTp-Te (P<0.05 vs control). Subsequently, perfusion of TMCC (1-4 mmol/L) dose-dependently increased the QT interval and QTpeak (P<0.01 vs pinacidil). TMCC perfusion also reversed the rTp-Te value to the normal range. In guinea pig ventricular myocytes, perfusion of trapidil (1 mmol/L) significantly shortened the action potential duration at 50% (APD 50 ) and 90% repolarization (APD 90 ), which was significantly reversed by TMCC (0.01-1 mmol/L, P<0.05 vs trapidil). In HEK293 cells that stably expressed the outward delayed rectifier potassium channels (I Ks ), perfusion of TMCC (0.01-1 mmol/L) dose-dependently inhibited the IKs current with an IC 50 value of 201.1 μmol/L. The present study provides evidence that TMCC can extend the repolarization period and inhibit the repolarizing current, I Ks , thereby representing a therapeutic candidate for ventricular arrhythmia in SQT2.

  11. Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

    PubMed Central

    Suzuki, O. T.; Sertié, A. L.; Der Kaloustian, V. M.; Kok, F.; Carpenter, M.; Murray, J.; Czeizel, A. E.; Kliemann, S. E.; Rosemberg, S.; Monteiro, M.; Olsen, B. R.; Passos-Bueno, M. R.

    2002-01-01

    Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect. The responsible gene, COL18A1, has been mapped to 21q22.3, and, on the basis of the analysis of one family, we have demonstrated that a mutation affecting only one of the three COL18A1 isoforms causes this phenotype. We report here the results of the screening of both the entire coding region and the exon-intron boundaries of the COL18A1 gene (which includes 43 exons), in eight unrelated patients with KS. Besides 20 polymorphic changes, we identified 6 different pathogenic changes in both alleles of five unrelated patients with KS (three compound heterozygotes and two homozygotes). All are truncating mutations leading to deficiency of one or all collagen XVIII isoforms and endostatin. We have verified that, in exon 41, the deletion c3514-3515delCT, found in three unrelated alleles, is embedded in different haplotypes, suggesting that this mutation has occurred more than once. In addition, our results provide evidence of nonallelic genetic heterogeneity in KS. We also show that the longest human isoform (NC11-728) is expressed in several tissues (including the human eye) and that lack of either the short variant or all of the collagen XVIII isoforms causes similar phenotypes but that those patients who lack all forms present more-severe ocular alterations. Despite the small sample size, we found low endostatin plasma levels in those patients with mutations leading to deficiency of all isoforms; in addition, it seems that absence of all collagen XVIII isoforms causes predisposition to epilepsy. PMID:12415512

  12. 77 FR 42625 - Modification of VOR Federal Airways V-10, V-12, and V-508 in the Vicinity of Olathe, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-07-20

    ...-0055; Airspace Docket No. 11-ACE-12] RIN 2120-AA66 Modification of VOR Federal Airways V-10, V-12, and V-508 in the Vicinity of Olathe, KS AGENCY: Federal Aviation Administration (FAA), DOT. [[Page 42626

  13. Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility.

    PubMed

    van Rijn, Sophie; Bierman, Marit; Bruining, Hilgo; Swaab, Hanna

    2012-10-01

    The XXY chromosomal pattern (Klinefelter syndrome, KS) has been associated with specific effects on physical, neurobiological, endocrinological and psychological development. This study was focused on the described risk for autism in KS, and the cognitive mechanisms that mediate this risk. Our aim was to assess whether autistic features in KS result from impairments in executive functioning, more specifically difficulties in cognitive flexibility. In total, 71 boys and men with KS and 61 non-clinical controls participated in the study. Autistic features were assessed using the Autism-spectrum Quotient (AQ). Mental flexibility was measured using the Wisconsin Card Sorting Test (WCST). The level of autism traits was significantly increased in the KS group, the effect size for total AQ score was 1.6. The KS group also showed significantly more difficulties in cognitive flexibility, as indicated by and increased number of perseverative (but not non-perseverative) errors in the WCST. This effect was independent of intellectual functioning, age or testosterone supplements. Within the KS group, the number of perseverative errors was significantly (positively) correlated with total AQ score. Our findings suggest that KS can be associated with dysfunctions in mental flexibility, and that individuals with more mental flexibility problems also have more autism traits. This insight is relevant for diagnosis, prevention and treatment of severe problems in individuals with KS. Implications also extend beyond this specific syndrome. As executive dysfunctions in KS have also been linked to ADHD symptoms and thought disorder, this could be a shared mechanism contributing to overlap in symptoms and comorbidity between different psychiatric conditions. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. 77 FR 9876 - Proposed Modification of VOR Federal Airways V-10, V-12, and V-508 in the Vicinity of Olathe, KS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-21

    ... (OJC) VOR/DME navigation aid located on the Johnson County Executive Airport, Olathe, KS, due to poor performance of the navigation aid. The OJC VOR/DME performs poorly due to suburban encroachment into the...

  15. Neuroimaging of the Wernicke–Korsakoff Syndrome

    PubMed Central

    Sullivan, Edith V.; Pfefferbaum, Adolf

    2009-01-01

    Aim: Presented is the neuroradiological signature of acute Wernicke's encephalopathy (WE), derived from different types of magnetic resonance imaging (MRI) sequences. WE results from thiamine depletion, and its most typical antecedent is chronic alcohol dependence. Brain regions observed with in vivo MRI affected in acute WE include the mammillary bodies, periaqueductal and periventricular gray matter, collicular bodies and thalamus. These affected areas are usually edematous and are best visualized and quantified with MRI sequences that highlight such tissue. Following the acute WE phase and resolution of edema and inflammation of affected brain tissue, WE, if not adequately treated with thiamine repletion, can herald Korsakoff's syndrome (KS), with its symptomatic hallmark of global amnesia, that is, the inability to commit newly encountered (episodic) information to memory for later recall or recognition. Methods: Neuropathology of KS detectable with MRI has a different neuroradiological signature from the acute stage and can be observed as tissue shrinkage or atrophy of selective brain structures, including the mammillary bodies and thalamus and ventricular expansion, probably indicative of atrophy of surrounding gray matter nuclei. Quantification of these and additional gray matter structures known to underlie global amnesia reveal substantial bilateral volume deficits in the hippocampus, in addition to the mammillary bodies and thalamus, and modest deficits in the medial septum/diagonal band of Broca. The infratentorium is also affected, exhibiting volume deficits in cerebellar hemispheres, anterior superior vermis and pons, contributing to ataxia of gait and stance. Results: Consideration of WKS structural brain changes in the context of the neuropathology of non-WKS alcoholism revealed a graded pattern of volume deficits, from mild in non-WKS alcoholics to moderate or severe in WKS, in the mammillary bodies, hippocampus, thalamus, cerebellum and pons. The

  16. Neuroimaging of the Wernicke-Korsakoff syndrome.

    PubMed

    Sullivan, Edith V; Pfefferbaum, Adolf

    2009-01-01

    Presented is the neuroradiological signature of acute Wernicke's encephalopathy (WE), derived from different types of magnetic resonance imaging (MRI) sequences. WE results from thiamine depletion, and its most typical antecedent is chronic alcohol dependence. Brain regions observed with in vivo MRI affected in acute WE include the mammillary bodies, periaqueductal and periventricular gray matter, collicular bodies and thalamus. These affected areas are usually edematous and are best visualized and quantified with MRI sequences that highlight such tissue. Following the acute WE phase and resolution of edema and inflammation of affected brain tissue, WE, if not adequately treated with thiamine repletion, can herald Korsakoff's syndrome (KS), with its symptomatic hallmark of global amnesia, that is, the inability to commit newly encountered (episodic) information to memory for later recall or recognition. Neuropathology of KS detectable with MRI has a different neuroradiological signature from the acute stage and can be observed as tissue shrinkage or atrophy of selective brain structures, including the mammillary bodies and thalamus and ventricular expansion, probably indicative of atrophy of surrounding gray matter nuclei. Quantification of these and additional gray matter structures known to underlie global amnesia reveal substantial bilateral volume deficits in the hippocampus, in addition to the mammillary bodies and thalamus, and modest deficits in the medial septum/diagonal band of Broca. The infratentorium is also affected, exhibiting volume deficits in cerebellar hemispheres, anterior superior vermis and pons, contributing to ataxia of gait and stance. Consideration of WKS structural brain changes in the context of the neuropathology of non-WKS alcoholism revealed a graded pattern of volume deficits, from mild in non-WKS alcoholics to moderate or severe in WKS, in the mammillary bodies, hippocampus, thalamus, cerebellum and pons. The development and

  17. Detection of the secondary eclipse of Qatar-1b in the Ks band

    NASA Astrophysics Data System (ADS)

    Cruz, Patricia; Barrado, David; Lillo-Box, Jorge; Diaz, Marcos; Birkby, Jayne; López-Morales, Mercedes; Fortney, Jonathan J.

    2016-10-01

    Aims: Qatar-1b is a close-orbiting hot Jupiter (Rp ≃ 1.18 RJ, Mp ≃ 1.33 MJ) around a metal-rich K-dwarf, with orbital separation and period of 0.023 AU and 1.42 days. We have observed the secondary eclipse of this exoplanet in the Ks band with the objective of deriving a brightness temperature for the planet and providing further constraints to the orbital configuration of the system. Methods: We obtained near-infrared photometric data from the ground by using the OMEGA2000 instrument at the 3.5 m telescope at Calar Alto (Spain) in staring mode, with the telescope defocused. We have used principal component analysis (PCA) to identify correlated systematic trends in the data. A Markov chain Monte Carlo analysis was performed to model the correlated systematics and fit for the secondary eclipse of Qatar-1b using a previously developed occultation model. We adopted the prayer bead method to assess the effect of red noise on the derived parameters. Results: We measured a secondary eclipse depth of 0.196%+ 0.071%-0.051%, which indicates a brightness temperature in the Ks band for the planet of 1885+ 212-168 K. We also measured a small deviation in the central phase of the secondary eclipse of -0.0079+ 0.0162-0.0043, which leads to a value for ecosω of -0.0123+ 0.0252-0.0067. However, this last result needs to be confirmed with more data. Based on observations collected at the Calar Alto Observatory, Almería, Spain.Lightcurve data are only available at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr (http://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/595/A61

  18. Weekly docetaxel is safe and effective in the treatment of advanced-stage acquired immunodeficiency syndrome-related Kaposi sarcoma.

    PubMed

    Lim, Soon Thye; Tupule, Anil; Espina, Byron M; Levine, Alexandra M

    2005-01-15

    Intravenous paclitaxel, 100 mg/m(2), given over 3 hours every 2 weeks is associated with a response rate of 59% in patients with recurrent or refractory acquired immunodeficiency syndrome (AIDS)-related Kaposi sarcoma (KS). However, this regimen is associated with significant myelosuppression, and the inconvenience of a 3-hour infusion. Moreover, no effective therapies have been defined for use after treatment failure with this agent. A Phase II trial was conducted with weekly docetaxel in patients with advanced-stage KS to assess safety and antitumor activity. Docetaxel was administered at a dose of 25 mg/m(2) intravenously over 15-30 minutes weekly for 8 weeks. Thereafter, if the patient experienced stable disease or better response, treatment doses were given every other week until complete disease remission, disease progression, or unacceptable toxicity occurred. Twelve patients were accrued-9 had > 25 mucocutaneous lesions, 1 had lymphedema, and 2 had visceral involvement. Ten patients (83%) had previous systemic chemotherapy, including 4 who received previous paclitaxel. Treatment was well tolerated, with no Grade 4 toxicity of any type. Grade 3 neutropenia occurred in 33% of patients but no patient had neutropenic fever. Five patients (42%) achieved a partial response, including 1 who had previously failed to respond to paclitaxel. The median time to disease progression was 26 months (range, 5-53 months). With a median follow-up period of 45 months, the median survival point had not been reached. Weekly docetaxel is safe, with reasonable antitumor activity in patients with advanced-stage, recurrent, or refractory AIDS-related KS. (c) 2004 American Cancer Society.

  19. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

    PubMed

    Samango-Sprouse, Carole; Lawson, Patrick; Sprouse, Courtney; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea

    2016-05-01

    Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination < 45. On the Receptive One Word Picture Vocabulary Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed. © 2016 Wiley Periodicals, Inc.

  20. Perioperative Anaphylaxis Including Kounis Syndrome due to Selective Cefazolin Allergy.

    PubMed

    Mota, Inês; Gaspar, Ângela; Morais-Almeida, Mário

    2018-06-18

    Perioperative use of cefazolin has been associated with severe allergic reactions, and patients are usually labelled as allergic to penicillin afterwards. The aim of our study was to describe a group of patients with immediate reactions to cefazolin, with proven selective hypersensitivity reactions. Systematic review of all patients followed at our drug centre with cefazolin-related reactions, between January 2012 and December 2016. All patients were investigated according to the European Network for Drug Allergy (ENDA) recommendations through skin testing (major and minor penicillin determinants, penicillin, amoxicillin, cefazolin, cefuroxime and ceftriaxone) and oral challenges tests. We included 7 patients (median age 40 years) with perioperative anaphylactic reactions immediately after cefazolin injection, 4 with hypotension and 1 with Kounis syndrome (KS) type I. The presence of a selective IgE-mediated hypersensitivity through positive skin tests to cefazoline has been proven in all patients. Two patients experienced systemic reactions during skin testing. All patients were successfully challenged with amoxicillin, and they tolerated cefuroxime. Cefazolin can be responsible for immediate severe allergic reactions in perioperative setting, including KS. Allergological workup is essential for an accurate diagnosis and to explore cross-reactivity between cefazolin and other beta-lactams. Our experience confirmed that patients with IgE-mediated hypersensitivity reactions to cefazolin can tolerate other beta-lactams. This selective pattern of clinical reactivity may be explained by its particular chemical structure, whose R1 side-chain is different from other beta-lactams. © 2018 S. Karger AG, Basel.

  1. Isolation and identification of Aeromonas caviae strain KS-1 as TBTC- and lead-resistant estuarine bacteria.

    PubMed

    Shamim, Kashif; Naik, Milind Mohan; Pandey, Anju; Dubey, Santosh Kumar

    2013-06-01

    Tributyltin chloride (TBTC)- and lead-resistant estuarine bacterium from Mandovi estuary, Goa, India was isolated and identified as Aeromonas caviae strain KS-1 based on biochemical characteristics and FAME analysis. It tolerates TBTC and lead up to 1.0 and 1.4 mM, respectively, in the minimal salt medium (MSM) supplemented with 0.4 % glucose. Scanning electron microscopy clearly revealed a unique morphological pattern in the form of long inter-connected chains of bacterial cells on exposure to 1 mM TBTC, whereas cells remained unaltered in presence of 1.4 mM Pb(NO₃)₂ but significant biosorption of lead (8 %) on the cell surface of this isolate was clearly revealed by scanning electron microscopy coupled with energy dispersive X-ray spectroscopy. SDS-PAGE analysis of whole-cell proteins of this lead-resistant isolate interestingly demonstrated three lead-induced proteins with molecular mass of 15.7, 16.9 and 32.4 kDa, respectively, when bacterial cells were grown under the stress of 1.4 mM Pb (NO₃)₂. This clearly demonstrated their possible involvement exclusively in lead resistance. A. caviae strain KS-1 also showed tolerance to several other heavy metals, viz. zinc, cadmium, copper and mercury. Therefore, we can employ this TBTC and lead-resistant bacterial isolate for lead bioremediation and also for biomonitoring TBTC from lead and TBTC contaminated environment.

  2. Quantification of oral palatine Langerhans cells in HIV/AIDS associated oral Kaposi sarcoma with and without oral candidiasis.

    PubMed

    Jivan, Vibha; Meer, Shabnum

    2016-01-01

    Langerhans cells (LCs) are effective antigen-presenting cells that function as "custodians" of mucosa, modifying the immune system to pathogen entry, and tolerance to self-antigen and commensal microbes. A reduction in number of LCs in human immunodeficiency virus (HIV)-positive individuals may predispose to local mucosal infections. To quantitatively determine the number of oral mucosal LCs in HIV/acquired immunodeficiency syndrome HIV/acquired immunodeficiency syndrome (AIDS) associated oral Kaposi sarcoma (KS) with/without oral candidiasis (OC) and to define in situ interrelationships between the cells, OC, and HIV infection. Thirty-two periodic acid-Schiff. (PAS) stained histologic sections of palatal HIV/AIDS associated KS with intact oral epithelium were examined for Candida and divided into two groups: . (1) KS coinfected with Candida and. (2) KS noninfected with Candida. Sections were immunohistochemically stained with CD1a. The standard length of surface epithelium was measured and number of positively stained LCs counted per unit length. Control cases included non-Candida infected palatal mucosa overlying pleomorphic adenoma. (PA) and oral mucosa infected with Candida in otherwise healthy individuals. LC number per unit length of surface epithelium was statistically significantly greatest in uninfected PA mucosa and lowest in KS coinfected with Candida (P = 0.0001). A statistically significant difference was also noted between uninfected PA mucosa and non-Candida infected KS (P = 0.0014), in KS coinfected with Candida and non-infected KS (P = 0.0035), between OC and PA (P = 0.0001), and OC and KS coinfected with Candida (P = 0.0247). LC numbers are significantly reduced in oral tissues of HIV/AIDS infected patients by Candida infection when compared to oral tissues without.

  3. Insights into Nitrate-Reducing Fe(II) Oxidation Mechanisms through Analysis of Cell-Mineral Associations, Cell Encrustation, and Mineralogy in the Chemolithoautotrophic Enrichment Culture KS.

    PubMed

    Nordhoff, M; Tominski, C; Halama, M; Byrne, J M; Obst, M; Kleindienst, S; Behrens, S; Kappler, A

    2017-07-01

    Most described nitrate-reducing Fe(II)-oxidizing bacteria (NRFeOB) are mixotrophic and depend on organic cosubstrates for growth. Encrustation of cells in Fe(III) minerals has been observed for mixotrophic NRFeOB but not for autotrophic phototrophic and microaerophilic Fe(II) oxidizers. So far, little is known about cell-mineral associations in the few existing autotrophic NRFeOB. Here, we investigate whether the designated autotrophic Fe(II)-oxidizing strain (closely related to Gallionella and Sideroxydans ) or the heterotrophic nitrate reducers that are present in the autotrophic nitrate-reducing Fe(II)-oxidizing enrichment culture KS form mineral crusts during Fe(II) oxidation under autotrophic and mixotrophic conditions. In the mixed culture, we found no significant encrustation of any of the cells both during autotrophic oxidation of 8 to 10 mM Fe(II) coupled to nitrate reduction and during cultivation under mixotrophic conditions with 8 to 10 mM Fe(II), 5 mM acetate, and 4 mM nitrate, where higher numbers of heterotrophic nitrate reducers were present. Two pure cultures of heterotrophic nitrate reducers ( Nocardioides and Rhodanobacter ) isolated from culture KS were analyzed under mixotrophic growth conditions. We found green rust formation, no cell encrustation, and only a few mineral particles on some cell surfaces with 5 mM Fe(II) and some encrustation with 10 mM Fe(II). Our findings suggest that enzymatic, autotrophic Fe(II) oxidation coupled to nitrate reduction forms poorly crystalline Fe(III) oxyhydroxides and proceeds without cellular encrustation while indirect Fe(II) oxidation via heterotrophic nitrate-reduction-derived nitrite can lead to green rust as an intermediate mineral and significant cell encrustation. The extent of encrustation caused by indirect Fe(II) oxidation by reactive nitrogen species depends on Fe(II) concentrations and is probably negligible under environmental conditions in most habitats. IMPORTANCE Most described nitrate

  4. Insights into Nitrate-Reducing Fe(II) Oxidation Mechanisms through Analysis of Cell-Mineral Associations, Cell Encrustation, and Mineralogy in the Chemolithoautotrophic Enrichment Culture KS

    PubMed Central

    Nordhoff, M.; Tominski, C.; Halama, M.; Byrne, J. M.; Obst, M.; Behrens, S.

    2017-01-01

    ABSTRACT Most described nitrate-reducing Fe(II)-oxidizing bacteria (NRFeOB) are mixotrophic and depend on organic cosubstrates for growth. Encrustation of cells in Fe(III) minerals has been observed for mixotrophic NRFeOB but not for autotrophic phototrophic and microaerophilic Fe(II) oxidizers. So far, little is known about cell-mineral associations in the few existing autotrophic NRFeOB. Here, we investigate whether the designated autotrophic Fe(II)-oxidizing strain (closely related to Gallionella and Sideroxydans) or the heterotrophic nitrate reducers that are present in the autotrophic nitrate-reducing Fe(II)-oxidizing enrichment culture KS form mineral crusts during Fe(II) oxidation under autotrophic and mixotrophic conditions. In the mixed culture, we found no significant encrustation of any of the cells both during autotrophic oxidation of 8 to 10 mM Fe(II) coupled to nitrate reduction and during cultivation under mixotrophic conditions with 8 to 10 mM Fe(II), 5 mM acetate, and 4 mM nitrate, where higher numbers of heterotrophic nitrate reducers were present. Two pure cultures of heterotrophic nitrate reducers (Nocardioides and Rhodanobacter) isolated from culture KS were analyzed under mixotrophic growth conditions. We found green rust formation, no cell encrustation, and only a few mineral particles on some cell surfaces with 5 mM Fe(II) and some encrustation with 10 mM Fe(II). Our findings suggest that enzymatic, autotrophic Fe(II) oxidation coupled to nitrate reduction forms poorly crystalline Fe(III) oxyhydroxides and proceeds without cellular encrustation while indirect Fe(II) oxidation via heterotrophic nitrate-reduction-derived nitrite can lead to green rust as an intermediate mineral and significant cell encrustation. The extent of encrustation caused by indirect Fe(II) oxidation by reactive nitrogen species depends on Fe(II) concentrations and is probably negligible under environmental conditions in most habitats. IMPORTANCE Most described nitrate

  5. Sheehan syndrome

    MedlinePlus

    ... GJ, Sibley CP, Jauniaux ERM. Placental anatomy and physiology. In: Gabbe SG, Niebyl JR, Simpson JL, et ... 2017:chap 1. Kaiser U, Ho KKY. Pitutary physiology and diagnostic evaluation. In: Melmed S, Polonsky KS, Larsen ...

  6. Empty sella syndrome

    MedlinePlus

    Kaiser U, Ho KKY. Pituitary physiology and diagnostic evaluation. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; ...

  7. A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.

    PubMed

    Heidari, Mohammad Mehdi; Khatami, Mehri; Kargar, Saeed; Azari, Mojdeh; Hoseinzadeh, Hassan; Fallah, Hamedeh

    2016-06-01

    Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. The aim of this investigation was to analyze mutations in the exons 1 to 15 of KIND1 gene in an Iranian family clinically affected with Kindler syndrome. The mutations analysis of 15 coding exons of KIND1 gene was performed with PCR-SSCP and direct sequencing in 14 subjects from one Iranian family clinically affected with Kindler syndrome. We identified eight new nucleotide changes in KIND1 in this family. These changes were found in g.3892delA, g.3951T>C, g.3962T>G, g.4190G>T, g.7497G>A, g.11076T>C, g.11102C>T and g.13177C>T positions. Among them, the g.13177C>T mutation resulting in the formation of a premature stop codon (Q226X) was detected only in seven affected family individuals as homozygous but was not present in 100 unrelated healthy controls. This study suggests that nonsense mutation may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome.

  8. Flight Test of the Aerojet 7KS-6000 T-27 Jato Rocket Motor

    NASA Technical Reports Server (NTRS)

    Bond, Aleck C.; Thibodaux, Joseph G., Jr.

    1949-01-01

    A flight test of the Aero jet Engineering Corporation's 7KS-6000 T-27 Jato rocket motor was conducted at the Langley Pilotless Aircraft Research Station at Wallops Island, Va, to determine the flight performance characteristics of the motor. The flight test imposed an absolute longitudinal acceleration of 9.8 g upon the rocket motor at 2.8 seconds after launching. The total impulse developed by the motor was 43,400 pound-seconds, and the thrusting time was 7.58 seconds. The maximum thrust was 7200 pounds and occurred at 4.8 seconds after launching. No thrust irregularities attributable to effects of the flight longitudinal acceleration were observed. Certain small thrust irregularities occurred in the flight test which appear to correspond to irregularities observed in static tests conducted elsewhere. A hypothesis regarding the origin of these small irregularities is presented.

  9. Deep Sequencing-Identified Kanamycin-Resistant Paenibacillus sp. Strain KS1 Isolated from Epiphyte Tillandsia usneoides (Spanish Moss) in Central Florida, USA

    PubMed Central

    Govindarajan, Subramaniam S.; Qi, Feng; Li, Jian-Liang; Sahoo, Malaya K.

    2017-01-01

    ABSTRACT Paenibacillus sp. strain KS1 was isolated from an epiphyte, Tillandsia usneoides (Spanish moss), in central Florida, USA. Here, we report a draft genome sequence of this strain, which consists of a total of 398 contigs spanning 6,508,195 bp, with a G+C content of 46.5% and comprising 5,401 predicted coding sequences. PMID:28153888

  10. Deep Sequencing-Identified Kanamycin-Resistant Paenibacillus sp. Strain KS1 Isolated from Epiphyte Tillandsia usneoides (Spanish Moss) in Central Florida, USA.

    PubMed

    Lata, Pushpa; Govindarajan, Subramaniam S; Qi, Feng; Li, Jian-Liang; Sahoo, Malaya K

    2017-02-02

    Paenibacillus sp. strain KS1 was isolated from an epiphyte, Tillandsia usneoides (Spanish moss), in central Florida, USA. Here, we report a draft genome sequence of this strain, which consists of a total of 398 contigs spanning 6,508,195 bp, with a G+C content of 46.5% and comprising 5,401 predicted coding sequences. Copyright © 2017 Lata et al.

  11. Patterns of prefrontal dysfunction in alcoholics with and without Korsakoff’s syndrome, patients with Parkinson’s disease, and patients with rupture and repair of the anterior communicating artery

    PubMed Central

    Dirksen, Courtney L; Howard, Julie A; Cronin-Golomb, Alice; Oscar-Berman, Marlene

    2006-01-01

    This study compared patterns of frontal-lobe dysfunction in alcoholics with Korsakoff’s syndrome (KS: n = 9), non-Korsakoff alcoholics (AL: n = 28), patients with Parkinson’s disease (PD: n = 18), and patients with rupture and repair of the anterior communicating artery (ACoA: n = 4) relative to healthy non-neurological control (NC) participants (n = 70). The tests administered were sensitive to functions of dorsolateral prefrontal and orbito-frontal subsystems. Measures included perseverative errors on the Wisconsin Card Sorting Test (WCST-pe), errors on object alternation (OA), errors on Trails B, number of words generated on the Controlled Oral Word Association Test (COWAT), and number of categories completed on the WCST (WCST-cc). KS patients were as impaired as AL participants on orbitofrontal measures and, on dorsolateral prefrontal measures, were impaired relative to AL participants, whose performance did not differ from controls. Patients with PD also were impaired on tests of orbitofrontal and dorsolateral prefrontal functioning but to a lesser extent than the KS patients. Moreover, most of the PD deficits were driven by the impaired performance of patients whose initial symptoms were on the right side of the body. The ACoA patients were significantly impaired on tests of orbitofrontal but not dorsolateral prefrontal functioning relative to the control group. Together, the results confirm different patterns of frontal-system impairments in patient groups having compromised frontal lobe functioning consequent to varying etiologies. PMID:19412479

  12. AmeriFlux US-KS2 Kennedy Space Center (scrub oak)

    DOE Data Explorer

    Drake, Bert [Smithsonian Environmental Research Center; Hinkle, Ross [University of Central Florida

    2016-01-01

    This is the AmeriFlux version of the carbon flux data for the site US-KS2 Kennedy Space Center (scrub oak). Site Description - The Kennedy Space Center Scrub Oak site is located within the Merritt Island National Wildlife Refuge at the Kennedy Space Center (KSC) on the east coast of central Florida. Situated in a 10 ha scrub oak ecosystem, the surrounding stand was completely burned by a prescribed fire in 1996. The purpose of the burn was to control understory fuel load, which has been a common practice since 1969. Within a few weeks of the 1996 burn, the stand began to naturally regenerate from roots and rhizomes. Most scrub oak stands in the region undergo a 7 to 10 year disturbance cycle, mostly related to fire or hurricane activity. A severe drought gripped most of Florida beginning in 1998 until the later half of 2001 resulting in four years of relatively low amount of annual rainfall. Exceptionally high annual rainfall amount in 2004 was the result of a pair of hurricanes that hit the area in August and September of 2004. Prevaling wind directions for the site are as follows: W to NW in the winter, afternoon E sea breeze in the summer.

  13. VizieR Online Data Catalog: HD61005 SPHERE H and Ks images (Olofsson+, 2016)

    NASA Astrophysics Data System (ADS)

    Olofsson, J.; Samland, M.; Avenhaus, H.; Caceres, C.; Henning, T.; Moor, A.; Milli, J.; Canovas, H.; Quanz, S. P.; Schreiber, M. R.; Augereau, J.-C.; Bayo, A.; Bazzon, A.; Beuzit, J.-L.; Boccaletti, A.; Buenzli, E.; Casassus, S.; Chauvin, G.; Dominik, C.; Desidera, S.; Feldt, M.; Gratton, R.; Janson, M.; Lagrange, A.-M.; Langlois, M.; Lannier, J.; Maire, A.-L.; Mesa, D.; Pinte, C.; Rouan, D.; Salter, G.; Thalmann, C.; Vigan, A.

    2016-05-01

    The fits files contains the reduced ADI and DPI SPHERE observations used to produce Fig. 1 of the paper. Besides the primary card, the files consists of 6 additional ImageHDU. The first and second one contain the SPHERE IRDIS ADI H band observations and the noise map. The third and fourth contain the SPHERE IRDIS ADI Ks band observations and the corresponding noise map. Finally, the fifth and sixth ImageHDU contain the SPHERE IRDIS DPI H band data as well as the noise map. Each ADI image has 1024x1024 pixels, while the DPI images have 1800x1800 pixels. The header of the primary card contains the pixel sizes for each datasets and the wavelengths of the H and K band observations. (2 data files).

  14. Intrusions and provoked and spontaneous confabulations on memory tests in Korsakoff's syndrome.

    PubMed

    Rensen, Yvonne C M; Oosterman, Joukje M; Walvoort, Serge J W; Eling, Paul A T M; Kessels, Roy P C

    2017-03-01

    Intrusions on verbal memory tests have been used as an index for clinical confabulation. Severe memory impairments in combination with executive dysfunction have been suggested to be the underlying mechanism of confabulation, but to date, this relation is unclear. The aim of this study was (a) to examine the relation between (different types of) intrusions and confabulations in a large sample of confabulating patients with Korsakoff's syndrome (KS) and (b) to investigate whether different measures of executive functioning and memory performance are related to provoked and spontaneous confabulation. The Dutch version of the California Verbal Learning Test (CVLT) and various executive function and memory tests were administered to a group of 51 confabulating patients with KS. Professional caregivers rated the severity of provoked and spontaneous confabulation behavior of the patients using the Nijmegen-Venray Confabulation List-20 (NVCL-20). The total number of intrusions on the CVLT was not related to either provoked or spontaneous confabulation scores. None of the CVLT intrusion scores correlated significantly with any of the confabulation scores, but we did find small-to-medium, positive correlations between unrelated intrusions and both provoked confabulations and spontaneous confabulation. Provoked confabulation behavior was associated with executive dysfunction and poorer memory performances. Spontaneous confabulation was not related to performance on measures of executive function and memory. The total number of intrusions on verbal memory tests and clinical confabulations appear to be different phenomena. Only unrelated intrusions produced on the CVLT might possibly be related to confabulations. The production of provoked, but not spontaneous, confabulation is associated with executive dysfunction and memory deficits.

  15. Ketide Synthase (KS) Domain Prediction and Analysis of Iterative Type II PKS Gene in Marine Sponge-Associated Actinobacteria Producing Biosurfactants and Antimicrobial Agents

    PubMed Central

    Selvin, Joseph; Sathiyanarayanan, Ganesan; Lipton, Anuj N.; Al-Dhabi, Naif Abdullah; Valan Arasu, Mariadhas; Kiran, George S.

    2016-01-01

    The important biological macromolecules, such as lipopeptide and glycolipid biosurfactant producing marine actinobacteria were analyzed and their potential linkage between type II polyketide synthase (PKS) genes was explored. A unique feature of type II PKS genes is their high amino acid (AA) sequence homology and conserved gene organization. These enzymes mediate the biosynthesis of polyketide natural products with enormous structural complexity and chemical nature by combinatorial use of various domains. Therefore, deciphering the order of AA sequence encoded by PKS domains tailored the chemical structure of polyketide analogs still remains a great challenge. The present work deals with an in vitro and in silico analysis of PKS type II genes from five actinobacterial species to correlate KS domain architecture and structural features. Our present analysis reveals the unique protein domain organization of iterative type II PKS and KS domain of marine actinobacteria. The findings of this study would have implications in metabolic pathway reconstruction and design of semi-synthetic genomes to achieve rational design of novel natural products. PMID:26903957

  16. A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

    PubMed

    Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

    2015-01-01

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

  17. Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome.

    PubMed

    Wikström, Anne M; Bay, Katrine; Hero, Matti; Andersson, Anna-Maria; Dunkel, Leo

    2006-11-01

    Levels of the Leydig cell-specific hormone insulin-like factor 3 (INSL3) are incompletely characterized in boys during pubertal development. The objective of the study was to characterize changes in INSL3 levels during spontaneous puberty in healthy boys, boys with aromatase inhibitor-induced hypergonadotropic hyperandrogenism, and boys with Leydig cell dysfunction. This was a prospective clinical study. The study was conducted at a university hospital pediatric endocrinology outpatient clinic. Patients included 30 healthy boys with idiopathic short stature (ISS) aged 9.0-14.5 yr and 14 boys with Klinefelter syndrome (KS) aged 10-13.9 yr. In ISS boys, intervention included aromatase inhibitor letrozole or placebo for 24 months. Serum INSL3 levels in relation to bone age, Tanner pubertal stages, and LH and testosterone levels were measured. Onset of puberty was associated with a significant increase in INSL3 levels from 0.06 +/- 0.01 ng/ml at Tanner G1 to 0.32 +/- 0.16 ng/ml at G2 (P < 0.0001). Adult INSL3 levels (> or = 0.55 ng/ml) were attained at bone age 13-14 yr. ISS boys with letrozole-induced hypergonadotropic hyperandrogenism had, after 12 months of therapy, higher INSL3 levels than did placebo treated (0.85 +/- 0.54 vs. 0.26 +/- 0.17 ng/ml, P < 0.01). In KS boys during spontaneous puberty, after an initial increase similar to that in healthy boys, INSL3 concentrations leveled off despite hyperstimulation by LH. Positive correlations occurred between serum INSL3 and LH and between INSL3 and testosterone levels in all three groups (P < 0.0001). In boys, the Leydig cell-specific hormone INSL3 may serve as a new marker for onset and progression of puberty. Pubertal increase in INSL3 levels seems to depend on LH. In KS subjects, INSL3 concentrations indicate Leydig cell dysfunction from midpuberty onward.

  18. Translation and validation of the new version of the Knee Society Score - The 2011 KS Score - into Brazilian Portuguese.

    PubMed

    Silva, Adriana Lucia Pastore E; Croci, Alberto Tesconi; Gobbi, Riccardo Gomes; Hinckel, Betina Bremer; Pecora, José Ricardo; Demange, Marco Kawamura

    2017-01-01

    Translation, cultural adaptation, and validation of the new version of the Knee Society Score - The 2011 KS Score - into Brazilian Portuguese and verification of its measurement properties, reproducibility, and validity. In 2012, the new version of the Knee Society Score was developed and validated. This scale comprises four separate subscales: (a) objective knee score (seven items: 100 points); (b) patient satisfaction score (five items: 40 points); (c) patient expectations score (three items: 15 points); and (d) functional activity score (19 items: 100 points). A total of 90 patients aged 55-85 years were evaluated in a clinical cross-sectional study. The pre-operative translated version was applied to patients with TKA referral, and the post-operative translated version was applied to patients who underwent TKA. Each patient answered the same questionnaire twice and was evaluated by two experts in orthopedic knee surgery. Evaluations were performed pre-operatively and three, six, or 12 months post-operatively. The reliability of the questionnaire was evaluated using the intraclass correlation coefficient (ICC) between the two applications. Internal consistency was evaluated using Cronbach's alpha. The ICC found no difference between the means of the pre-operative, three-month, and six-month post-operative evaluations between sub-scale items. The Brazilian Portuguese version of The 2011 KS Score is a valid and reliable instrument for objective and subjective evaluation of the functionality of Brazilian patients who undergo TKA and revision TKA.

  19. Antiproliferative properties of toremifene on AIDS-related Kaposi's sarcoma cells.

    PubMed

    Hong, Angela; Leigh, Bryan R

    2002-12-01

    Kaposi's sarcoma (KS) is the most common neoplastic apoptosis manifestation of acquired immunodeficiency syndrome. Toremifene is known to upregulate transforming growth factor beta-1 (TGF-beta1), which is a growth-inhibitory factor for KS. We investigated the in vitro effect of toremifene on KS cells. MTT assay was used to measure the growth of four KS cell lines and a human umbilical vein endothelial (HUVE) cell line after incubation with toremifene. Reverse transcription polymerase chain reaction and ELISA were used to measure the level of TGF-beta1. The IC(50) for the KS cells ranged from 2.2 to 3.2 microM, and 80% of the growth inhibition occurred within 24 h. Toremifene enhanced TGF-beta1 mRNA expression, and the level of TGF-beta1 increased from 103 to 473 pg/ml after 48 h of incubation. Toremifene had no effect on the growth of HUVE cells. Toremifene has a specific antiproliferative effect on KS cells. The stimulation of TGF-beta1 production may play a role in the antiproliferative process. Copyright 2002 S. Karger AG, Basel

  20. Thalamic abnormalities are a cardinal feature of alcohol-related brain dysfunction.

    PubMed

    Pitel, Anne Lise; Segobin, Shailendra H; Ritz, Ludivine; Eustache, Francis; Beaunieux, Hélène

    2015-07-01

    Two brain networks are particularly affected by the harmful effect of chronic and excessive alcohol consumption: the circuit of Papez and the frontocerebellar circuit, in both of which the thalamus plays a key role. Shrinkage of the thalamus is more severe in alcoholics with Korsakoff's syndrome (KS) than in those without neurological complication (AL). In accordance with the gradient effect of thalamic abnormalities between AL and KS, the pattern of brain dysfunction in the Papez's circuit results in anterograde amnesia in KS and only mild-to-moderate episodic memory disorders in AL. On the opposite, dysfunction of the frontocerebellar circuit results in a similar pattern of working memory and executive deficits in the AL and KS. Several hypotheses, mutually compatible, can be drawn to explain that the severe thalamic shrinkage observed in KS has different consequences in the neuropsychological profile associated with the two brain networks. Copyright © 2014. Published by Elsevier Ltd.

  1. A Public Ks -selected Catalog in the COSMOS/ULTRAVISTA Field: Photometry, Photometric Redshifts, and Stellar Population Parameters

    NASA Astrophysics Data System (ADS)

    Muzzin, Adam; Marchesini, Danilo; Stefanon, Mauro; Franx, Marijn; Milvang-Jensen, Bo; Dunlop, James S.; Fynbo, J. P. U.; Brammer, Gabriel; Labbé, Ivo; van Dokkum, Pieter

    2013-05-01

    We present a catalog covering 1.62 deg2 of the COSMOS/UltraVISTA field with point-spread function (PSF) matched photometry in 30 photometric bands. The catalog covers the wavelength range 0.15-24 μm including the available GALEX, Subaru, Canada-France-Hawaii Telescope, VISTA, and Spitzer data. Catalog sources have been selected from the DR1 UltraVISTA Ks band imaging that reaches a depth of K s, tot = 23.4 AB (90% completeness). The PSF-matched catalog is generated using position-dependent PSFs ensuring accurate colors across the entire field. Also included is a catalog of photometric redshifts (z phot) for all galaxies computed with the EAZY code. Comparison with spectroscopy from the zCOSMOS 10k bright sample shows that up to z ~ 1.5 the z phot are accurate to Δz/(1 + z) = 0.013, with a catastrophic outlier fraction of only 1.6%. The z phot also show good agreement with the z phot from the NEWFIRM Medium Band Survey out to z ~ 3. A catalog of stellar masses and stellar population parameters for galaxies determined using the FAST spectral energy distribution fitting code is provided for all galaxies. Also included are rest-frame U - V and V - J colors, L 2800 and L IR. The UVJ color-color diagram confirms that the galaxy bi-modality is well-established out to z ~ 2. Star-forming galaxies also obey a star-forming "main sequence" out to z ~ 2.5, and this sequence evolves in a manner consistent with previous measurements. The COSMOS/UltraVISTA Ks -selected catalog covers a unique parameter space in both depth, area, and multi-wavelength coverage and promises to be a useful tool for studying the growth of the galaxy population out to z ~ 3-4. .

  2. The steroid response to human chorionic gonadotropin (hCG) stimulation in men with Klinefelter syndrome does not change using immunoassay or mass spectrometry.

    PubMed

    Roli, L; Santi, D; Belli, S; Tagliavini, S; Cavalieri, S; De Santis, M C; Baraldi, E; Fanelli, F; Mezzullo, M; Granata, A R; Pagotto, U; Pasquali, R; Rochira, V; Carani, C; Simoni, M; Trenti, T

    2017-08-01

    Liquid-chromatography tandem mass-spectrometry (LC-MS/MS) was developed in parallel to Immunoassays (IAs) and today is proposed as the "gold standard" for steroid assays. Leydig cells of men with Klinefelter syndrome (KS) are able to respond to human chorionic gonadotropin (hCG) stimulation, even if testosterone (T) production was impaired. The aim was to evaluate how results obtained by IAs and LC-MS/MS can differently impact on the outcome of a clinical research on gonadal steroidogenesis after hCG stimulation. A longitudinal, prospective, case-control clinical trial. (clinicaltrial.gov NCT02788136) was carried out, enrolling KS men and healthy age-matched controls, stimulated by hCG administration. Serum steroids were evaluated at baseline and for 5 days after intramuscular injection of 5000 IU hCG using both IAs and LC-MS/MS. 13 KS patients (36 ± 9 years) not receiving T replacement therapy and 14 controls (32 ± 8 years) were enrolled. T, progesterone, cortisol, 17-hydroxy-progesterone (17OHP) and androstenedione, were significantly higher using IAs than LC-MS/MS. IAs and LC-MS/MS showed direct correlation for all five steroids, although the constant overestimation detected by IAs. Either methodology found the same 17OHP and T increasing profile after hCG stimulation, with equal areas under the curves (AUCs). Although a linearity between IA and LC-MS/MS is demonstrated, LC-MS/MS is more sensitive and accurate, whereas IA shows a constant overestimation of sex steroid levels. This result suggests the need of reference intervals built on the specific assay. This fundamental difference between these two methodologies opens a deep reconsideration of what is needed to improve the accuracy of steroid hormone assays.

  3. Benefits of Continuing Professional Development (CPD) Programmes in Music for KS2 (Primary) Teachers through the Example of the London Symphony Orchestra (LSO) on Track Programme

    ERIC Educational Resources Information Center

    Varvarigou, Maria; Creech, Andrea; Hallam, Susan

    2012-01-01

    Between September 2008 and August 2010 24 KS2 classroom teachers were involved in a two-year programme of continuing professional development (CPD), delivered by the LSO in partnership with Local Authority Music Services. The teachers indicated that they embarked on the CPD programme looking forward to opportunities to share good practice, gain…

  4. NEAR-INFRARED THERMAL EMISSION FROM TrES-3b: A Ks-BAND DETECTION AND AN H-BAND UPPER LIMIT ON THE DEPTH OF THE SECONDARY ECLIPSE

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Croll, Bryce; Jayawardhana, Ray; Fortney, Jonathan J.

    2010-08-01

    We present H- and Ks-band photometry bracketing the secondary eclipse of the hot Jupiter TrES-3b using the Wide-field Infrared Camera on the Canada-France-Hawaii Telescope. We detect the secondary eclipse of TrES-3b with a depth of 0.133{sup +0.018}{sub -0.016}% in the Ks band (8{sigma})-a result that is in sharp contrast to the eclipse depth reported by de Mooij and Snellen. We do not detect its thermal emission in the H band, but place a 3{sigma} limit of 0.051% on the depth of the secondary eclipse in this band. A secondary eclipse of this depth in Ks requires very efficient day-to-nightside redistributionmore » of heat and nearly isotropic reradiation, a conclusion that is in agreement with longer wavelength, mid-infrared Spitzer observations. Our 3{sigma} upper limit on the depth of our H-band secondary eclipse also argues for very efficient redistribution of heat and suggests that the atmospheric layer probed by these observations may be well homogenized. However, our H-band upper limit is so constraining that it suggests the possibility of a temperature inversion at depth, or an absorbing molecule, such as methane, that further depresses the emitted flux at this wavelength. The combination of our near-infrared measurements and those obtained with Spitzer suggests that TrES-3b displays a near-isothermal dayside atmospheric temperature structure, whose spectrum is well approximated by a blackbody. We emphasize that our strict H-band limit is in stark disagreement with the best-fit atmospheric model that results from longer wavelength observations only, thus highlighting the importance of near-infrared observations at multiple wavelengths, in addition to those returned by Spitzer in the mid-infrared, to facilitate a comprehensive understanding of the energy budgets of transiting exoplanets.« less

  5. Measurement of D0-D0 mixing parameters in D0 --> Ks pi+ pi- decays.

    PubMed

    Zhang, L M; Zhang, Z P; Adachi, I; Aihara, H; Aulchenko, V; Aushev, T; Bakich, A M; Balagura, V; Barberio, E; Bay, A; Belous, K; Bitenc, U; Bondar, A; Bozek, A; Bracko, M; Brodzicka, J; Browder, T E; Chang, P; Chao, Y; Chen, A; Chen, K-F; Chen, W T; Cheon, B G; Chiang, C-C; Cho, I-S; Choi, Y; Choi, Y K; Dalseno, J; Danilov, M; Dash, M; Drutskoy, A; Eidelman, S; Epifanov, D; Fratina, S; Gabyshev, N; Gokhroo, G; Golob, B; Ha, H; Haba, J; Hara, T; Hastings, N C; Hayasaka, K; Hayashii, H; Hazumi, M; Heffernan, D; Hokuue, T; Hoshi, Y; Hou, W-S; Hsiung, Y B; Hyun, H J; Iijima, T; Ikado, K; Inami, K; Ishikawa, A; Ishino, H; Itoh, R; Iwasaki, M; Iwasaki, Y; Joshi, N J; Kah, D H; Kaji, H; Kajiwara, S; Kang, J H; Kawai, H; Kawasaki, T; Kichimi, H; Kim, H J; Kim, H O; Kim, S K; Kim, Y J; Kinoshita, K; Korpar, S; Krizan, P; Krokovny, P; Kumar, R; Kuo, C C; Kuzmin, A; Kwon, Y-J; Lee, J S; Lee, M J; Lee, S E; Lesiak, T; Li, J; Limosani, A; Lin, S-W; Liu, Y; Liventsev, D; Matsumoto, T; Matyja, A; McOnie, S; Medvedeva, T; Mitaroff, W; Miyake, H; Miyata, H; Miyazaki, Y; Mizuk, R; Nagasaka, Y; Nakamura, I; Nakano, E; Nakao, M; Natkaniec, Z; Nishida, S; Nitoh, O; Ogawa, S; Ohshima, T; Okuno, S; Olsen, S L; Onuki, Y; Ostrowicz, W; Ozaki, H; Pakhlov, P; Pakhlova, G; Park, C W; Park, H; Peak, L S; Pestotnik, R; Piilonen, L E; Poluektov, A; Sahoo, H; Sakai, Y; Schneider, O; Schümann, J; Schwanda, C; Schwartz, A J; Seidl, R; Senyo, K; Sevior, M E; Shapkin, M; Shibuya, H; Shinomiya, S; Shiu, J-G; Shwartz, B; Singh, J B; Sokolov, A; Somov, A; Soni, N; Stanic, S; Staric, M; Stoeck, H; Sumisawa, K; Sumiyoshi, T; Suzuki, S; Tajima, O; Takasaki, F; Tamai, K; Tamura, N; Tanaka, M; Taylor, G N; Teramoto, Y; Tian, X C; Tikhomirov, I; Tsuboyama, T; Uehara, S; Ueno, K; Uglov, T; Unno, Y; Uno, S; Urquijo, P; Usov, Y; Varner, G; Vervink, K; Villa, S; Vinokurova, A; Wang, C H; Wang, M-Z; Wang, P; Watanabe, Y; Won, E; Yabsley, B D; Yamaguchi, A; Yamashita, Y; Yamauchi, M; Yuan, C Z; Zhang, C C; Zhilich, V; Zupanc, A

    2007-09-28

    We report a measurement of D0-D(0) mixing parameters in D(0) --> K(s)(0) pi(+) pi(-) decays using a time-dependent Dalitz-plot analysis. We first assume CP conservation and subsequently allow for CP violation. The results are based on 540 fb(-1) of data accumulated with the Belle detector at the KEKB e(+)e(-) collider. Assuming negligible CP violation, we measure the mixing parameters x = (0.80 +/- 0.29(-0.07-0.14)(+0.09+0.10))% and y = (0.33+/-0.24(-0.12-0.08)(+0.08+0.06))%, where the errors are statistical, experimental systematic, and systematic due to the Dalitz decay model, respectively. Allowing for CP violation, we obtain the CP-violating parameters |q / p| = 0.86(-0.29-0.03)(+0.30+0.06) +/- 0.08 and arg(q/p) = (-14(-18-3-4)(+16+5+2)) degrees .

  6. Presence of spermatogonia in 47,XXY men with no spermatozoa recovered after testicular sperm extraction.

    PubMed

    Van Saen, Dorien; Tournaye, Herman; Goossens, Ellen

    2012-02-01

    To evaluate the presence of spermatogonia in men diagnosed with Klinefelter syndrome (KS), in whom no testicular spermatozoa were recovered by testicular sperm extraction. Retrospective case series. University hospital. Testicular samples from 22 nonmosaic 47,XXY men, aged 24-43 years, with no spermatozoa at multiple biopsies. Paraffin-embedded testicular tissue was sectioned and stained with hematoxylin-eosin, and immunostainings were performed for both MAGE-A4 and vimentin. The presence of spermatogonia. Massive fibrosis and hyalinization were observed in all men with KS. Spermatogonia were observed in 4 of 22 men with KS, with differentiation up to the spermatocyte level in 2 of them. A few men with KS, having no spermatozoa after testicular sperm extraction, still had few spermatogonia. These patients may eventually benefit from in vitro maturation using spermatogonial stem cells. The adult KS population can thus be divided into three subgroups: one subgroup showing focal spermatogenesis, a second having spermatogonia, and a third group in which no germ cells can be recovered. Further research is necessary to unravel the mechanism leading to these different patterns in patients with KS. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Case Report: Pulmonary Kaposi Sarcoma in a non-HIV patient.

    PubMed

    Kodra, Arber; Walczyszyn, Maciej; Grossman, Craig; Zapata, Daniel; Rambhatla, Tarak; Mina, Bushra

    2015-01-01

    Kaposi Sarcoma (KS) is an angioproliferative tumor associated with human herpes virus 8 (HHV-8).  Often known as one of the acquired immunodeficiency syndrome (AIDS)-defining skin diseases, pulmonary involvement in KS has only been discussed in a handful of case reports, rarely in a non-HIV patient. Herein we report the case of a 77 year-old- male who presented with a 6-week history of progressive dyspnea on exertion accompanied by productive cough of yellow sputum and intermittent hemoptysis. His past medical history was significant for Non-Hodgkin's Follicular B-Cell Lymphoma (NHL). Patient also had biopsy-confirmed cutaneous KS. His physical exam was notable for a 2cm firm, non-tender, mobile right submandibular lymph node.  Lungs were clear to auscultation. He had multiple violet non-tender skin lesions localized to the lower extremities. CT scan of the chest showed numerous nodular opacities and small pleural effusions in both lungs. A thoracenthesis was performed, showing sero-sanguineous exudative effusions. Histopathology failed to demonstrate malignant cells or lymphoma. A subsequent bronchoscopy revealed diffusely hyperemic, swollen mucosa of the lower airways with mucopurulent secretions. Bronchoalveolar lavage PCR for HHV-8 showed 5800 DNA copies/mL.  It was believed that his pulmonary symptoms were likely due to disseminated KS.  This case illustrates the potential for significant lung injury from KS. It also demonstrates the use of PCR for HHV-8 to diagnose KS in a bronchoalveolar lavage sample in a case when bronchoscopic biopsy was not safe. Furthermore, this case is unique in that the patient did not match the typical KS subgroups as HIV infection and other immune disorders were ruled out. Recognition of this syndrome is critical to the institution of appropriate therapy. As such, this case should be of interest to a broad readership across internal medicine including the specialties of Pulmonology and Critical Care.

  8. AmeriFlux US-KS1 Kennedy Space Center (slash pine)

    DOE Data Explorer

    Drake, Bert [Smithsonian Environmental Research Center; Hinkle, Ross [University of Central Florida

    2016-01-01

    This is the AmeriFlux version of the carbon flux data for the site US-KS1 Kennedy Space Center (slash pine). Site Description - The Kennedy Space Center Slash Pine Flatwoods site is located in the Merritt Island National Wildlife Refuge at the Kennedy Space Center (KSC) on the east coast of central Florida. Occupying 310 ha of local forest, the slash pine flatwoods ecosystem is managed as an uneven-aged stand with a sparsely populated overstory and a dense oak-dominated understory. Disturbances tend to occur on a 7 to 10 year cycle, mostly related to fire or hurricane activity. Prescribed fires have been conducted since 1969 to control understory fuel. The most recent burn was conducted in February of 1995. Following the burn, the stand was allowed to naturally regenerate into a open canopy of slash pines, less than 15% of canopy coverage ( on the order of 15-30 trees per ha), with a understory mostly composed of saw palmetto and scrub oak. There was a seasonally wet swale to the southeast that was on the margin of the flux tower footprint. A severe drought gripped most of Florida beginning in 1998 until the later half of 2001 resulting in four years of relatively low annual precipitation totals. Exceptionally high annual rainfall amounts in 2004 were the result of a pair of hurricanes that hit the area in August and September of 2004. Wind directions for the site are as follows: W and NW in the winter, afternoon E sea breeze in the summer.

  9. Chemosensory Dysfunction in Alcohol-Related Disorders: A Joint Exploration of Olfaction and Taste.

    PubMed

    Brion, Mélanie; de Timary, Philippe; Vander Stappen, Caroline; Guettat, Lamia; Lecomte, Benoît; Rombaux, Philippe; Maurage, Pierre

    2015-11-01

    Chemosensory (olfaction-taste) dysfunctions are considered as reliable biomarkers in many neurological and psychiatric states. However, experimental measures of chemosensory abilities are lacking in alcohol-dependence (AD) and Korsakoff Syndrome (KS, a neurological complication of AD), despite the role played by alcohol-related odors and taste in the emergence and maintenance of AD. This study thus investigated chemosensory impairments in AD and KS. Olfactory-gustatory measures were taken among 20 KS, 20 AD, and 20 control participants. Olfaction (odor detection-discrimination-identification) was assessed using the "Sniffin Sticks" battery and taste was measured using the "Taste Strips" task. Impairments were found for high-level olfaction in AD (odor discrimination) and KS (odor discrimination-identification), even after controlling for psychopathological comorbidities. Gustatory deficits were also observed in both groups, indexing a global deficit for chemosensory perception. Finally, the gradient of impairment between the successive disease stages for odor identification suggests that the hypothesis of a continuum between AD and KS regarding cognitive deficits can be generalized to chemosensory perception. AD and KS are thus characterized by deficits in chemosensory abilities, which could constitute a marker of the AD-KS transition. In view of its deleterious influence on everyday life, chemosensory dysfunction should also be taken into account in clinical settings. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  10. HGF/c-MET Pathway in AIDS-Related Lymphoma

    DTIC Science & Technology

    2016-09-01

    including asthma, atopic dermatitis, inflammatory bowel disease, eosinophilic esophagitis and acute lymphoblastic leukemia [15], but it has never been...2000; 356:2160. 9. Gorsky M, Epstein JB. A case series of acquired immunodeficiency syndrome patients with initial neoplastic diagnoses of intraoral...Acquired Immunodeficiency Syndrome (AIDS) pandemic counties of Africa, KS has become one of the commonest cancers affecting men and children with

  11. What Are Common Symptoms of Klinefelter Syndrome?

    MedlinePlus

    ... Learning Symptoms Most males with KS have normal intelligence quotients (IQs) 7 , 8 and successfully complete education at all levels. (IQ is a frequently used intelligence measure, but does not include emotional, creative, or ...

  12. Episodic and working memory deficits in alcoholic Korsakoff patients: the continuity theory revisited.

    PubMed

    Pitel, Anne Lise; Beaunieux, Hélène; Witkowski, Thomas; Vabret, François; de la Sayette, Vincent; Viader, Fausto; Desgranges, Béatrice; Eustache, Francis

    2008-07-01

    The exact nature of episodic and working memory impairments in alcoholic Korsakoff patients (KS) remains unclear, as does the specificity of these neuropsychological deficits compared with those of non-Korsakoff alcoholics (AL). The goals of the present study were therefore to (1) specify the nature of episodic and working memory impairments in KS, (2) determine the specificity of the KS neuropsychological profile compared with the AL profile, and (3) observe the distribution of individual performances within the 2 patient groups. We investigated episodic memory (encoding and retrieval abilities, contextual memory and state of consciousness associated with memories), the slave systems of working memory (phonological loop, visuospatial sketchpad and episodic buffer) and executive functions (inhibition, flexibility, updating and integration abilities) in 14 strictly selected KS, 40 AL and 55 control subjects (CS). Compared with CS, KS displayed impairments of episodic memory encoding and retrieval, contextual memory, recollection, the slave systems of working memory and executive functions. Although episodic memory was more severely impaired in KS than in AL, the single specificity of the KS profile was a disproportionately large encoding deficit. Apart from organizational and updating abilities, the slave systems of working memory and inhibition, flexibility and integration abilities were impaired to the same extent in both alcoholic groups. However, some KS were unable to complete the most difficult executive tasks. There was only a partial overlap of individual performances by KS and AL for episodic memory and a total mixture of the 2 groups for working memory. Korsakoff's syndrome encompasses impairments of the different episodic and working memory components. AL and KS displayed similar profiles of episodic and working memory deficits, in accordance with neuroimaging investigations showing similar patterns of brain damage in both alcoholic groups.

  13. Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions.

    PubMed

    Trabado, Séverine; Lamothe, Sophie; Maione, Luigi; Bouvattier, Claire; Sarfati, Julie; Brailly-Tabard, Sylvie; Young, Jacques

    2014-05-01

    Men with Kallmann syndrome (KS) and those with congenital isolated hypogonadotropic hypogonadism with normal olfaction share a chronic, usually profound deficit, in FSH and LH, the two pituitary gonadotropins. Many studies indicate that this gonadotropin deficiency is already present during fetal life, thus explaining the micropenis, cryptorchidism and marked testicular hypotrophy already present at birth. In addition, neonatal activation of gonadotropin secretion is compromised in boys with severe CHH/Kallmann, preventing the first phase of postnatal testicular activation. Finally, CHH is characterized by the persistence, in the vast majority of cases, of gonadotropin deficiency at the time of puberty and during adulthood. This prevents the normal pubertal testicular reactivation required for physiological sex steroid and testicular peptide production, and for spermatogenesis. CHH/KS thus represents a pathological paradigm that can help to unravel, in vivo, the role of each gonadotropin in human testicular exocrine and endocrine functions at different stages of development. Recombinant gonadotropins with pure LH or FSH activity have been used to stimulate Leydig's cells and Sertoli's cells, respectively, and thereby to clarify their paracrine interaction in vivo. The effects of these pharmacological probes can be assessed by measuring the changes they provoke in circulating testicular hormone concentrations. This review discusses the impact of chronic gonadotropin deficiency on the endocrine functions of the interstitial compartment, which contains testosterone-, estradiol- and INSL3-secreting Leydig's cells. It also examines the regulation of inhibin B and anti-Mullerian hormone (AMH) secretion in the seminiferous tubules, and the insights provided by studies of human testicular stimulation with recombinant gonadotropins, used either individually or in combination. Copyright © 2014. Published by Elsevier Masson SAS.

  14. PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.

    PubMed

    Moya-Plana, Antoine; Villanueva, Carine; Laccourreye, Ollivier; Bonfils, Pierre; de Roux, Nicolas

    2013-01-01

    Isolated congenital anosmia (ICA) is a rare phenotype defined as absent recall of any olfactory sensations since birth and the absence of any disease known to cause anosmia. Although most cases of ICA are sporadic, reports of familial cases suggest a genetic cause. ICA due to olfactory bulb agenesis and associated to hypogonadotropic hypogonadism defines Kallmann syndrome (KS), in which several gene defects have been described. In KS families, the phenotype may be restricted to ICA. We therefore hypothesized that mutations in KS genes cause ICA in patients, even in the absence of family history of reproduction disorders. In 25 patients with ICA and olfactory bulb agenesis, a detailed phenotype analysis was conducted and the coding sequences of KAL1, FGFR1, FGF8, PROKR2, and PROK2 were sequenced. Three PROKR2 mutations previously described in KS and one new PROK2 mutation were found. Investigation of the families showed incomplete penetrance of these mutations. This study is the first to report genetic causes of ICA and indicates that KS genes must be screened in patients with ICA. It also confirms the considerable complexity of GNRH neuron development in humans.

  15. Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.

    PubMed

    Akkuş, Gamze; Kotan, Leman Damla; Durmaz, Erdem; Mengen, Eda; Turan, İhsan; Ulubay, Ayça; Gürbüz, Fatih; Yüksel, Bilgin; Tetiker, Tamer; Topaloğlu, A Kemal

    2017-06-01

    The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. Using a candidate gene approach, we screened 52 IHH/KS patients. We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype. These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.

  16. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

    PubMed

    Bonomi, Marco; Vezzoli, Valeria; Krausz, Csilla; Guizzardi, Fabiana; Vezzani, Silvia; Simoni, Manuela; Bassi, Ivan; Duminuco, Paolo; Di Iorgi, Natascia; Giavoli, Claudia; Pizzocaro, Alessandro; Russo, Gianni; Moro, Mirella; Fatti, Letizia; Ferlin, Alberto; Mazzanti, Laura; Zatelli, Maria Chiara; Cannavò, Salvo; Isidori, Andrea M; Pincelli, Angela Ida; Prodam, Flavia; Mancini, Antonio; Limone, Paolo; Tanda, Maria Laura; Gaudino, Rossella; Salerno, Mariacarolina; Francesca, Pregnolato; Maghnie, Mohamad; Maggi, Mario; Persani, Luca

    2018-01-01

    Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present although information on their frequency are scanty, particularly according to the age of presentation. Observational cohort study carried out between January 2008 and June 2016 within a national network of academic or general hospitals. We performed a detailed phenotyping of 503 IHH patients with: (1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; (2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects. Cohort was divided on IHH onset (PPO, pre-pubertal onset or AO, adult onset) and olfactory function: PPO-nIHH ( n  = 275), KS ( n  = 184), AO-nIHH ( n  = 36) and AO-doIHH (AO-IHH with defective olfaction, n  = 8). 90% of patients were classified as PPO and 10% as AO. Typical midline and olfactory defects, bimanual synkinesis and familiarity for pubertal delay were also found among the AO-IHH. Mean age at diagnosis was significantly earlier and more frequently associated with congenital hypogonadism stigmata in patients with Kallmann's syndrome (KS). Synkinesis, renal and male genital tract anomalies were enriched in KS. Overweight/obesity are significantly associated with AO-IHH rather than PPO-IHH. Patients with KS are more prone to develop a severe and complex phenotype than nIHH. The presence of typical extra-gonadal defects and familiarity for PPO-IHH among the AO-IHH patients indicates a common predisposition with variable clinical expression. Overall, these findings improve the understanding of IHH and may have a positive impact on the management of patients and their families. © 2018 European Society of Endocrinology.

  17. A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

    PubMed Central

    Karimi, Hamideh; Sabbaghian, Marjan; Haratian, Kaveh; Vaziri Nasab, Hamed; Farrahi, Faramarz; Moradi, Shabnam Zari; Tavakolzadeh, Tayebeh; Beheshti, Zahra; Gourabi, Hamid; Meybodi, Anahita Mohseni

    2014-01-01

    Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men. Most of these patients show the 47,XXY karyotype, whereas approximately 15% of them are mosaics with variable phenotype. A 39-year-old male investigated for primary infertility, was clinically normal with small firm testes and elevated levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed on semen analysis. Testicular histopathology revealed no spermatogenesis and absence of germ cells. Karyotype from whole blood culture showed cells with 47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY (83.67%). This was confirmed by fluorescence in situ hybridization (FISH). Also the presence of a small population of cells with the 48,XXXY and 45,X karyotypes was detected by FISH. This case illustrates the utility of FISH as an adjunct to conventional cytogenetics in assess the chromosome copy number in each cell line of a mosaic. PMID:25083188

  18. A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH.

    PubMed

    Karimi, Hamideh; Sabbaghian, Marjan; Haratian, Kaveh; Vaziri Nasab, Hamed; Farrahi, Faramarz; Moradi, Shabnam Zari; Tavakolzadeh, Tayebeh; Beheshti, Zahra; Gourabi, Hamid; Meybodi, Anahita Mohseni

    2014-07-01

    Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men. Most of these patients show the 47,XXY karyotype, whereas approximately 15% of them are mosaics with variable phenotype. A 39-year-old male investigated for primary infertility, was clinically normal with small firm testes and elevated levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed on semen analysis. Testicular histopathology revealed no spermatogenesis and absence of germ cells. Karyotype from whole blood culture showed cells with 47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY (83.67%). This was confirmed by fluorescence in situ hybridization (FISH). Also the presence of a small population of cells with the 48,XXXY and 45,X karyotypes was detected by FISH. This case illustrates the utility of FISH as an adjunct to conventional cytogenetics in assess the chromosome copy number in each cell line of a mosaic.

  19. Evidence of the presence of a Be circumstelar disk in the Be/X-ray binaries KS 1947+ 300 and Cep X-4

    NASA Astrophysics Data System (ADS)

    Ozbey-Arabaci, M.; Camero-Arranz, A.; Fabregat, J.; Ozcan, H. Bilal; Peris, V.

    2014-06-01

    We report on photometric and spectroscopic optical observations of the Be/X-ray binaries KS 1947+300 and Cep X-4, obtained with the TUG Faint Object Spectrograph and Camera (TFOSC) mounted on the focal plane of the 1.5-m Russian-Turkish Telescope (RTT150) at T & Uuml;B & #304TAK National Observatory (Antalya, Turkey) between 2014 June 18-20 (MJD 56826.933-56828.067), and with the spectrograph located at the 51-cm telescope of the Observatorio de Aras de los Olmos of the University of Valencia on 2014 June 3 (MJD 56811.097). ...

  20. Precise weak lensing constraints from deep high-resolution Ks images: VLT/HAWK-I analysis of the super-massive galaxy cluster RCS2 J 232727.7-020437 at z = 0.70

    NASA Astrophysics Data System (ADS)

    Schrabback, Tim; Schirmer, Mischa; van der Burg, Remco F. J.; Hoekstra, Henk; Buddendiek, Axel; Applegate, Douglas; Bradač, Maruša; Eifler, Tim; Erben, Thomas; Gladders, Michael D.; Hernández-Martín, Beatriz; Hildebrandt, Hendrik; Hoag, Austin; Klaes, Dominik; von der Linden, Anja; Marchesini, Danilo; Muzzin, Adam; Sharon, Keren; Stefanon, Mauro

    2018-03-01

    We demonstrate that deep good-seeing VLT/HAWK-I Ks images complemented with g + z-band photometry can yield a sensitivity for weak lensing studies of massive galaxy clusters at redshifts 0.7 ≲ z ≲ 1.1, which is almost identical to the sensitivity of HST/ACS mosaics of single-orbit depth. Key reasons for this good performance are the excellent image quality frequently achievable for Ks imaging from the ground, a highly effective photometric selection of background galaxies, and a galaxy ellipticity dispersion that is noticeably lower than for optically observed high-redshift galaxy samples. Incorporating results from the 3D-HST and UltraVISTA surveys we also obtained a more accurate calibration of the source redshift distribution than previously achieved for similar optical weak lensing data sets. Here we studied the extremely massive galaxy cluster RCS2 J232727.7-020437 (z = 0.699), combining deep VLT/HAWK-I Ks images (point spread function with a 0.''35 full width at half maximum) with LBT/LBC photometry. The resulting weak lensing mass reconstruction suggests that the cluster consists of a single overdensity, which is detected with a peak significance of 10.1σ. We constrained the cluster mass to M200c/(1015 M⊙) = 2.06-0.26+0.28(stat.) ± 0.12(sys.) assuming a spherical Navarro, Frenk & White model and simulation-based priors on the concentration, making it one of the most massive galaxy clusters known in the z ≳ 0.7 Universe. We also cross-checked the HAWK-I measurements through an analysis of overlapping HST/ACS images, yielding fully consistent estimates of the lensing signal. Based on observations conducted with the ESO Very Large Telescope, the Large Binocular Telescope, and the NASA/ESA Hubble Space Telescope, as detailed in the acknowledgements.

  1. Understanding Bartter syndrome and Gitelman syndrome.

    PubMed

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  2. The Zambia Children's KS-HHV8 Study: Rationale, Study Design, and Study Methods

    PubMed Central

    Minhas, Veenu; Crabtree, Kay L.; Chao, Ann; Wojcicki, Janet M.; Sifuniso, Adrian M.; Nkonde, Catherine; Kankasa, Chipepo; Mitchell, Charles D.; Wood, Charles

    2011-01-01

    The epidemic of human immunodeficiency virus in Zambia has led to a dramatic rise in the incidence of human herpesvirus-8 (HHV-8)–associated Kaposi's sarcoma in both adults and children. However, there is a paucity of knowledge about the routes of HHV-8 transmission to young children. The Zambia Children's KS-HHV8 Study, a large, prospective cohort study in Lusaka, Zambia, was launched in 2004 to investigate the role of household members as a source of HHV-8 infection in young children and social behaviors that may modify the risk of HHV-8 acquisition. This cohort is distinct from other epidemiologic studies designed to investigate HHV-8 incidence and transmission because it recruited and followed complete households in the urban central African context. Between July 2004 and March 2007, 1,600 households were screened; 368 households comprising 464 children and 1,335 caregivers and household members were enrolled. Follow-up of this population continued for 48 months postrecruitment, affording a unique opportunity to study horizontal transmission of HHV-8 and understand the routes and sources of transmission to young children in Zambia. The authors describe the study rationale, design, execution, and characteristics of this cohort, which provides critical data on the epidemiology and transmission of HHV-8 to young children in Zambia. PMID:21447476

  3. Near-infrared Thermal Emission from TrES-3b: A Ks-band Detection and an H-band Upper Limit on the Depth of the Secondary Eclipse

    NASA Astrophysics Data System (ADS)

    Croll, Bryce; Jayawardhana, Ray; Fortney, Jonathan J.; Lafrenière, David; Albert, Loic

    2010-08-01

    We present H- and Ks-band photometry bracketing the secondary eclipse of the hot Jupiter TrES-3b using the Wide-field Infrared Camera on the Canada-France-Hawaii Telescope. We detect the secondary eclipse of TrES-3b with a depth of 0.133+0.018 -0.016% in the Ks band (8σ)—a result that is in sharp contrast to the eclipse depth reported by de Mooij & Snellen. We do not detect its thermal emission in the H band, but place a 3σ limit of 0.051% on the depth of the secondary eclipse in this band. A secondary eclipse of this depth in Ks requires very efficient day-to-nightside redistribution of heat and nearly isotropic reradiation, a conclusion that is in agreement with longer wavelength, mid-infrared Spitzer observations. Our 3σ upper limit on the depth of our H-band secondary eclipse also argues for very efficient redistribution of heat and suggests that the atmospheric layer probed by these observations may be well homogenized. However, our H-band upper limit is so constraining that it suggests the possibility of a temperature inversion at depth, or an absorbing molecule, such as methane, that further depresses the emitted flux at this wavelength. The combination of our near-infrared measurements and those obtained with Spitzer suggests that TrES-3b displays a near-isothermal dayside atmospheric temperature structure, whose spectrum is well approximated by a blackbody. We emphasize that our strict H-band limit is in stark disagreement with the best-fit atmospheric model that results from longer wavelength observations only, thus highlighting the importance of near-infrared observations at multiple wavelengths, in addition to those returned by Spitzer in the mid-infrared, to facilitate a comprehensive understanding of the energy budgets of transiting exoplanets. Based on observations obtained with WIRCam, a joint project of CFHT, Taiwan, Korea, Canada, France, at the Canada-France-Hawaii Telescope (CFHT) which is operated by the National Research Council (NRC) of

  4. Beam-Energy Dependence of Directed Flow of Λ , Λ ¯, K±, Ks0, and ϕ in Au +Au Collisions

    NASA Astrophysics Data System (ADS)

    Adamczyk, L.; Adams, J. R.; Adkins, J. K.; Agakishiev, G.; Aggarwal, M. M.; Ahammed, Z.; Ajitanand, N. N.; Alekseev, I.; Anderson, D. M.; Aoyama, R.; Aparin, A.; Arkhipkin, D.; Aschenauer, E. C.; Ashraf, M. U.; Attri, A.; Averichev, G. S.; Bai, X.; Bairathi, V.; Barish, K.; Behera, A.; Bellwied, R.; Bhasin, A.; Bhati, A. K.; Bhattarai, P.; Bielcik, J.; Bielcikova, J.; Bland, L. C.; Bordyuzhin, I. G.; Bouchet, J.; Brandenburg, J. D.; Brandin, A. V.; Brown, D.; Bunzarov, I.; Butterworth, J.; Caines, H.; Calderón de la Barca Sánchez, M.; Campbell, J. M.; Cebra, D.; Chakaberia, I.; Chaloupka, P.; Chang, Z.; Chankova-Bunzarova, N.; Chatterjee, A.; Chattopadhyay, S.; Chen, X.; Chen, J. H.; Chen, X.; Cheng, J.; Cherney, M.; Christie, W.; Contin, G.; Crawford, H. J.; Das, S.; De Silva, L. C.; Dedovich, T. G.; Deng, J.; Derevschikov, A. A.; Didenko, L.; Dilks, C.; Dong, X.; Drachenberg, J. L.; Draper, J. E.; Dunkelberger, L. E.; Dunlop, J. C.; Efimov, L. G.; Elsey, N.; Engelage, J.; Eppley, G.; Esha, R.; Esumi, S.; Evdokimov, O.; Ewigleben, J.; Eyser, O.; Fatemi, R.; Fazio, S.; Federic, P.; Federicova, P.; Fedorisin, J.; Feng, Z.; Filip, P.; Finch, E.; Fisyak, Y.; Flores, C. E.; Fujita, J.; Fulek, L.; Gagliardi, C. A.; Garand, D.; Geurts, F.; Gibson, A.; Girard, M.; Grosnick, D.; Gunarathne, D. S.; Guo, Y.; Gupta, A.; Gupta, S.; Guryn, W.; Hamad, A. I.; Hamed, A.; Harlenderova, A.; Harris, J. W.; He, L.; Heppelmann, S.; Heppelmann, S.; Hirsch, A.; Horvat, S.; Huang, X.; Huang, B.; Huang, T.; Huang, H. Z.; Humanic, T. J.; Huo, P.; Igo, G.; Jacobs, W. W.; Jentsch, A.; Jia, J.; Jiang, K.; Jowzaee, S.; Judd, E. G.; Kabana, S.; Kalinkin, D.; Kang, K.; Kapukchyan, D.; Kauder, K.; Ke, H. W.; Keane, D.; Kechechyan, A.; Khan, Z.; Kikoła, D. P.; Kim, C.; Kisel, I.; Kisiel, A.; Kochenda, L.; Kocmanek, M.; Kollegger, T.; Kosarzewski, L. K.; Kraishan, A. F.; Krauth, L.; Kravtsov, P.; Krueger, K.; Kulathunga, N.; Kumar, L.; Kvapil, J.; Kwasizur, J. H.; Lacey, R.; Landgraf, J. M.; Landry, K. D.; Lauret, J.; Lebedev, A.; Lednicky, R.; Lee, J. H.; Li, C.; Li, X.; Li, Y.; Li, W.; Lidrych, J.; Lin, T.; Lisa, M. A.; Liu, P.; Liu, H.; Liu, Y.; Liu, F.; Ljubicic, T.; Llope, W. J.; Lomnitz, M.; Longacre, R. S.; Luo, S.; Luo, X.; Ma, Y. G.; Ma, L.; Ma, R.; Ma, G. L.; Magdy, N.; Majka, R.; Mallick, D.; Margetis, S.; Markert, C.; Matis, H. S.; Meehan, K.; Mei, J. C.; Miller, Z. W.; Minaev, N. G.; Mioduszewski, S.; Mishra, D.; Mizuno, S.; Mohanty, B.; Mondal, M. M.; Morozov, D. A.; Mustafa, M. K.; Nasim, Md.; Nayak, T. K.; Nelson, J. M.; Nie, M.; Nigmatkulov, G.; Niida, T.; Nogach, L. V.; Nonaka, T.; Nurushev, S. B.; Odyniec, G.; Ogawa, A.; Oh, K.; Okorokov, V. A.; Olvitt, D.; Page, B. S.; Pak, R.; Pandit, Y.; Panebratsev, Y.; Pawlik, B.; Pei, H.; Perkins, C.; Pile, P.; Pluta, J.; Poniatowska, K.; Porter, J.; Posik, M.; Pruthi, N. K.; Przybycien, M.; Putschke, J.; Qiu, H.; Quintero, A.; Ramachandran, S.; Ray, R. L.; Reed, R.; Rehbein, M. J.; Ritter, H. G.; Roberts, J. B.; Rogachevskiy, O. V.; Romero, J. L.; Roth, J. D.; Ruan, L.; Rusnak, J.; Rusnakova, O.; Sahoo, N. R.; Sahu, P. K.; Salur, S.; Sandweiss, J.; Saur, M.; Schambach, J.; Schmah, A. M.; Schmidke, W. B.; Schmitz, N.; Schweid, B. R.; Seger, J.; Sergeeva, M.; Seto, R.; Seyboth, P.; Shah, N.; Shahaliev, E.; Shanmuganathan, P. V.; Shao, M.; Sharma, A.; Sharma, M. K.; Shen, W. Q.; Shi, S. S.; Shi, Z.; Shou, Q. Y.; Sichtermann, E. P.; Sikora, R.; Simko, M.; Singha, S.; Skoby, M. J.; Smirnov, N.; Smirnov, D.; Solyst, W.; Song, L.; Sorensen, P.; Spinka, H. M.; Srivastava, B.; Stanislaus, T. D. S.; Strikhanov, M.; Stringfellow, B.; Suaide, A. A. P.; Sugiura, T.; Sumbera, M.; Summa, B.; Sun, Y.; Sun, X. M.; Sun, X.; Surrow, B.; Svirida, D. N.; Tang, Z.; Tang, A. H.; Taranenko, A.; Tarnowsky, T.; Tawfik, A.; Thäder, J.; Thomas, J. H.; Timmins, A. R.; Tlusty, D.; Todoroki, T.; Tokarev, M.; Trentalange, S.; Tribble, R. E.; Tribedy, P.; Tripathy, S. K.; Trzeciak, B. A.; Tsai, O. D.; Ullrich, T.; Underwood, D. G.; Upsal, I.; Van Buren, G.; van Nieuwenhuizen, G.; Vasiliev, A. N.; Videbæk, F.; Vokal, S.; Voloshin, S. A.; Vossen, A.; Wang, G.; Wang, Y.; Wang, F.; Wang, Y.; Webb, J. C.; Webb, G.; Wen, L.; Westfall, G. D.; Wieman, H.; Wissink, S. W.; Witt, R.; Wu, Y.; Xiao, Z. G.; Xie, G.; Xie, W.; Xu, J.; Xu, Z.; Xu, Q. H.; Xu, Y. F.; Xu, N.; Yang, S.; Yang, Y.; Yang, C.; Yang, Q.; Ye, Z.; Ye, Z.; Yi, L.; Yip, K.; Yoo, I.-K.; Yu, N.; Zbroszczyk, H.; Zha, W.; Zhang, Z.; Zhang, J. B.; Zhang, J.; Zhang, S.; Zhang, Y.; Zhang, X. P.; Zhang, J.; Zhang, S.; Zhao, J.; Zhong, C.; Zhou, C.; Zhou, L.; Zhu, X.; Zhu, Z.; Zyzak, M.; STAR Collaboration

    2018-02-01

    Rapidity-odd directed-flow measurements at midrapidity are presented for Λ , Λ ¯, K±, Ks0, and ϕ at √{sN N }=7.7 , 11.5, 14.5, 19.6, 27, 39, 62.4, and 200 GeV in Au +Au collisions recorded by the Solenoidal Tracker detector at the Relativistic Heavy Ion Collider. These measurements greatly expand the scope of data available to constrain models with differing prescriptions for the equation of state of quantum chromodynamics. Results show good sensitivity for testing a picture where flow is assumed to be imposed before hadron formation and the observed particles are assumed to form via coalescence of constituent quarks. The pattern of departure from a coalescence-inspired sum rule can be a valuable new tool for probing the collision dynamics.

  5. The influence of sex chromosome aneuploidy on brain asymmetry.

    PubMed

    Rezaie, Roozbeh; Daly, Eileen M; Cutter, William J; Murphy, Declan G M; Robertson, Dene M W; DeLisi, Lynn E; Mackay, Clare E; Barrick, Thomas R; Crow, Timothy J; Roberts, Neil

    2009-01-05

    The cognitive deficits present in individuals with sex chromosome aneuploidies suggest that hemispheric differentiation of function is determined by an X-Y homologous gene [Crow (1993); Lancet 342:594-598]. In particular, females with Turner's syndrome (TS) who have only one X-chromosome exhibit deficits of spatial ability whereas males with Klinefelter's syndrome (KS) who possess a supernumerary X-chromosome are delayed in acquiring words. Since spatial and verbal abilities are generally associated with right and left hemispheric function, such deficits may relate to anomalies of cerebral asymmetry. We therefore applied a novel image analysis technique to investigate the relationship between sex chromosome dosage and structural brain asymmetry. Specifically, we tested Crow's prediction that the magnitude of the brain torque (i.e., a combination of rightward frontal and leftward occipital asymmetry) would, as a function of sex chromosome dosage, be respectively decreased in TS women and increased in KS men, relative to genotypically normal controls. We found that brain torque was not significantly different in TS women and KS men, in comparison to controls. However, TS women exhibited significantly increased leftward brain asymmetry, restricted to the posterior of the brain and focused on the superior temporal and parietal-occipital association cortex, while KS men showed a trend for decreased brain asymmetry throughout the frontal lobes. The findings suggest that the number of sex chromosomes influences the development of brain asymmetry not simply to modify the torque but in a complex pattern along the antero-posterior axis. 2008 Wiley-Liss, Inc.

  6. Component processes of memory in alcoholism: pattern of compromise and neural substrates.

    PubMed

    Pitel, Anne-Lise; Eustache, Francis; Beaunieux, Helene

    2014-01-01

    Initially, alcohol-related memory deficits were considered only through the prism of Korsakoff's syndrome (KS). It is now clear, however, that chronic alcohol consumption results in memory disorders in alcoholics without ostensible neurologic complications, such as Wernicke's encephalopathy and KS. Most of the principal memory components are affected, including working memory, episodic memory, semantic memory, perceptual memory, and procedural memory. The extent of those cognitive impairments depends on several factors, such as age, gender, nutritional status, and psychiatric comorbidity. While memory disorders, especially episodic memory deficits, are largely definitive in patients with KS, recovery of memory abilities has been described with abstinence in uncomplicated alcoholics. Neuropsychologic impairments, and especially memory disorders, must be evaluated at alcohol treatment entry because they could impede patients from benefiting fully from cognitive and behavioral treatment approaches for alcohol dependence. Screening of memory deficits could also enable clinicians to detect, among alcoholics without ostensible neurologic complications, those at risk of developing permanent and debilitating amnesia that features KS. © 2014 Elsevier B.V. All rights reserved.

  7. Sensitive biomarkers of alcoholism's effect on brain macrostructure: similarities and differences between France and the United States

    PubMed Central

    Le Berre, Anne-Pascale; Pitel, Anne-Lise; Chanraud, Sandra; Beaunieux, Hélène; Eustache, Francis; Martinot, Jean-Luc; Reynaud, Michel; Martelli, Catherine; Rohlfing, Torsten; Pfefferbaum, Adolf; Sullivan, Edith V.

    2015-01-01

    Alcohol consumption patterns and recognition of health outcomes related to hazardous drinking vary widely internationally, raising the question whether these national differences are reflected in brain damage observed in alcoholism. This retrospective analysis assessed variability of alcoholism's effects on brain cerebrospinal fluid (CSF) and white matter volumes between France and the United States (U.S.). MRI data from two French sites (Caen and Orsay) and a U.S. laboratory (SRI/Stanford University) were acquired on 1.5T imaging systems in 287 controls, 165 uncomplicated alcoholics (ALC), and 26 alcoholics with Korsakoff's Syndrome (KS). All data were analyzed at the U.S. site using atlas-based parcellation. Results revealed graded CSF volume enlargement from ALC to KS and white matter volume deficits in KS only. In ALC from France but not the U.S., CSF and white matter volumes correlated with lifetime alcohol consumption, alcoholism duration, and length of sobriety. MRI highlighted CSF volume enlargement in both ALC and KS, serving as a basis for an ex vacuo process to explain correlated gray matter shrinkage. By contrast, MRI provided a sensitive in vivo biomarker of white matter volume shrinkage in KS only, suggesting a specific process sensitive to mechanisms contributing to Wernicke's encephalopathy, the precursor of KS. Identified structural brain abnormalities may provide biomarkers underlying alcoholism's heterogeneity in and among nations and suggest a substrate of gray matter tissue shrinkage. Proposed are hypotheses for national differences in interpreting whether the severity of sequelae observe a graded phenomenon or a continuum from uncomplicated alcoholism to alcoholism complicated by KS. PMID:26157376

  8. 77 FR 27240 - Center for Scientific Review; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-09

    ...., as amended. The grant applications and the discussions could disclose confidential trade secrets or... with the grant applications, the disclosure of which would constitute a clearly unwarranted invasion of... applications. Place: Hotel Kabuki, 1625 Post Street, San Francisco, CA 94115. Contact Person: Wallace Ip, Ph.D...

  9. Getting the Most from Working with Higher Education: A Review of Methods Used within a Participatory Design Activity Involving KS3 Special School Pupils and Undergraduate and Post-Graduate Industrial Design Students

    ERIC Educational Resources Information Center

    Torrens, George Edward; Newton, Helen

    2013-01-01

    This paper provides education-based researchers and practitioners with the preferred research and design methods used by Higher Education Institute (HEI) students and Key Stage 3 (KS3) pupils applied within a participatory approach to a design activity. The outcomes were that both pupils and students found informal (unstructured) interview to be…

  10. Orbital theory in terms of KS elements with luni-solar perturbations

    NASA Astrophysics Data System (ADS)

    Sellamuthu, Harishkumar; Sharma, Ram

    2016-07-01

    Precise orbit computation of Earth orbiting satellites is essential for efficient mission planning of planetary exploration, navigation and satellite geodesy. The third-body perturbations of the Sun and the Moon predominantly affect the satellite motion in the high altitude and elliptical orbits, where the effect of atmospheric drag is negligible. The physics of the luni-solar gravity effect on Earth satellites have been studied extensively over the years. The combined luni-solar gravitational attraction will induce a cumulative effect on the dynamics of satellite orbits, which mainly oscillates the perigee altitude. Though accurate orbital parameters are computed by numerical integration with respect to complex force models, analytical theories are highly valued for the manifold of solutions restricted to relatively simple force models. During close approach, the classical equations of motion in celestial mechanics are almost singular and they are unstable for long-term orbit propagation. A new singularity-free analytical theory in terms of KS (Kustaanheimo and Stiefel) regular elements with respect to luni-solar perturbation is developed. These equations are regular everywhere and eccentric anomaly is the independent variable. Plataforma Solar de Almería (PSA) algorithm and a Fourier series algorithm are used to compute the accurate positions of the Sun and the Moon, respectively. Numerical studies are carried out for wide range of initial parameters and the analytical solutions are found to be satisfactory when compared with numerically integrated values. The symmetrical nature of the equations allows only two of the nine equations to be solved for computing the state vectors and the time. Only a change in the initial conditions is required to solve the other equations. This theory will find multiple applications including on-board software packages and for mission analysis purposes.

  11. Process-based evaluation of the ÖKS15 Austrian climate scenarios: First results

    NASA Astrophysics Data System (ADS)

    Mendlik, Thomas; Truhetz, Heimo; Jury, Martin; Maraun, Douglas

    2017-04-01

    The climate scenarios for Austria from the ÖKS15 project consists of 13 downscaled and bias-corrected RCMs from the EURO-CORDEX project. This dataset is meant for the broad public and is now available at the central national archive for climate data (CCCA Data Center). Because of this huge public outreach it is absolutely necessary to objectively discuss the limitations of this dataset and to publish these limitations, which should also be understood by a non-scientific audience. Even though systematical climatological biases have been accounted for by the Scaled-Distribution-Mapping (SDM) bias-correction method, it is not guaranteed that the model biases have been removed for the right reasons. If climate scenarios do not get the patterns of synoptic variability right, biases will still prevail in certain weather patterns. Ultimately this will have consequences for the projected climate change signals. In this study we derive typical weather types in the Alpine Region based on patterns from mean sea level pressure from ERA-INTERIM data and check the occurrence of these synoptic phenomena in EURO-CORDEX data and their corresponding driving GCMs. Based on these weather patterns we analyze the remaining biases of the downscaled and bias-corrected scenarios. We argue that such a process-based evaluation is not only necessary from a scientific point of view, but can also help the broader public to understand the limitations of downscaled climate scenarios, as model errors can be interpreted in terms of everyday observable weather.

  12. How Do Health Care Providers Diagnose Klinefelter Syndrome?

    MedlinePlus

    ... and when a diagnosis occurs: Few newborns and boys are tested for or diagnosed with KS. Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex-chromosome differences. In childhood, symptoms can be subtle ...

  13. Downregulation of NCC and NKCC2 cotransporters by kidney-specific WNK1 revealed by gene disruption and transgenic mouse models.

    PubMed

    Liu, Zhen; Xie, Jian; Wu, Tao; Truong, Thao; Auchus, Richard J; Huang, Chou-Long

    2011-03-01

    WNK1 (with-no-lysine[K]-1) is a protein kinase of which mutations cause a familial hypertension and hyperkalemia syndrome known as pseudohypoaldosteronism type 2 (PHA2). Kidney-specific (KS) WNK1 is an alternatively spliced form of WNK1 kinase missing most of the kinase domain. KS-WNK1 downregulates the Na(+)-Cl(-) cotransporter NCC by antagonizing the effect of full-length WNK1 when expressed in Xenopus oocytes. The physiological role of KS-WNK1 in the regulation of NCC and potentially other Na(+) transporters in vivo is unknown. Here, we report that mice overexpressing KS-WNK1 in the kidney exhibited renal Na(+) wasting, elevated plasma levels of angiotensin II and aldosterone yet lower blood pressure relative to wild-type littermates. Immunofluorescent staining revealed reduced surface expression of total and phosphorylated NCC and the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in the distal convoluted tubule and the thick ascending limb of Henle's loop, respectively. Conversely, mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na(+) retention, elevated blood pressure on a high-Na(+) diet and increased surface expression of total and phosphorylated NCC and NKCC2 in respective nephron segments. Thus, KS-WNK1 is a negative regulator of NCC and NKCC2 in vivo and plays an important role in the control of Na(+) homeostasis and blood pressure. These results have important implications to the pathogenesis of PHA2 with WNK1 mutations.

  14. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  15. The metabolic syndrome in polycystic ovary syndrome.

    PubMed

    Essah, P A; Nestler, J E

    2006-03-01

    Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

  16. [The ReWiKs project : Current results of research into participation opportunities for adults with disabilities in the area of sexual self-determination].

    PubMed

    Ortland, Barbara; Jennessen, Sven; Römisch, Kathrin; Kusber-Merkens, Dorothea; Reichert, Leonie; Arlabosse, Anneke

    2016-09-01

    Several studies point to various barriers in achieving sexual self-determination for people with disabilities as well as a high degree of thematic uncertainty among staff in residential homes. In addition, women with disabilities and people in institutions are especially at risk in a particular way, to be victims of sexual violence. The ReWiKs project develops, based on evaluated guidelines for sexual self-determination, materials in order to reflect the institutional handling of the subject. Training modules and recommendations are also developed. In addition, extracts of materials are created in simple language. All materials are evaluated before their publication in an intensive theory-practice dialogue.

  17. "Hamlet" Meets "Chushingura": Traditions of the Revenge Tragedy. [Lesson Plan].

    ERIC Educational Resources Information Center

    2002

    This lesson seeks to sensitize students to the similarities and difference between cultures by comparing the Shakespearean and the Bunraki/Kabuki dramas of Japan. In the lesson, the focus of this comparison is the complex nature of revenge explored in "The Tragedy of Hamlet, Prince of Denmark" and "Chusingura," or "The…

  18. Smoking Induces Oropharyngeal Narrowing and Increases the Severity of Obstructive Sleep Apnea Syndrome

    PubMed Central

    Kim, Kyung Soo; Kim, Jun Hee; Park, Sung Yoon; Won, Ho-Ryun; Lee, Hyun-Jin; Yang, Hoon Shik; Kim, Hyun Jik

    2012-01-01

    Objective: Smoking is a known risk factor for snoring, and is reported to be associated with an increased prevalence of obstructive sleep apnea syndrome (OSAS). The purpose of this was to determine the relationship of smoking to the severity of OSAS and examine what local histological changes in the uvular mucosa of OSAS patients might influence this relationship. Study Design and Methods: Fifty-seven OSAS subjects were included and classified according to smoking history and OSAS severity. Twenty-eight subjects were heavy smokers and 29 were nonsmokers; these 57 patients were divided according to moderate or severe OSAS. Histologic changes in the uvular mucosa were evaluated in all subjects as well as smoking duration and OSAS severity. Results: Among smokers, moderate-to-severe OSAS was more common, and apnea, hypopnea, and oxygen desaturation indices were higher. Moreover, smoking duration and OSAS severity were significantly correlated. Increased thickness and edema of the uvular mucosa lamina propria were observed in moderate and severe OSAS patients, and only smokers had significant changes in uvular mucosa histology. Positive staining for calcitonin gene-related peptide (CGRP), a neuroinflammatory marker for peripheral nerves, was increased in the uvular mucosa of smokers. Conclusions: Our results suggest that smoking may worsen OSAS through exacerbation of upper airway collapse at the level of the uvula, and that histological changes of the uvular mucosa correlated with smoking might be due to increased CGRP-related neurogenic inflammation. Citation: Kim KS; Kim JH; Park SY; Won HR; Lee HJ; Yang HS; Kim HJ. Smoking induces oropharyngeal narrowing and increases the severity of obstructive sleep apnea syndrome. J Clin Sleep Med 2012;8(4):367-374. PMID:22893766

  19. Cross-cultural adaptation of the US consumer form of the short Primary Care Assessment Tool (PCAT): the Korean consumer form of the short PCAT (KC PCAT) and the Korean standard form of the short PCAT (KS PCAT).

    PubMed

    Jeon, Ki-Yeob

    2011-01-01

    It is well known that countries with well-structured primary care have better health outcomes, better health equity and reduced healthcare costs. This study aimed to culturally modify and validate the US consumer form of the short Primary Care Assessment Tool (PCAT) in primary care in the Republic of Korea (hereafter referred to as Korea). The Korean consumer form of the short PCAT (KC PCAT) was cross-culturally modified from the original version using a standardised transcultural adaptation method. A pre-test version of the KC PCAT was formulated by replacement of four items and modification of a further four items from the 37 items of the original consumer form of the short PCAT at face value evaluation meetings. Pilot testing was done with a convenience sample of 15 responders at two different sites. Test-retest showed high reliability. To validate the KC PCAT, 606 clients participated in a survey carried out in Korea between February and May 2006. Internal consistency reliability, test-retest reliability and factor analysis were conducted in order to test validity. Psychometric testing was carried out on 37 items of the KC PCAT to make the KS PCAT which has 30 items and has seven principal domains: first contact utilisation, first contact accessibility, ongoing accountable care (ongoing care and coordinated rapport care), integrated care (patient-centred care with integration between primary and specialty care or between different specialties), comprehensive care, community-oriented care and culturally-oriented care. Component factors of the verified KS PCAT explained 58.28% of the total variance in the total item scores of primary care. The verified KS PCAT has been characterised by the seven classic domains of primary care with minor modifications. This may provide clues concerning differences in expectations for primary care in the Korean population as compared with that of the US. The KS PCAT is a reliable and valid tool for the evaluation of the quality of

  20. Next-Generation Sequence Analysis of the Genome of RFHVMn, the Macaque Homolog of Kaposi's Sarcoma (KS)-Associated Herpesvirus, from a KS-Like Tumor of a Pig-Tailed Macaque

    PubMed Central

    Bruce, A. Gregory; Ryan, Jonathan T.; Thomas, Mathew J.; Peng, Xinxia; Grundhoff, Adam; Tsai, Che-Chung

    2013-01-01

    The complete sequence of retroperitoneal fibromatosis-associated herpesvirus Macaca nemestrina (RFHVMn), the pig-tailed macaque homolog of Kaposi's sarcoma-associated herpesvirus (KSHV), was determined by next-generation sequence analysis of a Kaposi's sarcoma (KS)-like macaque tumor. Colinearity of genes was observed with the KSHV genome, and the core herpesvirus genes had strong sequence homology to the corresponding KSHV genes. RFHVMn lacked homologs of open reading frame 11 (ORF11) and KSHV ORFs K5 and K6, which appear to have been generated by duplication of ORFs K3 and K4 after the divergence of KSHV and RFHV. RFHVMn contained positional homologs of all other unique KSHV genes, although some showed limited sequence similarity. RFHVMn contained a number of candidate microRNA genes. Although there was little sequence similarity with KSHV microRNAs, one candidate contained the same seed sequence as the positional homolog, kshv-miR-K12-10a, suggesting functional overlap. RNA transcript splicing was highly conserved between RFHVMn and KSHV, and strong sequence conservation was noted in specific promoters and putative origins of replication, predicting important functional similarities. Sequence comparisons indicated that RFHVMn and KSHV developed in long-term synchrony with the evolution of their hosts, and both viruses phylogenetically group within the RV1 lineage of Old World primate rhadinoviruses. RFHVMn is the closest homolog of KSHV to be completely sequenced and the first sequenced RV1 rhadinovirus homolog of KSHV from a nonhuman Old World primate. The strong genetic and sequence similarity between RFHVMn and KSHV, coupled with similarities in biology and pathology, demonstrate that RFHVMn infection in macaques offers an important and relevant model for the study of KSHV in humans. PMID:24109218

  1. A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

    PubMed Central

    KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

    2014-01-01

    Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

  2. Duane Syndrome

    MedlinePlus

    ... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

  3. Seckel syndrome: an overdiagnosed syndrome.

    PubMed Central

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

  4. Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

    PubMed

    Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

  5. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    PubMed

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  6. Wells syndrome and its relationship to Churg-Strauss syndrome.

    PubMed

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  7. 78 FR 64506 - Center for Scientific Review; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-29

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health Center for Scientific Review; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the Tumor Cell Biology Study Section, October 16, 2013, 08:00 a.m. to October 17, 2013, 05:00 p.m., Hotel Kabuki, 1625 Post...

  8. Edo: Art in Japan 1615-1868. Teaching Program.

    ERIC Educational Resources Information Center

    Guth, Christine; Henderson, Anne; Hinish, Heidi; Moore, Barbara

    The Edo period in Japan (1615-1868) saw the flowering of many forms of cultural expression, colorful and boisterous, muted and restrained, that today is thought of as typically Japanese. These include kabuki and no drama, the tea ceremony, martial arts, woodblock prints, and porcelain. This culturally diverse and vibrant period gets its name from…

  9. Unfavorably Altered Fibrin Clot Properties in Patients with Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome): Association with Thrombin Generation and Eosinophilia.

    PubMed

    Mastalerz, Lucyna; Celińska-Lӧwenhoff, Magdalena; Krawiec, Piotr; Batko, Bogdan; Tłustochowicz, Witold; Undas, Anetta

    2015-01-01

    Given reports on the increased prevalence of thromboembolic incidents in patients with eosinophilic granulomatosis with polyangiitis (EGPA; Churg-Strauss syndrome), we investigated whether fibrin clot properties are unfavorably altered in EGPA. Ex vivo plasma fibrin clot characteristics, including clot permeability, turbidimetry and efficiency of fibrinolysis using two assays, were investigated in 34 consecutive patients with remission in EGPA according to the Birmingham Vasculitis Activity Score version 3 (23 female, 11 male), aged 48 (range, 21-80) years. The control group comprised 34 age- and sex- matched volunteers. Compared with controls, patients with EGPA were characterized by denser fiber clots (estimated pore size, Ks, 7.30±0.93 vs 10.14±1.07 10-9 cm2), faster fibrin polymerization (lag phase in a turbidimetric curve, 41.8±3.6 vs 47.4±2.9 s), thicker fibrin fibers (maximum absorbance, ΔAbs, 0.87±0.09 vs 0.72±0.07), higher maximum levels of D-dimer released from clots (DDmax 4.10±0.46 vs 3.54±0.35 mg/L), and prolonged clot lysis time (t50%; 9.50±1.45 vs 7.56±0.87 min); all p<0.0001. Scanning electron microscopy images confirmed denser plasma fibrin networks composed of thinner fibers formed in EGPA. Antineutrophil cytoplasmic antibody status and C-reactive protein did not affect clot variables. Multivariate analysis adjusted for fibrinogen showed that Ks was predicted by eosinophil count, peak thrombin generation, factor VIII, and soluble CD40 ligand, whereas eosinophil count, peak thrombin generation and antiplasmin predicted t50%. This study is the first to show that EGPA is associated with prothrombotic plasma fibrin clot phenotype, which may contribute to thromboembolic manifestations reported in this disease.

  10. Unfavorably Altered Fibrin Clot Properties in Patients with Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome): Association with Thrombin Generation and Eosinophilia

    PubMed Central

    Mastalerz, Lucyna; Celińska-Lӧwenhoff, Magdalena; Krawiec, Piotr; Batko, Bogdan; Tłustochowicz, Witold; Undas, Anetta

    2015-01-01

    Objectives Given reports on the increased prevalence of thromboembolic incidents in patients with eosinophilic granulomatosis with polyangiitis (EGPA; Churg-Strauss syndrome), we investigated whether fibrin clot properties are unfavorably altered in EGPA. Methods Ex vivo plasma fibrin clot characteristics, including clot permeability, turbidimetry and efficiency of fibrinolysis using two assays, were investigated in 34 consecutive patients with remission in EGPA according to the Birmingham Vasculitis Activity Score version 3 (23 female, 11 male), aged 48 (range, 21–80) years. The control group comprised 34 age- and sex- matched volunteers. Results Compared with controls, patients with EGPA were characterized by denser fiber clots (estimated pore size, Ks, 7.30±0.93 vs 10.14±1.07 10−9 cm2), faster fibrin polymerization (lag phase in a turbidimetric curve, 41.8±3.6 vs 47.4±2.9 s), thicker fibrin fibers (maximum absorbance, ΔAbs, 0.87±0.09 vs 0.72±0.07), higher maximum levels of D-dimer released from clots (DDmax 4.10±0.46 vs 3.54±0.35 mg/L), and prolonged clot lysis time (t50%; 9.50±1.45 vs 7.56±0.87 min); all p<0.0001. Scanning electron microscopy images confirmed denser plasma fibrin networks composed of thinner fibers formed in EGPA. Antineutrophil cytoplasmic antibody status and C-reactive protein did not affect clot variables. Multivariate analysis adjusted for fibrinogen showed that Ks was predicted by eosinophil count, peak thrombin generation, factor VIII, and soluble CD40 ligand, whereas eosinophil count, peak thrombin generation and antiplasmin predicted t50%. Conclusion This study is the first to show that EGPA is associated with prothrombotic plasma fibrin clot phenotype, which may contribute to thromboembolic manifestations reported in this disease. PMID:26540111

  11. Kindler syndrome.

    PubMed

    Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  12. "Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

    PubMed

    D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

    2011-01-01

    Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

  13. Fanconi syndrome

    MedlinePlus

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  14. [Kenny-Caffey syndrome and its related syndromes].

    PubMed

    Isojima, Tsuyoshi; Kitanaka, Sachiko

    2015-11-01

    Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes.

  15. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  16. Two Boys with 47, XXY and Autism

    ERIC Educational Resources Information Center

    Merhar, S. L.; Manning-Courtney, P.

    2007-01-01

    Two children with autism and Klinefelter syndrome (KS) (47, XXY) are presented. Both qualify for the diagnosis of autism based on DSM-IV with severely delayed and disordered language, difficulties with social interaction, and a restricted range of interests and activities. Both also have abnormal EEGs, and one patient has had what appear to be…

  17. West syndrome in a patient with Schinzel-Giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  18. Herpes Simplex Virus Type 2 Triggers Reactivation of Kaposi's Sarcoma-Associated Herpesvirus from Latency and Collaborates with HIV-1 Tat

    PubMed Central

    Zhu, Xiaolei; Ma, Xinting; Yan, Qin; Zeng, Yi; Guo, Yuanyuan; Feng, Ninghan; Lu, Chun

    2012-01-01

    Kaposi's sarcoma-associated herpesvirus (KSHV) infection was necessary but not sufficient for Kaposi's sarcoma (KS) development without other cofactors. Previously, we identified that both human immunodeficiency type 1 (HIV-1) Tat and herpes simplex virus 1 (HSV-1) were important cofactors reactivating KSHV from latency. Here, we further investigated the potential of herpes simplex virus 2 (HSV-2) to influence KSHV replication and examined the role of Tat in this procedure. We demonstrated that HSV-2 was a potentially important factor in the pathogenesis of KS, as determined by production of lytic phase mRNA transcripts, viral proteins and infectious viral particles in BCBL-1 cells. These results were further confirmed by an RNA interference experiment using small interfering RNA targeting KSHV Rta and a luciferase reporter assay testing Rta promoter-driven luciferase activity. Mechanistic studies showed that HSV-2 infection activated nuclear factor-kappa B (NF-κB) signaling pathway. Inhibition of NF-κB pathway enhanced HSV-2-mediated KSHV activation, whereas activation of NF-κB pathway suppressed KSHV replication in HSV-2-infected BCBL-1 cells. Additionally, ectopic expression of Tat enhanced HSV-2-induced KSHV replication. These novel findings suggest a role of HSV-2 in the pathogenesis of KS and provide the first laboratory evidence that Tat may participate HSV-2-mediated KSHV activation, implying the complicated pathogenesis of acquired immunodeficiency syndrome (AIDS)-related KS (AIDS-KS) patients. PMID:22347501

  19. Structural and molecular characterization of the prefoldin beta subunit from Thermococcus strain KS-1.

    PubMed

    Kida, Hiroshi; Sugano, Yuri; Iizuka, Ryo; Fujihashi, Masahiro; Yohda, Masafumi; Miki, Kunio

    2008-11-14

    Prefoldin (PFD) is a heterohexameric molecular chaperone that is found in eukaryotic cytosol and archaea. PFD is composed of alpha and beta subunits and forms a "jellyfish-like" structure. PFD binds and stabilizes nascent polypeptide chains and transfers them to group II chaperonins for completion of their folding. Recently, the whole genome of Thermococcus kodakaraensis KOD1 was reported and shown to contain the genes of two alpha and two beta subunits of PFD. The genome of Thermococcus strain KS-1 also possesses two sets of alpha (alpha1 and alpha2) and beta subunits (beta1 and beta2) of PFD (TsPFD). However, the functions and roles of each of these PFD subunits have not been investigated in detail. Here, we report the crystal structure of the TsPFD beta1 subunit at 1.9 A resolution and its functional analysis. TsPFD beta1 subunits form a tetramer with four coiled-coil tentacles resembling the jellyfish-like structure of heterohexameric PFD. The beta hairpin linkers of beta1 subunits assemble to form a beta barrel "body" around a central fourfold axis. Size-exclusion chromatography and multi-angle light-scattering analyses show that the beta1 subunits form a tetramer at pH 8.0 and a dimer of tetramers at pH 6.8. The tetrameric beta1 subunits can protect against aggregation of relatively small proteins, insulin or lysozyme. The structural and biochemical analyses imply that PFD beta1 subunits act as molecular chaperones in living cells of some archaea.

  20. Kindler syndrome.

    PubMed

    Lai-Cheong, Joey E; McGrath, John A

    2010-01-01

    Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

  1. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    PubMed Central

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome. There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. Educational aims To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS). To examine the prevalence of OSAHS in adults with Down syndrome. To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour

  2. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

    PubMed

    Hill, Elizabeth A

    2016-12-01

    Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely

  3. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  4. [Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

    PubMed

    Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

    2014-01-01

    Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  5. LEOPARD syndrome

    MedlinePlus

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  6. Irritable Bowel Syndrome

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Irritable Bowel Syndrome KidsHealth / For Teens / Irritable Bowel Syndrome What's in ... intestinal disorder called irritable bowel syndrome. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a common intestinal ...

  7. Metagenomic Analyses of the Autotrophic Fe(II)-Oxidizing, Nitrate-Reducing Enrichment Culture KS

    PubMed Central

    Tominski, Claudia; Kappler, Andreas; Behrens, Sebastian

    2016-01-01

    Nitrate-dependent ferrous iron [Fe(II)] oxidation (NDFO) is a well-recognized chemolithotrophic pathway in anoxic sediments. The neutrophilic chemolithoautotrophic enrichment culture KS originally obtained from a freshwater sediment (K. L. Straub, M. Benz, B. Schink, and F. Widdel, Appl Environ Microbiol 62:1458–1460, 1996) has been used as a model system to study NDFO. However, the primary Fe(II) oxidizer in this culture has not been isolated, despite extensive efforts to do so. Here, we present a metagenomic analysis of this enrichment culture in order to gain insight into electron transfer pathways and the roles of different bacteria in the culture. We obtained a near-complete genome of the primary Fe(II) oxidizer, a species in the family Gallionellaceae, and draft genomes from its flanking community members. A search of the putative extracellular electron transfer pathways in these genomes led to the identification of a homolog of the MtoAB complex [a porin-multiheme cytochrome c system identified in neutrophilic microaerobic Fe(II)-oxidizing Sideroxydans lithotrophicus ES-1] in a Gallionellaceae sp., and findings of other putative genes involving cytochrome c and multicopper oxidases, such as Cyc2 and OmpB. Genome-enabled metabolic reconstruction revealed that this Gallionellaceae sp. lacks nitric oxide and nitrous oxide reductase genes and may partner with flanking populations capable of complete denitrification to avoid toxic metabolite accumulation, which may explain its resistance to growth in pure culture. This and other revealed interspecies interactions and metabolic interdependencies in nitrogen and carbon metabolisms may allow these organisms to cooperate effectively to achieve robust chemolithoautotrophic NDFO. Overall, the results significantly expand our knowledge of NDFO and suggest a range of genetic targets for further exploration. PMID:26896135

  8. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    PubMed

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  9. Aarskog syndrome

    MedlinePlus

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  10. Malabsorption Syndromes

    MedlinePlus

    ... foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. ...

  11. [XYY syndrome (diplo-Y syndrome)].

    PubMed

    Braun-Scharm, H; Schroeder-Kurth, T M

    1986-01-01

    A case is reported of a 12-year-old boy with the XYY syndrome and unusual clinical symptoms. In addition, past research on the XYY syndrome and the current state of knowledge is reviewed, with special emphasis on psychopathology, psychiatry and genetic counseling.

  12. Polycystic ovary syndrome and metabolic syndrome.

    PubMed

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  13. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  14. Williams syndrome

    MedlinePlus

    ... with Williams syndrome may show: A flattened nasal bridge with small upturned nose Long ridges in the ... Alternative Names Williams-Beuren syndrome Images Low nasal bridge Chromosomes and DNA References Morris CA. Williams syndrome. ...

  15. Exogenous Cushing syndrome

    MedlinePlus

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  16. Targets to treat metabolic syndrome in polycystic ovary syndrome

    PubMed Central

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2016-01-01

    Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

  17. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    PubMed

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  18. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  19. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    ERIC Educational Resources Information Center

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  20. The Ionized Gas and Nuclear Environment in NGC 3783. IV; Variability and Modeling of the 900 ks CHANDRA Spectrum

    NASA Technical Reports Server (NTRS)

    Netzer, Hagai; Kaspi, Shai; Behar, Ehud; Brandt, W. N.; Chelouche, Doron; George, Ian M.; Crenshaw, D. Michael; Gabel, Jack R.; Hamann, Frederick W.; George, Steven B.

    2003-01-01

    We present a detailed analysis of the 900 ks spectrum of NGC3783 obtained by Chandra in 2000-2001 (Kaspi et al. 2002). We split the data in various ways to look for time dependent and luminosity dependent spectral variations. This analysis, the measured equivalent widths of a large number of X-ray lines, and our photoionization calculations, lead us to the following conclusions: 1) NGC 3783 fluctuated in luminosity, by a factor N 1.5, during individual 170 ks observations. The fluctuations were not associated with significant spectral variations. 2) On a longer time scale, of 20-120 days, we discovered two very different spectral shapes that are noted the high state and the low state spectra. The observed changes between the two can be described as the appearance and disappearance of a soft continuum component. The spectral variations are not related, in a simple way, to the brightening or the fading of the short wavelength continuum, as observed in other objects. NGC3783 seems to be the first AGN to show this unusual behavior. 3) The appearance of the soft continuum component is consistent with beeing the only spectral variation and there is no need to invoke changes in the absorber s opacity. In particular, all absorption lines with reliable measurements show the same equivalent width, within the observational uncertainties, during high and low states. 4) Photoionization model calculations show that a combination of three ionization components, each split into two kinematic components, explain very well the intensity of almost all absorption lines and the bound-free absorption. The components span a large range of ionization and a total column of about 3 x 10(exp 22) per square centimeter Moreover, all components are thermally stable and are situated on the vertical branch of the stability curve.. This means that they are in pressure equilibrium and perhaps occupy the same volume of space. This is the first detection of such a multi-component equilibrium gas in

  1. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Home / < Back To Health Topics / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  2. Loeys-Dietz Syndrome

    MedlinePlus

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  3. Refeeding syndrome.

    PubMed

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  4. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  5. Measurement of the branching ratios of D(+) and D(+)(s) hadronic decays to four-body final states containing a K(S).

    PubMed

    Link, J M; Reyes, M; Yager, P M; Anjos, J C; Bediaga, I; Göbel, C; Magnin, J; Massafferi, A; de Miranda, J M; Pepe, I M; dos Reis, A C; Simão, F R; Carrillo, S; Casimiro, E; Sánchez-Hernández, A; Uribe, C; Vázquez, F; Cinquini, L; Cumalat, J P; O'Reilly, B; Ramirez, J E; Vaandering, E W; Butler, J N; Cheung, H W; Gaines, I; Garbincius, P H; Garren, L A; Gottschalk, E; Kasper, P H; Kreymer, A E; Kutschke, R; Bianco, S; Fabbri, F L; Sarwar, S; Zallo, A; Cawlfield, C; Kim, D Y; Rahimi, A; Wiss, J; Gardner, R; Chung, Y S; Kang, J S; Ko, B R; Kwak, J W; Lee, K B; Park, H; Alimonti, G; Boschini, M; Caccianiga, B; D'Angelo, P; DiCorato, M; Dini, P; Giammarchi, M; Inzani, P; Leveraro, F; Malvezzi, S; Menasce, D; Mezzadri, M; Milazzo, L; Moroni, L; Pedrini, D; Pontoglio, C; Prelz, F; Rovere, M; Sala, A; Sala, S; Davenport, T F; Agostino, L; Arena, V; Boca, G; Bonomi, G; Gianini, G; Liguori, G; Merlo, M; Pantea, D; Ratti, S P; Riccardi, C; Segoni, I; Viola, L; Vitulo, P; Hernandez, H; Lopez, A M; Mendez, H; Mendez, L; Mirles, A; Montiel, E; Olaya, D; Paris, A; Quinones, J; Rivera, C; Xiong, W; Zhang, Y; Wilson, J R; Cho, K; Handler, T; Engh, D; Hosack, M; Johns, W E; Nehring, M; Sheldon, P D; Stenson, K; Webster, M; Sheaff, M

    2001-10-15

    We have studied hadronic four-body decays of D(+) and D(+)(s) mesons with a K(S) in the final state using data recorded during the 1996-1997 fixed-target run of the Fermilab high energy photoproduction experiment FOCUS. We report a new branching ratio measurement of gamma(D(+)-->K(S)K-pi(+)pi(+))/gamma(D(+)-->K(S)pi(+)pi(+)pi(-)) = 0.0768+/-0.0041+/-0.0032. We make the first observation of three new decay modes with branching ratios gamma(D(+)-->K(S)K+pi(+)pi(-))/gamma(D(+)-->K(S)pi(+)pi(+)pi(-)) = 0.0562+/-0.0039+/-0.0040, gamma(D(+)-->K(S)K+K-pi(+))/gamma(D(+)-->K(S)pi(+)pi(+)pi(-)) = 0.0077+/-0.0015+/-0.0009, and gamma(D(+)(s)-->K(S)K+pi(+)pi(-))/gamma(D(+)(s)-->K(S)K-pi(+)pi(+)) = 0.586+/-0.052+/-0.043, where in each case the first error is statistical and the second error is systematic.

  6. Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

    DTIC Science & Technology

    2016-09-01

    Syndrome of the Acute Radiation Syndrome PRINCIPAL...SUBTITLE 5a. CONTRACT NUMBER Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome 5b. GRANT NUMBER W81XWH-15...protective role against hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow

  7. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  8. Ehlers-Danlos Syndrome

    MedlinePlus

    ... Danlos syndrome care at Mayo Clinic Symptoms Classic Ehlers-Danlos syndrome Signs and symptoms of the most common form ... but few or none of the skin symptoms. Ehlers-Danlos syndrome, vascular type People who have Ehlers-Danlos syndrome, ...

  9. The short arm deletion syndrome of chromosome 4 (4p- syndrome).

    PubMed

    Zellweger, H; Bardach, J; Bordwell, J; Williams, K

    1975-01-01

    Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

  10. Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

    PubMed

    Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

    2008-04-01

    We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

  11. Down Syndrome

    MedlinePlus

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  12. TAFRO Syndrome.

    PubMed

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Development and characteristics of children with Usher syndrome and CHARGE syndrome.

    PubMed

    Dammeyer, Jesper

    2012-09-01

    Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  14. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    PubMed

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  15. [Poland's syndrome].

    PubMed

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  16. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    PubMed

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  17. Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

    DTIC Science & Technology

    2017-05-01

    AWARD NUMBER: W81XWH-15-1-0207 TITLE: “Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome ...SUBTITLE Protective Role of Angiogenin Against Hematopoietic Syndrome 5a. CONTRACT NUMBER of the Acute Radiation Syndrome 5b. GRANT NUMBER 5c...hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow damage (RBMD) after

  18. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  19. KSHV-associated multicentric Castleman disease: A tangle of different entities requiring multitarget treatment strategies.

    PubMed

    Carbone, Antonino; De Paoli, Paolo; Gloghini, Annunziata; Vaccher, Emanuela

    2015-07-15

    Multicentric Castleman Disease (MCD) is a lymphoproliferative disorder presenting with heterogeneous pathological and clinical features. It comprises disease entities with a complex aetiology and overlapping pathogenesis. MCD can be found in association with HIV infection, plasma-cell dyscrasias, Kaposi sarcoma (KS), B-cell lymphomas including primary effusion lymphoma (PEL) and its solid variant, and Hodgkin lymphoma. In KSHV-associated MCD cases, a common association is KS and a specific variant of lymphoma referred to as "plasmablastic lymphoma," also called "large B-cell lymphoma arising in KSHV-associated MCD" lacking EBV infection. MCD is often referred to as human interleukin-6 (hIL-6) syndrome, since an overproduction of IL-6 occurs in MCD-associated diseases as well as in MCD itself. hIL-6 and a viral IL-6 (vIL-6) homolog encoded by KSHV can independently or together lead to flares of KSHV-associated MCD. Recently, a new clinical entity was proposed to describe a severe systemic infection/reactivation of KSHV: KSHV inflammatory syndrome (KICS). KICS may contribute in inducing the inflammatory symptoms seen in some patients with severe KS or PEL. The precise relationship of KICS to KSHV-associated MCD is unclear and it is possible that KICS may be prodromal symptoms to frank KSHV-associated MCD. Options for treatment of KSHV-associated MCD and related diseases include monoclonal antibodies, chemotherapy, immune modulators, virus-activated cytotoxic therapy and antiviral therapies. A comprehensive understanding of the intricacies of the HIV-KSHV coinfection will probably lead to additional advances in therapy and managements for these disorders. © 2014 UICC.

  20. Diagnosis and clinical characteristics of congenital anosmia: case series report.

    PubMed

    Qu, Qiuyi; Liu, Jianfeng; Ni, Daofeng; Zhang, Qiuhang; Yang, Dazhang; Wang, Naya; Wu, Xueyan; Han, Honglei

    2010-12-01

    congenital anosmia is extremely rare and tends to present late. We report on a series of patients with congenital anosmia to analyze its clinical characteristics and present illustrative cases. retrospective chart review. tertiary care centre. thirty-five patients with congenital anosmia were reviewed. A thorough medical history taking, physical examination, and nasal endoscopy were performed in all patients. T&T olfactory testing (n = 33), olfactory event-related potentials (OERPs) (n = 33), and sinonasal computed tomography (CT) (n = 35) were carried out. Magnetic resonance images (MRIs) of the olfactory pathway (n = 34) were available. Serum sex hormones were tested (n = 33). physical examination, olfactory testing, MRI of the olfactory pathway, and serum sex hormones. twenty cases were isolated congenital anosmia (ICA). Fifteen cases were congenital anosmia with other anomalies, including 12 cases with Kallmann syndrome (KS), two with CHARGE syndrome, and one with hypoplasia of the nasal cavity and nasal sinus. T&T olfactory testing indicated anosmia (n = 33). No OERP was obtained (n = 33). CT scans indicated three abnormal patients, including two with unilateral choanal atresia and one with hypoplasia of the nasal cavity and sinus. MRI demonstrated aplasia or hypoplasia of the olfactory bulbs, tracts, and olfactory sulci (n = 34). Serum sex hormones were low in 12 patients with KS. early diagnosis of congenital anosmia on the basis of olfactory symptoms is difficult. MRI of the olfactory pathway plays an important role in anatomic location. ICA is the most common congenital anosmia. KS is the primary presentation of congenital anosmia with other anomalies.

  1. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

    1994-11-01

    The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newbornmore » infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.« less

  2. Marfan Syndrome (For Teens)

    MedlinePlus

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  3. Swyer-James syndrome associated with Noonan syndrome: report of a case.

    PubMed

    Lin, Y M; Huang, W L; Hwang, J J; Ko, Y L; Lien, W P

    1995-12-01

    A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.

  4. Divorce in families of children with Down Syndrome or Rett Syndrome.

    PubMed

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  5. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. © 2015 Elsevier B.V. All rights reserved.

  6. Gorlin-goltz syndrome.

    PubMed

    Pandeshwar, Padma; Jayanthi, K; Mahesh, D

    2012-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  7. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  8. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  9. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  10. Spanish version of the Kidney Disease Knowledge Survey (KiKS) in Peru: cross-cultural adaptation and validation.

    PubMed

    Mota-Anaya, Evelin; Yumpo-Cárdenas, Daniel; Alva-Bravo, Edmundo; Wright-Nunes, Julie; Mayta-Tristán, Percy

    2016-08-08

    Chronic kidney disease (CKD) affects 50 million people globally. Several studies show the importance of implementing interventions that enhance patients’ knowledge about their disease. In 2011 the Kidney Disease Knowledge Survey (KiKS) was developed: a questionnaire that assesses the specific knowledge about chronic kidney disease in pre-dialysis patients. To translate to Spanish, culturally adapt and validate the Kidney Disease Knowledge Survey questionnaire in a population of patients with pre-dialysis chronic kidney disease. We carried out a Spanish translation and cross-cultural adaptation of the Kidney Disease Knowledge Survey questionnaire. Subsequently, we determined its validity and reliability. We determined the validity through construct validity; and reliability by evaluating its internal consistency and its intra-observer reliability (test-retest). We found a good internal consistency (Kuder-Richardson = 0.85). The intra-observer reliability was measured by the intra-class correlation coefficient that yielded a value of 0.78 (95% CI: 0.5-1.0). This value indicated a good reproducibility; also, the mean difference of -1.1 test-retest SD 6.0 (p = 0.369) confirms this finding. The translated Spanish version of the Kidney Disease Knowledge Survey is acceptable and equivalent to the original version; it also has a good reliability, validity and reproducibility. Therefore, it can be used in a population of patients with pre-dialysis chronic kidney disease.

  11. K(S)0 and Λ production in Pb-Pb collisions at √(s(NN))=2.76 TeV.

    PubMed

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Mohanty, B; Molnar, L; Montaño Zetina, L; Monteno, M; Montes, E; Morando, M; Moreira De Godoy, D A; Moretto, S; Morreale, A; Morsch, A; Muccifora, V; Mudnic, E; Muhuri, S; Mukherjee, M; Müller, H; Munhoz, M G; Murray, S; Musa, L; Nandi, B K; Nania, R; Nappi, E; Nattrass, C; Nayak, T K; Nazarenko, S; Nedosekin, A; Nicassio, M; Niculescu, M; Nielsen, B S; Nikolaev, S; Nikulin, S; Nikulin, V; Nilsen, B S; Nilsson, M S; Noferini, F; Nomokonov, P; Nooren, G; Nyanin, A; Nyatha, A; Nystrand, J; Oeschler, H; Oh, S K; Oh, S; Olah, L; Oleniacz, J; Oliveira Da Silva, A C; Onderwaater, J; Oppedisano, C; Ortiz Velasquez, A; Oskarsson, A; Otwinowski, J; Oyama, K; Pachmayer, Y; Pachr, M; Pagano, P; Paić, G; Painke, F; Pajares, C; Pal, S K; Palaha, A; Palmeri, A; Papikyan, V; Pappalardo, G S; Park, W J; Passfeld, A; Patalakha, D I; Paticchio, V; Paul, B; Pawlak, T; Peitzmann, T; Pereira Da Costa, H; Pereira De Oliveira Filho, E; Peresunko, D; Pérez Lara, C E; Perrino, D; Peryt, W; Pesci, A; Pestov, Y; Petráček, V; Petran, M; Petris, M; Petrov, P; Petrovici, M; Petta, C; Piano, S; Pikna, M; Pillot, P; Pinazza, O; Pinsky, L; Pitz, N; Piyarathna, D B; Planinic, M; Płoskoń, M; Pluta, J; Pochybova, S; Podesta-Lerma, P L M; Poghosyan, M G; Polichtchouk, B; Pop, A; Porteboeuf-Houssais, S; Pospíšil, V; Potukuchi, B; Prasad, S K; Preghenella, R; Prino, F; Pruneau, C A; Pshenichnov, I; Puddu, G; Punin, V; Putschke, J; Qvigstad, H; Rachevski, A; Rademakers, A; Rak, J; Rakotozafindrabe, A; Ramello, L; Raniwala, S; Raniwala, R; Räsänen, S S; Rascanu, B T; Rathee, D; Rauch, W; Rauf, A W; Razazi, V; Read, K F; Real, J S; Redlich, K; Reed, R J; Rehman, A; Reichelt, P; Reicher, M; Reidt, F; Renfordt, R; Reolon, A R; Reshetin, A; Rettig, F; Revol, J-P; Reygers, K; Riccati, L; Ricci, R A; Richert, T; Richter, M; Riedler, P; Riegler, W; Riggi, F; Rivetti, A; Rodríguez Cahuantzi, M; Rodriguez Manso, A; Røed, K; Rogochaya, E; Rohni, S; Rohr, D; Röhrich, D; Romita, R; Ronchetti, F; Rosnet, P; Rossegger, S; Rossi, A; Roy, P; Roy, C; Rubio Montero, A J; Rui, R; Russo, R; Ryabinkin, E; Rybicki, A; Sadovsky, S; Safařík, K; Sahoo, R; Sahu, P K; Saini, J; Sakaguchi, H; Sakai, S; Sakata, D; Salgado, C A; Salzwedel, J; Sambyal, S; Samsonov, V; Sanchez Castro, X; Sándor, L; Sandoval, A; Sano, M; Santagati, G; Santoro, R; Sarkar, D; Scapparone, E; Scarlassara, F; Scharenberg, R P; Schiaua, C; Schicker, R; Schmidt, C; Schmidt, H R; Schuchmann, S; Schukraft, J; Schulc, M; Schuster, T; Schutz, Y; Schwarz, K; Schweda, K; Scioli, G; Scomparin, E; Scott, R; Scott, P A; Segato, G; Selyuzhenkov, I; Seo, J; Serci, S; Serradilla, E; Sevcenco, A; Shabetai, A; Shabratova, G; Shahoyan, R; Sharma, S; Sharma, N; Shigaki, K; Shtejer, K; Sibiriak, Y; Siddhanta, S; Siemiarczuk, T; Silvermyr, D; Silvestre, C; Simatovic, G; Singaraju, R; Singh, R; Singha, S; Singhal, V; Sinha, B C; Sinha, T; Sitar, B; Sitta, M; Skaali, T B; Skjerdal, K; Smakal, R; Smirnov, N; Snellings, R J M; Soltz, R; Song, M; Song, J; Soos, C; Soramel, F; Spacek, M; Sputowska, I; Spyropoulou-Stassinaki, M; Srivastava, B K; Stachel, J; Stan, I; Stefanek, G; Steinpreis, M; Stenlund, E; Steyn, G; Stiller, J H; Stocco, D; Stolpovskiy, M; Strmen, P; Suaide, A A P; Subieta Vásquez, M A; Sugitate, T; Suire, C; Suleymanov, M; Sultanov, R; Sumbera, M; Susa, T; Symons, T J M; Szanto de Toledo, A; Szarka, I; Szczepankiewicz, A; Szymański, M; Takahashi, J; Tangaro, M A; Tapia Takaki, J D; Tarantola Peloni, A; Tarazona Martinez, A; Tauro, A; Tejeda Muñoz, G; Telesca, A; Terrevoli, C; Ter Minasyan, A; Thäder, J; Thomas, D; Tieulent, R; Timmins, A R; Toia, A; Torii, H; Trubnikov, V; Trzaska, W H; Tsuji, T; Tumkin, A; Turrisi, R; Tveter, T S; Ulery, J; Ullaland, K; Ulrich, J; Uras, A; Urciuoli, G M; Usai, G L; Vajzer, M; Vala, M; Valencia Palomo, L; Vande Vyvre, P; Vannucci, L; Van Hoorne, J W; van Leeuwen, M; Vargas, A; Varma, R; Vasileiou, M; Vasiliev, A; Vechernin, V; Veldhoen, M; Venaruzzo, M; Vercellin, E; Vergara, S; Vernet, R; Verweij, M; Vickovic, L; Viesti, G; Viinikainen, J; Vilakazi, Z; Villalobos Baillie, O; Vinogradov, A; Vinogradov, L; Vinogradov, Y; Virgili, T; Viyogi, Y P; Vodopyanov, A; Völkl, M A; Voloshin, S; Voloshin, K; Volpe, G; von Haller, B; Vorobyev, I; Vranic, D; Vrláková, J; Vulpescu, B; Vyushin, A; Wagner, B; Wagner, V; Wagner, J; Wang, Y; Wang, Y; Wang, M; Watanabe, D; Watanabe, K; Weber, M; Wessels, J P; Westerhoff, U; Wiechula, J; Wikne, J; Wilde, M; Wilk, G; Wilkinson, J; Williams, M C S; Windelband, B; Winn, M; Xiang, C; Yaldo, C G; Yamaguchi, Y; Yang, H; Yang, P; Yang, S; Yano, S; Yasnopolskiy, S; Yi, J; Yin, Z; Yoo, I-K; Yushmanov, I; Zaccolo, V; Zach, C; Zampolli, C; Zaporozhets, S; Zarochentsev, A; Závada, P; Zaviyalov, N; Zbroszczyk, H; Zelnicek, P; Zgura, I S; Zhalov, M; Zhang, F; Zhang, Y; Zhang, H; Zhang, X; Zhou, D; Zhou, Y; Zhou, F; Zhu, X; Zhu, J; Zhu, J; Zhu, H; Zichichi, A; Zimmermann, M B; Zimmermann, A; Zinovjev, G; Zoccarato, Y; Zynovyev, M; Zyzak, M

    2013-11-27

    The ALICE measurement of K(S)(0) and Λ production at midrapidity in Pb-Pb collisions at √(s(NN))=2.76 TeV is presented. The transverse momentum (p(T)) spectra are shown for several collision centrality intervals and in the p(T) range from 0.4 GeV/c (0.6 GeV/c for Λ) to 12 GeV/c. The p(T) dependence of the Λ/K(S)(0) ratios exhibits maxima in the vicinity of 3 GeV/c, and the positions of the maxima shift towards higher p(T) with increasing collision centrality. The magnitude of these maxima increases by almost a factor of three between most peripheral and most central Pb-Pb collisions. This baryon excess at intermediate p(T) is not observed in pp interactions at √s=0.9 TeV and at √s=7 TeV. Qualitatively, the baryon enhancement in heavy-ion collisions is expected from radial flow. However, the measured p(T) spectra above 2 GeV/c progressively decouple from hydrodynamical-model calculations. For higher values of p(T), models that incorporate the influence of the medium on the fragmentation and hadronization processes describe qualitatively the p(T) dependence of the Λ/K(S)(0) ratio.

  12. [Münchhausen syndrome].

    PubMed

    Robert, J C; Cremniter, D; Lejonc, J L

    1991-04-20

    Münchhausen's syndrome is characterized by fictitious illnesses associated with hospital peregrination, pseudologia fantastica with a mythomanic discourse that includes strongly structured medical elements, passivity and dependance at examinations, and aggressiveness. The whole picture is so typical that the syndrome can easily be recognized. Cases of Münchhausen's syndrome by proxy (Meadow's syndrome) have been reported during the last few years; the condition concerns children suffering from diseases which are entirely due to their parents and can be compared with the battered child syndrome. In terms of nosology, among pathomimias Münchhausen's syndrome figures as a borderline state. Since it is impossible to establish positive relations with these patients, treatment fails in almost every case.

  13. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  14. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

    PubMed Central

    Phelan, K.; McDermid, H.E.

    2012-01-01

    The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors. PMID:22670140

  15. Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

    PubMed

    Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

    2017-06-01

    Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

  16. Neuroligins Provide Molecular Links Between Syndromic and Non-Syndromic Autism

    PubMed Central

    Singh, Sandeep K.; Eroglu, Cagla

    2014-01-01

    Autism is a common and heritable neuropsychiatric disorder that can be categorized into two types: syndromic and non-syndromic, the former of which are associated with other neurological disorders or syndromes. Molecular and functional links between syndromic and non-syndromic autism genes were lacking until studies aimed at understanding role of trans-synaptic adhesion molecule neuroligin, which is associated with non-syndromic autism, provided important connections. Here, we integrate data from these studies into a model of how neuroligin functions to control synaptic connectivity in the central nervous system and how neuroligin dysfunction may participate in the pathophysiology of autism. Understanding the complex functional interactions between neuroligins and other autism-associated proteins at the synapse is crucial to understand the pathology of autism. This understanding might bring us closer to development of therapeutic approaches for autism. PMID:23838185

  17. [Prevalence of metabolic syndrome components in patients with acute coronary syndromes].

    PubMed

    Zaliūnas, Remigijus; Slapikas, Rimvydas; Luksiene, Dalia; Slapikiene, Birute; Statkeviciene, Audrone; Milvidaite, Irena; Gustiene, Olivija

    2008-01-01

    Many studies report that the components of the metabolic syndrome--arterial hypertension, abdominal obesity, diabetes mellitus, and atherogenic dyslipidemia--are associated with an increased risk of cardiovascular disease. We investigated the prevalence of different components of the metabolic syndrome and frequency of their combinations and acute hyperglycemia among patients with acute coronary syndromes. The study population consisted of 2756 patients (1670 men and 1086 women with a mean age of 63.3+/-11.3 years) with acute coronary syndromes: Q-wave myocardial infarction was present in 41.8% of patients; non-Q-wave MI, in 30.7%; and unstable angina pectoris, in 27.5%. The metabolic syndrome was found in 59.6% of the patients according to modified NCEP III guidelines. One component of the metabolic syndrome was found in 13.5% of patients; two, in 23.0%; and none, in 3.9%. Less than one-third (29.2%) of the patients had three components of the metabolic syndrome, and 30.4% of the patients had four or five components. Arterial hypertension and abdominal obesity were the most common components of the metabolic syndrome (82.2% and 65.8%, respectively). Nearly half of the patients had hypertriglyceridemia and decreased level of high-density lipoprotein cholesterol (55.0% and 51.1%, respectively), and 23.9% of patients had diabetes mellitus. Acute hyperglycemia (> or =6.1 mmol/L) without known diabetes mellitus was found in 38.1% of cases. The combination of arterial hypertension and abdominal obesity was reported in 57.8% of patients in the case of combinations of two-five metabolic syndrome components. More than half of patients with acute coronary syndromes had three or more components of the metabolic syndrome, and arterial hypertension and abdominal obesity were the most prevalent components of the metabolic syndrome.

  18. Are Numerical Impairments Syndrome Specific? Evidence from Williams Syndrome and Down's Syndrome

    ERIC Educational Resources Information Center

    Paterson, Sarah J.; Girelli, Luisa; Butterworth, Brian; Karmiloff-Smith, Annette

    2006-01-01

    Background: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five…

  19. Reye syndrome - resources

    MedlinePlus

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  20. Toxic shock syndrome

    MedlinePlus

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  1. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    PubMed

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  2. Management of moyamoya syndrome in patients with Noonan syndrome.

    PubMed

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  3. Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

    PubMed

    Shah, D; Rasool, S

    2016-01-01

    By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities.

  4. Fat embolism syndrome.

    PubMed

    Stein, Paul D; Yaekoub, Abdo Y; Matta, Fadi; Kleerekoper, Michael

    2008-12-01

    To assess the incidence and risk factors for fat embolism syndrome. Data from the National Hospital Discharge Survey (NHDS) were analyzed using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. From 1979 through 2005 among 928,324,000 patients discharged from short-stay hospitals in the United States, 41,000 (0.004%) had fat embolism syndrome. Among 21,538,000 patients with an isolated fracture of the femur (any site), tibia, fibula, pelvis, ribs, humerus, radius, or ulna, 25,000 (0.12%) developed fat embolism syndrome. Patients with multiple fractures of the femur (excluding neck) more often had fat embolism syndrome than those with isolated fractures (1.29% versus 0.54%). The incidence of fat embolism syndrome was lower with isolated fractures of the tibia or fibula (0.30%) and even lower with isolated fractures of the neck of the femur (0.06%). The incidence of fat embolism was too low to calculate with isolated fractures of the pelvis, ribs, humerus, radius, or ulna. Nonorthopedic conditions rarely, if ever, were accompanied by fat embolism syndrome. The fat embolism syndrome was more frequent in men (relative risk 5.71). Children, aged 0 to 9 years rarely had fat embolism syndrome. The fat embolism syndrome most commonly affected patients aged 10 to 39 years. The incidence of the fat embolism syndrome depends on the bone involved, whether fractures are isolated or multiple, the age of the patient and the gender. It rarely occurs as a result of medical conditions.

  5. Dalitz plot analyses of J /ψ →π+π-π0, J /ψ →K+K-π0, and J /ψ →Ks0K±π∓ produced via e+e- annihilation with initial-state radiation

    NASA Astrophysics Data System (ADS)

    Lees, J. P.; Poireau, V.; Tisserand, V.; Grauges, E.; Palano, A.; Eigen, G.; Brown, D. N.; Kolomensky, Yu. G.; Fritsch, M.; Koch, H.; Schroeder, T.; Hearty, C.; Mattison, T. S.; McKenna, J. A.; So, R. Y.; Blinov, V. E.; Buzykaev, A. R.; Druzhinin, V. P.; Golubev, V. B.; Kravchenko, E. A.; Onuchin, A. P.; Serednyakov, S. I.; Skovpen, Yu. I.; Solodov, E. P.; Todyshev, K. Yu.; Lankford, A. J.; Gary, J. W.; Long, O.; Eisner, A. M.; Lockman, W. S.; Panduro Vazquez, W.; Chao, D. S.; Cheng, C. H.; Echenard, B.; Flood, K. T.; Hitlin, D. G.; Kim, J.; Miyashita, T. S.; Ongmongkolkul, P.; Porter, F. C.; Röhrken, M.; Huard, Z.; Meadows, B. T.; Pushpawela, B. G.; Sokoloff, M. D.; Sun, L.; Smith, J. G.; Wagner, S. R.; Bernard, D.; Verderi, M.; Bettoni, D.; Bozzi, C.; Calabrese, R.; Cibinetto, G.; Fioravanti, E.; Garzia, I.; Luppi, E.; Santoro, V.; Calcaterra, A.; de Sangro, R.; Finocchiaro, G.; Martellotti, S.; Patteri, P.; Peruzzi, I. M.; Piccolo, M.; Rotondo, M.; Zallo, A.; Passaggio, S.; Patrignani, C.; Lacker, H. M.; Bhuyan, B.; Szczepaniak, A. P.; Mallik, U.; Chen, C.; Cochran, J.; Prell, S.; Ahmed, H.; Pennington, M. R.; Gritsan, A. V.; Arnaud, N.; Davier, M.; Le Diberder, F.; Lutz, A. M.; Wormser, G.; Lange, D. J.; Wright, D. M.; Coleman, J. P.; Gabathuler, E.; Hutchcroft, D. E.; Payne, D. J.; Touramanis, C.; Bevan, A. J.; Di Lodovico, F.; Sacco, R.; Cowan, G.; Banerjee, Sw.; Brown, D. N.; Davis, C. L.; Denig, A. G.; Gradl, W.; Griessinger, K.; Hafner, A.; Schubert, K. R.; Barlow, R. J.; Lafferty, G. D.; Cenci, R.; Jawahery, A.; Roberts, D. A.; Cowan, R.; Robertson, S. H.; Dey, B.; Neri, N.; Palombo, F.; Cheaib, R.; Cremaldi, L.; Godang, R.; Summers, D. J.; Taras, P.; De Nardo, G.; Sciacca, C.; Raven, G.; Jessop, C. P.; LoSecco, J. M.; Honscheid, K.; Kass, R.; Gaz, A.; Margoni, M.; Posocco, M.; Simi, G.; Simonetto, F.; Stroili, R.; Akar, S.; Ben-Haim, E.; Bomben, M.; Bonneaud, G. R.; Calderini, G.; Chauveau, J.; Marchiori, G.; Ocariz, J.; Biasini, M.; Manoni, E.; Rossi, A.; Batignani, G.; Bettarini, S.; Carpinelli, M.; Casarosa, G.; Chrzaszcz, M.; Forti, F.; Giorgi, M. A.; Lusiani, A.; Oberhof, B.; Paoloni, E.; Rama, M.; Rizzo, G.; Walsh, J. J.; Smith, A. J. S.; Anulli, F.; Faccini, R.; Ferrarotto, F.; Ferroni, F.; Pilloni, A.; Piredda, G.; Bünger, C.; Dittrich, S.; Grünberg, O.; Heß, M.; Leddig, T.; Voß, C.; Waldi, R.; Adye, T.; Wilson, F. F.; Emery, S.; Vasseur, G.; Aston, D.; Cartaro, C.; Convery, M. R.; Dorfan, J.; Dunwoodie, W.; Ebert, M.; Field, R. C.; Fulsom, B. G.; Graham, M. T.; Hast, C.; Innes, W. R.; Kim, P.; Leith, D. W. G. S.; Luitz, S.; MacFarlane, D. B.; Muller, D. R.; Neal, H.; Ratcliff, B. N.; Roodman, A.; Sullivan, M. K.; Va'vra, J.; Wisniewski, W. J.; Purohit, M. V.; Wilson, J. R.; Randle-Conde, A.; Sekula, S. J.; Bellis, M.; Burchat, P. R.; Puccio, E. M. T.; Alam, M. S.; Ernst, J. A.; Gorodeisky, R.; Guttman, N.; Peimer, D. R.; Soffer, A.; Spanier, S. M.; Ritchie, J. L.; Schwitters, R. F.; Izen, J. M.; Lou, X. C.; Bianchi, F.; De Mori, F.; Filippi, A.; Gamba, D.; Lanceri, L.; Vitale, L.; Martinez-Vidal, F.; Oyanguren, A.; Albert, J.; Beaulieu, A.; Bernlochner, F. U.; King, G. J.; Kowalewski, R.; Lueck, T.; Nugent, I. M.; Roney, J. M.; Sobie, R. J.; Tasneem, N.; Gershon, T. J.; Harrison, P. F.; Latham, T. E.; Prepost, R.; Wu, S. L.; BaBar Collaboration

    2017-04-01

    We study the processes e+e- →γISRJ /ψ , where J /ψ →π+π-π0, J /ψ →K+K-π0, and J /ψ →KS0K±π∓ using a data sample of 519 fb-1 recorded with the BABAR detector operating at the SLAC PEP-II asymmetric-energy e+e- collider at center-of-mass energies at and near the Υ (n S ) (n =2 ,3 ,4 ) resonances. We measure the ratio of branching fractions R1=B/(J /ψ →K+K-π0) B (J /ψ →π+π-π0) and R2=B/(J /ψ →KS0K±π∓) B (J /ψ →π+π-π0) . We perform Dalitz plot analyses of the three J /ψ decay modes and measure fractions for resonances contributing to the decays. We also analyze the J /ψ →π+π-π0 decay using the Veneziano model. We observe structures compatible with the presence of ρ (1450 ) in all three J /ψ decay modes and measure the relative branching fraction: R (ρ (1450 ))=B/(ρ (1450 )→K+K-) B (ρ (1450 )→π+π-) =0.307 ±0.084 (stat)±0.082 (sys).

  6. VVV high proper motion stars - I. The catalogue of bright KS ≤ 13.5 stars

    NASA Astrophysics Data System (ADS)

    Kurtev, R.; Gromadzki, M.; Beamín, J. C.; Folkes, S. L.; Pena Ramirez, K.; Ivanov, V. D.; Borissova, J.; Villanueva, V.; Minniti, D.; Mendez, R.; Lucas, P. W.; Smith, L. C.; Pinfield, D. J.; Kuhn, M. A.; Jones, H. R. A.; Antonova, A.; Yip, A. K. P.

    2017-01-01

    Knowledge of the stellar content near the Sun is important for a broad range of topics ranging from the search for planets to the study of Milky Way (MW) structure. The most powerful method for identifying potentially nearby stars is proper motion (PM) surveys. All old optical surveys avoid, or are at least substantially incomplete, near the Galactic plane. The depth and breadth of the `VISTA Variables in Vía Láctea' (VVV) near-IR survey significantly improves this situation. Taking advantage of the VVV survey data base, we have measured PMs in the densest regions of the MW bulge and southern plane in order to complete the census of nearby objects. We have developed a custom PM pipeline based on VVV catalogues from the Cambridge Astronomy Survey Unit, by comparing the first epoch of JHKS with the multi-epoch KS bands acquired later. Taking advantage of the large time baseline between the Two Micron All Sky Survey (2MASS) and the VVV observations, we also obtained 2MASS-VVV PMs. We present a near-IR PM catalogue for the whole area of the VVV survey, which includes 3003 moving stellar sources. All of these have been visually inspected and are real PM objects. Our catalogue is in very good agreement with the PM data supplied in IR catalogues outside the densest zone of the MW. The majority of the PM objects in our catalogue are nearby M-dwarfs, as expected. This new data base allows us to identify 57 common PM binary candidates, among which are two new systems within 30 pc of the Sun.

  7. Hantavirus pulmonary syndrome.

    PubMed

    Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

    2010-03-01

    Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

  8. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  9. What Is Antiphospholipid Antibody Syndrome?

    MedlinePlus

    ... or rheumatic (ru-MAT-ik) disorders, such as lupus . ("Rheumatic" refers to disorders that affect the joints, ... aCL syndrome Antiphospholipid syndrome aPL syndrome Hughes syndrome Lupus anticoagulant syndrome Causes Antiphospholipid antibody syndrome (APS) occurs ...

  10. Proteus syndrome*

    PubMed Central

    Rocha, Ritha de Cássia Capelato; Estrella, Mariani Paulino Soriano; do Amaral, Danielle Mechereffe; Barbosa, Angela Marques; de Abreu, Marilda Aparecida Milanez Morgado

    2017-01-01

    Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations. PMID:29166516

  11. Gorlin syndrome.

    PubMed

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  12. Fluency disorders in genetic syndromes.

    PubMed

    Van Borsel, John; Tetnowski, John A

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large). An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings. The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.

  13. Learning about WAGR Syndrome

    MedlinePlus

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  14. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  15. Toxic Shock Syndrome

    MedlinePlus

    ... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also be ... a skin or wound infection. Causes Most commonly, Staphylococcus aureus (staph) bacteria cause toxic shock syndrome. The syndrome ...

  16. Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

    PubMed Central

    Vizeneux, Audrey; Hilfiger, Aude; Bouligand, Jérôme; Pouillot, Monique; Brailly-Tabard, Sylvie; Bashamboo, Anu; McElreavey, Ken; Brauner, Raja

    2013-01-01

    Background The majority of the patients reported with mutations in isolated hypogonadotropic hypogonadism (HH) are adults. We analysed the presentation and the plasma inhibin B and anti-müllerian hormone (AMH) concentrations during childhood and adolescence, and compared them to the genetic results. Methods This was a retrospective, single-center study of 46 boys with HH. Results Fourteen (30.4%) had Kallmann syndrome (KS), 4 (8.7%) had CHARGE syndrome and 28 (60.9%) had HH without olfaction deficit nor olfactive bulb hypoplasia. Eighteen (39%) had an associated malformation or syndromes. At diagnosis, 22 (47.8%) boys were aged KS including one CHARGE and 5 other HH), at the lower limit of the normal in 6 and decreased in 13 (48%) boys. The AMH concentrations were normal in 15 (6 KS including one CHARGE and 9 other HH) and decreased in 12 (44%) boys. In addition to the CHD7 gene mutations in 4 patients with CHARGE, mutations were found in 5/26 other boys analysed including one in KAL1 gene with STS, 2 in FGFR1 gene, one in PROKR2 gene and one in GnRHR gene. Conclusions The presence of micropenis in neonate, particularly if associated with cryptorchidism, is an indication to look for gonadotropin deficiency isolated or associated with other hypothalamic-pituitary deficiencies. Inhibin B and AMH concentrations are suggestive if low, but they may be normal. Despite the high frequency of the associated malformations and excluding the patients with CHARGE or ichtyosis, the 4 patients with mutations had no family history or malformation. This suggests that many other genes are involved. PMID:24204987

  17. Turner Syndrome: Other FAQs

    MedlinePlus

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  18. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  19. Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

    PubMed

    Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

    2014-08-01

    Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  20. National Down Syndrome Society

    MedlinePlus

    ... individuals with Down syndrome. Help us fix the law and end #LawSyndrome. Law Syndrome affects 100% of people with Down syndrome. It’s a series of antiquated laws that impede the pursuit of a career or ...

  1. Angelman Syndrome: Genetic Mechanisms and Relationship to Prader-Willi Syndrome.

    ERIC Educational Resources Information Center

    Smith, Arabella

    1994-01-01

    Research points to two distinct regions within the Prader-Willi chromosome region: one for Prader Willi syndrome and one for Angelman syndrome. Genetic mechanisms in Angelman syndrome are complex, and at present, three mechanisms are recognized: maternal deletion, paternal uniparental disomy, and a nondeleted nondisomic form. (Author/JDD)

  2. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome.

    PubMed

    Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

    2014-12-26

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

  3. ["Refuse hoarding syndrome"].

    PubMed

    Jürgens, A

    2000-01-01

    The "litter hoarding syndrome" is described only occasionally during the past decades. It seems to be rather unknown in the psychiatric literature. In the course of the syndrome the patients gather more and more litter in their homes until it becomes unhabitable. Physicians and social psychiatric services are often confronted with this manifestation of a psychiatric illness. Because of the dramatic development, the extent and the specific circumstances this paper reports case of a young female patient with the litter hoarding syndrome. The term "litter hoarding syndrome" was first coined by Dettmering [3] during a lecture on 25.1.1984 in the Psychiatric Clinic of the Eppendorf University Hospital in Hamburg. In 1985 Klosterkötter et al. [7] described the "diogenes syndrome" which offered some nosological similarities. With the exception of this publications an the PhD thesis by Pastenaci [11] only a few reports have been published during the last 28 years throughout the world and no epidemiological data about the syndrome can be found. Based on this case some ideas about differential diagnosis and syndrome classification shall be presented.

  4. Psychological Well-Being of Mothers of Youth with Fragile X Syndrome: Syndrome Specificity and within-Syndrome Variability

    ERIC Educational Resources Information Center

    Lewis, P.; Abbeduto, L.; Murphy, M.; Richmond, E.; Giles, N.; Bruno, L.; Schroeder, S.; Anderson, J.; Orsmond, G.

    2006-01-01

    Background: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet…

  5. CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.

    PubMed

    Turan, Ihsan; Hutchins, B Ian; Hacihamdioglu, Bulent; Kotan, L Damla; Gurbuz, Fatih; Ulubay, Ayca; Mengen, Eda; Yuksel, Bilgin; Wray, Susan; Topaloglu, A Kemal

    2017-06-01

    Gonadotropin-releasing hormone neurons originate outside the central nervous system in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS. Using autozygosity mapping, candidate gene screening, whole-exome sequencing, and Sanger sequencing, those individuals carrying deleterious CDCD141 variants and their phenotypes were determined in a cohort of 120 IHH/KS families. No interventions were made. Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. Affected individuals (with the exception of those from family 1 who concomitantly have FEZF1 mutations) have normal olfactory function and anatomically normal olfactory bulbs. Four affected individuals show evidence of clinical reversibility. In three of the families, there was at least one more potentially deleterious variant in other known puberty genes with evidence of allelic heterogeneity within respective pedigrees. These studies confirm that inactivating CCDC141 variants cause normosmic IHH but not KS. This is consistent with our previous in vitro experiments showing exclusively impaired embryonic migration of GnRH neurons upon CCDC141 knockdown. These studies expand the clinical and genetic spectrum of IHH and also attest to the complexity of phenotype and genotype in IHH. Copyright © 2017 by the Endocrine Society

  6. Evaluation of breast enlargement in young males and factors associated with gynecomastia and pseudogynecomastia.

    PubMed

    Yazici, M; Sahin, M; Bolu, E; Gok, D E; Taslipinar, A; Tapan, S; Torun, D; Uckaya, G; Kutlu, M

    2010-12-01

    Gynecomastia is defined as a palpable enlargement of the mammary gland in males that is distinguishable from lipomastia. The aim of this study was to assess the prevalence and characteristics of different causes of breast enlargement in young males referred to our tertiary center, and evaluation of the factors associated with gynaecomastia. One hundred thirty-five male recruits aged 20-30 years were enrolled in the study. A control group comprising 32 age-matched healthy individuals aged 20-25 years was also studied. Idiopathic gynecomastia (IG) was diagnosed in 31 of 135 patients (23%) and Klinefelter' syndrome (KS) was diagnosed in 70 cases (52%). Patients with KS had significantly higher body mass index (BMI) and waist and hip circumference waist/hip ratio than the control group. FSH, LH and SHBG were significantly higher and DHEAS, free testosterone (fT) and total testosterone (tT) were lower in patients with KS than the control group. Anthropometric measurements revealed significant increase in body weight and BMI in patients with IG compared with healthy controls. FSH and LH levels were significantly higher in the patients with IG. Patients with pseudogynecomastia alone were not obese and hypogonadism was observed in 35.1% of patients. We concluded that gynaecomastia in young adult males is mostly because of KS or idiopathic in origin. IG seems to be the result of androgen resistance and in part increased aromatization because of increased adiposity. Symptoms or findings for hypogonadism must be evaluated carefully in patients with pseudogynecomastia. We also suggest that the presence of both gynecomastia and azoospermia necessitate further karyotypic analyses for KS.

  7. Gorlin-Goltz Syndrome

    PubMed Central

    Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.

    2012-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

  8. Burning mouth syndrome.

    PubMed

    Crow, Heidi C; Gonzalez, Yoly

    2013-02-01

    Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. Copyright © 2013. Published by Elsevier Inc.

  9. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

    PubMed Central

    Kiran, N. K.; Tilak Raj, T. N.; Mukunda, K. S.; Rajashekar Reddy, V.

    2012-01-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

  10. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    PubMed

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  11. [Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome].

    PubMed

    Kasten, Robert; Pfirrmann, Gudrun; Voigtländer, Volker

    2005-08-01

    A 43-year-old male with eunuchoid body proportions and a history of deep venous thromboses in the right leg presented with recurrent ulcers in the right perimalleolar region for 6 years. Karyotyping revealed a 47 XXY Klinefelter's syndrome, while serologic testing showed protein S deficiency, hyperhomocysteinemia and positive lupus anticoagulant. He also had mixed connective tissue disease (Sharp's syndrome) with acrosclerosis, proximal finger edema, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis. There is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels. Substitution of testosterone in Klinefelter's syndrome can have a favorable therapeutic effect on the associated connective tissue disease, thrombophilia and osteoporosis.

  12. Turner Syndrome (For Teens)

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  13. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... repeated several times in one area of the X chromosome. The more repeats, the more likely the ...

  14. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    PubMed

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  15. Measuring illness insight in patients with alcohol-related cognitive dysfunction using the Q8 questionnaire: a validation study

    PubMed Central

    Walvoort, Serge JW; van der Heijden, Paul T; Kessels, Roy PC; Egger, Jos IM

    2016-01-01

    Aim Impaired illness insight may hamper treatment outcome in patients with alcohol-related cognitive deficits. In this study, a short questionnaire for the assessment of illness insight (eg, the Q8) was investigated in patients with Korsakoff’s syndrome (KS) and in alcohol use disorder (AUD) patients with mild neurocognitive deficits. Methods First, reliability coefficients were computed and internal structure was investigated. Then, comparisons were made between patients with KS and patients with AUD. Furthermore, correlations with the Dysexecutive Questionnaire (DEX) were investigated. Finally, Q8 total scores were correlated with neuropsychological tests for processing speed, memory, and executive function. Results Internal consistency of the Q8 was acceptable (ie, Cronbach’s α =0.73). The Q8 items represent one factor, and scores differ significantly between AUD and KS patients. The Q8 total score, related to the DEX discrepancy score and scores on neuropsychological tests as was hypothesized, indicates that a higher degree of illness insight is associated with a higher level of cognitive functioning. Conclusion The Q8 is a short, valid, and easy-to-administer questionnaire to reliably assess illness insight in patients with moderate-to-severe alcohol-related cognitive dysfunction. PMID:27445476

  16. Genetics Home Reference: Alagille syndrome

    MedlinePlus

    ... my area? Other Names for This Condition Alagille-Watson Syndrome Alagille's syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome ... hypoplasia hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts Watson-Miller syndrome Related Information How are genetic conditions ...

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

    PubMed

    Verhoeven, W M A; de Vries, B B A; 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 phenotype. Virtually no information is available on the behavioral and psychopathological phenotype in this combination. The latter may be explained by the observation that psychiatric syndromes are especially prevalent in PWS patients with a UPD. It is concluded that instability in mood and behavior in this and other syndromes should be preferentially treated with mood stabilizing agents. Copyright (c) 2007 S. Karger AG, Basel.

  18. Could metabolic syndrome, lipodystrophy, and aging be mesenchymal stem cell exhaustion syndromes?

    PubMed

    Mansilla, Eduardo; Díaz Aquino, Vanina; Zambón, Daniel; Marin, Gustavo Horacio; Mártire, Karina; Roque, Gustavo; Ichim, Thomas; Riordan, Neil H; Patel, Amit; Sturla, Flavio; Larsen, Gustavo; Spretz, Rubén; Núñez, Luis; Soratti, Carlos; Ibar, Ricardo; van Leeuwen, Michiel; Tau, José María; Drago, Hugo; Maceira, Alberto

    2011-01-01

    One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES). The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs) pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

  19. Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

    PubMed Central

    Mansilla, Eduardo; Díaz Aquino, Vanina; Zambón, Daniel; Marin, Gustavo Horacio; Mártire, Karina; Roque, Gustavo; Ichim, Thomas; Riordan, Neil H.; Patel, Amit; Sturla, Flavio; Larsen, Gustavo; Spretz, Rubén; Núñez, Luis; Soratti, Carlos; Ibar, Ricardo; van Leeuwen, Michiel; Tau, José María; Drago, Hugo; Maceira, Alberto

    2011-01-01

    One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES). The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs) pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies. PMID:21716667

  20. Piriformis syndrome

    MedlinePlus

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  1. Is the metabolic syndrome a "small baby" syndrome?: the bogalusa heart study.

    PubMed

    Harville, Emily W; Srinivasan, Sathanur; Chen, Wei; Berenson, Gerald S

    2012-12-01

    Metabolic syndrome has been called a "small baby syndrome," but other analyses suggest that postnatal growth is more important than birthweight, or that large babies are also at risk. The aim of this analysis was to examine whether there was a relationship between both low and high birthweight and metabolic syndrome, using multiple definitions of metabolic syndrome, and to determine whether this relationship varied by body size across the life course. Data from the Bogalusa Heart Study, a study of cardiovascular disease in children and young adults, were linked to birth certificate data. Metabolic syndrome was defined by the National Cholesterol Education Program, the International Diabetes Foundation, and the World Health Organization (WHO) definition. Small-for-gestational-age (SGA) was defined as birthweight <10(th) percentile by sex for gestational age and large-for-gestational-age (LGA) as birthweight >90(th) percentile. Birthweight-for-gestational-age was also examined as a continuous predictor. Chi-squared tests and logistic regression were used to examine the relationship between birth size and metabolic syndrome. Higher birthweight-for-gestational-age was associated with a reduced risk of metabolic syndrome, especially by the WHO definition. After adjustment for body mass index (BMI), categorized birthweight was associated with metabolic syndrome, with the protective associations with LGA being stronger than the positive associations with SGA. Among the individual components of metabolic syndrome, higher waist circumference was associated with both SGA and LGA after BMI was controlled for. Effects of SGA and BMI at any age were largely independent rather than interactive. SGA is associated with some, but not all, components of metabolic syndrome. The relationship between SGA and metabolic syndrome is partially confounded by later BMI.

  2. Felty syndrome

    MedlinePlus

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  3. Unusual headache syndromes.

    PubMed

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  4. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    PubMed

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  5. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    PubMed Central

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-01-01

    Background Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). Objective To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp’s Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Results Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital. PMID:25517388

  6. Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.

    PubMed

    Ye, Xin Cynthia; Ng, Isaiah; Seid-Karbasi, Puya; Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby; Wasserman, Wyeth W

    2013-08-06

    The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome, Cat Eye syndrome, Kabuki syndrome

  7. Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers

    PubMed Central

    Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby

    2013-01-01

    , Cat Eye syndrome, Kabuki syndrome, Leigh syndrome, Peters anomaly, and Rothmund-Thomson syndrome. The editor progress score was used to measure performance for a portion of sites. Conclusions The PFOND system provides a convenient and structured Internet resource for the facilitated creation of information resources for families confronted by rare disorders. The system empowers volunteers to participate in the creation of quality content, while allowing for the inevitable turnover of contributors over time. The next phase of PFOND development will focus on volunteer participation in system development and community engagement. PMID:23920006

  8. Dermatoglyphics in kidney diseases: a review.

    PubMed

    Wijerathne, Buddhika T B; Meier, Robert J; Salgado, Sujatha S; Agampodi, Suneth B

    2016-01-01

    Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases. The aim of this review was to systematically identify, review and appraise available literature that evaluated an association of different dermatoglyphic variables with kidney diseases. This review is reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. The PubMed(®) (Medline), POPLINE, Cochrane Library and Trip Database and grey literature sources such as OpenGrey, Google Scholar, and Google were searched to earliest date to 17 April 2014. Of the 36 relevant publications, 15 were included in the review. Of these studies, there are five case reports, seven case series and three comparative studies. Possible association of dermatoglyphics with Wilms tumor (WT) had been evaluated in two comparative studies and one case series that found fewer whorls and a lower mean total ridge count (TRC). Another study evaluated adult polycystic kidney disease (APCD) type III that revealed lower TRC means in all cases. All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, syndactyly type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia. It is evident that whorl pattern frequency and TRC have been used widely to investigate the uncertainty related to the origin of several kidney diseases such as WT and APCD type III. However, small sample sizes

  9. Gorlin-goltz syndrome.

    PubMed

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

    2014-03-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  10. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    PubMed

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  11. Angelman Syndrome

    MedlinePlus

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ...

  12. Myelodysplastic Syndromes

    MedlinePlus

    ... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

  13. Reye syndrome

    MedlinePlus

    ... syndrome has occurred in children who were given aspirin when they had chickenpox or the flu. Reye syndrome has become very rare. This is because aspirin is no longer recommended for routine use in ...

  14. Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype.

    PubMed

    Jalbut, Marla M; Sohani, Aliyah R; Dal Cin, Paola; Hasserjian, Robert P; Moran, Jenna A; Brunner, Andrew M; Fathi, Amir T

    2015-01-01

    Klinefelter syndrome (KS), a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML) with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

  15. The Disuse Syndrome

    PubMed Central

    Bortz II, Walter M.

    1984-01-01

    Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

  16. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  17. Evidence for formation of KS0p resonances with masses near 1532, 1578, and 1659 MeV in neutrino interactions with nuclei

    NASA Astrophysics Data System (ADS)

    Asratyan, A. E.; Dolgolenko, A. G.; Kubantsev, M. A.

    2005-05-01

    Three baryon resonances with masses of 1532.2±1.3, 1577.7±1.9, and 1658.6±4.4MeV are observed in invariant mass of the KS0p system formed in neutrino and antineutrino collisions with deuterons and neon nuclei. Observed widths of the 1532-MeV and 1578-MeV resonances are consistent with being entirely due to apparatus smearing, and their intrinsic widths are restricted to Γ<12 and 23 MeV, respectively. For the 1659-MeV resonance, the data suggest a nonvanishing intrinsic width of Γ˜20MeV. Significance levels of the three signals are near 7.1 σ, 5.0 σ, and 4.5 σ, respectively. The Σ hypothesis for either of these three resonances is disfavored by the data on associated Λ hyperons and on formation of the Λ π system. These resonant states are tentatively interpreted as the recently discovered pentaquark baryon Θ(1530) and its spin/isospin partners. The analysis is based on neutrino data collected by past bubble-chamber experiments.

  18. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    PubMed

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  19. Clinical Manifestations of Kaposi Sarcoma Herpesvirus Lytic Activation: Multicentric Castleman Disease (KSHV–MCD) and the KSHV Inflammatory Cytokine Syndrome

    PubMed Central

    Polizzotto, Mark N.; Uldrick, Thomas S.; Hu, Duosha; Yarchoan, Robert

    2012-01-01

    Soon after the discovery of Kaposi sarcoma (KS)-associated herpesvirus (KSHV), it was appreciated that this virus was associated with most cases of multicentric Castleman disease (MCD) arising in patients infected with human immunodeficiency virus. It has subsequently been recognized that KSHV–MCD is a distinct entity from other forms of MCD. Like MCD that is unrelated to KSHV, the clinical presentation of KSHV–MCD is dominated by systemic inflammatory symptoms including fevers, cachexia, and laboratory abnormalities including cytopenias, hypoalbuminemia, hyponatremia, and elevated C-reactive protein. Pathologically KSHV–MCD is characterized by polyclonal, IgM-lambda restricted plasmacytoid cells in the intrafollicular areas of affected lymph nodes. A portion of these cells are infected with KSHV and a sizable subset of these cells express KSHV lytic genes including a viral homolog of interleukin-6 (vIL-6). Patients with KSHV–MCD generally have elevated KSHV viral loads in their peripheral blood. Production of vIL-6 and induction of human (h) IL-6 both contribute to symptoms, perhaps in combination with overproduction of IL-10 and other cytokines. Until recently, the prognosis of patients with KSHV–MCD was poor. Recent therapeutic advances targeting KSHV-infected B cells with the anti-CD20 monoclonal antibody rituximab and utilizing KSHV enzymes to target KSHV-infected cells have substantially improved patient outcomes. Recently another KSHV-associated condition, the KSHV inflammatory cytokine syndrome (KICS) has been described. Its clinical manifestations resemble those of KSHV–MCD but lymphadenopathy is not prominent and the pathologic nodal changes of KSHV–MCD are absent. Patients with KICS exhibit elevated KSHV viral loads and elevation of vIL-6, homolog of human interleukin-6 and IL-10 comparable to those seen in KSHV–MCD; the cellular origin of these is a matter of investigation. KICS may contribute to the inflammatory symptoms seen in some

  20. Clinical Manifestations of Kaposi Sarcoma Herpesvirus Lytic Activation: Multicentric Castleman Disease (KSHV-MCD) and the KSHV Inflammatory Cytokine Syndrome.

    PubMed

    Polizzotto, Mark N; Uldrick, Thomas S; Hu, Duosha; Yarchoan, Robert

    2012-01-01

    Soon after the discovery of Kaposi sarcoma (KS)-associated herpesvirus (KSHV), it was appreciated that this virus was associated with most cases of multicentric Castleman disease (MCD) arising in patients infected with human immunodeficiency virus. It has subsequently been recognized that KSHV-MCD is a distinct entity from other forms of MCD. Like MCD that is unrelated to KSHV, the clinical presentation of KSHV-MCD is dominated by systemic inflammatory symptoms including fevers, cachexia, and laboratory abnormalities including cytopenias, hypoalbuminemia, hyponatremia, and elevated C-reactive protein. Pathologically KSHV-MCD is characterized by polyclonal, IgM-lambda restricted plasmacytoid cells in the intrafollicular areas of affected lymph nodes. A portion of these cells are infected with KSHV and a sizable subset of these cells express KSHV lytic genes including a viral homolog of interleukin-6 (vIL-6). Patients with KSHV-MCD generally have elevated KSHV viral loads in their peripheral blood. Production of vIL-6 and induction of human (h) IL-6 both contribute to symptoms, perhaps in combination with overproduction of IL-10 and other cytokines. Until recently, the prognosis of patients with KSHV-MCD was poor. Recent therapeutic advances targeting KSHV-infected B cells with the anti-CD20 monoclonal antibody rituximab and utilizing KSHV enzymes to target KSHV-infected cells have substantially improved patient outcomes. Recently another KSHV-associated condition, the KSHV inflammatory cytokine syndrome (KICS) has been described. Its clinical manifestations resemble those of KSHV-MCD but lymphadenopathy is not prominent and the pathologic nodal changes of KSHV-MCD are absent. Patients with KICS exhibit elevated KSHV viral loads and elevation of vIL-6, homolog of human interleukin-6 and IL-10 comparable to those seen in KSHV-MCD; the cellular origin of these is a matter of investigation. KICS may contribute to the inflammatory symptoms seen in some patients with

  1. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    PubMed

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Myelodysplastic Syndromes

    MedlinePlus

    ... such as tobacco, benzene and pesticides, or to heavy metals, such as lead. Types of myelodysplastic syndromes The ... and industrial chemicals, such as benzene. Exposure to heavy metals. Heavy metals linked to myelodysplastic syndromes include lead ...

  3. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  4. Cushing's Syndrome

    MedlinePlus

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  5. Usher Syndrome

    MedlinePlus

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  6. Reye Syndrome

    MedlinePlus

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  7. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  8. Mixed gynecomastia

    PubMed Central

    Qassabi, Salim S. Al; Al-Harthi, Saud M.; Al-Osali, Magdi E.

    2015-01-01

    Gynecomastia is an enlargement of male breast resulting from a proliferation of its glandular component, and it is usually due to an altered estrogen-androgen balance. It should be differentiated from pseudogynecomastia, which is characterized by fat deposition without glandular proliferation and from breast carcinoma. Gynecomastia could be physiological in neonates and pubertal or pathological due to drug intake, chronic liver, or renal disease, hyperthyroidism, testicular or adrenal neoplasms, and hypogonadism whether primary, or secondary. Properly organized work-up is needed to reach the cause of gynecomastia. Here, we reported a case of a young Omani man with gynecomastia with the aim of creating awareness of the occurrence of Klinefelter’s syndrome (KS) in patients with gynecomastia, to observe any differences in clinical presentation of KS from those reported in the literature, and highlight the needed diagnostic work-up and treatment. PMID:26318471

  9. Mixed gynecomastia.

    PubMed

    Al Qassabi, Salim S; Al-Harthi, Saud M; Al-Osali, Magdi E

    2015-09-01

    Gynecomastia is an enlargement of male breast resulting from a proliferation of its glandular component, and it is usually due to an altered estrogen-androgen balance. It should be differentiated from pseudogynecomastia, which is characterized by fat deposition without glandular proliferation and from breast carcinoma. Gynecomastia could be physiological in neonates and pubertal or pathological due to drug intake, chronic liver, or renal disease, hyperthyroidism, testicular or adrenal neoplasms, and hypogonadism whether primary, or secondary. Properly organized work-up is needed to reach the cause of gynecomastia. Here, we reported a case of a young Omani man with gynecomastia with the aim of creating awareness of the occurrence of Klinefelter's syndrome (KS) in patients with gynecomastia, to observe any differences in clinical presentation of KS from those reported in the literature, and highlight the needed diagnostic work-up and treatment.

  10. Aicardi Syndrome

    MedlinePlus

    ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org http://www.aicardisyndrome. ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org ...

  11. A new familial intrauterine growth retardation syndrome the "3-M syndrome".

    PubMed

    Spranger, J; Opitz, J M; Nourmand, A

    1976-09-01

    Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

  12. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    PubMed

    Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

    2008-12-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

  13. Zellweger Syndrome

    MedlinePlus

    ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  14. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    PubMed

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

  15. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

    PubMed

    Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

    2018-03-05

    To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

  16. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    PubMed

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-11-01

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  17. Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

    PubMed

    Mull, Jamie L; Madden, Lisa M; Bayliss, Susan J

    2016-07-01

    We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear. © 2016 Wiley Periodicals, Inc.

  18. Mirror Syndrome assocciated with Patau Syndrome: A Case Report.

    PubMed

    Pais, Ana Sofia; Areia, Ana Luísa Fialho Amaral de; Franco, Sofia Margarida Perienes; Fonseca, Etelvina Morais Ferreira; Moura, José Paulo Achando Silva

    2018-05-16

    Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome. Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil.

  19. Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.

    PubMed

    Akbari, Maryam; Chen, Harold; Guo, Grace; Legan, Zachary; Ghali, Ghali

    2018-01-31

    In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research. Furthermore, the FDA approved Hedgehog pathway inhibitors Vismodegib and Sonidegib designed for advanced basal cell carcinoma have opened a new door for treatment that may ultimately decrease the number of surgeries for a patient with Gorlin syndrome. The role of these agents in syndromic odontogenic keratocyst has not been studied extensively, but one study found that hedgehog pathway inhibitors decrease the size of syndromic odontogenic keratocyst. Ideal surgical treatment that balances low recurrence rates with low impact on one's quality of life for syndromic odontogenic keratocyst is another unanswered question for oral and maxillofacial surgeons. Per survey studies, treatment options practiced for syndromic odontogenic keratocyst range from marsupialization to segmental osteotomy. Future studies performed should take a comprehensive long-term approach with at least three years of follow-up in order to determine the most appropriate treatment. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. Drug-Induced Hematologic Syndromes

    PubMed Central

    Mintzer, David M.; Billet, Shira N.; Chmielewski, Lauren

    2009-01-01

    Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications. PMID:19960059