Goh, Elaine Suk-Ying; Li, Chumei; Horsburgh, Sheri; Kasai, Yumi; Kolomietz, Elena; Morel, Chantal France
2010-02-01
Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow-up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented. Copyright 2010 Wiley-Liss, Inc.
Subhani, Muhammad; Akangire, Gangaram; Kulkarni, Archana; Wilson, Golder N
2009-07-01
We describe a girl infant with anomalies of the left pelvis and lower limb (pelvic, femoral, and tibial hypogenesis with absent fibula), subtle facial changes, patent foraman ovale, single umbilical artery, single kidney, and imperforate anus. The external genitalia were asymmetric and ambiguous with normal uterus and ovaries visualized by ultrasound. The anomalies are compatible with previously reported cases of Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia, an autosomal recessive disorder with WNT7 gene mutations documented in one family. We suggest that AARRS phocomelia, Fuhrmann syndrome, and similar conditions comprise a spectrum, and that the anomaly pattern derives from serial action of the same signal pathways within primary (e.g., the major axes), secondary (e.g., heart or limb primordia), and/or local (e.g., tibial-fibular differentiation) developmental fields.
DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).
Bamforth, J S; Lin, C C
1997-12-31
DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).
AlQattan, Mohammad M; AlAbdulkareem, Ibrahim; Ballow, Mariam; Al Balwi, Mohammed
2013-09-15
Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries. Copyright © 2013 Elsevier B.V. All rights reserved.
Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D; Canfield, Mark A; Castilla, Eduardo E; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa
2011-11-15
Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. Copyright © 2011 Wiley Periodicals, Inc.
Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D.; Canfield, Mark A.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa
2015-01-01
Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52–0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. PMID:22002800
Tetra-phocomelia: a rarest of rare case.
Shukla, Anil Kumar; Sanjay, S C; Krishna, L; Krishnappa, N
2015-03-01
We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported.
Tetra-Phocomelia: A Rarest of Rare Case
Sanjay, S.C.; Krishna, L.; Krishnappa, N.
2015-01-01
We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported. PMID:25954680
Phocomelia: Report of Three Cases
Coodin, Fischel J.; Uchida, Irene A.; Murphy, Claude H.
1962-01-01
Three infants were born with phocomelia in Winnipeg during the period from May 1961 to May 1962. In one case thalidomide had been administered to the mother early in the pregnancy. No etiological agent was discovered in the other two, both of whom died. Known teratogenic agents capable of causing phocomelia are reviewed, but no clear association with the two cases described in this report is evident. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:14022756
Phocomelia: Case report and differential diagnosis.
Osadsky, Captain Rasto
2011-01-01
While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proximal humerus, hypoplasia of the clavicle and scapula, and absence of the radial ray and thumb. A hypoplastic left thumb was also present. Other anomalies included thoracic scoliosis, upper thoracic hemivertebrae, and mild cardiomegaly. The differential diagnosis and likely diagnosis are discussed.
Murray, R S; Keeling, J W; Ellis, P M; FitzPatrick, D R
2002-04-01
We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower limb phocomelia. No additional major malformations were identified on postmortem examination. In particular there was no evidence of splenogonadal fusion or micrognathia and hypoglossia. The limb malformations in this case are associated with a de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1). The cytogenetic features of Roberts-SC phocomelia syndrome were not detected. Unfortunately, the fibroblast line died and no FISH or DNA analysis could be carried out. In spite of this, the case is presented as it may be useful to other researchers in the selection of candidate genes for mendelian forms of peromelia and phocomelia.
Upper-extremity phocomelia reexamined: a longitudinal dysplasia.
Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth
2005-12-01
In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral focal deficiency, were common in those patients. Eleven limbs in ten patients were identified as having severe combined dysplasia, which was type A in seven of them and type B in four. Four patients with severe combined dysplasia had congenital cardiac anomalies, and four had associated musculoskeletal abnormalities. Three of the four patients with the type-B disorder had a contralateral ulnar longitudinal dysplasia. We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.
Association of ectrodactyly and distal phocomelia.
Delrue, M A; Lacombe, D
2002-01-01
Ectrodactyly and phocomelia are well known limbs malformations. They can be a part of various syndromes, and are more often transmitted with dominant autosomal Inheritance with variable expression and Incomplete penetrance. Different loci have been Identified for ectrodactyly (SHFM1 at 7q21.3q22.1, SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27), and two genes are known (DSS1 for SHFM1, p63 for SHFM4). We report the case of a 33 year-old female affected with the association of ectrodactyly and phocomelia. It could be a "new" association, or a mild or partial expression of the syndrome Including ectrodactyly, phocomelia, deafness and sinusal arythmia.
[Newborn with phocomelia and thrombocytopenia. Case report].
Maas, C; Arand, J; Orlikowsky, Th; Goelz, R
2002-01-01
Associated malformations and symptoms may be decisive in the differential diagnosis of neonatal phocomelia. We report on a neonate with phocomelia, petechiae and thrombocytopenia. This constellation is typical for the phocomelia-thrombocytopenia-syndrome, a variant of the thrombocytopenia-absent radius-(TAR) syndrome. During the neonatal period platelet transfusions were necessary. Relevant bleeding and development delays were not evident until the age of seven months. Cardinal symptoms of the TAR syndrome are bilaterally absent radius and neonatal thrombocytopenia. The patient presented with phocomelia of the upper extremities which occurs in only 5 - 10 % of the patients with TAR syndrome. Further abnormalities include additional bone and joint disorders and haematopoietic problems, such as thrombocytopenia. Bleeding episodes mainly occur in the first year of life, hence platelet transfusions may be necessary during this period. A new experimental approach is the Interleukin-6-mediated stimulation of thrombopoiesis. Usually platelet counts reach normal values in adults. The main problem remains a satisfactory management of various limb defects.
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies
Shukla, Dhirajkumar B; Jain, Akash; Jagtap, Swati S
2014-01-01
We are reporting a rare case of Complete Pentalogy of Cantrell (CPOC) with phocomelia and other associated anomalies such as encephalocoele, craniofacial defects, limb defects and a flexion deformity, with club foot in right lower limb. Antenatal ultrasonography done in a 20 year old primigravida revealed multiple thoraco-abdominal and CNS anomalies in a foetus with an average gestational age of 18.2 weeks. Foetal autopsy done following termination of the pregnancy revealed a combination of defects, based on which the diagnosis of Complete Pentalogy of Cantrell with associated anomalies was given. To the best of our knowledge, this is the first case of Complete Pentalogy of Cantrell with phocomelia which has been seen in the world. PMID:24995190
Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies.
Jagtap, Sunil V; Shukla, Dhirajkumar B; Jain, Akash; Jagtap, Swati S
2014-05-01
We are reporting a rare case of Complete Pentalogy of Cantrell (CPOC) with phocomelia and other associated anomalies such as encephalocoele, craniofacial defects, limb defects and a flexion deformity, with club foot in right lower limb. Antenatal ultrasonography done in a 20 year old primigravida revealed multiple thoraco-abdominal and CNS anomalies in a foetus with an average gestational age of 18.2 weeks. Foetal autopsy done following termination of the pregnancy revealed a combination of defects, based on which the diagnosis of Complete Pentalogy of Cantrell with associated anomalies was given. To the best of our knowledge, this is the first case of Complete Pentalogy of Cantrell with phocomelia which has been seen in the world.
Olney, R S; Hoyme, H E; Roche, F; Ferguson, K; Hintz, S; Madan, A
2001-11-01
Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Copyright 2001 Wiley-Liss, Inc.
Antonini, Tanya N; Van Horn Kerne, Valerie; Axelrad, Marni E; Karaviti, Lefkothea P; Schwartz, David D
2015-07-01
DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK phocomelia syndrome. © 2015 Wiley Periodicals, Inc.
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.
Keypour, Farideh; Naghi, Ilana; Behnam, Babak
2013-03-01
A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.
Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report
Naghi, Ilana; Behnam, Babak
2013-01-01
A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest. PMID:24971102
Tetra-phocomelia: the seal limb deformity - a case report.
Samal, Sunil Kumar; Rathod, Setu; Ghose, Seetesh
2015-02-01
We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3P2L2A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits. At 39 wk of gestation, she was admitted to our hospital with complaint of pain abdomen and on examination was found to be in second stage of labour. She delivered vaginally a term live 2.5 kg female baby with multiple anomalies. There was no history of drug intake, radiation exposure, maternal diabetes or family history of congenital anomalies to support the occurrence of tetra-phocomelia in this baby. The neonate also had multiple facial abnormalities like hypertelorism, microretrognathia and partial cleft palate. Further investigations revealed no abnormalities of internal organs. At present the baby is being followed up at our paediatric department. The case is reported owing to its rarity and term live birth.
Tetra-Phocomelia: The Seal Limb Deformity - A Case Report
Rathod, Setu; Ghose, Seetesh
2015-01-01
We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3P2L2A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits. At 39 wk of gestation, she was admitted to our hospital with complaint of pain abdomen and on examination was found to be in second stage of labour. She delivered vaginally a term live 2.5 kg female baby with multiple anomalies. There was no history of drug intake, radiation exposure, maternal diabetes or family history of congenital anomalies to support the occurrence of tetra-phocomelia in this baby. The neonate also had multiple facial abnormalities like hypertelorism, microretrognathia and partial cleft palate. Further investigations revealed no abnormalities of internal organs. At present the baby is being followed up at our paediatric department. The case is reported owing to its rarity and term live birth. PMID:25859493
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.
Gerkes, Erica H; van der Kevie-Kersemaekers, Anne-Marie F; Yakin, Mariam; Smeets, Dominique F C M; van Ravenswaaij-Arts, Conny M A
2010-01-01
Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically mild cases. In the extremely mild case presented here, specific mitotic abnormalities were detected and proved to be very helpful, since Roberts syndrome/SC phocomelia could be diagnosed after finding premature centromere separation and somatic aneuploidy at routine karyotyping. We discuss these and other mitotic cytogenetic abnormalities that can be of significant diagnostic importance, but which will be missed if only array studies are performed. We also discuss the difference between premature centromere separation and premature (sister) chromatid separation. Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.
[Phocomelia in Africa: thoughts about a case report].
Mouafo Tambo, Faustin Félicien; Andze, Ondobo Gervais
2010-01-01
Phocomelia is a developmental abnormality which occurs during pregnancy and results in congenital ectromelia (developmental arrest of one or more limbs), with characteristically atrophied limbs that look as if they were directly implanted on the trunk, that is, like seal (phocid) flippers. The authors report the case of a Cameroonian neonate. Abnormalities were limited to the upper limbs. The lack of useful causal information and especially the difficulties in therapeutic management in this context are highlighted.
Schüle, Birgitt; Oviedo, Angelica; Johnston, Kathreen; Pai, Shashidhar; Francke, Uta
2005-12-01
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to adulthood. Since heterochromatin repulsion (HR) is characteristic for both disorders and is not complemented in somatic-cell hybrids, it has been hypothesized that the disorders are allelic. Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2) on 8p21.1 have been reported in RBS. To determine whether ESCO2 mutations are also responsible for SC, we studied three families with SC and two families in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound, led to pregnancy terminations. All cases were positive for HR. We identified seven novel mutations in exons 3-8 of ESCO2. In two families, affected individuals were homozygous--for a 5-nucleotide deletion in one family and a splice-site mutation in the other. In three nonconsanguineous families, probands were compound heterozygous for a single-nucleotide insertion or deletion, a nonsense mutation, or a splice-site mutation. Abnormal splice products were characterized at the RNA level. Since only protein-truncating mutations were identified, regardless of clinical severity, we conclude that genotype does not predict phenotype. Having established that RBS and SC are caused by mutations in the same gene, we delineated the clinical phenotype of the tetraphocomelia spectrum that is associated with HR and ESCO2 mutations and differentiated it from other types of phocomelia that are negative for HR.
Management of an infant with cleft lip and palate with phocomelia in dental practice.
Muthu, M S
2000-12-01
Cleft lip and palate is a severe birth defect occurring approximately one in 800-1000 newborn infants. The incidence varies widely among races. Cleft lip and palate together account for approximately 50% of all cases whereas isolated cleft lip and isolated cleft palate occur in about 25% of cases. Many of these congenital anomalies appear to be genetically determined though the majority are of unknown causes or teratogenic influences. Presented here is a 3 day old infant with bilateral cleft lip and palate and phocomelia for whom a feeding obturator was made and delivered to facilitate feeding.
Schüle, Birgitt; Oviedo, Angelica; Johnston, Kathreen; Pai, Shashidhar; Francke, Uta
2005-01-01
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to adulthood. Since heterochromatin repulsion (HR) is characteristic for both disorders and is not complemented in somatic-cell hybrids, it has been hypothesized that the disorders are allelic. Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2) on 8p21.1 have been reported in RBS. To determine whether ESCO2 mutations are also responsible for SC, we studied three families with SC and two families in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound, led to pregnancy terminations. All cases were positive for HR. We identified seven novel mutations in exons 3–8 of ESCO2. In two families, affected individuals were homozygous—for a 5-nucleotide deletion in one family and a splice-site mutation in the other. In three nonconsanguineous families, probands were compound heterozygous for a single-nucleotide insertion or deletion, a nonsense mutation, or a splice-site mutation. Abnormal splice products were characterized at the RNA level. Since only protein-truncating mutations were identified, regardless of clinical severity, we conclude that genotype does not predict phenotype. Having established that RBS and SC are caused by mutations in the same gene, we delineated the clinical phenotype of the tetraphocomelia spectrum that is associated with HR and ESCO2 mutations and differentiated it from other types of phocomelia that are negative for HR. PMID:16380922
A Reevaluation of X-Irradiation Induced Phocomelia and Proximodistal Limb Patterning
Galloway, Jenna L.; Delgado, Irene; Ros, Maria A.; Tabin, Clifford J.
2009-01-01
Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter than normal, with the upper portion of the limb being most severely affected. In extreme cases, the hands or fingers are attached directly to the shoulder and the most proximal elements (those closest to the shoulder) are entirely missing. This disorder, previously known in both autosomal recessive and sporadic forms, showed a dramatic increase in incidence in the early 1960’s due to the tragic toxicological effects of the drug thalidomide, which had been prescribed as a mild sedative1, 2. This human birth defect is mimicked in developing chick limb buds exposed to X-irradiation3-5. Both X-irradiation5 and thalidomide-induced phocomelia5, 6 have been interpreted as patterning defects in the context of the Progress Zone Model, which states that a cell’s proximodistal (PD) identity is determined by the length of time spent in a distal limb region termed the “Progress Zone” 7. Indeed, studies of X-irradiation induced phocomelia have served as one of the two major experimental lines of evidence supporting the validity of the Progress Zone Model. Here, using a combination of molecular analysis and lineage tracing, we show that X-irradiation-induced phocomelia is fundamentally not a patterning defect, but rather results from a time-dependent loss of skeletal progenitors. As skeletal condensation proceeds from the shoulder to fingers (in a proximal to distal direction), the proximal elements are differentially affected in limb buds exposed to radiation at early stages. This conclusion changes the framework for considering the effect of thalidomide and other forms of phocomelia, suggesting the possibility that the etiology lies not in a defect in the patterning process, but rather in progenitor cell survival and differentiation. Moreover, molecular evidence that PD patterning is unaffected following X-irradiation does not support the predictions of the Progress Zone Model. PMID:19553938
A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning.
Galloway, Jenna L; Delgado, Irene; Ros, Maria A; Tabin, Clifford J
2009-07-16
Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter than normal, with the upper portion of the limb being most severely affected. In extreme cases, the hands or fingers are attached directly to the shoulder and the most proximal elements (those closest to the shoulder) are entirely missing. This disorder, previously known in both autosomal recessive and sporadic forms, showed a marked increase in incidence in the early 1960s due to the tragic toxicological effects of the drug thalidomide, which had been prescribed as a mild sedative. This human birth defect is mimicked in developing chick limb buds exposed to X-irradiation. Both X-irradiation and thalidomide-induced phocomelia have been interpreted as patterning defects in the context of the progress zone model, which states that a cell's proximodistal identity is determined by the length of time spent in a distal limb region termed the 'progress zone'. Indeed, studies of X-irradiation-induced phocomelia have served as one of the two major experimental lines of evidence supporting the validity of the progress zone model. Here, using a combination of molecular analysis and lineage tracing in chick, we show that X-irradiation-induced phocomelia is fundamentally not a patterning defect, but rather results from a time-dependent loss of skeletal progenitors. Because skeletal condensation proceeds from the shoulder to fingers (in a proximal to distal direction), the proximal elements are differentially affected in limb buds exposed to radiation at early stages. This conclusion changes the framework for considering the effect of thalidomide and other forms of phocomelia, suggesting the possibility that the aetiology lies not in a defect in the patterning process, but rather in progenitor cell survival and differentiation. Moreover, molecular evidence that proximodistal patterning is unaffected after X-irradiation does not support the predictions of the progress zone model.
Wang, Anthony C; Gemmete, Joseph J; Keegan, Catherine E; Witt, Cordelie E; Muraszko, Karin M; Than, Khoi D; Maher, Cormac O
2011-11-01
Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.
Rather, Tanveeer Ah; Khan, Shoukat H; Singh, Manjeet; Choh, Naseer A
2013-01-01
The possibility of an ectopic gallbladder should always be considered whenever there is a failure to localize it in its normal anatomical position on routine imaging. Although a very rare entity, the anomalous position of gallbladder can result in misinterpretation of imaging findings and create clinical confusion. Awareness of such an anomaly facilitates proper diagnosis and subsequent management. The authors report a very rare case of suprahepatic gallbladder associated with phocomelia, pancytopenia, and splenomegaly in a young 25-year-old female. The suprahepatic gallbladder was initially visualized on Technetium-99m (Tc-99m) Mebrofenin radionuclide hepatobiliary scintigraphy. Subsequent magnetic resonance cholecystopancreatography (MRCP) was also done to confirm the diagnosis.
Rather, Tanveeer Ah; Khan, Shoukat H.; Singh, Manjeet; Choh, Naseer A.
2013-01-01
The possibility of an ectopic gallbladder should always be considered whenever there is a failure to localize it in its normal anatomical position on routine imaging. Although a very rare entity, the anomalous position of gallbladder can result in misinterpretation of imaging findings and create clinical confusion. Awareness of such an anomaly facilitates proper diagnosis and subsequent management. The authors report a very rare case of suprahepatic gallbladder associated with phocomelia, pancytopenia, and splenomegaly in a young 25-year-old female. The suprahepatic gallbladder was initially visualized on Technetium-99m (Tc-99m) Mebrofenin radionuclide hepatobiliary scintigraphy. Subsequent magnetic resonance cholecystopancreatography (MRCP) was also done to confirm the diagnosis. PMID:23961256
Roberts-SC phocomelia syndrome.
Maheshwari, A; Kumar, P; Dutta, S; Narang, A
2001-06-01
A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.
Olgun, Z Deniz; Demirkiran, Gokhan; Polly, David; Yazici, Muharrem
2018-03-01
There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side. The combination of upper limb absence and same-sided scoliosis in these patients may provide a clue of the mechanical factors causing scoliosis in other disorders. In this article, we attempt to define this exceptional deformity, theorize on its etiology, and draw attention to this particular combination of problems. Case series; Level IV.
2005-06-02
the interaction of the Privacy Rule and FDA regulations with the Common Rule. Appendix B CRS-12 20 Phocomelia Syndrome is a birth defect that may...linked to the birth defect phocomelia .20 ! Congress enacts the Drug Amendments of 1962 (P.L. 87-781), requiring researchers to obtain subjects...information about Phocomelia Syndrome, see [http://my.webmd.com/hw/health_guide_atoz/nord780.asp], visited Apr. 11, 2005. 178 Section 505(i) of the Food
The classification of phocomelia.
Tytherleigh-Strong, G; Hooper, G
2003-06-01
We studied 24 patients with 44 phocomelic upper limbs. Only 11 limbs could be grouped in the classification system of Frantz and O' Rahilly. The non-classifiable limbs were further studied and their characteristics identified. It is confirmed that phocomelia is not an intercalary defect.
Kashiwagi, Maki; Chaoui, Rabih; Stallmach, Thomas; Hürlimann, Sandra; Lauper, Urs; Hebisch, Gundula
2003-11-01
Maternal cocaine abuse in pregnancy is associated with complications such as intrauterine growth retardation, abruptio placentae, and preterm delivery. We report what is, to our knowledge, the first published observation of fetal bilateral renal agenesis associated with a vascular disruption syndrome comprising upper limb reduction defect and a single umbilical artery following maternal cocaine abuse in early pregnancy. This constellation in a fetus aborted at 18 weeks extends the spectrum of complications possibly associated with cocaine abuse in pregnancy. Copyright 2003 Wiley-Liss, Inc.
Expanding the mutation and clinical spectrum of Roberts syndrome.
Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R
2016-07-01
Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.
[Roberts-SC phocomelia syndrome].
Musfeld, D A; Bühler, E M; Heinzl, S
2001-01-01
The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral corneal opacities. Mental retardation is common in surviving patients.
Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S
2006-08-01
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.
Woods, C. G.; Stricker, S.; Seemann, P.; Stern, R.; Cox, J.; Sherridan, E.; Roberts, E.; Springell, K.; Scott, S.; Karbani, G.; Sharif, S. M.; Toomes, C.; Bond, J.; Kumar, D.; Al-Gazali, L.; Mundlos, S.
2006-01-01
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development. PMID:16826533
[Variants of radial hemimelia with and without vitium cordis (Holt-Oram syndrome) in 2 families].
Pfeiffer, R A; Böwing, B; Deeg, K H
1989-05-01
In two families radial hemimelia is inherited as a dominant trait. The first proposita suffered from bilateral radial aplasia, the 2nd propositus exhibited (pseudo)phocomelia. In this case the diagnosis was Holt-Oram-syndrome. The affected mothers showed unilateral hypoplasia of the thumb only. Cases like these ones are likely to be overlooked or misinterpreted. The recurrence risk is 50%. Similar observations are quoted. The cause of "variable expressivity" is unknown.
Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly.
Wertelecki, W; Dev, V G; Superneau, D W
1985-08-01
Abnormal centromere-chromatid apposition (ACCA) was noted in a patient with Peters' anomaly. Previous reports of ACCA emphasized its association with tetraphocomelia and other congenital malformations (Roberts, SC Phocomelia, Pseudothalidomide Syndromes). This report expands the array of congenital malformations associated with ACCA and emphasizes the diagnostic importance of ocular defects for the ascertainment of additional cases of ACCA and its possible relationship with abnormal cell division.
Hall, John E.
1963-01-01
The deformities commonly seen in “thalidomide babies” are described. These vary from relatively uncomplicated radial-ray defects to complete phocomelia of all four extremities. It is suggested that the care of these children is best carried out in a clinic accustomed to dealing with juvenile amputee problems. A plea is made for very early fitting of upper-extremity prostheses (at approximately three months of age) in cases of unilateral upper-limb deficiencies. A “bucket” for sitting should be supplied for children with quadrilateral phocomelia to sit in when they reach seven or eight months of age. Children with severe upper-limb malformations will be candidates for some form of externally powered prostheses. ImagesFig. 1a and 1bFig. 2a and 2bFig. 3a and 3bFig. 4a and 4bFig. 5a, b and cFig. 6a and 6bFig. 7Fig. 8Fig. 9a and 9bFig. 10a,bFig. 10c and d PMID:13952105
Krassikoff, N E; Cowan, J M; Parry, D M; Francke, U
1986-01-01
Different cell types from a female patient with Roberts/SC phocomelia syndrome were evaluated quantitatively for the presence of repulsion of heterochromatin and satellite regions of mitotic chromosomes. Whereas EBV-transformed lymphoblasts from an established cell line revealed these phenomena at frequencies equal to those in PHA-stimulated lymphocytes and cultured skin fibroblasts, aneuploid cells from a metastatic melanoma displayed them at 50% lower frequency. Cocultivation of the patient's fibroblasts with either an immortal Chinese hamster cell line or with a human male fibroblast strain carrying a t(4;6)(p14;q21) translocation showed that the phenomenon was not corrected or induced by a diffusible factor or by cell-to-cell contact. In each experiment, only the patient's metaphase spreads revealed chromatid repulsion. In fusion hybrids between the patient's fibroblasts and an established Chinese hamster cell line, the human chromosomes behaved perfectly normally, suggesting that the gene product which is missing or mutant in Roberts/SC phocomelia syndrome is supplied by the Chinese hamster genome. Images Fig. 1 Fig. 2 Fig. 3 PMID:3788975
Earle, Rosie; Vaghadia, Himat; Shanahan, Enda; Tang, Raymond; Sawka, Andrew
2016-11-01
We report the novel application of photoplethysmographic technology with the Nexfin HD monitor for real-time measurement of blood pressure (BP) in a patient with tetraamelia. The patient was a 58-year-old man with tetraamelia secondary to thalidomide exposure in utero, who presented for surgical excision of a maxillary schwannoma. Because difficulty of cuff use on rudimentary limbs and failure to gain invasive arterial access due to abnormalities of limb vasculature, this population is known to pose some unique challenges for BP measurement. Nexfin may offer an alternative noninvasive method to detect BP in patients with phocomelia during the perioperative period. Copyright © 2016 Elsevier Inc. All rights reserved.
Hodo, Thomas; Hamrick, Mark; Melenevsky, Yulia
Musculoskeletal anatomy is widely known to have components that stray from the norm in the form of variant muscle and tendon presence, absence, origin, insertion, and bifurcation. Although these variant muscles and tendons might be deemed incidental and insignificant findings by most, they can be important contributors to pathologic physiology or, more importantly, an option for effective treatment. In the present case report, we describe a patient with phocomelia and Müllerian abnormalities secondary to in utero thalidomide exposure. The patient had experienced recurrent bilateral foot pain accompanied by numbness, stiffness, swelling, and longstanding pes planus. These symptoms persisted despite conservative treatment with orthotics, steroids, and nonsteroidal anti-inflammatory drugs. Radiographic imaging showed dysmorphic and degenerative changes of the ankle and foot joints. Further investigation with magnetic resonance imaging revealed complex anatomic abnormalities, including the absence of the posterior tibialis and peroneus brevis, lateralization of the peroneus longus, and the presence of a variant anterior compartment muscle. The variant structure was likely a previously described anterior compartment variant, anterior fibulocalcaneus, and might have been a source of the recurrent pain. Also, the absence of the posterior tibialis might have caused the pes planus in the present patient, considering that posterior tibialis tendon dysfunction is the most common cause of acquired pes planus. Although thalidomide infrequently affects the lower extremities, its effects on growth and development were likely the cause of this rare array of anatomic abnormalities and resulting ankle and foot pathologic features. Copyright © 2017 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Sermer, David; Quercia, Nada; Chong, Karen; Chitayat, David
2007-12-15
A new lethal form of acrofacial dysostosis (AFD) syndrome was delineated by Rodriguez et al. [Rodriguez et al. (1990); Am J Med Genet 35:484-489]. We report on a male fetus with mandibulofacial dysostosis, including phocomelia-like upper limb deficiencies and lower limb anomalies which are characteristic of AFD Rodriguez type. The diagnosis was made on prenatal sonogram at 20 and at 24.1 weeks gestation. The severity of the upper limb defects, the involvement of lower limbs, and the absence of eyelid coloboma and polythelia excluded the possibility of other conditions associated with acrofacial dysostosis (AFD) including Nager acrofacial dysostosis syndrome (NADS) and postaxial acrofacial dysostosis syndrome (POADS). This case further delineates the AFD syndrome type Rodriguez. (c) 2007 Wiley-Liss, Inc.
5-AZA-2'-DEOXYCYTIDINE INDUCED CYTOTOXICITY AND LONG BONE REDUCTION DEFECTS IN THE MURINE LIMB
The antineoplastic drug 5-aza-2'-deoxycytidine (dAZA) is a DNA hypomethylating agent that can be used to induce hind limb phocomelia in the offspring of CD-1 Swiss Webster mice. Previously, our laboratory investigated the possibility that dAZA induced alterations in gene express...
Thalidomide in Dermatology: Revisited
Hassan, Iffat; Dorjay, Konchok; Anwar, Parvaiz
2015-01-01
The use of thalidomide in relation to dermatology is well- known and enough data is available in the literature about various aspects of thalidomide. Despite being an interesting and useful drug for many dermatoses, it is associated with many health hazards including the birth defects, phocomelia. We hereby present a comprehensive review about thalidomide and its application in dermatology. PMID:25814738
Cellular anomalies underlying retinoid-induced phocomelia.
Zhou, Jian; Kochhar, Devendra M
2004-11-01
The question of how alterations in cell behavior produced by retinoic acid (RA) influenced the development of skeletogenic mesenchyme of the limb bud was examined in this study. Our established model was employed, which involves treatment of pregnant mice with a teratogenic dose of RA (100 mg/kg) on 11 days postcoitum (dpc) resulting in a severe truncation of all long bones of the forelimbs in virtually every exposed fetus. It is shown that RA, administered at a stage to induce phocomelia in virtually all exposed embryos, resulted in immediate appearance of enhanced cell death within the mesenchyme in the central core of the limb bud, an area destined for chondrogenesis. The central core mesenchyme, which in the untreated limb buds experiences a sharp decline in cell proliferation heralding the onset of chondrogenesis, demonstrated a reversal of the process; this mesenchyme maintained a higher rate of cell proliferation upon RA exposure. These events resulted in a truncation and disorganization of the chondrogenic anlage, more pronounced in zeugopodal mesenchyme than in the autopod. We conclude that an inhibition of chondrogenesis was secondary to a disruption in cellular behavior caused by RA, a likely consequence of misregulation in the growth factor signaling cascade.
A review of supernumerary and absent limbs and digits of the upper limb.
Klaassen, Zachary; Choi, Monica; Musselman, Ruth; Eapen, Deborah; Tubbs, R Shane; Loukas, Marios
2012-03-01
For years people have been enamored by anomalies of the human limbs, particularly supernumerary and absent limbs and digits. Historically, there are a number of examples of such anomalies, including royal families of ancient Chaldea, tribes from Arabia, and examples from across nineteenth century Europe. The development of the upper limbs in a growing embryo is still being elucidated with the recent advent of homeobox genes, but researchers agree that upper limbs develop between stages 12-23 through a complex embryological process. Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abnormality. Supernumerary and absent limbs and digits are not unique to humans, and a number of animal cases have also been reported. This review of the literature illustrates the historical, anatomical, and clinical aspects of supernumerary and absent limbs and digits for the upper limb.
Use of Methyl Salicylates As a Trialing Chemical Agent Simulant
1990-05-01
phocomelia of the hind-limbs were frequently seen after injection on day 11. Hydronephrosis , ectoplc kidneys, and exencephaly were occasionally observed...Oapparent hydronephrosis " late in gestition. This apparent abnormality decreases by steady lengthening of the renal papilla with advancing fetal anw...treated fetuses at weaning., This persistent condition, suggestive, of hydronephrosis or hypoplasia, was not noted in control fetuses. Monie (1970
Morita, Akihiro; Nakahira, Kumiko; Hasegawa, Taeko; Uchida, Kaoru; Taniguchi, Yoshihito; Takeda, Shunichi; Toyoda, Atsushi; Sakaki, Yoshiyuki; Shimada, Atsuko; Takeda, Hiroyuki; Yanagihara, Itaru
2012-06-01
Roberts syndrome and SC phocomelia (RBS/SC) are genetic autosomal recessive syndromes caused by establishment of cohesion 1 homolog 2 ( ESCO 2) mutation. RBS/SC appear to have a variety of clinical features, even with the same mutation of the ESCO2 gene. Here, we established and genetically characterized a medaka model of RBS/SC by reverse genetics. The RBS/SC model was screened from a mutant medaka library produced by the Targeting Induced Local Lesions in Genomes method. The medaka mutant carrying the homozygous mutation at R80S in the conserved region of ESCO2 exhibited clinical variety (i.e. developmental arrest with craniofacial and chromosomal abnormalities and embryonic lethality) as characterized in RBS/SC. Moreover, widespread apoptosis and downregulation of some gene expression, including notch1a, were detected in the R80S mutant. The R80S mutant is the animal model for RBS/SC and a valuable resource that provides the opportunity to extend knowledge of ESCO2. Downregulation of some gene expression in the R80S mutant is an important clue explaining non-correlation between genotype and phenotype in RBS/SC. © 2012 The Authors Development, Growth & Differentiation © 2012 Japanese Society of Developmental Biologists.
Urban, M; Opitz, C; Bommer, C; Enders, H; Tinschert, S; Witkowski, R
1998-09-23
We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.
Intrapartum diagnostic of Roberts syndrome - case presentation.
Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela
2015-01-01
Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.
Kantaputra, Piranit N; Mundlos, Stefan; Sripathomsawat, Warissara
2010-11-01
Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cause of the syndrome. We report on two sisters in a Thai family with short and malformed long bones, absent fibulae, flexion contracture of digits, and a/hypoplastic nails. Fusion between severely malformed femora and slender tibiae has never been reported in patients with WNT7A mutations. Lower limbs were more severely malformed than the upper ones and the pelvis was also severely affected. Multiple fusions of long bones and of the femoral heads to the acetabula were evident. A novel homozygous missense mutation in coding exon 4 of the WNT7A was detected in both affected daughters (c.664C > T) leading to an amino acid exchange from arginine to tryptophan (p.Arg222Trp; R222W). The phenotype is likely to result from an abnormality of all three signaling centers in the developing limb resulting in ventralization with a loss of dorsal structures (aplasia/hypoplasia of nails) a loss of anterior-posterior identity (single distal bones in lower limb without polarity) and an outgrowth defect resulting in distal truncations. © 2010 Wiley-Liss, Inc.
Onida, S; Lynes, K; Whitehouse, PA
2010-01-01
Internal herniations through broad ligament defects are very rare. We present the first report of the triad of broad ligament defect, internal herniation of the caecum and appendicitis. A 36-year-old woman with phocomelia presented with right iliac fossa pain and vomiting. The patient had no previous history of trauma or surgery. Abdominal ultrasound showed a small amount of free fluid. At laparoscopy, bilateral broad ligament defects were found, with herniation of the caecum and an inflamed appendix through the right-sided defect. A laparoscopic salpingo-oophorectomy was required for reduction of the herniated bowel, and an appendicectomy was performed. Broad ligament defects may be congenital or acquired. In this case, in light of the limb abnormality and absence of previous surgery, a congenital aetiology is more likely. Ultrasound scan is not reliable and, although computed tomography may be of help, a diagnostic laparoscopy is the best investigation. PMID:20566032
Gilpin, R. E.
1963-01-01
The types of prostheses available for treatment of congenital amputations in children, and the assistance in habilitation which can be expected from their use, are described in this communication. The limb deformities in children commonly associated with the drug thalidomide are phocomelia and amelia. Prosthetic treatment of these is difficult, but in almost every case some assistance can be offered. The degree of this assistance will depend to a large extent on (1) the number of limbs involved, (2) the site of the deformity, (3) the intellectual capacity of the child. These factors are evaluated by a clinic team, consisting of a prosthetist, a therapist, a social worker, and a doctor, who acts as the clinical chief. They are also embodied into a prescription for a prosthesis and into a program of management. Subsequently, the clinic team also carry out an assessment of the result. The prosthetist makes available his knowledge of present-day appliances, and assures that the way is left open for use of new, and perhaps revolutionary prostheses, in the future. ImagesFig. 1(a)-1(b)Fig. 2Fig. 3Fig. 4 PMID:13947980
[Thalidomide teratogenicity and its direct target identification].
Ito, Takumi; Ando, Hideki; Handa, Hiroshi
2015-01-01
Half a century ago, thalidomide was developed as a sedative drug and was wildly used over 40 countries. However the drug has serious birth defects such as amelia and phocomelia. Now thalidomide is regarded as a clinically effective drug and used for the treatment of multiple myeloma under strict controls. The direct target of thalidomide had been a long-standing question. We identified cereblon as a primary direct target protein for thalidomide teratogenicity using new affinity bead technology in 2010. In this review, we introduce an overview of thalidomide teratogenicity, a story about how we identified cereblon, and recent advances in cereblon studies.
History, heresy and radiology in scientific discovery.
McCredie, J
2009-10-01
Nowadays, most drugs reach the market after research has established their pharmacology, safety and efficacy. That was not always the case 50 years ago. Thalidomide was used before its target cell or mode of action were known. Commencing with the thalidomide catastrophe--an epidemic of gross birth defects (1958-1962)--thalidomide's origins are revisited to show how this drug came to be made and sold in the 1950s. Thalidomide intersected with Australian radiology in the 1970s. The site and mode of action of the drug was deduced from X-rays of thalidomide-induced bone defects, which have classical radiological signs of sensory neuropathic osteoarthropathy. The longitudinal reduction deformities follow the distribution of segmental sensory innervation of the limb skeleton, indicating neural crest as the target organ. Injury to one level of neural crest halts normal neurotrophism and deletes the dependent segment--a previously unrecognised embryonic mechanism that explains most non-genetic birth defects. The final common pathway is neural crest injury and failure of normal neurotrophism to result in longitudinal reduction deformities, for example, phocomelia.
The TRAP (twin reversed arterial perfusion) sequence - case presentation.
Mărginean, Claudiu; Mărginean, Maria Oana; Mureşan, Daniel; Zahiu, LuminiŢa; Horváth, Emőke
2016-01-01
We present a particular case of TRAP (twin reversed arterial perfusion) syndrome, which has a very rarely association of the simultaneous existence of a rudimentary malformed heart and brain, and also other malformations like abdominal wall abnormality, absent bladder with present kidneys, and absence of the lungs, which appear only in a few cases on the receptor twin from this sequence, malformations incompatible with life. A Caucasian 26-year-old pregnant woman, at the first pregnancy, with a monochorionic-diamniotic pregnancy, 26 weeks of gestation was referred to our hospital, for polyhydramnios. The patient delivered a living female newborn, weighing 950 g, with an Apgar score of 2 at one minute - the donor fetus and a second female newborn with multiple malformations, no signs of life and who weighed 2300 g - the receptor fetus. The anatomopathological examination confirmed the TRAP sequence associated with severe facial dysmorphism, bilateral phocomelia and cardiac malformations (rudimentary hypoplastic, univentricular) and a vascular anastomosis between the two umbilical cords. Anemia and cardiac complications which can lead to cardiac failure, appear early during pregnancy and caused the death of the pumping twin. We emphasize that in our case of TRAP sequence, the ultrasound examination established the diagnosis of the syndrome with high accuracy. Therefore, we can conclude that the existence of a rudimentary heart and a vascular anastomosis between the two umbilical cords supports the apparition of TRAP sequence. The early diagnosis of this pathology, the observation of the pregnancy with the help of weekly ultrasounds and the intrauterine interventions can increase the survival chances of the donor fetus from the TRAP sequence.
Liu, Jinglan; Krantz, Ian D.
2016-01-01
Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases. PMID:18767966
Mannini, Linda; Menga, Stefania; Musio, Antonio
2010-06-01
Cohesin is responsible for sister chromatid cohesion, ensuring the correct chromosome segregation. Beyond this role, cohesin and regulatory cohesin genes seem to play a role in preserving genome stability and gene transcription regulation. DNA damage is thought to be a major culprit for many human diseases, including cancer. Our present knowledge of the molecular basis underlying genome instability is extremely limited. Mutations in cohesin genes cause human diseases such as Cornelia de Lange syndrome and Roberts syndrome/SC phocomelia, and all the cell lines derived from affected patients show genome instability. Cohesin mutations have also been identified in colorectal cancer. Here, we will discuss the human disorders caused by alterations of cohesin function, with emphasis on the emerging role of cohesin as a genome stability caretaker.
Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies
Alp, Esma; Atabek, Mehmet Emre; Pirgon, Özgür
2010-01-01
Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. Conflict of interest:None declared. PMID:21274338
Dorsett, Dale
2006-01-01
The sister chromatid cohesion apparatus mediates physical pairing of duplicated chromosomes. This pairing is essential for appropriate distribution of chromosomes into the daughter cells upon cell division. Recent evidence shows that the cohesion apparatus, which is a significant structural component of chromosomes during interphase, also affects gene expression and development. The Cornelia de Lange (CdLS) and Roberts/SC phocomelia (RBS/SC) genetic syndromes in humans are caused by mutations affecting components of the cohesion apparatus. Studies in Drosophila suggest that effects on gene expression are most likely responsible for developmental alterations in CdLS. Effects on chromatid cohesion are apparent in RBS/SC syndrome, but data from yeast and Drosophila point to the likelihood that changes in expression of genes located in heterochromatin could contribute to the developmental deficits. PMID:16819604
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).
Chen, Chih-Ping
2008-09-01
Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XXagonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.
A Comparison of Fast-Spectrum and Moderated Space Fission Reactors
NASA Astrophysics Data System (ADS)
Poston, David I.
2005-02-01
The reactor neutron spectrum is one of the fundamental design choices for any fission reactor, but the implications of using a moderated spectrum are vastly different for space reactors as opposed to terrestrial reactors. In addition, the pros and cons of neutron spectra are significantly different among many of the envisioned space power applications. This paper begins with a discussion of the neutronic differences between fast-spectrum and moderated space reactors. This is followed by a discussion of the pros and cons of fast-spectrum and moderated space reactors separated into three areas—technical risk, performance, and safety/safeguards. A mix of quantitative and qualitative arguments is presented, and some conclusions generally can be made regarding neutron spectrum and space power application. In most cases, a fast-spectrum system appears to be the better alternative (mostly because of simplicity and higher potential operating temperatures); however, in some cases, such as a low-power (<100-kWt) surface reactor, a moderated spectrum could provide a better approach. In all cases, the determination of which spectrum is preferred is a strong function of the metrics provided by the "customer"— i.e., if a certain level of performance is required, it could provide a different solution than if a certain level of safeguards is required (which in some cases could produce a null solution). The views expressed in this document are those of the author and do not necessarily reflect agreement by the Government.
Spectral monodromy of non-self-adjoint operators
NASA Astrophysics Data System (ADS)
Phan, Quang Sang
2014-01-01
In the present paper, we build a combinatorial invariant, called the "spectral monodromy" from the spectrum of a single (non-self-adjoint) h-pseudodifferential operator with two degrees of freedom in the semi-classical limit. Our inspiration comes from the quantum monodromy defined for the joint spectrum of an integrable system of n commuting self-adjoint h-pseudodifferential operators, given by S. Vu Ngoc ["Quantum monodromy in integrable systems," Commun. Math. Phys. 203(2), 465-479 (1999)]. The first simple case that we treat in this work is a normal operator. In this case, the discrete spectrum can be identified with the joint spectrum of an integrable quantum system. The second more complex case we propose is a small perturbation of a self-adjoint operator with a classical integrability property. We show that the discrete spectrum (in a small band around the real axis) also has a combinatorial monodromy. The main difficulty in this case is that we do not know the description of the spectrum everywhere, but only in a Cantor type set. In addition, we also show that the corresponding monodromy can be identified with the classical monodromy, defined by J. Duistermaat ["On global action-angle coordinates," Commun. Pure Appl. Math. 33(6), 687-706 (1980)].
Maternal Infection during Pregnancy and Autism Spectrum Disorders
ERIC Educational Resources Information Center
Zerbo, Ousseny; Qian, Yinge; Yoshida, Cathleen; Grether, Judith K.; Van de Water, Judy; Croen, Lisa A.
2015-01-01
We conducted a nested case-control study including 407 cases and 2,075 frequency matched controls to investigate the association between maternal infections during pregnancy and risk of autism spectrum disorders (ASD). Cases, controls, and maternal infections were ascertained from Kaiser Permanente Northern California clinical databases. No…
Parental Age and Risk of Autism Spectrum Disorders in a Finnish National Birth Cohort
ERIC Educational Resources Information Center
Lampi, Katja M.; Hinkka-Yli-Salomäki, Susanna; Lehti, Venla; Helenius, Hans; Gissler, Mika; Brown, Alan S.; Sourander, Andre
2013-01-01
Aim of the study was to examine the associations between parental age and autism spectrum disorders (ASD). Data were based on the FIPS-A (Finnish Prenatal Study of Autism and Autism Spectrum Disorders), a case-control study with a total of 4,713 cases with childhood autism (n = 1,132), Asperger's syndrome (n = 1,785) or other pervasive…
Melcer, Yaakov; Jauniaux, Eric; Maymon, Shlomit; Tsviban, Anna; Pekar-Zlotin, Marina; Betser, Moshe; Maymon, Ron
2018-04-01
Placenta accreta spectrum and vasa previa (VP) are congenital disorders of placentation associated with high morbidity and mortality for both mothers and newborns when undiagnosed before delivery. Prenatal diagnosis of these conditions is essential to allow multidisciplinary management and thus improve perinatal outcomes. The objective of the study was to compare perinatal outcome in women with placenta accreta spectrum or vasa previa before and after implementation of targeted scanning protocols. This retrospective study included 2 nonconcurrent cohorts for each condition before and after implementation of the corresponding protocols (2004-1012 vs 2013-2016 for placenta accreta spectrum and 1988-2007 vs 2008-2016 for vasa previa). Clinical reports of women diagnosed with placenta accreta spectrum and vasa previa during the study periods were reviewed and outcomes were compared. In total, there were 97 cases of placenta accreta spectrum and 51 cases with vasa previa, all confirmed at delivery. In both cohorts, the prenatal detection rate increased after implementation of the scanning protocols (28 of 65 cases [43.1%] vs 31 of 32 cases [96.9%], P < .001, for placenta accreta spectrum and 9 of 18 cases [50%] vs 29 of 33 cases [87.9%], 87.9%, P < .01 for vasa previa). The perinatal outcome improved also significantly in both cohorts after implementation of the protocols. In the placenta accreta spectrum cohort, the estimated blood loss and the postoperative hospitalization stay decreased between periods (1520 ± 845 vs 1168 ± 707 mL, P < .01, and 10.9 ± 14.1 vs 5.7 ± 2.2 days, P < .05, respectively). In the vasa previa cohort, the number of 5 minute Apgar score ≤5 and umbilical cord pH <7 decreased between periods (5 of 18 cases [27.8%] vs 1 of 33 cases [3%]; P < .05, and 4 of 18 cases [22.2%] vs 1 of 33 cases [3%], P < .05, respectively). The implementation of standardized prenatal targeted scanning protocols for pregnant women with risk factors for placenta accreta spectrum and vasa previa was associated with improved maternal and neonatal outcomes. The continuous increases in the rates of caesarean deliveries and use of assisted reproductive technology highlights the need to develop training programs and introduce targeted scanning protocols at the national and international levels. Copyright © 2018 Elsevier Inc. All rights reserved.
Does a Claims Diagnosis of Autism Mean a True Case?
ERIC Educational Resources Information Center
Burke, James P.; Jain, Anjali; Yang, Wenya; Kelly, Jonathan P.; Kaiser, Marygrace; Becker, Laura; Lawer, Lindsay; Newschaffer, Craig J.
2014-01-01
The purpose of this study was to validate autism spectrum disorder cases identified through claims-based case identification algorithms against a clinical review of medical charts. Charts were reviewed for 432 children who fell into one of the three following groups: (a) more than or equal to two claims with an autism spectrum disorder diagnosis…
Brian, Jessica; Bryson, Susan E; Smith, Isabel M; Roberts, Wendy; Roncadin, Caroline; Szatmari, Peter; Zwaigenbaum, Lonnie
2016-10-01
Considerable evidence on autism spectrum disorder emergence comes from longitudinal high-risk samples (i.e. younger siblings of children with autism spectrum disorder). Diagnostic stability to age 3 is very good when diagnosed as early as 18-24 months, but sensitivity is weaker, and relatively little is known beyond toddlerhood. We examined stability and change in blinded, clinical best-estimate diagnosis from age 3 to middle childhood (mean age = 9.5 years) in 67 high-risk siblings enrolled in infancy. Good agreement emerged for clinical best-estimate diagnoses (89.6% overall; kappa = 0.76, p < 0.001, 95% confidence interval = 0.59-0.93). At age 3, 18 cases (26.9%) were classified with "autism spectrum disorder": 17 retained their autism spectrum disorder diagnosis (94.4%; 13 boys, 4 girls) and 1 no longer met autism spectrum disorder criteria at follow-up. Among "non-autism spectrum disorder" cases at age 3, 43/49 remained non-autism spectrum disorder at follow-up (87.8%; 22 boys, 21 girls) and 6/49 met lower autism symptomatology criteria ("Later-Diagnosed"; 3 boys, 3 girls). Later-diagnosed cases had significantly lower autism spectrum disorder symptomatology and higher receptive language at age 3 and trends toward lower autism symptoms and higher cognitive abilities at follow-up. Emerging developmental concerns were noted in all later-diagnosed cases, by age 3 or 5. High-risk children need to be followed up into middle childhood, particularly when showing differences in autism-related domains. © The Author(s) 2015.
Brief Report: Maternal Smoking during Pregnancy and Autism Spectrum Disorders
ERIC Educational Resources Information Center
Lee, Brian K.; Gardner, Renee M.; Dal, Henrik; Svensson, Anna; Galanti, Maria Rosaria; Rai, Dheeraj; Dalman, Christina; Magnusson, Cecilia
2012-01-01
Prenatal exposure to tobacco smoke is suggested as a potential risk factor for autism spectrum disorders (ASD). Previous epidemiological studies of this topic have yielded mixed findings. We performed a case-control study of 3,958 ASD cases and 38,983 controls nested in a large register-based cohort in Sweden. ASD case status was measured using a…
Roger, P-M; Risso, K; Hyvernat, H; Landraud, L; Vassallo, M; Dellamonica, J; de Salvador, F; Cua, E; Bernardin, G
2010-06-01
We performed urinary antigen tests for pneumococcus and Legionella for patients with community-acquired pneumonia (CAP), to prescribe a documented antibiotic therapy. We report the efficiency of low-spectrum antibiotic treatment, illustrating the inappropriateness of bacteriological respiratory sampling. Patients with CAP were enrolled from three different units; the pneumonia severity index was used to assess the disease. Respiratory samples were also listed. Low-spectrum antibiotic therapy was amoxicillin for pneumococcal infection, and macrolides or non-anti-pneumococcal fluoroquinolone for legionellosis. Six hundred and seventy-five CAP were diagnosed during the study period,, 150 with positive urinary antigen tests (23%), among which 108 pneumococcal infections (73%), 40 legionellosis (26%), and two mixed infections. The pneumonia severity index was 106+/-38. Amoxicillin was prescribed in 108 cases, fluoroquinolone in 24 cases, macrolide in 18 cases. The outcome was favourable for 138 patients (92%). Eighty three respiratory samples allowed identification of a bacterium for 58 patients (39%), among which 24 strains were not in the antibiotic spectrum: Haemophilus influenzae and Pseudmomonas aeruginosa in six cases, Staphylococcus aureus in five cases, Klebsiella pneumoniae in two cases, and another Gram negative bacillus in five cases. These strains were resistant in vitro to the prescribed treatment in 19/24 cases (79%). One out of 12 patients who died had a respiratory sample positive for Enterobacter spp strain resistant to the ongoing antibiotic treatment. The low-spectrum antibiotic therapy based on urinary antigen tests is efficient, and demonstrates respiratory tract colonisation with bacteriological strains usually considered as pathogenic.
Fetal Alcohol Spectrum Disorders: A Case Study
Glass, Leila; Mattson, Sarah N.
2017-01-01
This grand rounds manuscript reviews important considerations in developing case conceptualizations for individuals with a history of prenatal alcohol exposure. This case study provides an introduction to fetal alcohol spectrum disorders, diagnostic issues, a detailed description of the individual's history, presenting symptoms, neuropsychological test results, and an integrated summary. We describe a 9-year old girl diagnosed with a fetal alcohol spectrum disorder (FASD): Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE). This patient is a composite of a prototypical child who participated as part of a research project at the Center for Behavioral Teratology who was subsequently seen at an outpatient child psychiatry facility. PMID:28948136
Brief Report: Autism Spectrum Disorder and Substance Use Disorder: A Review and Case Study
ERIC Educational Resources Information Center
Rengit, Ashy C.; McKowen, James W.; O'Brien, Julie; Howe, Yamini J.; McDougle, Christopher J.
2016-01-01
There is limited literature available on the comorbidity between autism spectrum disorder (ASD) and substance use disorder (SUD). This paper reviews existing literature and exemplifies the challenges of treating this population with a case report of an adult male with ASD and DSM-5 alcohol use disorder. This review and case study seeks to…
[The case of an adult man with savant syndrome in the course of autism spectrum disorder].
Sipowicz, Kasper; Pietras, Tadeusz
2017-07-21
The paper reports on a case of 57-year man with autism spectrum disorder and epilepsy with an unusual feature of calendar calculation. Namely, this is the case of savant syndrome, which appears rarely in the course of various neuropsychiatric disorders. Commorbidity of epilepsy and autism particularly predispose to the aforementioned syndrome. In the presented case, apart from the calendar calculation, the man has high language abilities. As previous studies suggest, the extraordinary abilities among persons with savant syndrome works similarly to the language module in healthy persons. Savant syndrome may appear in any patient with neuropsychiatric disorders, particularly in those suffering from autism spectrum disorder with comorbid epilepsy.
Marí-Bauset, Salvador; Llopis-González, Agustín; Zazpe, Itziar; Marí-Sanchis, Amelia; Morales Suárez-Varela, Maria
2017-04-01
This case-control study investigated nutrient intake, healthy eating index with 10 items on foods and nutrients, on 3-day food diaries and anthropometric measurements in 105 children with autism spectrum disorder and 495 typically developing children (6-9 years) in Valencia (Spain). Children with autism spectrum disorder were at a higher risk for underweight, eating more legumes, vegetables, fiber, and some micronutrients (traditional Mediterranean diet) but fewer dairy and cereal products, and less iodine, sodium, and calcium than their typically developing peers. Differences existed in total energy intake but healthy eating index and food variety score differences were not significant. Autism spectrum disorder group failed to meet dietary recommendations for thiamin, riboflavin, vitamin C, or calcium. Risk of inadequate intake of fiber, vitamin E, and sodium was lower in children with autism spectrum disorder than typically developing children. Results suggest that (1) risk of inadequate intake of some micronutrients in children with autism spectrum disorder and (2) cultural patterns and environment may influence food intake and anthropometric characteristics in autism spectrum disorder. Primary care should include anthropometric and nutritional surveillance in this population to identify intervention on a case-by-case basis. Future research should explore dietary patterns and anthropometric characteristics in different autism spectrum disorder populations in other countries, enhancing our understanding of the disorder's impact.
College Students with Autism Spectrum Disorders: A Growing Role for Adult Psychiatrists
ERIC Educational Resources Information Center
van Schalkwyk, Gerrit I.; Beyer, Chad; Martin, Andrés; Volkmar, Fred R.
2016-01-01
Objective: Adolescents with autism spectrum disorders (ASD) are increasingly attending college. This case report highlights the nature of the psychiatric difficulties these individuals may face and the potential role for college mental health practitioners. Participants: A case of a female student with ASD presenting with significant inattentive…
ERIC Educational Resources Information Center
Dewinter, Jeroen; Van Parys, Hanna; Vermeiren, Robert; van Nieuwenhuizen, Chijs
2017-01-01
This qualitative study explored how adolescent boys with autism spectrum disorder experience their sexuality. Previous research has demonstrated that sexuality is a developmental task for boys with autism spectrum disorder, as it is for their peers. Case studies have suggested a relation between autism spectrum disorder and atypical sexual…
ERIC Educational Resources Information Center
Knox, Michael
2013-01-01
This action qualitative study with a case research design investigated the impact of facilitated communication (FC) on the educational lives of high school students with autism spectrum disorders (ASD). The effect of FC on nonverbal students and schools' reactions to FC were also examined. The results from the four case studies indicate that FC…
Social Competence Intervention in Autistic Spectrum Disorders (ASDS) - A Case Study
ERIC Educational Resources Information Center
Amin, Noor A.; Oweini, Ahmad
2013-01-01
The purpose of this case study was to determine the effectiveness of a combined intervention in remediating the social skills in a first-grader with a disorder from the autism spectrum disorders (ASDs). The researcher also aimed to identify the changes observed during the intervention period. The combined intervention consisted of reading…
Autistic Spectrum Disorder and Assistive Technology: Action Research Case Study of Reading Supports
ERIC Educational Resources Information Center
Lindsey, Pam
2012-01-01
This descriptive action research experience with case study procedures examined the use of best practices paired with assistive technologies as interventions to individualize fiction reading instruction for a high-functioning elementary student, JB (pseudonym), diagnosed with autistic spectrum disorder. JB's instructional, reading goals were to…
Nasa astronauts, prosthetics and the manned space program.
Frenger, Paul
2014-01-01
The author has collaborated with NASA astronauts, scientists and engineers since 2006. Manned deep space missions, beyond the Moons orbit, are being planned in this post-Shuttle era. The spacecraft required for longer flights will have relatively restricted crew interior volume. To decrease the negative impact of these tight quarters, the author has proposed recruiting smaller astronauts (abbreviated SAs), persons about one-half the height of current near-Earth crewmembers. This includes achondroplastic dwarfs, lower extremity amputees and persons with certain height-reducing birth defects such as phocomelia. To overcome issues of physical competence, strength and mobility of SAs, the author describes using advanced cybernetic prostheses for those with limb amputations or deformities, and motorized exoskeletons for the others. Muscle and bone-sparing space exercise programs for SAs should be simpler. For example, a motorized exoskeleton used for routine duties in space would also provide both resistance workouts and passive range of motion conditioning for the astronauts, even while resting. Complex personalized artificial intelligence functions may be added. These initial suggestions previously presented to NASA offer a starting point for deep space manned missions to the asteroid belt, Mars and beyond.
ERIC Educational Resources Information Center
Barcadepone, Michael J.
2012-01-01
The purpose of this case study was to investigate existing New Jersey case law for the special education population classified as Autism Spectrum Disorder (ASD) and analyze New Jersey Administrative Law Judge (ALJ) decisions to identify why districts win or lose cases, adding to the limited body of research in New Jersey. In addition, the purpose…
A Multiple Case Study Analysis Exploring Autism Spectrum Disorder as a Culture
ERIC Educational Resources Information Center
Hutto, Lori Lynn
2017-01-01
This qualitative multiple case study analysis included the exploration of the phenomenon of Autism Spectrum Disorder (ASD) from a cultural standpoint, rather than the traditional view of deficits caused by disability. This effort was undertaken to determine if those within this population would be better served by the educational system and more…
Epilepsy Among Children and Adolescents with Autism Spectrum Disorders: A Population-Based Study
ERIC Educational Resources Information Center
Jokiranta, Elina; Sourander, Andre; Suominen, Auli; Timonen-Soivio, Laura; Brown, Alan S.; Sillanpää, Matti
2014-01-01
The present population-based study examines associations between epilepsy and autism spectrum disorders (ASD). The cohort includes register data of 4,705 children born between 1987 and 2005 and diagnosed as cases of childhood autism, Asperger's syndrome or pervasive developmental disorders--not otherwise specified. Each case was matched to four…
Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and Developmental Delay
ERIC Educational Resources Information Center
Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva
2014-01-01
The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…
Time Trends in Reported Autism Spectrum Disorders in Israel, 1986-2005
ERIC Educational Resources Information Center
Gal, Gilad; Abiri, Lili; Reichenberg, Abraham; Gabis, Lidia; Gross, Raz
2012-01-01
Reports indicate sharp increase in prevalence of autism spectrum disorders (ASD). We aimed to assess the time trend in prevalence of ASD in Israel and describe demographic characteristics of the registered cases. We reviewed the autism registry of the Israeli Ministry of Social Affairs which includes 4,709 cases and identified 4,138 cases born…
ERIC Educational Resources Information Center
Bellini, Scott; McConnell, Luke L.
2010-01-01
Video-self modeling (VSM) is an effective but underused instructional strategy for youth on the autism spectrum. The authors present VSM in the context of strength-based educational programming for youth on the autism spectrum. The authors summarize research studies investigating VSM with youth on the autism spectrum in school settings and discuss…
1988-10-01
A statistical analysis on the output signals of an acousto - optic spectrum analyzer (AOSA) is performed for the case when the input signal is a...processing, Electronic warfare, Radar countermeasures, Acousto - optic , Spectrum analyzer, Statistical analysis, Detection, Estimation, Canada, Modelling.
ERIC Educational Resources Information Center
Douglas, Jessica F.; Sanders, Kevin B.; Benneyworth, M. Hannah; Smith, Jessica L.; DeJean, Virginia M.; McGrew, Susan G.; Veenstra-VanderWeele, Jeremy
2013-01-01
We examined response to oxcarbazepine prescribed for irritability/agitation symptoms in a retrospective case series of 30 patients with Autism Spectrum Disorder (ASD). The average patient was 12.0 years old (range 5-21) and taking two other psychotropic medications (range 0-4). Fourteen patients (47 %) had a clinical global impression of…
Nutritional Status of Children with Autism Spectrum Disorders (ASDs): A Case-Control Study
ERIC Educational Resources Information Center
Marí-Bauset, Salvador; Llopis-González, Agustín; Zazpe-García, Itziar; Marí-Sanchis, Amelia; Morales-Suárez-Varela, María
2015-01-01
Children with autism spectrum disorder (ASD) have problems of food selectivity, implying risks of nutritional deficiencies. The aim was to compare intakes of macro and micronutrients and body mass index in ASD and typically developing (TD) children. In a case--control study, 3-day food diaries and anthropometric measurements were completed for ASD…
ERIC Educational Resources Information Center
Wang, Shin-Yi; Parrila, Rauno
2008-01-01
In this paper, we describe a quality checklist that parents, teachers, clinicians, and policy-makers with basic research skills can use to systematically evaluate the methodological quality of single-case studies on social skill training of children with autistic spectrum disorder (ASD). We provide a rationale for included quality indicators, and…
Tratselas, Athanasios; Iosifidis, Elias; Ioannidou, Maria; Saoulidis, Stamatis; Kollios, Konstantinos; Antachopoulos, Charalampos; Sofianou, Danai; Roilides, Emmanuel J
2011-08-01
The outcome of patients with urinary tract infections caused by extended spectrum β-lactamases (ESBL)-producing bacteria (cases) was compared with that of matched controls with urinary tract infections caused by non-extended spectrum β-lactamases-producing isolates. Significantly, more case patients received inappropriate empiric therapy than controls. Nevertheless, clinical and microbiologic outcomes as well as formation of renal scars did not differ between the 2 groups.
Ünver, Buket; Öner, Özgür; Yurtbaşı, Pınar
2015-01-01
Schizotypal personality disorder is characterized by social and interpersonal deficits marked by discomfort with, and reduced capacity for, close relationships as well as by cognitive or perceptual distortions and eccentricities of behavior. Inappropriate or constricted affect, reduced capacity for relationships, lack of close friends and reduced capacity for social life are the symptoms that overlap both schizotypal personality disorder and autism spectrum disorders. The making of differential diagnosis may be difficult since several symptoms are similar between these disorders. In this study, we discussed the differential diagnosis issues on the basis of an adolescent case. Odd appearance, magical thoughts, reference thoughts suggests Schizotypal Personality Disorder whereas lack of eye contact at 2 years old, a preference to be isolated and play alone and referral to a child psychiatrist at 4 years old suggest Autism Spectrum Disorders. Based on the results of psychological assessment, Wechsler Intelligence Scale for Children-Revised (WISC-R) profile is compatible with autistic children's profiles. Based on Schizotypal Personality Questionnaire, the patient's anxiety, lack of close friends, constricted affect symptoms which take place in the category of interpersonal schizotypy seems to overlap with lack of communication of Autism Spectrum Disorders. This case report indicates that, separation of autism and schizophrenia, a very important historical breakthrough in autism research, may be blurred in cases with less typical clinical pictures representing autistic and schizophrenic "spectrum" diagnosis.
Peripheral Nerve Dysfunction in Middle-Aged Subjects Born with Thalidomide Embryopathy
Nicotra, Alessia; Newman, Claus; Johnson, Martin; Eremin, Oleg; Friede, Tim; Malik, Omar; Nicholas, Richard
2016-01-01
Background Phocomelia is an extremely rare congenital malformation that emerged as one extreme of a range of defects resulting from in utero exposure to thalidomide. Individuals with thalidomide embryopathy (TE) have reported developing symptoms suggestive of peripheral nervous system dysfunction in the mal-developed limbs in later life. Methods Case control study comparing TE subjects with upper limb anomalies and neuropathic symptoms with healthy controls using standard neurophysiological testing. Other causes of a peripheral neuropathy were excluded prior to assessment. Results Clinical examination of 17 subjects with TE (aged 50.4±1.3 [mean±standard deviation] years, 10 females) and 17 controls (37.9±9.0 years; 8 females) demonstrated features of upper limb compressive neuropathy in three-quarters of subjects. Additionally there were examination findings suggestive of mild sensory neuropathy in the lower limbs (n = 1), L5 radiculopathic sensory impairment (n = 1) and cervical myelopathy (n = 1). In TE there were electrophysiological changes consistent with a median large fibre neuropathic abnormality (mean compound muscle action potential difference -6.3 mV ([-9.3, -3.3], p = 0.0002) ([95% CI], p-value)) and reduced sympathetic skin response amplitudes (-0.8 mV ([-1.5, -0.2], p = 0.0089)) in the affected upper limbs. In the lower limbs there was evidence of sural nerve dysfunction (sensory nerve action potential -5.8 μV ([-10.7, -0.8], p = 0.0232)) and impaired warm perception thresholds (+3.0°C ([0.6, 5.4], p = 0.0169)). Conclusions We found a range of clinical features relevant to individuals with TE beyond upper limb compressive neuropathies supporting the need for a detailed neurological examination to exclude other treatable pathologies. The electrophysiological evidence of large and small fibre axonal nerve dysfunction in symptomatic and asymptomatic limbs may be a result of the original insult and merits further investigation. PMID:27100829
Irradiation tests of ITER candidate Hall sensors using two types of neutron spectra.
Ďuran, I; Bolshakova, I; Viererbl, L; Sentkerestiová, J; Holyaka, R; Lahodová, Z; Bém, P
2010-10-01
We report on irradiation tests of InSb based Hall sensors at two irradiation facilities with two distinct types of neutron spectra. One was a fission reactor neutron spectrum with a significant presence of thermal neutrons, while another one was purely fast neutron field. Total neutron fluence of the order of 10(16) cm(-2) was accumulated in both cases, leading to significant drop of Hall sensor sensitivity in case of fission reactor spectrum, while stable performance was observed at purely fast neutron spectrum. This finding suggests that performance of this particular type of Hall sensors is governed dominantly by transmutation. Additionally, it further stresses the need to test ITER candidate Hall sensors under neutron flux with ITER relevant spectrum.
ERIC Educational Resources Information Center
Bakian, Amanda V.; Bilder, Deborah A.; Carbone, Paul S.; Hunt, Tyler D.; Petersen, Brent; Rice, Catherine E.
2015-01-01
An independent validation was conducted of the Utah Autism and Developmental Disabilities Monitoring Network's (UT-ADDM) classification of children with autism spectrum disorder (ASD). UT-ADDM final case status (n = 90) was compared with final case status as determined by independent external expert reviewers (EERs). Inter-rater reliability…
ERIC Educational Resources Information Center
Paley, Blair; O'Connor, Mary J.; Baillie, Susan J.; Guiton, Gretchen; Stuber, Margaret L.
2009-01-01
Objectives: This article describes the use of fetal alcohol spectrum disorders (FASDs) as a theme to connect the learning of basic neurosciences with clinical applications across the age span within a systems-based, integrated curricular structure that emphasizes problem-based learning. Methods: In collaboration with the Centers for Disease…
ERIC Educational Resources Information Center
McCollow, Meaghan; Davis, Carol Ann; Copland, Michael
2013-01-01
This case study is intended for use in an educational leadership class to facilitate conversation on providing effective instructional practices to students on the autism spectrum. In particular, this case study demonstrates how a school district incorporated a research-based model into their system to provide support to teachers of students with…
ERIC Educational Resources Information Center
Lautenbacher, Susan L.
2013-01-01
This qualitative case study examines the perceptions of parents of students with autism spectrum disorder (ASD) towards family/school partnerships. Interviews were conducted with parents of children with autism that belonged to a parent support group in western Pennsylvania. The resulting interviews cast light on the motivators and barriers that…
Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder
ERIC Educational Resources Information Center
Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye
2017-01-01
Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.
Luo, Xiao-Qing; Li, Zeng-Zhao; Jing, Jun; Xiong, Wei; Li, Tie-Fu; Yu, Ting
2018-02-15
We theoretically investigate the spectral features of tunneling-induced transparency (TIT) and Autler-Townes (AT) doublet and triplet in a triple-quantum-dot system. By analyzing the eigenenergy spectrum of the system Hamiltonian, we can discriminate TIT and double TIT from AT doublet and triplet, respectively. For the resonant case, the presence of the TIT does not exhibit distinguishable anticrossing in the eigenenergy spectrum in the weak-tunneling regime, while the occurrence of double anticrossings in the strong-tunneling regime shows that the TIT evolves to the AT doublet. For the off-resonance case, the appearance of a new detuning-dependent dip in the absorption spectrum leads to double TIT behavior in the weak-tunneling regime due to no distinguished anticrossing occurring in the eigenenergy spectrum. However, in the strong-tunneling regime, a new detuning-dependent dip in the absorption spectrum results in AT triplet owing to the presence of triple anticrossings in the eigenenergy spectrum. Our results can be applied to quantum measurement and quantum-optics devices in solid systems.
Einerson, Brett D; Rodriguez, Christina E; Kennedy, Anne M; Woodward, Paula J; Donnelly, Meghan A; Silver, Robert M
2018-06-01
Magnetic resonance imaging is reported to have good sensitivity and specificity in the diagnosis of placenta accreta spectrum disorders, and is often used as an adjunct to ultrasound. But the additional utility of obtaining magnetic resonance imaging to assist in the clinical management of patients with placenta accreta spectrum disorders, above and beyond the information provided by ultrasound, is unknown. We aimed to determine whether magnetic resonance imaging provides data that may inform clinical management by changing the sonographic diagnosis of placenta accreta spectrum disorders. In all, 78 patients with sonographic evidence or clinical suspicion of placenta accreta spectrum underwent magnetic resonance imaging of the abdomen and pelvis in orthogonal planes through the uterus utilizing T1- and T2-weighted imaging sequences at the University of Utah and the University of Colorado from 1997 through 2017. The magnetic resonance imaging was interpreted by radiologists with expertise in diagnosis of placenta accreta spectrum who had knowledge of the sonographic interpretation and clinical risk factors for placenta accreta spectrum disorders. The primary outcome was a change in diagnosis from sonographic interpretation that could alter clinical management, which was defined a priori. Diagnostic accuracy was verified by surgical and histopathologic diagnosis at the time of delivery. A change in diagnosis that could potentially alter clinical management occurred in 28 (36%) cases. Magnetic resonance imaging correctly changed the diagnosis in 15 (19%), and correctly confirmed the diagnosis in 34 (44%), but resulted in an incorrect change in diagnosis in 13 (17%), and an incorrect confirmation of ultrasound diagnosis in 15 (21%). Magnetic resonance imaging was not more likely to change a diagnosis in the 24 cases of posterior and lateral placental location compared to anterior location (33% vs 37%, P = .84). Magnetic resonance imaging resulted in overdiagnosis in 23% and in underdiagnosis in 14% of all cases. When ultrasound suspected severe disease (percreta) in 14 cases, magnetic resonance imaging changed the diagnosis in only 2 cases. Lastly, the proportion of accurate diagnosis with magnetic resonance imaging did not improve over time (61-65%, P = .96 for trend) despite increasing volume and increasing numbers of changed diagnoses. Magnetic resonance imaging resulted in a change in diagnosis that could alter clinical management of placenta accreta spectrum disorders in more than one third of cases, but when changed, the diagnosis was often incorrect. Given its high cost and limited clinical value, magnetic resonance imaging should not be used routinely as an adjunct to ultrasound in the diagnosis of placenta accreta spectrum until evidence for utility is clearly demonstrated by more definitive prospective studies. Copyright © 2018 Elsevier Inc. All rights reserved.
ERIC Educational Resources Information Center
Neeley, Richard A.; Pulliam, Mary Hannah; Catt, Merrill; McDaniel, D. Mike
2015-01-01
This case study examined the initial and renewed impact of speech generating devices on the expressive communication behaviors of a child with autism spectrum disorder. The study spanned six years of interrupted use of two speech generating devices. The child's communication behaviors were analyzed from video recordings and included communication…
ERIC Educational Resources Information Center
Pinto, Prasopsuk Y.
2014-01-01
The purpose of this collection of multiple case studies was to examine teachers' perspectives and practices to determine whether instructional strategies implemented in their classrooms to promote literacy skills for students with autism spectrum disorders were described as research-based practices. Although extensive research has been conducted…
ERIC Educational Resources Information Center
Miller, Judith S.; Bilder, Deborah; Farley, Megan; Coon, Hilary; Pinborough-Zimmerman, Judith; Jenson, William; Rice, Catherine E.; Fombonne, Eric; Pingree, Carmen B.; Ritvo, Edward; Ritvo, Riva-Ariella; McMahon, William M.
2013-01-01
The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59%) of the 108 originally "Diagnosed Not Autistic" met the current ASD case definition.…
Spectrum of perforation peritonitis in India--review of 504 consecutive cases.
Jhobta, Rajender Singh; Attri, Ashok Kumar; Kaushik, Robin; Sharma, Rajeev; Jhobta, Anupam
2006-09-05
Perforation peritonitis is the most common surgical emergency in India. The spectrum of etiology of perforation in Tropical countries continues to be different from its Western counterpart. The objective of the study was to highlight the spectrum of perforation peritonitis as encountered by us at Government Medical College and Hospital (GMCH), Chandigarh. Five hundred and four consecutive cases of perforation peritonitis over a period of five years were reviewed in terms of clinical presentation, operative findings and postoperative course retrospectively at GMCH, Chandigarh. The most common cause of perforation in our series was perforated duodenal ulcer (289 cases) followed by appendicitis (59 cases), gastrointestinal perforation due to blunt trauma abdomen (45 cases), typhoid fever (41 cases) and tuberculosis (20 cases). Despite delay in seeking medical treatment (53%), the overall mortality (10%) was favourably comparable with other published series though the overall morbidity (50%) was unusually high. In contrast to western literature, where lower gastrointestinal tract perforations predominate, upper gastrointestinal tract perforations constitute the majority of cases in India. The increasing incidence of post-traumatic gastro-enteric injuries may be due to an increase in high speed motor vehicle accidents which warrant early recognition and prompt treatment to avoid serious complications and death.
DiGuiseppi, Carolyn G.; Daniels, Julie L.; Fallin, Daniele M.; Rosenberg, Steven A.; Schieve, Laura A.; Thomas, Kathleen C.; Windham, Gayle C.; Goss, Cynthia W.; Soke, Gnakub N.; Currie, Dustin W.; Singer, Alison B.; Lee, Li-Ching; Bernal, Pilar; Croen, Lisa A.; Miller, Lisa A.; Pinto-Martin, Jennifer A.; Young, Lisa M.; Schendel, Diana E.
2016-01-01
Background The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. Objective This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. Methods This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2–5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child's primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. Results Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. Conclusions SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes. PMID:26917104
DiGuiseppi, Carolyn G; Daniels, Julie L; Fallin, Daniele M; Rosenberg, Steven A; Schieve, Laura A; Thomas, Kathleen C; Windham, Gayle C; Goss, Cynthia W; Soke, Gnakub N; Currie, Dustin W; Singer, Alison B; Lee, Li-Ching; Bernal, Pilar; Croen, Lisa A; Miller, Lisa A; Pinto-Martin, Jennifer A; Young, Lisa M; Schendel, Diana E
2016-07-01
The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2-5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child's primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes. Copyright © 2016 Elsevier Inc. All rights reserved.
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?
Jaeger, April; Kapur, Raj; Whelan, Michael; Leung, Eric; Cunningham, Michael
2003-06-01
In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects Research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).
ERIC Educational Resources Information Center
Helverschou, Sissel Berge; Rasmussen, Kirsten; Steindal, Kari; Søndanaa, Erik; Nilsson, Britta; Nøttestad, Jim Aage
2015-01-01
This study examined the characteristics of adults with autism spectrum disorder who have undergone a forensic examination and explored any relationships between the diagnosis and the offence. The reports described 41 men and 7 women. The autism spectrum disorder was diagnosed late (mean age: 25.3?years), and 22 of the 48 cases were diagnosed with…
A Full Spectrum Case for the Heavy Force
2011-03-01
PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Professor John Bonin Concepts, Doctrine, and General Officer Updates Office 8. PERFORMING...SPECTRUM CASE FOR THE HEAVY FORCE by Colonel Richard D. Creed, Jr. United States Army Dr. John Bonin Project...8 Ibid.; also. Programs Branch Common Operating Picture 2010 Briefing. 9 Colonel (R) John Bonin , Ph. D., in an email to the author on 21 DEC 10. Dr
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
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.
Validation of IRDFF in 252Cf standard and IRDF-2002 reference neutron fields
DOE Office of Scientific and Technical Information (OSTI.GOV)
Simakov, Stanislav; Capote Noy, Roberto; Greenwood, Lawrence R.
The results of validation of the latest release of International Reactor Dosimetry and Fusion File, IRDFF-1.03, in the standard 252Cf(s.f.) and reference 235U(nth,f) neutron benchmark fields are presented. The spectrum-averaged cross sections were shown to confirm the recommended spectrum for 252Cf spontaneous fission source; that was not the case for the current recommended spectra for 235U(nth,f). IRDFF was also validated in the spectra of the research reactor facilities ISNF, Sigma-Sigma and YAYOI, which are available in the IRDF- 2002 collection. Before this analysis, the ISFN spectrum was resimulated to remove unphysical oscillations in spectrum. IRDFF-1.03 was shown to reasonably reproducemore » the spectrum-averaged data measured in these fields except for the case of YAYOI.« less
ERIC Educational Resources Information Center
Whalon, Kelly J.; Conroy, Maureen A.; Martinez, Jose R.; Werch, Brittany L.
2015-01-01
The purpose of this review was to critically examine and summarize the impact of school-based interventions designed to facilitate the peer-related social competence of children with autism spectrum disorder (ASD). Reviewed studies employed a single-case experimental design, targeted peer-related social competence, included children 3-12 years old…
Genetics Home Reference: White-Sutton syndrome
... the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by ... to 1 in 700 cases of intellectual disability, autism spectrum disorder , or both. However, most of these ...
Hassan, Suha M; Harteveld, Cornelis L; Bakker, Egbert; Giordano, Piero C
2015-01-01
The objective of this study was to expand and study the molecular spectrum of β-thalassemia (β-thal) mutations in Oman by examining cases from seven different regions and comparing the prevalence with neighboring countries. A total of 446 cases of β hemoglobinopathies was obtained and analyzed to determine the frequency and distribution of the different β alleles. The molecular spectrum of β-thal in Oman revealed the presence of 32 mutations from different origins and 11 alleles are reported for the first time in the Omani population. The wide heterogeneous spectrum of β-thal mutations found can be associated with the history of trade and migration as well as the past domination from other countries. The presented data will facilitate the development of a comprehensive prevention strategy in Oman.
Aripiprazole-Related Diurnal Enuresis in Children: 2 Cases (Aripiprazole-Related Enuresis).
Gunes, Serkan
Aripiprazole is an atypical antipsychotic with dopaminergic and serotonergic effects. Enuresis as an adverse effect has been reported with aripiprazole use in children with autism spectrum disorders. Here, we report 2 cases without autism spectrum disorders who developed diurnal enuresis after starting aripiprazole and ceased after discontinuation of the medication.
Oral Health among Preschool Children with Autism Spectrum Disorders: A Case-Control Study
ERIC Educational Resources Information Center
Du, Rennan Y; Yiu, Cynthia K. Y.; King, Nigel M.; Wong, Virginia C. N.; McGrath, Colman P. J.
2015-01-01
Aim: To assess and compare the oral health status of preschool children with and without autism spectrum disorders. Methods: A random sample of 347 preschool children with autism spectrum disorder was recruited from 19 Special Child Care Centres in Hong Kong. An age- and gender-matched sample was recruited from mainstream preschools as the control…
ERIC Educational Resources Information Center
Wang, Xianhui; Laffey, James; Xing, Wanli; Galyen, Krista; Stichter, Janine
2017-01-01
This case study describes the verbal and nonverbal social interaction of 11 youth with Autism Spectrum Disorders in a 3D Collaborative Virtual Learning Environment-iSocial. The youth were developing social competence through participation in a social competence intervention curriculum implemented online so as to provide access to high quality…
Myopericarditis associated with Fusobacterium nucleatum-caused liver abscess.
Kearney, Alexis; Knoll, Bettina
2015-03-01
A wide clinical spectrum of bacteremic disease caused by Fusobacterium has been presented in this journal. We wish to extend this spectrum by presenting a case of myopericarditis resulting from a liver abscess caused by F. nucleatum. While F. nucleatum plays an important role in periodontal disease, and has been isolated from skin ulcers, liver abscesses, urinary tract infections, and endocarditis, a single case of F. nucleatum-induced pericarditis is documented in the literature.
The effects of bell vibrations on the acoustic spectrum of the trumpet
NASA Astrophysics Data System (ADS)
Moore, Thomas R.
2003-04-01
The acoustic spectrum of a modern trumpet with the bell section heavily damped has been compared to the spectrum of the same instrument with the bell section left free to vibrate. The amplitude of vibration of the metal was measured in both cases and was shown to be significantly different between the two sets of measurements. Artificial lips were used to ensure consistency between trials. A significant change in the acoustic spectrum between the two cases is found, with the variation being largest in the lower harmonics where the relative power may change by as much as a factor of 2. It is shown that the changes can be explained by a variation in the viscous boundary layer that is attributable to the vibrating walls of the bell. [Work supported by a grant from the Jessie Ball duPont Fund.
Methyl Group Internal Rotation in the Pure Rotational Spectrum of 1,1-DIFLUOROACETONE
NASA Astrophysics Data System (ADS)
Grubbs, G. S. Grubbs, II; Cooke, S. A.; Groner, P.
2011-06-01
We have used chirped pulse Fourier transform microwave spectroscopy to record the pure rotational spectrum of the title molecule. The spectrum was doubled owing to the internal rotation of the methyl group. The spectrum has been assigned and two approaches to the spectral analysis have been performed. In the first case, the A and E components were fit separately using a principal axis method with the SPFIT code of Pickett. In the second case, the A and E states were fit simultaneously using the ERHAM code. For a satisfactory analysis of the spectral data it has been found that the choice of Hamiltonian reduction, i.e. Watson A or S, is very important. The barrier to the internal rotation has been determined to be 261.1(8) Cm-1 and it will be compared to that of acetone and other halogenated acetone species recently studied in our laboratory.
Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report.
Brown, Bradley D; Rais, Theodore
2015-01-01
The relationship between autism spectrum disorders and mitochondrial dysfunction, including mitochondrial myopathies and other mitochondrial diseases, is an area of ongoing research. All autism spectrum disorders are known to be heritable, via genetic and/or epigenetic mechanisms, but specific modes of inheritance are not well characterized. Nevertheless, autism spectrum disorders have been linked to many specific genes associated with mitochondrial function, especially to genes involved in mitochondrial tRNA and the electron transport chain, both particularly vulnerable to point mutations, and clinical research also supports a relationship between the two pathologies. Although only a small minority of patients with autism have a mitochondrial disease, many patients with mitochondrial myopathies have autism spectrum disorder symptoms, and these symptoms may be the presenting symptoms, which presents a diagnostic challenge for clinicians. The authors report the case of a 15-year-old boy with a history of autism spectrum disorder and neurocardiogenic syncope, admitted to the inpatient unit for self-injury, whose young mother, age 35, was discovered to suffer from mitochondrial myopathy, dysautonomia, neurocardiogenic syncope, Ehler-Danlos syndrome, and other uncommon multisystem pathologies likely related to mitochondrial dysfunction. This case illustrates the need for a high index of suspicion for mitochondrial disease in patients with autism, as they have two orders of magnitude greater risk for such diseases than the general population. The literature shows that mitochondrial disease is underdiagnosed in autism spectrum disorder patients and should not be viewed as a "zebra" (i.e., an obscure diagnosis that is made when a more common explanation is more likely).
Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Rais, Theodore
2015-01-01
The relationship between autism spectrum disorders and mitochondrial dysfunction, including mitochondrial myopathies and other mitochondrial diseases, is an area of ongoing research. All autism spectrum disorders are known to be heritable, via genetic and/or epigenetic mechanisms, but specific modes of inheritance are not well characterized. Nevertheless, autism spectrum disorders have been linked to many specific genes associated with mitochondrial function, especially to genes involved in mitochondrial tRNA and the electron transport chain, both particularly vulnerable to point mutations, and clinical research also supports a relationship between the two pathologies. Although only a small minority of patients with autism have a mitochondrial disease, many patients with mitochondrial myopathies have autism spectrum disorder symptoms, and these symptoms may be the presenting symptoms, which presents a diagnostic challenge for clinicians. The authors report the case of a 15-year-old boy with a history of autism spectrum disorder and neurocardiogenic syncope, admitted to the inpatient unit for self-injury, whose young mother, age 35, was discovered to suffer from mitochondrial myopathy, dysautonomia, neurocardiogenic syncope, Ehler-Danlos syndrome, and other uncommon multisystem pathologies likely related to mitochondrial dysfunction. This case illustrates the need for a high index of suspicion for mitochondrial disease in patients with autism, as they have two orders of magnitude greater risk for such diseases than the general population. The literature shows that mitochondrial disease is underdiagnosed in autism spectrum disorder patients and should not be viewed as a “zebra” (i.e., an obscure diagnosis that is made when a more common explanation is more likely). PMID:26634179
Field, Timothy R; Bain, Alex D
2014-01-01
For a nucleus with a half-integral spin and a strong quadrupole coupling, the central transition (from magnetic quantum number -1/2 to +1/2) in the spectrum shows a characteristic lineshape. By strong coupling, we mean an interaction strong enough so that second-order perturbation theory is needed, yet still sufficient. The spectrum of a static sample is well-known and the magic-angle-spinning (MAS spectrum) is different, but still can be calculated. The important features of both these spectra are singularities and steps in the lineshape, since these are the main tools in fitting the calculated spectrum to experimental data. A useful tool in this investigation is a plot of the frequency as a function of orientation over the surface of the unit sphere. These plots have maxima, minima and saddle points, and these correspond to the features of the spectrum. We used these plots to define both the positions and derive new formulae for the heights of the features and we now extend this to the magic-angle spinning case. For the first time, we identify the orientations corresponding to the features of the MAS spectra and derive formulae for the heights. We then compare the static and MAS cases and show the relationships between the features in the two spectra. Copyright © 2014 Elsevier Inc. All rights reserved.
Entanglement complexity in quantum many-body dynamics, thermalization, and localization
NASA Astrophysics Data System (ADS)
Yang, Zhi-Cheng; Hamma, Alioscia; Giampaolo, Salvatore M.; Mucciolo, Eduardo R.; Chamon, Claudio
2017-07-01
Entanglement is usually quantified by von Neumann entropy, but its properties are much more complex than what can be expressed with a single number. We show that the three distinct dynamical phases known as thermalization, Anderson localization, and many-body localization are marked by different patterns of the spectrum of the reduced density matrix for a state evolved after a quantum quench. While the entanglement spectrum displays Poisson statistics for the case of Anderson localization, it displays universal Wigner-Dyson statistics for both the cases of many-body localization and thermalization, albeit the universal distribution is asymptotically reached within very different time scales in these two cases. We further show that the complexity of entanglement, revealed by the possibility of disentangling the state through a Metropolis-like algorithm, is signaled by whether the entanglement spectrum level spacing is Poisson or Wigner-Dyson distributed.
ERIC Educational Resources Information Center
Coggins, Truman E.; Timler, Geralyn R.; Olswang, Lesley B.
2007-01-01
Purpose: This article is a retrospective examination of environmental risk, language performance, and narrative discourse data from a clinical database of school-age children with fetal alcohol spectrum disorder (FASD). Method: A case-defined diagnostic approach for measuring and reporting the full spectrum of disabilities in children with…
Paranoid personality disorder and the schizophrenia spectrum-Where to draw the line?
Birkeland, Søren Fryd
2013-08-01
By means of a case vignette, this study explores the clinical intersection between paranoid personality disorder and other schizophrenia-spectrum illness. Even though the patient described had paramount signs of a paranoid personality disorder and was diagnosed as such, psychopathological symptoms extended considerably beyond the common concept and diagnostic criteria of the disorder. Management strategies included psychopharmacological and non-pharmacological interventions, yet psychosocial functioning permanently appeared defective. While there is a persistent need for an opportunity to distinguish the characteristic syndromal pattern of paranoid personality attributes, the case exemplifies the challenges associated with classifying some largely suspicious and distrustful eccentrics within the schizophrenia spectrum. Copyright © 2013 John Wiley & Sons, Ltd.
Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases.
Muci-Mendoza, R; Ramella, M; Fuenmayor-Rivera, D
2002-03-01
To describe a distinctive spectrum of retinal microvascular abnormalities in 12 patients with neurofibromatosis type 1 (NF-1). This is an observational prospective study of the ocular fundus evaluated by direct ophthalmoscopy with or without fluorescein angiography, to investigate retinal microvascular abnormalities in 32 patients with NF-1 and in 30 control subjects. The evaluation included a complete general and neurological physical examination and in some cases computed tomography, magnetic resonance imaging with gadolinium-DTPA, or both. The occurrence of a distinctive spectrum of retinal microvascular abnormalities is described in 12 patients with NF-1 (37.5%). At the lower end of the spectrum, present in 10 patients, the anomaly consisted of minuscule second or third order tortuous venules, which were called "corkscrew retinal vessels." These were usually isolated but in a few cases multiple. They flow towards the superior or inferior temporal veins. They had a length of one to two disc diameters. They ended either in a minute tuft or vanished on the retinal surface. The upper end of the spectrum was seen in only two patients. One of them had an exceptionally large venous anastomosis on the nasal retina and the other had an arteriovenous malformation extending over one retinal quadrant. None of the patients in the control group had such retinal microvascular abnormalities. The "corkscrew" retinal vessels described in this report constitute a broad spectrum of microvascular markers in NF-1 patients.
ERIC Educational Resources Information Center
Koch, Sabine C.; Mehl, Laura; Sobanski, Esther; Sieber, Maik; Fuchs, Thomas
2015-01-01
From the 1970s on, case studies reported the effectiveness of therapeutic mirroring in movement with children with autism spectrum disorder. In this feasibility study, we tested a dance movement therapy intervention based on mirroring in movement in a population of 31 young adults with autism spectrum disorder (mainly high-functioning and…
ERIC Educational Resources Information Center
Harrop, Clare
2015-01-01
Restricted and repetitive behaviors represent a core symptom of autism spectrum disorders. While there has been an increase in research into this domain in recent years, compared to social-communication impairments experienced by children with autism spectrum disorders, much less is known about their development, etiology, and management.…
Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; Chen, Suh-Jen; Li, Shuan-Yow; Chen, Hsiao-Neng
2007-10-01
Oculo-auriculo-vertebral spectrum, the exact genetic predisposition of which has not yet been resolved, is characterized by varying degrees of the prevalently unilateral underdevelopment of craniofacial structures and spinal anomalies. Here, we analyzed four cases exhibiting multiple features of oculo-auriculo-vertebral spectrum and one case with Treacher-Collins syndrome. The cranium was analyzed using three-dimensional computed tomography, which reliably identifies craniofacial malformations. We detected one typical oculo-auriculo-vertebral spectrum patient who had a missense mutation in exon 9 of the TCOF1 gene complex and two silent mutations in exons 10 and 23, three partial oculo-auriculo-vertebral spectrum patients who had no detectable mutations in the TCOF1 gene complex, and one Treacher-Collins syndrome patient who had a nonsense mutation in exon 14. All five patients had eight previously reported polymorphic changes in the TCOF1 exons 10, 11, 12, 16, 21, 22, and 23, and four unreported polymorphisms in exons 9, 17, and 22 that were also detected in 51 Taiwanese control patients. These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms.
NASA Astrophysics Data System (ADS)
Jiang, Kaili; Zhu, Jun; Tang, Bin
2017-12-01
Periodic nonuniform sampling occurs in many applications, and the Nyquist folding receiver (NYFR) is an efficient, low complexity, and broadband spectrum sensing architecture. In this paper, we first derive that the radio frequency (RF) sample clock function of NYFR is periodic nonuniform. Then, the classical results of periodic nonuniform sampling are applied to NYFR. We extend the spectral reconstruction algorithm of time series decomposed model to the subsampling case by using the spectrum characteristics of NYFR. The subsampling case is common for broadband spectrum surveillance. Finally, we take example for a LFM signal under large bandwidth to verify the proposed algorithm and compare the spectral reconstruction algorithm with orthogonal matching pursuit (OMP) algorithm.
Power-law modulation of the scalar power spectrum from a heavy field with a monomial potential
NASA Astrophysics Data System (ADS)
Huang, Qing-Guo; Pi, Shi
2018-04-01
The effects of heavy fields modulate the scalar power spectrum during inflation. We analytically calculate the modulations of the scalar power spectrum from a heavy field with a separable monomial potential, i.e. V(phi)~ phin. In general the modulation is characterized by a power-law oscillation which is reduced to the logarithmic oscillation in the case of n=2.
The role of boundary variability in polycrystalline grain-boundary diffusion
NASA Astrophysics Data System (ADS)
Moghadam, M. M.; Rickman, J. M.; Harmer, M. P.; Chan, H. M.
2015-01-01
We investigate the impact of grain-boundary variability on mass transport in a polycrystal. More specifically, we perform both numerical and analytical studies of steady-state diffusion in prototypical microstructures in which there is either a discrete spectrum of grain-boundary activation energies or else a complex distribution of grain-boundary character, and hence a continuous spectrum of boundary activation energies. An effective diffusivity is calculated for these structures using simplified multi-state models and, for the case of a continuous spectrum, employing experimentally obtained grain-boundary energy data. We identify different diffusive regimes for these cases and quantify deviations from Arrhenius behavior using effective medium theory. Finally, we examine the diffusion kinetics of a simplified model of an interfacial layering (i.e., complexion) transition.
[The relationship between MMR vaccination level and the number of new cases of autism in children].
Mrozek-Budzyn, Dorota; Kiełtyka, Agnieszka
2008-01-01
The MMR vaccination coverage in Malopolskie voivodeship improved rapidly and finally reached a high level during last years. The number of new cases of autism spectrum disorders in children during that time revealed a slightly rising but not significant trend, while the number of childhood autism were stable. Ecological study showed no correlation between MMR vaccination and an increased risk of childhood autism and autism spectrum disorders in children.
Sharp inflaton potentials and bi-spectra: effects of smoothening the discontinuity
DOE Office of Scientific and Technical Information (OSTI.GOV)
Martin, Jérôme; Sriramkumar, L.; Hazra, Dhiraj Kumar, E-mail: jmartin@iap.fr, E-mail: sriram@physics.iitm.ac.in, E-mail: dhiraj@apctp.org
Sharp shapes in the inflaton potentials often lead to short departures from slow roll which, in turn, result in deviations from scale invariance in the scalar power spectrum. Typically, in such situations, the scalar power spectrum exhibits a burst of features associated with modes that leave the Hubble radius either immediately before or during the epoch of fast roll. Moreover, one also finds that the power spectrum turns scale invariant at smaller scales corresponding to modes that leave the Hubble radius at later stages, when slow roll has been restored. In other words, the imprints of brief departures from slowmore » roll, arising out of sharp shapes in the inflaton potential, are usually of a finite width in the scalar power spectrum. Intuitively, one may imagine that the scalar bi-spectrum too may exhibit a similar behavior, i.e. a restoration of scale invariance at small scales, when slow roll has been reestablished. However, in the case of the Starobinsky model (viz. the model described by a linear inflaton potential with a sudden change in its slope) involving the canonical scalar field, it has been found that, a rather sharp, though short, departure from slow roll can leave a lasting and significant imprint on the bi-spectrum. The bi-spectrum in this case is found to grow linearly with the wavenumber at small scales, a behavior which is clearly unphysical. In this work, we study the effects of smoothening the discontinuity in the Starobinsky model on the scalar bi-spectrum. Focusing on the equilateral limit, we analytically show that, for smoother potentials, the bi-spectrum indeed turns scale invariant at suitably large wavenumbers. We also confirm the analytical results numerically using our newly developed code BINGO. We conclude with a few comments on certain related points.« less
Signatures of graviton masses on the CMB
NASA Astrophysics Data System (ADS)
Brax, Philippe; Cespedes, Sebastian; Davis, Anne-Christine
2018-03-01
The impact of the existence of gravitons with non-vanishing masses on the B-modes of the Cosmic Microwave Background (CMB) is investigated. We also focus on putative modifications to the speed of the gravitational waves. We find that a change of the graviton speed shifts the acoustic peaks of the CMB and then could be easily constrained. For the case of massive gravity, we show analytically how the B-modes are sourced in a manner differing from the massless case leading to a plateau at low l in the CMB spectrum. We also study the case when there are more than one graviton, and when pressure instabilities are present. The latter would occur in doubly coupled bigravity in the radiation era. We focus on the case where a massless graviton becomes tachyonic in the radiation era whilst a massive one remains stable. As the unstable mode decouples from matter in the radiation era, we find that the effects of the instability is largely reduced on the spectrum of B-modes as long as the unstable graviton does not grow into the non-linear regime. In all cases when both massless and massive gravitons are present, we find that the B-mode CMB spectrum is characterised by a low l plateau together with a shifted position for the first few peaks compared to a purely massive graviton spectrum, a shift which depends on the mixing between the gravitons in their coupling to matter and could serve as a hint in favour of the existence of multiple gravitons.
Opportunistic tri-band carrier aggregation in licensed spectrum for multi-operator 5G hetnet
NASA Astrophysics Data System (ADS)
Maksymuk, Taras; Kyryk, Maryan; Klymash, Mykhailo; Jo, Minho; Romaniuk, Ryszard; Kotyra, Andrzej; Zhanpeisova, Aizhan; Kozbekova, Ainur
2017-08-01
Increasing capacity of mobile networks is a real challenge due to rapid increasing of traffic demands and spectrum scarcity. Carrier aggregation technology is aimed to increase the user data rate by combining the throughput of few spectrum bands, even if they are not physically collocated. Utilization of unlicensed Wi-Fi 5 GHz band for mobile transmission opens new perspectives for carrier aggregation due to vast amount of spectrum range, which can be available for aggregation to supplement data rates for end users. There are many solutions proposed to enable mobile data transmission in unlicensed band without disturbing interference for the existing Wi-Fi users. The paper presents a new approach for opportunistic carrier aggregation in licensed and unlicensed band for multi-operator 5G network. It allows multiple network operators to utilize unlicensed spectrum opportunistically if it is not currently used by Wi-Fi or other mobile network operators. Performance of the proposed approach has been simulated in case of two competing operators. Simulation results reveal that applying the proposed method ensures achieving satisfactory performance of carrier aggregation for the case of two network operators.
Metaphor Comprehension in Autistic Spectrum Disorders: Case Studies of Two High-Functioning Children
ERIC Educational Resources Information Center
Melogno, Sergio; D'Ardia, Caterina; Pinto, Maria Antonietta; Levi, Gabriel
2012-01-01
This article presents case studies on metaphor comprehension in two boys with high-functioning autistic spectrum disorder, aged 9;1 (9 years, 1 month) and 8;11. The participants were assessed twice, before and after an intervention program aimed at improving their social skills. The focus of the article is on the specific patterns exhibited by…
ERIC Educational Resources Information Center
Marí-Bauset, Salvador; Llopis-González, Agustín; Zazpe, Itziar; Marí-Sanchis, Amelia; Morales Suárez-Varela, Maria
2017-01-01
This case-control study investigated nutrient intake, healthy eating index with 10 items on foods and nutrients, on 3-day food diaries and anthropometric measurements in 105 children with autism spectrum disorder and 495 typically developing children (6-9 years) in Valencia (Spain). Children with autism spectrum disorder were at a higher risk for…
The Spectrum of Mutations in Progranulin
Yu, Chang-En; Bird, Thomas D.; Bekris, Lynn M.; Montine, Thomas J.; Leverenz, James B.; Steinbart, Ellen; Galloway, Nichole M.; Feldman, Howard; Woltjer, Randall; Miller, Carol A.; Wood, Elisabeth McCarty; Grossman, Murray; McCluskey, Leo; Clark, Christopher M.; Neumann, Manuela; Danek, Adrian; Galasko, Douglas R.; Arnold, Steven E.; Chen-Plotkin, Alice; Karydas, Anna; Miller, Bruce L.; Trojanowski, John Q.; Lee, Virginia M.-Y.; Schellenberg, Gerard D.; Van Deerlin, Vivianna M.
2010-01-01
Background Mutation in the progranulin gene (GRN) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations. Objectives To delineate the range of clinical presentations associated with GRN mutations and to define pathogenic candidacy of rare GRN variants. Design Case-control study. Setting Clinical and neuropathology dementia research studies at 8 academic centers. Participants Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressive supranuclear palsy, Pick disease, dementia lacking distinctive histopathology, and pathologically confirmed cases of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U); and 111 non-FTD cases (controls) in which TDP-43 deposits were a prominent neuropathological feature, including subjects with ALS, Guam ALS and/or parkinsonism dementia complex, Guam dementia, Alzheimer disease, multiple system atrophy, and argyrophilic grain disease. Main Outcome Measures Variants detected on sequencing of all 13 GRN exons and at least 80 base pairs of flanking introns, and their pathogenic candidacy determined by in silico and ex vivo splicing assays. Results We identified 58 genetic variants that included 26 previously unknown changes. Twenty-four variants appeared to be pathogenic, including 8 novel mutations. The frequency of GRN mutations was 6.9% (30 of 434) of all FTD-spectrum cases, 21.4% (9 of 42) of cases with a pathological diagnosis of FTLD-U, 16.0% (28 of 175) of FTD-spectrum cases with a family history of a similar neurodegenerative disease, and 56.2% (9 of 16) of cases of FTLD-U with a family history. Conclusions Pathogenic mutations were found only in FTD-spectrum cases and not in other related neurodegenerative diseases. Haploinsufficiency of GRN is the predominant mechanism leading to FTD. PMID:20142524
Figueroa, Michelle; Guo, Yong; Tselis, Alexandros; Pittock, Sean J.; Lennon, Vanda A.; Lucchinetti, Claudia F.; Lisak, Robert P.
2014-01-01
IMPORTANCE Reports of neuromyelitis optica spectrum disorder (NMOSD) occurring in the setting of neoplasia suggest that aquaporin-4 autoimmunitymay in some cases have a paraneoplastic basis. OBSERVATIONS In this case report, we describe a patient with NMOSD whose test results were seropositive for aquaporin-4 IgG and who had a hepatic metastasis from a small-bowel neuroendocrine tumor. The tumor cells expressed aquaporin-4 immunoreactivity. She presented to the Neurology Department at Wayne State University with bilateral leg weakness, ascending paresthesias, and decreased sensation. CONCLUSIONS AND RELEVANCE This case extends the context of NMOSD as a paraneoplastic disorder. PMID:24733266
Stavropoulos, Katherine Kuhl-Meltzoff; Bolourian, Yasamine; Blacher, Jan
2018-01-01
Autism spectrum disorder (ASD) is estimated to affect one in 68 children. Given the increase in both prevalence and awareness of ASD, it is critical to provide accurate and timely diagnosis. However, ASD often co-occurs with other disorders, making diagnosis difficult. The objective of the current case study was to provide two examples of differential diagnosis in ASD and post-traumatic stress disorder (PTSD) observed in an autism clinic. In both cases, the goal was to decide whether each child should be given a diagnosis of ASD, PTSD, or both. PMID:29642485
DOE Office of Scientific and Technical Information (OSTI.GOV)
Ensslin, Torsten A.; Frommert, Mona
2011-05-15
The optimal reconstruction of cosmic metric perturbations and other signals requires knowledge of their power spectra and other parameters. If these are not known a priori, they have to be measured simultaneously from the same data used for the signal reconstruction. We formulate the general problem of signal inference in the presence of unknown parameters within the framework of information field theory. To solve this, we develop a generic parameter-uncertainty renormalized estimation (PURE) technique. As a concrete application, we address the problem of reconstructing Gaussian signals with unknown power-spectrum with five different approaches: (i) separate maximum-a-posteriori power-spectrum measurement and subsequentmore » reconstruction, (ii) maximum-a-posteriori reconstruction with marginalized power-spectrum, (iii) maximizing the joint posterior of signal and spectrum, (iv) guessing the spectrum from the variance in the Wiener-filter map, and (v) renormalization flow analysis of the field-theoretical problem providing the PURE filter. In all cases, the reconstruction can be described or approximated as Wiener-filter operations with assumed signal spectra derived from the data according to the same recipe, but with differing coefficients. All of these filters, except the renormalized one, exhibit a perception threshold in case of a Jeffreys prior for the unknown spectrum. Data modes with variance below this threshold do not affect the signal reconstruction at all. Filter (iv) seems to be similar to the so-called Karhune-Loeve and Feldman-Kaiser-Peacock estimators for galaxy power spectra used in cosmology, which therefore should also exhibit a marginal perception threshold if correctly implemented. We present statistical performance tests and show that the PURE filter is superior to the others, especially if the post-Wiener-filter corrections are included or in case an additional scale-independent spectral smoothness prior can be adopted.« less
Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases
Muci-Mendoza, R; Ramella, M; Fuenmayor-Rivera, D
2002-01-01
Aim: To describe a distinctive spectrum of retinal microvascular abnormalities in 12 patients with neurofibromatosis type 1 (NF-1). Methods: This is an observational prospective study of the ocular fundus evaluated by direct ophthalmoscopy with or without fluorescein angiography, to investigate retinal microvascular abnormalities in 32 patients with NF-1 and in 30 control subjects. The evaluation included a complete general and neurological physical examination and in some cases computed tomography, magnetic resonance imaging with gadolinium-DTPA, or both. Results: The occurrence of a distinctive spectrum of retinal microvascular abnormalities is described in 12 patients with NF-1 (37.5%). At the lower end of the spectrum, present in 10 patients, the anomaly consisted of minuscule second or third order tortuous venules, which were called “corkscrew retinal vessels.” These were usually isolated but in a few cases multiple. They flow towards the superior or inferior temporal veins. They had a length of one to two disc diameters. They ended either in a minute tuft or vanished on the retinal surface. The upper end of the spectrum was seen in only two patients. One of them had an exceptionally large venous anastomosis on the nasal retina and the other had an arteriovenous malformation extending over one retinal quadrant. None of the patients in the control group had such retinal microvascular abnormalities. Conclusion: The “corkscrew” retinal vessels described in this report constitute a broad spectrum of microvascular markers in NF-1 patients. PMID:11864883
[Gas Concentration Measurement Based on the Integral Value of Absorptance Spectrum].
Liu, Hui-jun; Tao, Shao-hua; Yang, Bing-chu; Deng, Hong-gui
2015-12-01
The absorptance spectrum of a gas is the basis for the qualitative and quantitative analysis of the gas by the law of the Lambert-Beer. The integral value of the absorptance spectrum is an important parameter to describe the characteristics of the gas absorption. Based on the measured absorptance spectrum of a gas, we collected the required data from the database of HIT-RAN, and chose one of the spectral lines and calculated the integral value of the absorptance spectrum in the frequency domain, and then substituted the integral value into Lambert-Beer's law to obtain the concentration of the detected gas. By calculating the integral value of the absorptance spectrum we can avoid the more complicated calculation of the spectral line function and a series of standard gases for calibration, so the gas concentration measurement will be simpler and faster. We studied the changing trends of the integral values of the absorptance spectrums versus temperature. Since temperature variation would cause the corresponding variation in pressure, we studied the changing trends of the integral values of the absorptance spectrums versus both the pressure not changed with temperature and changed with the temperature variation. Based on the two cases, we found that the integral values of the absorptance spectrums both would firstly increase, then decrease, and finally stabilize with temperature increasing, but the ranges of specific changing trend were different in the two cases. In the experiments, we found that the relative errors of the integrated values of the absorptance spectrum were much higher than 1% and still increased with temperature when we only considered the change of temperature and completely ignored the pressure affected by the temperature variation, and the relative errors of the integrated values of the absorptance spectrum were almost constant at about only 1% when we considered that the pressure were affected by the temperature variation. As the integral value of the absorptance spectrum varied with temperature and the calculating error for the integral value fluctuates with ranges of temperature, in the gas measurement when we usd integral values of the absoptance spectrum, we should select a suitable temperature variation and obtain a more accurate measurement result.
ERIC Educational Resources Information Center
Allison, Carrie; Auyeung, Bonnie; Baron-Cohen, Simon
2012-01-01
Objective: Frontline health professionals need a "red flag" tool to aid their decision making about whether to make a referral for a full diagnostic assessment for an autism spectrum condition (ASC) in children and adults. The aim was to identify 10 items on the Autism Spectrum Quotient (AQ) (Adult, Adolescent, and Child versions) and on…
On the Absolutely Continuous Spectrum of Stark Operators
NASA Astrophysics Data System (ADS)
Perelman, Galina
The stability of the absolutely continuous spectrum of the one-dimensional Stark operator
Age of Diagnosis of Autism Spectrum Disorder in Latino Children: The Case of Venezuelan Children
ERIC Educational Resources Information Center
Montiel-Nava, Cecilia; Chacín, José A.; González-Ávila, Zoila
2017-01-01
Latino children are diagnosed with autism spectrum disorder later in life, usually with more severe symptoms, and lower IQs, compared with non-Latino children. Possible reasons for such disparities could be due to lower levels of parent education, lower socioeconomic status, limited knowledge of parents about autism spectrum disorder, and…
Massive Fermi gas in the expanding universe
NASA Astrophysics Data System (ADS)
Trautner, Andreas
2017-03-01
The behavior of a decoupled ideal Fermi gas in a homogeneously expanding three-dimensional volume is investigated, starting from an equilibrium spectrum. In case the gas is massless and/or completely degenerate, the spectrum of the gas can be described by an effective temperature and/or an effective chemical potential, both of which scale down with the volume expansion. In contrast, the spectrum of a decoupled massive and non-degenerate gas can only be described by an effective temperature if there are strong enough self-interactions such as to maintain an equilibrium distribution. Assuming perpetual equilibration, we study a decoupled gas which is relativistic at decoupling and then is red-shifted until it becomes non-relativistic. We find expressions for the effective temperature and effective chemical potential which allow us to calculate the final spectrum for arbitrary initial conditions. This calculation is enabled by a new expansion of the Fermi-Dirac integral, which is for our purpose superior to the well-known Sommerfeld expansion. We also compute the behavior of the phase space density under expansion and compare it to the case of real temperature and real chemical potential. Using our results for the degenerate case, we also obtain the mean relic velocity of the recently proposed non-thermal cosmic neutrino background.
Massive Fermi gas in the expanding universe
DOE Office of Scientific and Technical Information (OSTI.GOV)
Trautner, Andreas, E-mail: atrautner@uni-bonn.de
The behavior of a decoupled ideal Fermi gas in a homogeneously expanding three-dimensional volume is investigated, starting from an equilibrium spectrum. In case the gas is massless and/or completely degenerate, the spectrum of the gas can be described by an effective temperature and/or an effective chemical potential, both of which scale down with the volume expansion. In contrast, the spectrum of a decoupled massive and non-degenerate gas can only be described by an effective temperature if there are strong enough self-interactions such as to maintain an equilibrium distribution. Assuming perpetual equilibration, we study a decoupled gas which is relativistic atmore » decoupling and then is red-shifted until it becomes non-relativistic. We find expressions for the effective temperature and effective chemical potential which allow us to calculate the final spectrum for arbitrary initial conditions. This calculation is enabled by a new expansion of the Fermi-Dirac integral, which is for our purpose superior to the well-known Sommerfeld expansion. We also compute the behavior of the phase space density under expansion and compare it to the case of real temperature and real chemical potential. Using our results for the degenerate case, we also obtain the mean relic velocity of the recently proposed non-thermal cosmic neutrino background.« less
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurélie; Them, Frédéric TM; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Séverine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, François; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quélin, Chloé; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Geneviève; Cormier-Daire, Valérie; Le Merrer, Martine; Geneviève, David; Touitou, Isabelle
2016-01-01
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype–phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach. PMID:26626311
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurélie; Them, Frédéric Tm; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Séverine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, François; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quélin, Chloé; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Geneviève; Cormier-Daire, Valérie; Le Merrer, Martine; Geneviève, David; Touitou, Isabelle
2016-07-01
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype-phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.
Costa, Nayara Thais de Oliveira; Martinho-Carvalho, Ana Claudia; Cunha, Maria Claudia; Lewis, Doris Ruthi
2012-01-01
This study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.
Adaptive multitaper time-frequency spectrum estimation
NASA Astrophysics Data System (ADS)
Pitton, James W.
1999-11-01
In earlier work, Thomson's adaptive multitaper spectrum estimation method was extended to the nonstationary case. This paper reviews the time-frequency multitaper method and the adaptive procedure, and explores some properties of the eigenvalues and eigenvectors. The variance of the adaptive estimator is used to construct an adaptive smoother, which is used to form a high resolution estimate. An F-test for detecting and removing sinusoidal components in the time-frequency spectrum is also given.
ERIC Educational Resources Information Center
Bennett, Emily; Heaton, Pamela
2012-01-01
Parents of 125 children, adolescents and young adults with autism spectrum disorders completed a newly developed questionnaire aimed at identifying cognitive and behavioural characteristics associated with savant skills in this group. Factors distinguishing skilled individuals were then further investigated in case studies of three individuals…
Students with Autism Spectrum Disorders (ASD): The First-Year Postsecondary Educational Experience
ERIC Educational Resources Information Center
Shook Torres, Elizabeth
2014-01-01
This study utilized a qualitative case study interview methodology to explore the transition to postsecondary education and first-year postsecondary educational experiences of four students with Autism Spectrum Disorders (ASD). This research provided a comprehensive understanding of the first-year postsecondary educational experience of the…
Is Neonatal Jaundice Associated with Autism Spectrum Disorders: A Systematic Review
ERIC Educational Resources Information Center
Amin, Sanjiv B.; Smith, Tristram; Wang, Hongyue
2011-01-01
Using guidelines of the Meta-analysis of Observational Studies in Epidemiology Group, we systematically reviewed the literature on neonatal jaundice (unconjugated hyperbilirubinemia) and Autism Spectrum Disorder (ASD) in term and preterm infants. Thirteen studies were included in a meta-analysis. Most used retrospective matched case-control…
Motion of charged particles normal to an irregular magnetic field. [astrophysical plasmas
NASA Technical Reports Server (NTRS)
Jokipii, J. R.
1975-01-01
The motion is analyzed of charged particles in a fluctuating magnetic field which varies only in directions normal to its mean direction, such as that which would be generated by an ensemble of magnetosonic waves propagating normal to an ambient magnetic field. The appropriate generalization of gradient-drift motion is derived in terms of the power spectrum of the magnetic fluctuations, and an effective spatial diffusion coefficient is obtained. Several special cases are considered, including a Gaussian power spectrum, a power-law spectrum with a cutoff, and a general power-law spectrum. A possible magnitude is calculated for the spatial diffusion coefficient of the solar wind.
ERIC Educational Resources Information Center
Sullivan, Jillian C.; Miller, Lucy J.; Nielsen, Darcy M.; Schoen, Sarah A.
2014-01-01
Migraine headaches are associated with sensory hyperreactivity and anxiety in the general population, but it is unknown whether this is also the case in autism spectrum disorders. This pilot study asked parents of 81 children (aged 7-17 years) with autism spectrum disorders to report their child's migraine occurrence, sensory hyperreactivity…
Nelson, Barnaby; Thompson, Andrew; Yung, Alison R
2012-11-01
Phenomenological research indicates that disturbance of the basic sense of self may be a core phenotypic marker of schizophrenia spectrum disorders. Basic self-disturbance refers to a disruption of the sense of ownership of experience and agency of action and is associated with a variety of anomalous subjective experiences. In this study, we investigated the presence of basic self-disturbance in an "ultra high risk" (UHR) for psychosis sample compared with a healthy control sample and whether it predicted transition to psychotic disorder. Forty-nine UHR patients and 52 matched healthy control participants were recruited to the study. Participants were assessed for basic self-disturbance using the Examination of Anomalous Self-Experience (EASE) instrument. UHR participants were followed for a mean of 569 days. Levels of self-disturbance were significantly higher in the UHR sample compared with the healthy control sample (P < .001). Cox regression indicated that total EASE score significantly predicted time to transition (P < .05) when other significant predictors were controlled for. Exploratory analyses indicated that basic self-disturbance scores were higher in schizophrenia spectrum cases, irrespective of transition to psychosis, than nonschizophrenia spectrum cases. The results indicate that identifying basic self-disturbance in the UHR population may provide a means of further "closing in" on individuals truly at high risk of psychotic disorder, particularly of schizophrenia spectrum disorders. This may be of practical value by reducing inclusion of "false positive" cases in UHR samples and of theoretical value by shedding light on core phenotypic features of schizophrenia spectrum pathology.
NASA Technical Reports Server (NTRS)
Gu, Ye-Ming; Li, Chung-Sheng
1986-01-01
On the basis of the summing-up and analysis of the observations and theories about the impulsive microwave and hard X-ray bursts, the correlations between these two kinds of emissions were investigated. It is shown that it is only possible to explain the optically-thin microwave spectrum and its relations with the hard X-ray spectrum by means of the nonthermal source model. A simple nonthermal trap model in the mildly-relativistic case can consistently explain the main characteristics of the spectrum and the relative time delays.
The Molecular Mechanisms of Thalidomide Teratogenicity and Implications for Modern Medicine.
Knobloch, J; Jungck, D; Koch, A
2017-01-01
Thalidomide is a teratogen that affects many organs but primarily induces limb truncations like phocomelia. Rodents are thalidomide resistant. In the 1950s, this has led to misinterpretations of animal tests and to the fatal assumption that the drug was safe for pregnant women to use against morning sickness. The result was one of the biggest scandals in medical history: 10.000 and more infants with birth defects in Europe. Nonetheless, thalidomide still has its place in modern medicine as it has strong therapeutic potential: it has been approved by the FDA for multiple myeloma and erythema nodosum leprosum, and its anti-inflammatory, immunomodulatory and antiangiogenic activities are considered in many other refractory diseases. The aim is to develop derivatives that are not teratogenic but maintain the therapeutic potential. This requires detailed knowledge about the underlying molecular mechanisms. Much progress has been made in deciphering the teratogenic mechanisms in the last decade. Here, we summarize these mechanisms, explain thalidomide resistance of rodents, and discuss possible mechanisms that could explain why the drug primarily targets the developing limb in the embryo. We also summarize the most important therapeutic mechanisms. Finally, we discuss which therapeutic and teratogenic mechanisms do and do not overlap, and if there is a chance for the development of non-teratogenic thalidomide derivatives with therapeutic potential. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.
NEUROBILOGY OF ASPERGER'S SYNDROME : A CASE STUDY AND OVERVIEW
Duggal, Harpreet S.; Dutta, Siddhartha; Sinha, Vinod K.; Basu, Soumya; Pandey, Smita; Nizamie, Haque S.; Nizamie, Alka
2001-01-01
Asperger's syndrome is an autistic spectrum disorder, which has engendered lesser attention in comparison to autism. Recent literature has focused on the involvement of cortical areas of the brain in this syndrome. We report a case of Asperger′s syndrome in which an extensive work-up, including neuropsychological, neurophysiological and neuroimaging procedures, were undertaken. The findings of the various investigative procedures are discussed and literature supporting the neurobiological basis of Asperger's syndrome is highlighted. Finally, we briefly touch upon the ‘Theory of Mind’ construct in autistic spectrum disorders. PMID:21407867
Diffuse Reflectance Spectroscopy of Hidden Objects. Part II: Recovery of a Target Spectrum.
Pomerantsev, Alexey L; Rodionova, Oxana Ye; Skvortsov, Alexej N
2017-08-01
In this study, we consider the reconstruction of a diffuse reflectance near-infrared spectrum of an object (target spectrum) in case the object is covered by an interfering absorbing and scattering layer. Recovery is performed using a new empirical method, which was developed in our previous study. We focus on a system, which consists of several layers of polyethylene (PE) film and underlayer objects with different spectral features. The spectral contribution of the interfering layer is modeled by a three-component two-parameter multivariate curve resolution (MCR) model, which was built and calibrated using spectrally flat objects. We show that this model is applicable to real objects with non-uniform spectra. Ultimately, the target spectrum can be reconstructed from a single spectrum of the covered target. With calculation methods, we are able to recover quite accurately the spectrum of a target even when the object is covered by 0.7 mm of PE.
Effects of a Decoding Program on a Child with Autism Spectrum Disorder
ERIC Educational Resources Information Center
Infantino, Josephine; Hempenstall, Kerry
2006-01-01
This case study examined the effects of a parent-presented Direct Instruction decoding program on the reading and language skills of a child with high functioning Autism Spectrum Disorder. Following the 23 hour intervention, reading comprehension, listening comprehension and fluency skills improved to grade level, whilst statistically significant…
Maury, Augusto; Revilla, Reynier I
2015-08-01
Cosmic rays (CRs) occasionally affect charge-coupled device (CCD) detectors, introducing large spikes with very narrow bandwidth in the spectrum. These CR features can distort the chemical information expressed by the spectra. Consequently, we propose here an algorithm to identify and remove significant spikes in a single Raman spectrum. An autocorrelation analysis is first carried out to accentuate the CRs feature as outliers. Subsequently, with an adequate selection of the threshold, a discrete wavelet transform filter is used to identify CR spikes. Identified data points are then replaced by interpolated values using the weighted-average interpolation technique. This approach only modifies the data in a close vicinity of the CRs. Additionally, robust wavelet transform parameters are proposed (a desirable property for automation) after optimizing them with the application of the method in a great number of spectra. However, this algorithm, as well as all the single-spectrum analysis procedures, is limited to the cases in which CRs have much narrower bandwidth than the Raman bands. This might not be the case when low-resolution Raman instruments are used.
Is Emotion Recognition Impaired in Individuals with Autism Spectrum Disorders?
ERIC Educational Resources Information Center
Tracy, Jessica L.; Robins, Richard W.; Schriber, Roberta A.; Solomon, Marjorie
2011-01-01
Researchers have argued that individuals with autism spectrum disorders (ASDs) use an effortful "systematizing" process to recognize emotion expressions, whereas typically developing (TD) individuals use a more holistic process. If this is the case, individuals with ASDs should show slower and less efficient emotion recognition, particularly for…
Association of Autism Spectrum Disorders and Inflammatory Bowel Disease
ERIC Educational Resources Information Center
Lee, Maunoo; Krishnamurthy, Jayasree; Susi, Apryl; Sullivan, Carolyn; Gorman, Gregory H.; Hisle-Gorman, Elizabeth; Erdie-Lalena, Christine R.; Nylund, Cade M.
2018-01-01
Autism spectrum disorders (ASD) and inflammatory bowel disease (IBD) both have multifactorial pathogenesis with an increasing number of studies demonstrating gut-brain associations. We aim to examine the association between ASD and IBD using strict classification criteria for IBD. We conducted a retrospective case-cohort study using records from…
Deafness and Autistic Spectrum Disorders
ERIC Educational Resources Information Center
Vernon, McCay; Rhodes, Anthony
2009-01-01
An orientation to autistic spectrum disorders (ASD), also known as autism, is provided, and the specific syndrome of autism and deafness is addressed. The two conditions have in common a major problem: communication. Case histories are provided, the development of treatment for autism is discussed, and the separate disorders that make up ASD are…
Sun, Wen; Yu, Lin; Liu, Shiliang; Chen, Yanhong; Chen, Juanjuan; Wen, Shi Wu; Chen, Dunjin
2018-03-01
Online-to-offline is a new model for emergent medical service with the ability to connect care providers with patients on instant basis. This study aims to evaluate maternal and neonatal outcomes in patients with placenta accreta spectrum managed by an online-to-offline care model. Starting from January 1, 2015, management of patients with placenta accreta spectrum was changed from standard care model into an online-to-offline care model through "Wechat" in Guangzhou Medical Centre for Critical Obstetrical Care. This study compared maternal and neonatal outcomes in patients affected by placenta accreta spectrum between 2015 (online-to-offline model) and 2014 (standard care model). A total of 209 cases of placenta accrete spectrum were treated in our center in 2015 and 218 such cases were treated in 2014. Patients treated in 2015 had lower rate of hysterectomy (14.83% versus 20.64%) and shorter hospital stay (7 days versus 8 days). The average interval from admission to emergency cesarean section for critically ill patients was 38.5 min in 2015 versus 50.7 min in 2014. Patients affected by placenta accreta spectrum managed by online-to-offline care model have reduced risk of hysterectomy, shorter hospital stay, and shorter response time from admission to emergency cesarean section. Copyright © 2018 Elsevier B.V. All rights reserved.
Video Modeling for Children and Adolescents with Autism Spectrum Disorder: A Meta-Analysis
ERIC Educational Resources Information Center
Thompson, Teresa Lynn
2014-01-01
The objective of this research was to conduct a meta-analysis to examine existing research studies on video modeling as an effective teaching tool for children and adolescents diagnosed with Autism Spectrum Disorder (ASD). Study eligibility criteria included (a) single case research design using multiple baselines, alternating treatment designs,…
So You Think the Crab is Described by a Power-Law Spectrum
NASA Technical Reports Server (NTRS)
Weisskopf, Martin C.
2008-01-01
X-ray observations of the Crab Nebula and its pulsar have played a prominent role in the history of X-ray astronomy. Discoveries range from the detection of the X-ray Nebula and pulsar and the measurement of the Nebula-averaged X-ray polarization, to the observation of complex X-ray morphology, including jets emanating from the pulsar and the ring defining the shocked pulsar wind. The synchrotron origin of much of the radiation has been deduced by detailed studies across the electromagnetic spectrum, yet has fooled many X-ray astronomers into believing that the integrated spectrum from this system ought to be a power law. In many cases, this assumption has led observers to adjust the experiment response function(s) to guarantee such a result. We shall discuss why one should not observe a power-law spectrum, and present simulations using the latest available response matrices showing what should have been observed for a number of representative cases including the ROSAT IPC, XMM-Newton, and RXTE. We then discuss the implications, if any, for current calibrations.
On the intrinsic spectrum of PKS 2155-304 from H.E.S.S. 2003 data
DOE Office of Scientific and Technical Information (OSTI.GOV)
Costamante, L.; Benbow, W.; Horns, D.
2005-02-21
In 2003, PKS 2155-304 has been significantly detected by H.E.S.S. at Very High Energies (VHE), with an average spectrum of {gamma} = 3.3. Due to absorption by the Extragalactic Background Light (EBL), the intrinsic spectrum is heavily modified both in shape and intensity. To correct for this effect, and locate the Inverse Compton (IC) peak of the Spectral Energy Distribution (SED), we used three EBL models (representatives of three different flux levels for the stellar peak component). The resulting TeV spectrum has a peak around 1 TeV for stellar peak fluxes above the Primack (2001) calculation, while the spectrum ismore » steeper than {gamma} = 2 (thus locating the IC peak < 200 GeV) for fluxes below. With bulk Lorentz factors {delta} = 20 - 30 (typically used for this object), in the first case the IC peak is in the Klein-Nishina transition region, while in the other case it is in the Thompson regime, and in agreement with the commonly fitted source parameters (e.g. [17]). The constraint on {delta} given by transparency to 2 TeV photons is {delta} > 19 (for historical SED fluxes and 2 hours variability timescale)« less
On the intrinsic spectrum of PKS 2155-304 from H.E.S.S. 2003 data
NASA Astrophysics Data System (ADS)
Costamante, L.; Benbow, W.; Horns, D.; Reimer, A.; H.E.S.S. Collaboration
2005-02-01
In 2003, PKS 2155-304 has been significantly detected by H.E.S.S. at Very High Energies (VHE), with an average spectrum of Γ = 3.3. Due to absorption by the Extragalactic Background Light (EBL), the intrinsic spectrum is heavily modified both in shape and intensity. To correct for this effect, and locate the Inverse Compton (IC) peak of the Spectral Energy Distribution (SED), we used three EBL models (representatives of three different flux levels for the stellar peak component). The resulting TeV spectrum has a peak around 1 TeV for stellar peak fluxes above the Primack (2001) calculation, while the spectrum is steeper than Γ = 2 (thus locating the IC peak < 200 GeV) for fluxes below. With bulk Lorentz factors δ = 20 - 30 (typically used for this object), in the first case the IC peak is in the Klein-Nishina transition region, while in the other case it is in the Thompson regime, and in agreement with the commonly fitted source parameters (e.g. [17]). The constraint on δ given by transparency to 2 TeV photons is δ > 19 (for historical SED fluxes and 2 hours variability timescale).
Dersch, R; Sommer, H; Rauer, S; Meerpohl, J J
2016-01-01
Controversy exists about residual symptoms after pharmacological treatment of Lyme neuroborreliosis. Reports of disabling long-term sequels lead to concerns in patients and health care providers. We systematically reviewed the available evidence from studies reporting treatment of Lyme neuroborreliosis to assess the prevalence and spectrum of residual symptoms after treatment. A literature search was performed in three databases and three clinical trial registers to find eligible studies reporting on residual symptoms in patients after pharmacological treatment of LNB. Diagnosis must have been performed according to consensus-derived case definitions. No restrictions regarding study design or language were set. Symptom prevalence was pooled using a random-effects model. Forty-four eligible clinical trials and studies were found: 8 RCTs, 17 cohort studies, 2 case-control studies, and 17 case series. The follow-up period in the eligible studies ranged from 7 days to 20 years. The weighted mean proportion of residual symptoms was 28 % (95 % CI 23-34 %, n = 34 studies) for the latest reported time point. Prevalence of residual symptoms was statistically significantly higher in studies using the "possible" case definition (p = 0.0048). Cranial neuropathy, pain, paresis, cognitive disturbances, headache, and fatigue were statistically significantly lower in studies using the "probable/definite" case definition. LNB patients may experience residual symptoms after treatment with a prevalence of approximately 28 %. The prevalence and spectrum of residual symptoms differ according to the applied case definition. Symptoms like fatigue are not reported in studies using the "probable/definite" case definition. As the "possible" case definition is more unspecific, patients with other conditions may be included. Reports of debilitating fatigue and cognitive impairment after LNB, a "post-Lyme syndrome", could therefore be an artifact of unspecific case definitions in single studies.
An Improved Radiative Transfer Model for Climate Calculations
NASA Technical Reports Server (NTRS)
Bergstrom, Robert W.; Mlawer, Eli J.; Sokolik, Irina N.; Clough, Shepard A.; Toon, Owen B.
1998-01-01
This paper presents a radiative transfer model that has been developed to accurately predict the atmospheric radiant flux in both the infrared and the solar spectrum with a minimum of computational effort. The model is designed to be included in numerical climate models To assess the accuracy of the model, the results are compared to other more detailed models for several standard cases in the solar and thermal spectrum. As the thermal spectrum has been treated in other publications, we focus here on the solar part of the spectrum. We perform several example calculations focussing on the question of absorption of solar radiation by gases and aerosols.
Diagnostic profile and suicide risk in schizophrenia spectrum disorder.
Reutfors, Johan; Bahmanyar, Shahram; Jönsson, Erik G; Ekbom, Anders; Nordström, Peter; Brandt, Lena; Ösby, Urban
2010-11-01
Earlier studies of patients with schizophrenia have investigated suicide risk in relation to specific psychiatric symptoms, but it remains to be better understood how suicide risk relates to the diagnostic profile in these patients. We identified all patients with a first clinical ICD-diagnosis of schizophrenia, schizophreniform or schizoaffective disorder in Stockholm County between 1984 and 2000. Patients who died by suicide within five years from diagnosis were defined as cases (n=84) and were individually matched with a similar number of living controls from the same population. Sociodemographic and clinical variables were retrieved from hospital records through a blind process. DSM-IV lifetime diagnoses for cases and controls were derived using the OPCRIT algorithm. A schizophrenia spectrum diagnosis (i.e. schizophrenia, schizophreniform or schizoaffective disorder) was assigned by OPCRIT to 50% of the suicide cases and 62% of the controls. Criteria for schizophrenia were met by 41% of the cases and 51% of the controls; for schizoaffective disorder by 8% of the cases and 10% of the controls; for other psychosis by 23% of the cases and 25% of the controls; and for mood disorder by 26% of the cases and 12% of the controls. Using the schizophrenia diagnosis as a reference, suicide risk was significantly higher in patients meeting criteria for a mood disorder diagnosis with an adjusted odds ratio of 3.3 (95% CI 1.2-9.0). In patients with a clinical schizophrenia spectrum diagnosis, a DSM-IV mood disorder diagnosis increases the suicide risk more than three-fold. Copyright © 2010 Elsevier B.V. All rights reserved.
A Modified Dialogic Reading Intervention for Preschool Children with Autism Spectrum Disorder
ERIC Educational Resources Information Center
Fleury, Veronica P.; Schwartz, Ilene S.
2017-01-01
We examined the effect of a modified dialogic reading intervention on levels of verbal participation and vocabulary growth in nine preschool children with autism spectrum disorder (ASD) using single-case design methodology. Baseline book reading resulted in consistently low levels of verbal participation followed by an immediate increase in verbal…
ERIC Educational Resources Information Center
Ashburner, Jill K.; Bobir, Natasha I.; van Dooren, Kate
2018-01-01
After leaving school, young people with autism spectrum disorder often struggle with social, educational and employment participation. A post-school transition programme underpinned by individualised case management, where mentees are guided to complete self-selected projects by mentors with multimedia skills, was evaluated using a qualitative…
Detecting Autism Spectrum Disorders in the General Practitioner's Practice
ERIC Educational Resources Information Center
van Tongerloo, Michelle A. M. M.; Bor, Hans H. J.; Lagro-Janssen, Antoine L. M.
2012-01-01
It takes considerable time before Autism Spectrum Disorders are diagnosed. Validated diagnostic instruments are available, but not applicable to primary healthcare. By means of a case-control study we investigated whether there were differences in presented complaints and referral patterns between children with ASD (n = 49) and a control group of…
Liau, Jau-Yu; Lee, Jen-Chieh; Wu, Chen-Tu; Kuo, Kuan-Ting; Huang, Hsuan-Ying; Liang, Cher-Wei
2013-04-01
Dedifferentiated liposarcoma (DDLPS) is traditionally defined as a non-lipogenic high-grade sarcoma arising from a well-differentiated liposarcoma that confers metastatic potential. Recently, DDLPSs with lipoblastic differentiation, i.e. morphologically lipogenic DDLPSs, were reported. Because of the lipoblastic differentiation, these tumours caused confusion, and were reported under different names. However, cytogenetic and molecular studies have revealed their DDLPS nature. So far, the cases reported have been high-grade pleomorphic liposarcoma-like tumours. In this study we have collected another series that contains low-grade tumours, and expand the histological spectrum. Eighteen cases of DDLPS with lipoblastic differentiation from various anatomical locations were analysed by routine histology, immunohistochemistry, and MDM2 fluorescence in-situ hybridization. Two main histological patterns were seen: one featured a spindle cell sarcoma containing lipoblasts with variable nuclear pleomorphism, and the other a pleomorphic liposarcoma-like tumour including the epithelioid variant. Two cases showed low nuclear grade and lipogenic activity in the metastatic foci. CDK4, MDM2 and p16(INK) (4a) overexpression was seen in all except one case. MDM2 amplification was found in all 16 cases tested. We have expanded the spectrum of this variant of DDLPS to include low-grade tumours, in which a careful search for increased mitotic activity is essential. Like conventional DDLPS, these tumours are capable of metastasis. © 2012 Blackwell Publishing Ltd.
Association between thimerosal-containing vaccine and autism.
Hviid, Anders; Stellfeld, Michael; Wohlfahrt, Jan; Melbye, Mads
2003-10-01
Mercuric compounds are nephrotoxic and neurotoxic at high doses. Thimerosal, a preservative used widely in vaccine formulations, contains ethylmercury. Thus it has been suggested that childhood vaccination with thimerosal-containing vaccine could be causally related to neurodevelopmental disorders such as autism. To determine whether vaccination with a thimerosal-containing vaccine is associated with development of autism. Population-based cohort study of all children born in Denmark from January 1, 1990, until December 31, 1996 (N = 467 450) comparing children vaccinated with a thimerosal-containing vaccine with children vaccinated with a thimerosal-free formulation of the same vaccine. Rate ratio (RR) for autism and other autistic-spectrum disorders, including trend with dose of ethylmercury. During 2 986 654 person-years, we identified 440 autism cases and 787 cases of other autistic-spectrum disorders. The risk of autism and other autistic-spectrum disorders did not differ significantly between children vaccinated with thimerosal-containing vaccine and children vaccinated with thimerosal-free vaccine (RR, 0.85 [95% confidence interval [CI], 0.60-1.20] for autism; RR, 1.12 [95% CI, 0.88-1.43] for other autistic-spectrum disorders). Furthermore, we found no evidence of a dose-response association (increase in RR per 25 microg of ethylmercury, 0.98 [95% CI, 0.90-1.06] for autism and 1.03 [95% CI, 0.98-1.09] for other autistic-spectrum disorders). The results do not support a causal relationship between childhood vaccination with thimerosal-containing vaccines and development of autistic-spectrum disorders.
Improved Bonner sphere neutron spectrometry measurements for the nuclear industry
NASA Astrophysics Data System (ADS)
Roberts, N. J.; Thomas, D. J.; Visser, T. P. P.
2017-11-01
A novel, two-stage approach has been developed for producing the a priori spectrum for Bonner sphere unfolding in a case where neutrons are produced by spontaneous fission and (α,n) reactions, e.g. in UF6. The code SOURCES 4C is first used to obtain the energy spectrum of the neutrons inside the material, which is then fed into a MCNP model of the entire geometry to derive the neutron spectrum at the location of the Bonner sphere. Using this as the a priori spectrum produces a much more detailed unfolded Bonner sphere spectrum retaining fine structure from the calculation that would not be present if a simple estimated spectrum had been used as the a priori spectrum. This is illustrated using a Bonner sphere measurement of the neutron energy spectrum produced by a 48Y cylinder of UF6. From the unfolded spectrum an estimate has been made of the neutron ambient dose equivalent, i.e. the quantity which a neutron survey instrument should measure. The difference in the ambient dose equivalent of the unfolded spectrum is over 10% when using the novel approach instead of using a simpler estimate consisting of a single high energy peak, 1/E continuum, and thermal peak.
Neuromyelitis optica spectrum disorders in Algeria: A preliminary study in the region of Tizi Ouzou.
Daoudi, Smail; Bouzar, Melissa
2016-03-01
Neuromyelitis optica (NMO) is a disabling inflammatory condition that targets astrocytes in the optic nerves and spinal cord. Recent advances led to the individualization of a set of conditions now referred as NMO spectrum disorder (NMOSD). To describe the prevalence and characteristics of NMO SD in north Algeria. The present study is a retrospective and descriptive work which took place in Nedir Mohamed teaching hospital, Tizi-Ouzou, Algeria. 938 Medical files of patients with CNS inflammatory demyelinating diseases were reviewed then patients with optic neuritis and/or myelitis were preselected. Patients who met the 2015 neuromyelitis optica spectrum disorders criteria were selected and analyzed 08 Patients (3.4%) met the 2015 criteria for neuromyelitis optica spectrum disorders, 3/8 (37.5%) were positive to AQ4-IgG and 5/8 (62.5%) were negative. Mean age of onset was 29 years, female to male ratio was 3:1, cerebral MRI was normal in 75% of cases and longitudinally extensive transverse myelitis was present in 75% of cases. 37/232 Patients (15.9%) were considered at high risk of neuromyelitis optica spectrum disorders The present study suggests that the spectrum of NMO disorders is a rare entity among patients with optic nerve and spinal cord demyelinating lesions in north Algeria. However, the lack of accurate AQ4-IgG test certainly underestimates its real prevalence. Copyright © 2015 Elsevier B.V. All rights reserved.
Teaching Students with Autistic Spectrum Disorders in HE
ERIC Educational Resources Information Center
Taylor, M. J.
2005-01-01
Purpose--The purpose of the research reported in this paper was to examine the type of adjustments to delivery appropriate for students with an autistic spectrum disorder in a UK higher education setting. Design/Methodology/Approach--A case study in a UK university was conducted over a two-year period. Findings--A variety of adjustments may be…
ERIC Educational Resources Information Center
Curiel, Emily S. L.; Sainato, Diane M.; Goldstein, Howard
2016-01-01
Matrix training is a systematic teaching approach that can facilitate generalized language. Specific responses are taught that result in the emergence of untrained responses. This type of training facilitates the use of generalized language in children with autism spectrum disorder (ASD). This study used a matrix training procedure with a toddler…
Embracing a Full Spectrum Definition of Art Therapy
ERIC Educational Resources Information Center
Spooner, Heather
2016-01-01
In this viewpoint the author makes a case for developing a clear and concise definition of art therapy that can easily be adopted by art therapists working across a spectrum of theoretical frameworks. The reader is asked to widen the lens through which art therapy is defined by considering its influence on society, the mind, health, and behavior.…
Priorities for autism spectrum disorder risk communication and ethics.
Yudell, Michael; Tabor, Holly K; Dawson, Geraldine; Rossi, John; Newschaffer, Craig
2013-11-01
Autism spectrum disorders are an issue of increasing public health significance. The incidence of autism spectrum disorders has been increasing in recent years, and they are associated with significant personal and financial impacts for affected persons and their families. In recent years, a large number of scientific studies have been undertaken, which investigate genetic and environmental risk factors for autism, with more studies underway. At present, much remains unknown regarding autism spectrum disorder risk factors, but the emerging picture of causation is in many cases complex, with multiple genes and gene-environment interactions being at play. The complexity and uncertainty surrounding autism spectrum disorder risk factors raise a number of questions regarding the ethical considerations that should be taken into account when undertaking autism spectrum disorder risk communication. At present, however, little has been written regarding autism spectrum disorder risk communication and ethics. This article summarizes the findings of a recent conference investigating ethical considerations and policy recommendations in autism spectrum disorder risk communication, which to the authors' knowledge is the first of its kind. Here, the authors discuss a number of issues, including uncertainty; comprehension; inadvertent harm; justice; and the appropriate roles of clinicians, scientists, and the media in autism spectrum disorder risk communication.
Gender identity disorder and autism spectrum disorder in a 23-year-old female.
Lemaire, Mathieu; Thomazeau, Barbara; Bonnet-Brilhault, Frédérique
2014-02-01
We describe the case of a 23-year-old woman with Gender Identity Disorder (GID) asking for a cross-sex hormonal treatment with sex reassignment surgery and who was recently diagnosed with Autism Spectrum Disorder (ASD). Gender identity clinics are now reporting an overrepresentation of individuals with ASD among GID patients. The prevalence of ASD is 10-fold higher among GID patients than in general population. However, few case reports or studies have explored the co-occurrence of ASD and GID. This co-occurrence is relevant for diagnostic and clinical management and also raises important theoretical issues.
Portrayal of Adolescents with Autism Spectrum Disorders in Young Adult Literature
ERIC Educational Resources Information Center
Black, Rhonda S.; Tsumoto, Courtney A.
2018-01-01
Characters with autism spectrum disorders (ASD) have become increasingly popular in young adult literature. Using a case-study format, this article describes the communication, sensory, and social characteristics of eight protagonists in award-winning young adult novels. All told in the first person, these novels provide insight for young readers…
ERIC Educational Resources Information Center
Grainger, Catherine; Williams, David M.; Lind, Sophie E.
2016-01-01
This study explored whether adults and adolescents with autism spectrum disorder (ASD) demonstrate difficulties making metacognitive judgments, specifically judgments of learning. Across two experiments, the study examined whether individuals with ASD could accurately judge whether they had learnt a piece of information (in this case word pairs).…
Urbanicity and Autism Spectrum Disorders
ERIC Educational Resources Information Center
Lauritsen, Marlene B.; Astrup, Aske; Pedersen, Carsten Bøcker; Obel, Carsten; Schendel, Diana E.; Schieve, Laura; Yeargin-Allsopp, Marshalyn; Parner, Erik T.
2014-01-01
The etiology of autism spectrum disorders (ASD) is for the majority of cases unknown and more studies of risk factors are needed. Geographic variation in ASD occurrence has been observed, and urban residence has been suggested to serve as a proxy for etiologic and identification factors in ASD. We examined the association between urbanicity level…
Motor Skill Assessment in Autism Spectrum Disorder: A Case Study
ERIC Educational Resources Information Center
Liu, Ting; Breslin, Casey M.; ElGarhy, Sayed
2017-01-01
Without proper motor assessment, children with autism spectrum disorder may be placed in educational settings that are inappropriate for their motor abilities. However, many practitioners find it challenging to choose which assessment to use to assess these children, especially with the number of instruments available. The purpose of this study…
Moebius Sequence and Autism Spectrum Disorders--Less Frequently Associated than Formerly Thought
ERIC Educational Resources Information Center
Briegel, Wolfgang; Schimek, Martina; Kamp-Becker, Inge
2010-01-01
Moebius sequence is a rare congenital disorder usually defined as a combination of facial weakness with impairment of ocular abduction. It is questionable, whether there is a strong association of the sequence with autism spectrum disorders (ASDs) as suggested in some earlier case reports and studies. Twenty-two participants with Moebius sequence…
A Study into the Effects of Light on Children of Elementary School-Age--A Case of Daylight Robbery.
ERIC Educational Resources Information Center
Hathaway, Warren E.; And Others
This report describes a 2-year study of the effects of various lighting systems on elementary school students' dental health, attendance, growth and development, vision, and academic achievement. The four light types used were: (1) full spectrum fluorescent; (2) full spectrum fluorescent with ultraviolet light supplements; (3) cool white…
ERIC Educational Resources Information Center
Ozuna, Jennifer; Mavridis, Alexis; Hott, Brittany L.
2015-01-01
Social interaction is a core deficit in individuals with autism spectrum disorder (ASD). Therefore, parents and teachers need effective interventions to support students with ASD. This synthesis provides a quantitative analysis of single-subject studies that examine interventions to support social interactions in children with ASD. Results suggest…
Autism Spectrum Disorders in Gender Dysphoric Children and Adolescents
ERIC Educational Resources Information Center
de Vries, Annelou L. C.; Noens, Ilse L. J.; Cohen-Kettenis, Peggy T.; van Berckelaer-Onnes, Ina A.; Doreleijers, Theo A.
2010-01-01
Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity clinic received a standardized assessment during which…
Chemodectomas: review and report of nine cases.
Poster, D S; Schapiro, H; Woronoff, R
1979-01-01
We have reviewed the broad spectrum of disease caused by chemodectomas. This spectrum extends from the benign to the aggressively malignant with many graduations in-between. Our analyses included cases from the literature and nine new cases seen over the past twenty-five years. Surgery as the primary and most definitive form of therapy, is recommended if feasible, with total excision as the goal, in both benign and malignant histologies. An excellent outcome is to be expected in benign cases. At present, no predictor exists to foretell the behavior of malignant lesions, which can range from the aggressive to the slowly progressive. Both radiotherapy and chemotherapy have been tried in malignant cases. No consistent good result has occurred from the use of either. The future will hopefully bring us more effective therapy.
Devi, P Lekshmi; Cicy, P J; Thambi, Renu; Poothiode, Usha
2015-01-01
Amniotic band sequence (ABS) includes a wide spectrum of abnormalities resulting from entrapment of various fetal parts from a disrupted amnion, ranging from a mere constriction ring affecting a finger to a fatal form called limb body wall complex (LBWC). Reported cases of ABS with LBWC are very few. The spectrum of anomalies depends on which part gets entrapped and at what point of gestation. Hence, the clinical presentation can be extremely variable. Early detection of such cases using sonology is really challenging due to the small size of the fibrotic bands. Here, we present a case of amniotic band syndrome with LBWC in a fetus at 24 weeks of gestation, which was referred for an autopsy. The fetus also showed scoliosis, gastroschisis, lumbosacral meningocele, congenital talipes equinovarus, and cleft palate, thus having features of placenta cranial and placenta abdominal phenotype which is very rare.
Ruskin, David N; Fortin, Jessica A; Bisnauth, Subrina N; Masino, Susan A
2017-01-01
The core symptoms of autism spectrum disorder are poorly treated with current medications. Symptoms of autism spectrum disorder are frequently comorbid with a diagnosis of epilepsy and vice versa. Medically-supervised ketogenic diets are remarkably effective nonpharmacological treatments for epilepsy, even in drug-refractory cases. There is accumulating evidence that supports the efficacy of ketogenic diets in treating the core symptoms of autism spectrum disorders in animal models as well as limited reports of benefits in patients. This study tests the behavioral effects of ketogenic diet feeding in the EL mouse, a model with behavioral characteristics of autism spectrum disorder and comorbid epilepsy. Male and female EL mice were fed control diet or one of two ketogenic diet formulas ad libitum starting at 5weeks of age. Beginning at 8weeks of age, diet protocols continued and performance of each group on tests of sociability and repetitive behavior was assessed. A ketogenic diet improved behavioral characteristics of autism spectrum disorder in a sex- and test-specific manner; ketogenic diet never worsened relevant behaviors. Ketogenic diet feeding improved multiple measures of sociability and reduced repetitive behavior in female mice, with limited effects in males. Additional experiments in female mice showed that a less strict, more clinically-relevant diet formula was equally effective in improving sociability and reducing repetitive behavior. Taken together these results add to the growing number of studies suggesting that ketogenic and related diets may provide significant relief from the core symptoms of autism spectrum disorder, and suggest that in some cases there may be increased efficacy in females. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.
The spectrum of psychosis in multiple sclerosis: a clinical case series
Gilberthorpe, Thomas G; O’Connell, Kara E; Carolan, Alison; Silber, Eli; Brex, Peter A; Sibtain, Naomi A; David, Anthony S
2017-01-01
Psychosis in the context of multiple sclerosis (MS) has previously been reported as a rare occurrence. However, recent epidemiological studies have found prevalence rates of psychosis in MS that are two to three times higher than those in the general population. Untreated psychosis in patients with MS can adversely impact on adherence to MS medication, levels of disability, and quality of life. This retrospective case series describes the spectrum of psychotic disorders occurring in association with MS using demographic, clinical, and neuroimaging data. In the discussion, we highlight the particular diagnostic and treatment challenges that such disorders can pose for clinicians and through our case vignettes provide examples of potential interventions for this complex patient population. PMID:28203081
Kumar, Ankur; Juneja, Monica; Mishra, Devendra
2016-06-01
This study determined the prevalence of autism spectrum disorders in 201 siblings of children with autism spectrum disorders. Siblings were screened using Modified Checklist for Autism in Toddlers and Social Responsiveness Scale, parent version. Screen-positive siblings were assessed using Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) criteria. The risk of autism spectrum disorder in siblings was correlated with various familial and disease characteristics of the index case. Prevalence of autism spectrum disorder in siblings was 4.97%. There was a significant effect of the presence of aggressive behavior, externalizing problems and total problems in the proband, assessed using Childhood Behavior Checklist, and the young age of the father at conception on sibling risk of autism spectrum disorder. Results of our study are in line with previous studies reporting similar prevalence but have also brought up the association with behavioral problems as a possible risk factor. Siblings of children with autism spectrum disorder should be routinely screened, and genetic counseling for this increased risk should be explained to the family. © The Author(s) 2016.
VEB-1 Extended-Spectrum β-lactamase–producing Acinetobacter baumannii, France1
Coignard, Bruno; Carbonne, Anne; Blanckaert, Karine; Bajolet, Odile; Bernet, Claude; Verdeil, Xavier; Astagneau, Pascal; Desenclos, Jean-Claude; Nordmann, Patrice
2006-01-01
VEB-1 extended-spectrum β-lactamase–producing Acinetobacter baumannii was responsible for an outbreak in hospitals in France. A national alert was triggered in September 2003 when 4 hospitals reported clusters of A. baumannii infection with similar susceptibility profiles. Case definitions and laboratory guidelines were disseminated, and prospective surveillance was implemented; strains were sent to a single laboratory for characterization and typing. From April 2003 through June 2004, 53 hospitals reported 290 cases of A. baumannii infection or colonization; 275 isolates were blaVEB-1-positive and clonally related. Cases were first reported in 5 districts of northern France, then in 10 other districts in 4 regions. Within a region, interhospital spread was associated with patient transfer. In northern France, investigation and control measures led to a reduction of reported cases after January 2004. The national alert enabled early control of new clusters, demonstrating the usefulness of early warning about antimicrobial drug resistance. PMID:16965700
On the Spectra of Real and Complex Lamé Operators
NASA Astrophysics Data System (ADS)
Haese-Hill, William A.; Hallnäs, Martin A.; Veselov, Alexander P.
2017-07-01
We study Lamé operators of the form L = -{d^2}/{dx^2} + m(m+1)ω^2\\wp(ω x+z_0), with m\\in{N} and ω a half-period of \\wp(z). For rectangular period lattices, we can choose ω and z_0 such that the potential is real, periodic and regular. It is known after Ince that the spectrum of the corresponding Lamé operator has a band structure with not more than m gaps. In the first part of the paper, we prove that the opened gaps are precisely the first m ones. In the second part, we study the Lamé spectrum for a generic period lattice when the potential is complex-valued. We concentrate on the m=1 case, when the spectrum consists of two regular analytic arcs, one of which extends to infinity, and briefly discuss the m=2 case, paying particular attention to the rhombic lattices.
ERIC Educational Resources Information Center
Qi, Cathy H.; Barton, Erin E.; Collier, Margo; Lin, Yi-Ling; Montoya, Charisse
2018-01-01
The purpose of this systematic review was to synthesize 22 single-case research design (SCRD) studies on social stories intervention for individuals with autism spectrum disorder (ASD). We used the What Works Clearinghouse (WWC) SCRD standards to analyze study rigor and evidence of a causal relation. We calculated four nonoverlap indices to…
Morphological Features in Children with Autism Spectrum Disorders: A Matched Case-Control Study
ERIC Educational Resources Information Center
Ozgen, Heval; Hellemann, Gerhard S.; Stellato, Rebecca K.; Lahuis, Bertine; van Daalen, Emma; Staal, Wouter G.; Rozendal, Marije; Hennekam, Raoul C.; Beemer, Frits A.; van Engeland, Herman
2011-01-01
This study was designed to examine morphological features in a large group of children with autism spectrum disorder versus normal controls. Amongst 421 patients and 1,007 controls, 224 matched pairs were created. Prevalence rates and odds ratios were analyzed by conditional regression analysis, McNemar test or paired t-test matched pairs.…
ERIC Educational Resources Information Center
Yakubova, Gulnoza; Hughes, Elizabeth M.; Shinaberry, Megan
2016-01-01
The purpose of this study was to determine the effectiveness of a video modeling intervention with concrete-representational-abstract instructional sequence in teaching mathematics concepts to students with autism spectrum disorder (ASD). A multiple baseline across skills design of single-case experimental methodology was used to determine the…
ERIC Educational Resources Information Center
Nickels, Paula Anderson
2010-01-01
This qualitative case study investigated the perceptions of parents of children with autism spectrum disorders (ASD), special education teachers, and general education teachers in a Northeast Tennessee public school system regarding educational interventions for children with ASD including what interventions they have found effective, the barriers…
Teacher Perceptions of the Impact of Digital Photo Stories on Students with Autism Spectrum Disorder
ERIC Educational Resources Information Center
Conn, Julie J.
2015-01-01
This study employed a qualitative method, multiple case study design to examine teacher perceptions of the impact of digital photo stories used as an instructional strategy with students with Autism Spectrum Disorder (ASD). Five highly qualified teachers of students with ASD from four public schools in a western North Carolina school district…
ERIC Educational Resources Information Center
Patterson, Stephanie Y.; Smith, Veronica
2011-01-01
A variety of parent-mediated communication intervention programs are available to families of young children with autism spectrum disorder including Hanen's "More Than Words" (MTW). Although the program is widely used, researchers understand little about parents' grasp of the information presented. Through a multiple case study, the unique…
HARMONIC SPACE ANALYSIS OF PULSAR TIMING ARRAY REDSHIFT MAPS
DOE Office of Scientific and Technical Information (OSTI.GOV)
Roebber, Elinore; Holder, Gilbert, E-mail: roebbere@physics.mcgill.ca
2017-01-20
In this paper, we propose a new framework for treating the angular information in the pulsar timing array (PTA) response to a gravitational wave (GW) background based on standard cosmic microwave background techniques. We calculate the angular power spectrum of the all-sky gravitational redshift pattern induced at the Earth for both a single bright source of gravitational radiation and a statistically isotropic, unpolarized Gaussian random GW background. The angular power spectrum is the harmonic transform of the Hellings and Downs curve. We use the power spectrum to examine the expected variance in the Hellings and Downs curve in both cases.more » Finally, we discuss the extent to which PTAs are sensitive to the angular power spectrum and find that the power spectrum sensitivity is dominated by the quadrupole anisotropy of the gravitational redshift map.« less
Kaplan, Bonnie J; Isaranuwatchai, Wanrudee; Hoch, Jeffrey S
2017-01-01
Healthcare costs are skyrocketing, with mental health treatment amongst the most expensive, especially when hospitalization is involved. According to the Mental Health Commission of Canada, one in five Canadians is living with a mental disorder in any given year, at an annual cost of $50 billion. In light of this societal burden, alternative approaches are being evaluated, such as brief psychotherapy by phone, peer support, and, as part of the emerging field of nutritional mental health, treatment with micronutrients (minerals and vitamins). Effectiveness of micronutrients has been demonstrated for many types of psychiatric symptoms, in about 45 studies of formulas that are either multinutrient (e.g., several B vitamins) or broad-spectrum (usually over 20 minerals and vitamins). Although this literature demonstrates therapeutic benefits, the potential economic impact of micronutrient treatment has been evaluated in only one case study of childhood psychosis. The current case study was initiated to evaluate mental health-related hospitalization costs from 1997 to 2003 for a female adult diagnosed with various mood and psychotic symptoms. She was treated for the first 5 years with conventional methods and then subsequently with a broad-spectrum micronutrient formula. The patient's annual mental health hospitalization costs during conventional treatment averaged $59,864 across 5 years (1997-2001), with a peak annual cost of about $140,000. Since transitioning to broad-spectrum micronutrients, she has incurred no provincial hospitalization costs for mental health care, though her self-funded costs are currently $720/year for the micronutrients. Further exploration of the treatment of mental health problems with broad-spectrum micronutrient formulas has the potential to make two significant contributions: improved mental health, and decreased costs for governments.
Jokiranta-Olkoniemi, Elina; Cheslack-Postava, Keely; Sucksdorff, Dan; Suominen, Auli; Gyllenberg, David; Chudal, Roshan; Leivonen, Susanna; Gissler, Mika; Brown, Alan S; Sourander, Andre
2016-06-01
Previous research has focused on examining the familial clustering of schizophrenia, bipolar disorder, and autism spectrum disorders (ASD). Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of persons with ASD. To examine the risk for psychiatric and neurodevelopmental disorders among full siblings of probands with ASD. The Finnish Prenatal Study of Autism and Autism Spectrum Disorders used a population-based cohort that included children born from January 1, 1987, to December 31, 2005, who received a diagnosis of ASD by December 31, 2007. Each case was individually matched to 4 control participants by sex and date and place of birth. The siblings of the cases and controls were born from January 1, 1977, to December 31, 2005, and received a diagnosis from January 1, 1987, to December 31, 2009. This nested case-control study included 3578 cases with ASD with 6022 full siblings and 11 775 controls with 22 127 siblings from Finnish national registers. Data were analyzed from March 6, 2014, to February 12, 2016. The adjusted risk ratio (RR) for psychiatric and neurodevelopmental disorders among siblings of probands with ASD vs siblings of matched controls. Additional analyses were conducted separately for ASD subgroups, including childhood autism, Asperger syndrome, and pervasive developmental disorders not otherwise specified. Analyses were further stratified by sex and intellectual disability among the probands. Among the 3578 cases with ASD (2841 boys [79.4%]) and 11 775 controls (9345 boys [79.4%]), 1319 cases (36.9%) and 2052 controls (17.4%) had at least 1 sibling diagnosed with any psychiatric or neurodevelopmental disorder (adjusted RR, 2.5; 95% CI, 2.3-2.6). The largest associations were observed for childhood-onset disorders (1061 cases [29.7%] vs 1362 controls [11.6%]; adjusted RR, 3.0; 95% CI, 2.8-3.3), including ASD (374 cases [10.5%] vs 125 controls [1.1%]; adjusted RR, 11.8; 95% CI, 9.4-14.7), tic disorders (28 cases [0.8%] vs 24 controls [0.2%]; adjusted RR, 4.3; 95% CI, 2.3-8.2), attention-deficit/hyperactivity disorder (189 cases [5.3%] vs 180 controls [1.5%]; adjusted RR, 3.7; 95% CI, 2.9-4.7), learning and coordination disorders (563 cases [15.7%] vs 697 controls [5.9%]; adjusted RR, 3.2; 95% CI, 2.8-3.6), intellectual disability (104 cases [2.9%] vs 137 controls [1.2%]; adjusted RR, 3.1; 95% CI, 2.3-4.2), conduct and oppositional disorders (180 cases [5.0%] vs 221 controls [1.9%]; adjusted RR, 2.8; 95% CI, 2.2-3.5), and emotional disorders with onset specific to childhood (126 cases [3.5%] vs 157 controls [1.3%]; adjusted RR, 2.6; 95% CI, 1.9-3.4). Autism spectrum disorders were also associated with schizophrenia spectrum disorders, affective disorders, anxiety disorders, and other neurotic and personality disorders among siblings. Psychiatric and neurodevelopmental disorders cluster among siblings of probands with ASD. For etiologic research, these findings provide further evidence that several psychiatric and neurodevelopmental disorders have common risk factors.
Chikvaidze, E; Khachatryan, I
2011-08-01
The ESR spectra of melanin's free radicals in natural black and red hair have been investigated. It is shown that the ESR spectrum of black hair is slightly asymmetric singlet with g=2.0037 and ΔH=0.5 mTl. The ESR spectrum of red hair with g=2.0053 differs from the spectrum of black hair. Using the method of saturation was shown that ESR spectrum of red hair represents a superposition of two signals: a singlet, relating to the black hair, and a triplet from red hair's pheomelanin. Under the influence of visible light (blue with λ(max) =450 nm, green with λ(max) =510 nm and red with λ(max) =650 nm) in both types of hair (black and red), the photoinduced free radicals appear, which indicates an increase in the intensity of already existing ESR spectrum of hair. It should be noted that the ESR spectra of red hair from various donors are different. The antioxidant ascorbic acid (vitamin C) has the different effect on the photoinduced free radicals. In particular, in the case of black hair, the concentration of photoinduced free radicals is slightly reduced, whereas in red hair, the disappearance of the triplet in the spectrum is observed, and at the same time, the spectrum becomes a singlet, the intensity of which increases sharply. It is assumed that the antioxidants, effective for black hair, may be ineffective for red hair and vice versa. Therefore, in each, specific case is necessary to investigate the effectiveness of an antioxidant separately. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.
Hayashi, Yuichi; Koumura, Akihiro; Yamada, Megumi; Kimura, Akio; Shibata, Toshirou; Inuzuka, Takashi
2017-07-01
To address occipital neuralgia in patients with neuromyelitis optica spectrum disorder (NMOSD). NMOSD is an inflammatory demyelinating disease that commonly presents with pain; however, headache symptoms have received little attention. We presented three cases of NMOSD in which the patients experienced acute-onset, severe, and steroid-responsive occipital neuralgia. All patients provided consent to use their demographic and imaging data retrospectively. In all three cases, MRI revealed a new high-intensity area in the cervical cord at the C1-C3 level of the spine, which was diminished in two of the three cases after corticosteroid pulse therapy. Our cases support the recognition of NMOSD as a cause of secondary headache. As patients with NMOSD experience severe occipital neuralgia, a relapse should be considered and a cervical MRI should be performed. © 2017 American Headache Society.
NASA Technical Reports Server (NTRS)
Bergstrom, Robert W.; Mlawer, Eli J.; Sokolik, Irina N.; Clough, Shepard A.; Toon, Owen B.
1998-01-01
This paper presents a radiative transfer model that has been developed to accurately predict the atmospheric radiant flux in both the infrared and the solar spectrum with a minimum of computational effort. The model is designed to be included in numerical climate models. To assess the accuracy of the model, the results are compared to other more detailed models for several standard cases in the solar and thermal spectrum. As the thermal spectrum has been treated in other publications, we focus here on the solar part of the spectrum. We perform several example calculations focussing on the question of absorption of solar radiation by gases and aerosols.
NASA Technical Reports Server (NTRS)
Bergstrom, Robert W.
1998-01-01
This paper presents a radiative transfer model that has been developed to accurately predict the atmospheric radiant flux in both the infrared and the solar spectrum with a minimum of computational effort. The model is designed to be included in numerical climate models. To assess the accuracy of the model, the results are compared to other more detailed models for several standard cases in the solar and thermal spectrum. As the thermal spectrum has been treated in other publications we focus here on the solar part of the spectrum. We perform several example calculations focussing on the question of absorption of solar radiation by gases and aerosols.
Russell, Ailsa J; Murphy, Clodagh M; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M; Craig, Michael C; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M; Spain, Deborah; Murphy, Declan Gm
2016-07-01
Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric co-morbidity in autism spectrum disorder remain unclear. A retrospective case review of 859 adults referred for assessment of autism spectrum disorder compares International Classification of Diseases, Tenth Revision diagnoses in those that met criteria for autism spectrum disorder (n = 474) with those that did not (n = 385). Rates of psychiatric diagnosis (>57%) were equivalent across both groups and exceeded general population rates for a number of conditions. The prevalence of anxiety disorders, particularly obsessive compulsive disorder, was significantly higher in adults with autism spectrum disorder than adults without autism spectrum disorder. Limitations of this observational clinic study, which may impact generalisability of the findings, include the lack of standardised structured psychiatric diagnostic assessments by assessors blind to autism spectrum disorder diagnosis and inter-rater reliability. The implications of this study highlight the need for careful consideration of mental health needs in all adults referred for autism spectrum disorder diagnosis. © The Author(s) 2015.
Use of a priori spectral information in the measurement of x-ray flux with filtered diode arrays
Marrs, R. E.; Widmann, K.; Brown, G. V.; ...
2015-10-29
Filtered x-ray diode (XRD) arrays are often used to measure x-ray spectra vs. time from spectrally continuous x-ray sources such as hohlraums. A priori models of the incident x-ray spectrum enable a more accurate unfolding of the x-ray flux as compared to the standard technique of modifying a thermal Planckian with spectral peaks or dips at the response energy of each filtered XRD channel. A model x-ray spectrum consisting of a thermal Planckian, a Gaussian at higher energy, and (in some cases) a high energy background provides an excellent fit to XRD-array measurements of x-ray emission from laser heated hohlraums.more » If high-resolution measurements of part of the x-ray emission spectrum are available, that information can be included in the a priori model. In cases where the x-ray emission spectrum is not Planckian, candidate x-ray spectra can be allowed or excluded by fitting them to measured XRD voltages. Here, examples are presented from the filtered XRD arrays, named Dante, at the National Ignition Facility and the Laboratory for Laser Energetics.« less
Marjanovic, Ivan; Sarac, Momir; Tomic, Aleksandar; Bezmarevic, Mihailo
2013-10-01
A mycotic aneurysm of the thoracic aorta is a rare diagnosis with high mortality. We present two cases of endovascular reconstruction of mycotic descending thoracic aorta. Specific or nonspecific bacterial or other infectious agent in serial samples of blood, urine, cerebrospinal fluid, and pleural puncture was not detected in the first case, but we found in sputum sample Mycobacterium tuberculosis in the second patient. We empirically began by administering broad-spectrum intravenous antibiotics in the first case, with preoperative antibiotic prophylaxis and antituberculotic drugs therapy in the second case, and continued with the same medication for 4 months after endovascular repair. Control computed tomographic scans 6 months after reconstruction showed no endoleak in both patients. Repair of mycotic descending thoracic aortic aneurysms by endoluminal stent graft is reasonable alternative to open surgical intervention. A broad-spectrum antibiotic therapy has a high significance in the treatment of patients with mycotic aneurysm. Georg Thieme Verlag KG Stuttgart · New York.
ERIC Educational Resources Information Center
Charron, Nancy; Lewis, Lundy; Craig, Michael
2017-01-01
The purpose of this article is to describe a possible methodology for developing joint attention skills in students with autism spectrum disorder. Co-robot therapy with the humanoid robot NAO was used to foster a student's joint attention skill development; 20-min sessions conducted once weekly during the school year were video recorded and…
On the intrinsic spectrum of PKS 2155-304 from the H.E.S.S. 2003 data.
NASA Astrophysics Data System (ADS)
Costamante, L.; Aharonian, F.; Benbow, W.; Horns, D.; Reimer, A.; Reimer, O.; Rowell, G.; H.E.S.S. Collaboration
2004-08-01
In 2003, PKS 2155-304 (z=0.116) has been significantly detected by H.E.S.S. ( 44sigma) at TeV energies, with an average spectrum of Γ =3.3. Due to absorption by the Extragalactic Background Light (EBL), the intrinsic spectrum is heavily modified both in shape and intensity. To correct for this effect, and see where could be the Inverse Compton (IC) peak of the SED, we used 3 EBL models (representatives of 3 different flux levels for the stellar peak component). The resulting TeV spectrum has a peak around 1 TeV for stellar peak fluxes above the Primack (2001) calculation, while the spectrum is steeper than 2 (thus locating the IC peak <200 GeV) for fluxes below. With bulk Lorentz factors δ =20-30 (typically used for this object), in the first case the IC peak is in the Klein-Nishina transition region, while in the other case it is in the Thomson regime, and in agreement with the commonly fitted source parameters (e.g. Tavecchio et al. 1998). The constraint on δ given by transparency to 1-2 TeV photons is δ >19 (for historical SED fluxes and 2 hrs variability timescale).
Sub-MeV bosonic dark matter, misalignment mechanism, and galactic dark matter halo luminosities
NASA Astrophysics Data System (ADS)
Yang, Qiaoli; Di, Haoran
2017-04-01
We explore a scenario that dark matter is a boson condensate created by the misalignment mechanism, in which a spin 0 boson (an axionlike particle) and a spin 1 boson (the dark photon) are considered, respectively. We find that although the sub-MeV dark matter boson is extremely stable, the huge number of dark matter particles in a galaxy halo makes the decaying signal detectable. A galaxy halo is a large structure bounded by gravity with a typical ˜1 012 solar mass, and the majority of its components are made of dark matter. For the axionlike particle case, it decays via ϕ →γ γ , therefore the photon spectrum is monochromatic. For the dark photon case, it is a three body decay A'→γ γ γ . However, we find that the photon spectrum is heavily peaked at M /2 and thus can facilitate observation. We also suggest a physical explanation for the three body decay spectrum by comparing the physics in the decay of orthopositronium. In addition, for both cases, the decaying photon flux can be measured for some regions of parameter space using current technologies.
NASA Astrophysics Data System (ADS)
Sakhr, Jamal; Nieminen, John M.
2018-03-01
Two decades ago, Wang and Ong, [Phys. Rev. A 55, 1522 (1997)], 10.1103/PhysRevA.55.1522 hypothesized that the local box-counting dimension of a discrete quantum spectrum should depend exclusively on the nearest-neighbor spacing distribution (NNSD) of the spectrum. In this Rapid Communication, we validate their hypothesis by deriving an explicit formula for the local box-counting dimension of a countably-infinite discrete quantum spectrum. This formula expresses the local box-counting dimension of a spectrum in terms of single and double integrals of the NNSD of the spectrum. As applications, we derive an analytical formula for Poisson spectra and closed-form approximations to the local box-counting dimension for spectra having Gaussian orthogonal ensemble (GOE), Gaussian unitary ensemble (GUE), and Gaussian symplectic ensemble (GSE) spacing statistics. In the Poisson and GOE cases, we compare our theoretical formulas with the published numerical data of Wang and Ong and observe excellent agreement between their data and our theory. We also study numerically the local box-counting dimensions of the Riemann zeta function zeros and the alternate levels of GOE spectra, which are often used as numerical models of spectra possessing GUE and GSE spacing statistics, respectively. In each case, the corresponding theoretical formula is found to accurately describe the numerically computed local box-counting dimension.
Lanjewar, Dhanesheshwar N; Bhatia, Varsha Omprakash; Lanjewar, Sonali Dhaneshwar
2016-01-01
Human immunodeficiency virus (HIV) infection in India has now been prevalent over three decades, and an increasing number of children are being affected with HIV. The spectrum of pathologic lesions in children with acquired immunodeficiency syndrome (AIDS) in India has not been well described. A review of systematically conducted autopsies of 11 (10 boys and 1 girl) children with AIDS is presented. The mode of HIV transmission in 6 children was vertical; in one it was blood transfusion and in 4 children route was presumably vertical as these were children of orphanage. The clinical manifestations were failure to thrive; 9 children, persistent gastroenteritis; 8, recurrent fever; 5, bacterial infections; 5, hepatosplenomegaly; 5, candidiasis; 1, scabies; 1, skin rash; 2, tuberculous (TB) meningitis; 1 and paraplegia; in 1 child. The spectrum of pathologic lesions observed were precocious involution in thymus in 3 and dysinvolution in 2 cases. Infectious diseases comprised of TB; 4 cases, cytomegalovirus infection (CMV) 4; bacterial pneumonia and meningitis; 7, and esophageal candidiasis in 2 cases. Dual or multiple infections were observed in 9 (82%) cases; these comprised of two lesions in 2, three lesions in 2, four lesions in 4, and five lesions in 1 case. TB, bacterial pneumonia, meningitis, and CMV infection are the most frequent causes of death in children with AIDS. Vascular lesions showing features of arteriopathy were observed in 5 cases and brain in one case showed non-Hodgkin's lymphoma. This study provides a better insight into the spectrum of pathologic lesions in children with AIDS in India. TB and CMV infection has been found to be the most prevalent infection in our children.
ERIC Educational Resources Information Center
Lamb, Penny; Firbank, Dianna; Aldous, David
2016-01-01
The potential benefits of physical education (PE) are universal for all pupils. However, facilitating such benefits in children with autism spectrum disorders (ASD) requires careful planning. This paper reports on a small-scale case study at one school in eastern England, exploring physical education through the eyes of children (n = 5), aged…
Otitis Media and Related Complications among Children with Autism Spectrum Disorders
ERIC Educational Resources Information Center
Adams, Daniel J.; Susi, Apryl; Erdie-Lalena, Christine R.; Gorman, Gregory; Hisle-Gorman, Elizabeth; Rajnik, Michael; Elrod, Marilisa; Nylund, Cade M.
2016-01-01
Acute otitis media (AOM) symptoms can be masked by communication deficits, common to children with autism spectrum disorders (ASD). We sought to evaluate the association between ASD and otitis media. Using ICD-9-CM diagnostic codes, we performed a retrospective case-cohort study comparing AOM, and otitis-related diagnoses among children with and…
Chronic Disease Risks in Young Adults with Autism Spectrum Disorder: Forewarned Is Forearmed
ERIC Educational Resources Information Center
Tyler, Carl V.; Schramm, Sarah C.; Karafa, Matthew; Tang, Anne S.; Jain, Anil K.
2011-01-01
An emerging, cost-effective method to examine prevalent and future health risks of persons with disabilities is electronic health record (EHR) analysis. As an example, a case-control EHR analysis of adults with autism spectrum disorder receiving primary care through the Cleveland Clinic from 2005 to 2008 identified 108 adults with autism spectrum…
ERIC Educational Resources Information Center
Lanou, Aaron; Hough, Lauren; Powell, Elizabeth
2012-01-01
Students on the autism spectrum present with difficulties in a variety of areas, including social understanding, emotional regulation, academics, and behavior. Professionals working in the field of autism must identify and address these areas of need given each individual child's specific cognitive profiles. In this article the authors highlight…
ERIC Educational Resources Information Center
Wehman, Paul; Schall, Carol; McDonough, Jennifer; Molinelli, Alissa; Riehle, Erin; Ham, Whitney; Thiss, Weston R.
2013-01-01
Supporting youth with autism spectrum disorder (ASD) in the transition to adulthood is challenging. This article provides a description of how Project SEARCH, a model transition program for youth with disabilities, was used to help youth with ASD gain competitive employment. This article includes two case studies and a thorough description of the…
Peculiarities of the electron energy spectrum in the Coulomb field of a superheavy nucleus
NASA Astrophysics Data System (ADS)
Voronov, B. L.; Gitman, D. M.; Levin, A. D.; Ferreira, R.
2016-05-01
We consider the peculiarities of the electron energy spectrum in the Coulomb field of a superheavy nucleus and discuss the long history of an incorrect interpretation of this problem in the case of a pointlike nucleus and its current correct solution. We consider the spectral problem in the case of a regularized Coulomb potential. For some special regularizations, we derive an exact equation for the point spectrum in the energy interval (-m,m) and find some of its solutions numerically. We also derive an exact equation for charges yielding bound states with the energy E = -m; some call them supercritical charges. We show the existence of an infinite number of such charges. Their existence does not mean that the oneparticle relativistic quantum mechanics based on the Dirac Hamiltonian with the Coulomb field of such charges is mathematically inconsistent, although it is physically unacceptable because the spectrum of the Hamiltonian is unbounded from below. The question of constructing a consistent nonperturbative second-quantized theory remains open, and the consequences of the existence of supercritical charges from the standpoint of the possibility of constructing such a theory also remain unclear.
Relativistic and thermal effects on the magnon spectrum of a ferromagnetic monolayer.
Rózsa, L; Udvardi, L; Szunyogh, L
2013-12-18
A spin model including magnetic anisotropy terms and Dzyaloshinsky-Moriya interactions is studied for the case of a ferromagnetic monolayer with C2v symmetry like Fe/W(110). Using the quasiclassical stochastic Landau-Lifshitz-Gilbert equations, the magnon spectrum of the system is derived using linear response theory. The Dzyaloshinsky-Moriya interaction leads to asymmetry in the spectrum, while the anisotropy terms induce a gap. It is shown that, in the presence of lattice defects, both the Dzyaloshinsky-Moriya interactions and the two-site anisotropy lead to a softening of the magnon energies. Two methods are developed to investigate the magnon spectrum at finite temperatures. The theoretical results are compared to atomistic spin dynamics simulations and good agreement is found between them.
Non-Gaussianities and curvature perturbations from hybrid inflation
NASA Astrophysics Data System (ADS)
Clesse, Sébastien; Garbrecht, Björn; Zhu, Yi
2014-03-01
For the original hybrid inflation as well as the supersymmetric F-term and D-term hybrid models, we calculate the level of non-Gaussianities and the power spectrum of curvature perturbations generated during the waterfall, taking into account the contribution of entropic modes. We focus on the regime of mild waterfall, in which inflation continues for more than about 60 e-folds N during the waterfall. We find that the associated fNL parameter goes typically from fNL≃-1/Nexit in the regime with N ≫60, where Nexit is the number of e-folds between the time of Hubble exit of a pivot scale and the end of inflation, down to fNL˜-0.3 when N ≳60, i.e., much smaller in magnitude than the current bound from Planck. Considering only the adiabatic perturbations, the power spectrum is red, with a spectral index ns=1-4/Nexit in the case N ≫60, whereas in the case N≳60, it increases up to unity. Including the contribution of entropic modes does not change observable predictions in the first case, and the spectral index is too low for this regime to be viable. In the second case, entropic modes are a relevant source for the power spectrum of curvature perturbations, of which the amplitude increases by several orders of magnitude. When spectral index values are consistent with observational constraints, the primordial spectrum amplitude is much larger than the observed value and can even lead to black hole formation. We conclude that, due to the important contribution of entropic modes, the parameter space leading to a mild waterfall phase is excluded by cosmic microwave background observations for all the considered models.
Maternal Infection during Pregnancy and Autism Spectrum Disorders
Zerbo, Ousseny; Qian, Yinge; Yoshida, Cathleen; Grether, Judith K.; Van de Water, Judy; Croen, Lisa A.
2014-01-01
We conducted a nested case-control study including 407 cases and 2075 frequency matched controls to investigate the association between maternal infections during pregnancy and risk of autism spectrum disorders (ASD). Cases, controls, and maternal infections were ascertained from Kaiser Permanente Northern California clinical databases. No overall association between diagnoses of any maternal infection during pregnancy and ASD (adjusted odds ratio [ORadj] = 1.15, 95% confidence interval [CI] 0.92 – 1.43). However, women with infections diagnosed during a hospital admission (ORadj= 1.48, 95% CI1.07 – 2.04), particularly bacterial infections (ORadj = 1.58, 95% CI 1.06 – 2.37), were at increased risk of delivering a child with ASD. Multiple infections during pregnancy were associated with ASD (ORadj = 1.36, 95% CI 1.05 – 1.78). PMID:24366406
BINGO: a code for the efficient computation of the scalar bi-spectrum
NASA Astrophysics Data System (ADS)
Hazra, Dhiraj Kumar; Sriramkumar, L.; Martin, Jérôme
2013-05-01
We present a new and accurate Fortran code, the BI-spectra and Non-Gaussianity Operator (BINGO), for the efficient numerical computation of the scalar bi-spectrum and the non-Gaussianity parameter fNL in single field inflationary models involving the canonical scalar field. The code can calculate all the different contributions to the bi-spectrum and the parameter fNL for an arbitrary triangular configuration of the wavevectors. Focusing firstly on the equilateral limit, we illustrate the accuracy of BINGO by comparing the results from the code with the spectral dependence of the bi-spectrum expected in power law inflation. Then, considering an arbitrary triangular configuration, we contrast the numerical results with the analytical expression available in the slow roll limit, for, say, the case of the conventional quadratic potential. Considering a non-trivial scenario involving deviations from slow roll, we compare the results from the code with the analytical results that have recently been obtained in the case of the Starobinsky model in the equilateral limit. As an immediate application, we utilize BINGO to examine of the power of the non-Gaussianity parameter fNL to discriminate between various inflationary models that admit departures from slow roll and lead to similar features in the scalar power spectrum. We close with a summary and discussion on the implications of the results we obtain.
A first-principle calculation of the XANES spectrum of Cu2+ in water
NASA Astrophysics Data System (ADS)
La Penna, G.; Minicozzi, V.; Morante, S.; Rossi, G. C.; Stellato, F.
2015-09-01
The progress in high performance computing we are witnessing today offers the possibility of accurate electron density calculations of systems in realistic physico-chemical conditions. In this paper, we present a strategy aimed at performing a first-principle computation of the low energy part of the X-ray Absorption Spectroscopy (XAS) spectrum based on the density functional theory calculation of the electronic potential. To test its effectiveness, we apply the method to the computation of the X-ray absorption near edge structure part of the XAS spectrum in the paradigmatic, but simple case of Cu2+ in water. In order to keep into account the effect of the metal site structure fluctuations in determining the experimental signal, the theoretical spectrum is evaluated as the average over the computed spectra of a statistically significant number of simulated metal site configurations. The comparison of experimental data with theoretical calculations suggests that Cu2+ lives preferentially in a square-pyramidal geometry. The remarkable success of this approach in the interpretation of XAS data makes us optimistic about the possibility of extending the computational strategy we have outlined to the more interesting case of molecules of biological relevance bound to transition metal ions.
Spectral mismatch and solar simulator quality factor in advanced LED solar simulators
NASA Astrophysics Data System (ADS)
Scherff, Maximilian L. D.; Nutter, Jason; Fuss-Kailuweit, Peter; Suthues, Jörn; Brammer, Torsten
2017-08-01
Solar cell simulators based on light emitting diodes (LED) have the potential to achieve a large potential market share in the next years. As advantages they can provide a short and long time stable spectrum, which fits very well to the global AM1.5g reference spectrum. This guarantees correct measurements during the flashes and throughout the light engines’ life span, respectively. Furthermore, a calibration with a solar cell type of different spectral response (SR) as well as the production of solar cells with varying SR in between two calibrations does not affect the correctness of the measurement result. A high quality 21 channel LED solar cell spectrum is compared to former study comprising a standard modified xenon spectrum light source. It is shown, that the spectrum of the 21-channel-LED light source performs best for all examined cases.
Postorgasm illness syndrome--a spectrum of illnesses.
Ashby, Jane; Goldmeier, David
2010-05-01
We describe two men with marked symptoms following orgasm. In each case, the symptoms were consistent with those found in postorgasm illness syndrome (POIS). Further elucidation of the cause of the patients' symptoms. Both cases were investigated for causes of POIS with biochemical, hormonal, neurological, autonomic, cardiological, and psychological workup. Extensive investigation did not reveal a major organic cause for these patients' symptoms. Detailed history revealed likely differing etiologies in each case. In one case, the symptom picture suggested cytokine release, and, in fact, the patient subjectively improved by 80% on taking nonsteroidal anti-inflammatory drugs just prior to and for a day or two after orgasm. The other case appeared to have an ethnic/cultural etiology that was associated with the "Dhat" syndrome. The apparent differing etiologies/clinical associations of these cases highlight the need for careful history, examination, and investigations in patients presenting with POIS. We recommend that each case needs individual consideration and investigation, and treatment needs to be tailored to the likely cause. It seems likely that POIS represents a spectrum of syndromes of differing etiologies. Further research into the neurobiochemical sequelae of orgasm will be useful in understanding the pathological processes in these cases.
Bone Mineral Density in Boys Diagnosed with Autism Spectrum Disorder: A Case-Control Study
ERIC Educational Resources Information Center
Barnhill, Kelly; Ramirez, Lucas; Gutierrez, Alan; Richardson, Wendy; Marti, C. Nathan; Potts, Amy; Shearer, Rebeca; Schutte, Claire; Hewitson, Laura
2017-01-01
This study compared bone mineral density (BMD) of the spine obtained by dual-energy X-ray absorptiometry (DEXA), nutritional status, biochemical markers, and gastrointestinal (GI) symptoms in 4-8 year old boys with Autism Spectrum Disorder (ASD) with a group of age-matched, healthy boys without ASD. Boys with ASD had significantly lower spine BMD…
ERIC Educational Resources Information Center
Hawkins, Emma; Kingsdorf, Sheri; Charnock, Jackie; Szabo, Mariann; Middleton, Edi; Phillips, Jo; Gautreaux, Grant
2011-01-01
This article describes how a behaviour contract has been implemented to achieve positive and enduring results for four boys with a diagnosis of an autistic spectrum disorder (ASD). Four case studies are described which address reductions in behaviours such as assaultive and destructive behaviour, out-of-seat behaviour, inappropriate contact with…
ERIC Educational Resources Information Center
Xu, Guifeng; Jing, Jin; Bowers, Katherine; Liu, Buyun; Bao, Wei
2014-01-01
We performed a systematic literature search regarding maternal diabetes before and during pregnancy and the risk of autism spectrum disorders (ASD) in the offspring. Of the 178 potentially relevant articles, 12 articles including three cohort studies and nine case-control studies were included in the meta-analysis. Both the meta-analyses of cohort…
Brief Report: Prevalence of Autistic Spectrum Disorders in the Sultanate of Oman
ERIC Educational Resources Information Center
Al-Farsi, Yahya M.; Al-Sharbati, Marwan M.; Al-Farsi, Omar A.; Al-Shafaee, Mohammed S.; Brooks, Daniel R.; Waly, Mostafa I.
2011-01-01
Prevalence of autistic spectrum disorders (ASD) in Oman is unknown. We conducted a cross-sectional study to estimate the prevalence of ASD among 0-14 year old children. Diagnoses were made as per DSM-IV-TR criteria and supplemented with information collected with the standard Childhood Autism Rating Scale (CARS) questionnaire. A total 113 cases of…
ERIC Educational Resources Information Center
Martinez, Jose R.; Werch, Brittany L.; Conroy, Maureen A.
2016-01-01
The purpose of this review was to critically examine and summarize the impact of school-based interventions designed to decrease challenging behaviors in young children with Autism Spectrum Disorder (ASD). Reviewed studies employed a single-case experimental design, targeted challenging behaviors, included children 3-8 years old with ASD, and took…
IUE observations of extragalactic objects
NASA Technical Reports Server (NTRS)
Boksenberg, A.; Snijders, M. A. J.; Wilson, R.; Benvenuti, P.; Clavell, J.; Macchetto, F.; Penston, M.; Boggess, A.; Gull, T. R.; Gondhalekar, P.
1978-01-01
During the commissioning phase of IUE several extragalactic objects were observed spectrally at low dispersion in the UV range lambda lambda 1150-3200: the Seyfert galaxies NGC4151 and NGC1068, the QSO 3C273, the BL Lacertae object B2 1101+38, the giant elliptical galaxy M87 and the spiral galaxy M81. The results obtained are presented and a preliminary analysis given for all six objects, discussing the continuous spectrum, extinction, emission line spectrum and absorption line spectrum, where possible for each case. Several new or confirmatory astrophysical results are obtained.
Earth's transmission spectrum from lunar eclipse observations.
Pallé, Enric; Osorio, María Rosa Zapatero; Barrena, Rafael; Montañés-Rodríguez, Pilar; Martín, Eduardo L
2009-06-11
Of the 342 planets so far discovered orbiting other stars, 58 'transit' the stellar disk, meaning that they can be detected through a periodic decrease in the flux of starlight. The light from the star passes through the atmosphere of the planet, and in a few cases the basic atmospheric composition of the planet can be estimated. As we get closer to finding analogues of Earth, an important consideration for the characterization of extrasolar planetary atmospheres is what the transmission spectrum of our planet looks like. Here we report the optical and near-infrared transmission spectrum of the Earth, obtained during a lunar eclipse. Some biologically relevant atmospheric features that are weak in the reflection spectrum (such as ozone, molecular oxygen, water, carbon dioxide and methane) are much stronger in the transmission spectrum, and indeed stronger than predicted by modelling. We also find the 'fingerprints' of the Earth's ionosphere and of the major atmospheric constituent, molecular nitrogen (N(2)), which are missing in the reflection spectrum.
Some preliminary calculations of whole atom Compton scattering of unpolarized photons
NASA Astrophysics Data System (ADS)
Bergstrom, P. M.; Surić, T.; Pisk, K.; Pratt, R. H.
1992-07-01
This paper represents a preliminary attempt to develop a practical prescription for calculating whole atom cross sections for the Compton scattering of unpolarized photons from the bound electrons of an atom for the entire spectrum of scattered photon energies. We initially study the scattering of 2.94 keV photons from carbon. We make use of our new second order S-matrix computer code in this case to verify that, when our recently developed criterion for the validity of the relativistic impulse approximation (which concerns the average momentum contributing to the photon spectrum ( pav)) is satisfied, the spectrum is adequately described by the impulse approximation. This criterion is generally satisfied in the peak intensity region for scattering by the outer shells, which dominate at these scattered photon energies. For soft scattered photons, however, the spectrum, dominated by K shell contributions, is given by terms corresponding to the contribution of the " p· A" term in the nonrelativistic interaction Hamiltonian, not included in the impulse approximation. Here, the spectrum is adequately reproduced by the K shell contribution. We then consider scattering of 17.4 keV photons from aluminum and 279.1 keV photons from lead. In these cases we use the S-matrix for the K shell and the impulse approximation for the outer shells, and find good agreement with experiment.
Entanglement in 3D Kitaev spin liquids
NASA Astrophysics Data System (ADS)
Matern, S.; Hermanns, M.
2018-06-01
Quantum spin liquids are highly fascinating quantum liquids in which the spin degrees of freedom fractionalize. An interesting class of spin liquids are the exactly solvable, three-dimensional Kitaev spin liquids. Their fractionalized excitations are Majonara fermions, which may exhibit a variety of topological band structures—ranging from topologically protected Weyl semi-metals over nodal semi-metals to systems with Majorana Fermi surfaces. We study the entanglement spectrum of such Kitaev spin liquids and verify that it is closely related to the topologically protected edge spectrum. Moreover, we find that in some cases the entanglement spectrum contains even more information about the topological features than the surface spectrum, and thus provides a simple and reliable tool to probe the topology of a system.
Sreedaran, Priya; Ashok, M. V.
2015-01-01
Asperger syndrome (AS) is an autism spectrum disorder with a high rate of psychiatric comorbidity. We describe the clinical profile and psychiatric comorbidity in a series of affected individuals referred to an Indian general hospital psychiatry setting. Gilliam Asperger's disorder scale was used to evaluate the clinical characteristics while Mini-International Neuropsychiatric Interview (MINI)-KID and MINI-PLUS were used to assess psychiatric comorbidity. The profile of subjects with AS in our case-series appears similar to that published elsewhere with high rates of psychiatric comorbidity. Mental health professionals should evaluate for psychiatric comorbidity in individuals with autism spectrum disorders. PMID:25969609
Sreedaran, Priya; Ashok, M V
2015-01-01
Asperger syndrome (AS) is an autism spectrum disorder with a high rate of psychiatric comorbidity. We describe the clinical profile and psychiatric comorbidity in a series of affected individuals referred to an Indian general hospital psychiatry setting. Gilliam Asperger's disorder scale was used to evaluate the clinical characteristics while Mini-International Neuropsychiatric Interview (MINI)-KID and MINI-PLUS were used to assess psychiatric comorbidity. The profile of subjects with AS in our case-series appears similar to that published elsewhere with high rates of psychiatric comorbidity. Mental health professionals should evaluate for psychiatric comorbidity in individuals with autism spectrum disorders.
Keelan, Jennifer
2011-01-01
The US Court of Federal Claims, which adjudicates cases for the National Vaccine Injury Compensation Program, has been confronted with more than 5000 cases submitted on behalf of children with autism spectrum disorders, seeking to link the condition to vaccination. Through a test case process, the Omnibus Autism Proceedings have in every instance found no association between autism spectrum disorders and vaccines. However, vaccine advocates have criticized the courts for having an overly permissive evidentiary test for causation and for granting credence to insupportable accusations of vaccine harm. In fact, the courts have functioned as intended and have allowed for a fair hearing of vaccine concerns while maintaining confidence in vaccines and providing protection to vaccine manufacturers. PMID:21940934
Oral health among preschool children with autism spectrum disorders: A case-control study.
Du, Rennan Y; Yiu, Cynthia Ky; King, Nigel M; Wong, Virginia Cn; McGrath, Colman Pj
2015-08-01
To assess and compare the oral health status of preschool children with and without autism spectrum disorders. A random sample of 347 preschool children with autism spectrum disorder was recruited from 19 Special Child Care Centres in Hong Kong. An age- and gender-matched sample was recruited from mainstream preschools as the control group. Dental caries status, gingival health status, tooth wear, malocclusion, dental trauma and oral mucosal health were assessed and compared between the two groups. It was feasible to conduct a comprehensive oral health screening among 74.1% (257) of the children with autism spectrum disorder. The mean age was 59 ± 10 months (range from 32 to 77 months), of whom 84.4% were males. Children with autism spectrum disorder had better gingival health than children without autism spectrum disorder (mean plaque score and gingival score p < 0.001). Children with autism spectrum disorder had less caries experiences than children without autism spectrum disorder (mean decayed, missing and filled surfaces and decayed surfaces, p < 0.05). Children with and without autism spectrum disorder had similar prevalence of tooth wear, malocclusion, dental trauma experience and oral mucosal lesions (p > 0.05). Differences in oral health status exist among preschool children with and without autism spectrum disorder. Preschool children with autism spectrum disorder exhibited lower caries experiences and better gingival health than children without autism spectrum disorder. © The Author(s) 2014.
ERIC Educational Resources Information Center
Lee, Sharon Y.; Lo, Ya-yu; Lo, Yafen
2017-01-01
The researchers used a single-case, multiple probe design across three sets of toys (i.e., farm toy, doctor's clinic toy, and rescue toy) to examine the effects of video self-modeling (VSM) on the functional play skills of a 5-year-old child with autism spectrum disorder. The findings showed a functional relation between VSM and increased…
ERIC Educational Resources Information Center
Kim, Hyun Uk; Roberti, Marilyn
2014-01-01
Language differences in children with Autism Spectrum Conditions (ASC) often lead professionals to believe that children with ASC cannot or should not become bilingual, thus advising parents with a child with ASC raised in a bilingual household to adhere to English only. Emerging studies, however, attest that children with ASC can become…
ERIC Educational Resources Information Center
Rutherford, Marion; McKenzie, Karen; Johnson, Tess; Catchpole, Ciara; O'Hare, Anne; McClure, Iain; Forsyth, Kirsty; McCartney, Deborah; Murray, Aja
2016-01-01
This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish…
Flat-Spectrum Radio Sources as Likely Counterparts of Unidentified INTEGRAL Sources (Research Note)
NASA Technical Reports Server (NTRS)
Molina, M.; Landi, R.; Bassani, L.; Malizia, A.; Stephen, J. B.; Bazzano, A.; Bird, A. J.; Gehrels, N.
2012-01-01
Many sources in the fourth INTEGRAL/IBIS catalogue are still unidentified since they lack an optical counterpart. An important tool that can help in identifying and classifying these sources is the cross-correlation with radio catalogues, which are very sensitive and positionally accurate. Moreover, the radio properties of a source, such as the spectrum or morphology, could provide further insight into its nature. In particular, flat-spectrum radio sources at high Galactic latitudes are likely to be AGN, possibly associated to a blazar or to the compact core of a radio galaxy. Here we present a small sample of 6 sources extracted from the fourth INTEGRAL/IBIS catalogue that are still unidentified or unclassified, but which are very likely associated with a bright, flat-spectrum radio object. To confirm the association and to study the source X-ray spectral parameters, we performed X-ray follow-up observations with Swift/XRT of all objects. We report in this note the overall results obtained from this search and discuss the nature of each individual INTEGRAL source. We find that 5 of the 6 radio associations are also detected in X-rays; furthermore, in 3 cases they are the only counterpart found. More specifically, IGR J06073-0024 is a flat-spectrum radio quasar at z = 1.08, IGR J14488-4008 is a newly discovered radio galaxy, while IGR J18129-0649 is an AGN of a still unknown type. The nature of two sources (IGR J07225-3810 and IGR J19386-4653) is less well defined, since in both cases we find another X-ray source in the INTEGRAL error circle; nevertheless, the flat-spectrum radio source, likely to be a radio loud AGN, remains a viable and, in fact, a more convincing association in both cases. Only for the last object (IGR J11544-7618) could we not find any convincing counterpart since the radio association is not an X-ray emitter, while the only X-ray source seen in the field is a G star and therefore unlikely to produce the persistent emission seen by INTEGRAL.
Choroid plexus adenoma in a child: expanding the clinical and pathological spectrum.
Prendergast, Nicole; Goldstein, Jeffrey D; Beier, Alexandra D
2018-04-01
Primary choroid plexus tumors encompass a variety of tumors, with choroid plexus papilloma and carcinoma being the most common. Also in the differential diagnosis is the rare benign choroid plexus adenoma. As these tumors are infrequently described, the histological profile continues to evolve. The authors present a case with unusual characteristics that will broaden the pathological spectrum for choroid plexus adenomas.
Osteoid producing primary lesion at morphologic and biologic interface.
Sarkar, Reena Radhikaprasad
2015-01-01
Fibroosseous gnathic lesions comprise a wide spectrum of diseases. Many of the entities have overlapping features. A pediatric case is encountered with a complex clinicopathologic profile. Although radiographically the lesion appears benign but on histopathological examination it possesses features of osteoid producing aggressive neoplasm. This paper highlights the unusual histologic features existing within the spectrum of fibroosseous lesions and discusses relevant clinicopathologic correlations.
ERIC Educational Resources Information Center
Chezan, Laura C.; Gable, Robert A.; McWhorter, Gabriela Z.; White, Sherita D.
2017-01-01
Our purpose in this systematic review was to identify, evaluate, and summarize the single-case research design studies examining behavioral interventions to address self-injurious behavior for young children with autism spectrum disorder. We identified 24 studies published between 2000 and 2016 that met the inclusion criteria. We reviewed and…
ERIC Educational Resources Information Center
Buhler, Eva; Bachmann, Christian; Goyert, Hannah; Heinzel-Gutenbrunner, Monika; Kamp-Becker, Inge
2011-01-01
Autism spectrum disorders (ASD) and attention deficit hyperactivity disorders (ADHD) are both associated with deficits in executive control and with problems in social contexts. This study analyses the variables inhibitory control and theory of mind (ToM), including a developmental aspect in the case of the latter, to differentiate between the…
ERIC Educational Resources Information Center
McPhilemy, Catherine; Dillenburger, Karola
2013-01-01
Applied behaviour analysis (ABA)-based programmes are endorsed as the gold standard for treatment of children with autistic spectrum disorder (ASD) in most of North America. This is not the case in most of Europe, where instead a non-specified "eclectic" approach is adopted. We explored the social validity of ABA-based interventions with…
ERIC Educational Resources Information Center
Matson, Johnny L.; Lo Vullo, Santino V.
2008-01-01
Autism spectrum disorders (ASD) are considered to be among the most serious of the mental health conditions. Concomitant with many cases of ASD is intellectual disability. Further compounding the disability is the fact that both conditions are known risk factors for self-injurious behavior (SIB). To date, the most effective intervention methods,…
Radiation from High Temperature Plasmas.
1980-09-09
the silicon radiation, both lines and continuum, photoionizes and photoexcites bound levels of the aluminum plasma. This raises the state of...experimental broadening, a program was established to catalog all the spectra calculated theoretically and convolute them with Gaussian broadening... theoretical " spectrum into an observed spectrum as the experimental broadening increases. This evolution is seen in the next section for the case of an
Unguioblastoma and unguioblastic fibroma--an expanded spectrum of onychomatricoma.
Ko, Christine J; Shi, Linda; Barr, Ronald J; Mölne, Lena; Ternesten-Bratel, Annika; Headington, John T
2004-04-01
Onychomatricoma is a rare tumor that appears to originate from cells of the nail matrix. Three cases of onychomatricoma that met Perrin et al.'s1 histologic criteria of onychomatricoma are described. However, using a single term to classify all three tumors ignores the apparent microscopic differences that exist among them. To demonstrate better the spectrum of so-called onychomatricoma and properly acknowledge the noticeable disparity among our cases, a series of terms is proposed. This terminology is based on the histologic spectrum of epithelial-stromal ratio of stromal cellularity and of extent nuclear pleomorphism. Use of such criteria has a precedent in the classification of follicular and odontogenic fibroepithelial neoplasms. This new nomenclature includes "unguioblastoma" for tumors with a predominant epithelial component and "unguioblastic fibroma" for tumors where a cellular stroma is more prominent and characteristic. The term "atypical unguioblastic fibroma" is used to describe a third rare neoplasm, in which the cellular stroma shows nuclear pleomorphism and atypia with an increase of mitotic activity.
Probabilistic Models for Solar Particle Events
NASA Technical Reports Server (NTRS)
Adams, James H., Jr.; Dietrich, W. F.; Xapsos, M. A.; Welton, A. M.
2009-01-01
Probabilistic Models of Solar Particle Events (SPEs) are used in space mission design studies to provide a description of the worst-case radiation environment that the mission must be designed to tolerate.The models determine the worst-case environment using a description of the mission and a user-specified confidence level that the provided environment will not be exceeded. This poster will focus on completing the existing suite of models by developing models for peak flux and event-integrated fluence elemental spectra for the Z>2 elements. It will also discuss methods to take into account uncertainties in the data base and the uncertainties resulting from the limited number of solar particle events in the database. These new probabilistic models are based on an extensive survey of SPE measurements of peak and event-integrated elemental differential energy spectra. Attempts are made to fit the measured spectra with eight different published models. The model giving the best fit to each spectrum is chosen and used to represent that spectrum for any energy in the energy range covered by the measurements. The set of all such spectral representations for each element is then used to determine the worst case spectrum as a function of confidence level. The spectral representation that best fits these worst case spectra is found and its dependence on confidence level is parameterized. This procedure creates probabilistic models for the peak and event-integrated spectra.
McKenzie, Karen; Forsyth, Kirsty; O'Hare, Anne; McClure, Iain; Rutherford, Marion; Murray, Aja; Irvine, Linda
2016-05-01
The aim of this study was to explore the extent to which the Scottish Intercollegiate Guidelines Network 98 guidelines on the assessment and diagnosis of autism spectrum disorder were adhered to in child autism spectrum disorder diagnostic services in Scotland and whether there was a significant relationship between routine practice which more closely reflected these recommendations (increased adherence) and increased waiting times. Retrospective, cross-sectional case note analysis was applied to data from 80 case notes. Adherence ranged from a possible 0 (no adherence) to 19 (full adherence). Overall, 17/22 of the recommendations were adhered to in over 50 of the 80 cases and in 70 or more cases for 11/22 of the recommendations, with a mean adherence score of 16 (standard deviation = 1.9). No significant correlation was found between adherence and total wait time for untransformed (r = 0.15, p = 0.32) or transformed data (r = 0.12, p = 0.20). The results indicated that the assessment and diagnostic practices were consistent with the relevant Scottish Intercollegiate Guidelines Network 98 guideline recommendations. Increased adherence to the 19 included recommendations was not significantly related to increased total waiting times, indicating that the Scottish Intercollegiate Guidelines Network 98 recommendations have generally been integrated into practice, without a resultant increase in patient waits. © The Author(s) 2015.
A Case Study on Autism: School Accommodations and Inclusive Settings
ERIC Educational Resources Information Center
Coffey, Kenneth M.; Obringer, S. John
2004-01-01
Semi-structured interviews were conducted with a mother and father raising their two children with autism. This single case study revealed the supports involved in educating and socializing school-aged children with autism spectrum disorder. The case study indicated that the parents agreed on a majority of issues and clearly pointed out that their…
Sullivan, Jillian C; Miller, Lucy J; Nielsen, Darcy M; Schoen, Sarah A
2014-08-01
Migraine headaches are associated with sensory hyperreactivity and anxiety in the general population, but it is unknown whether this is also the case in autism spectrum disorders. This pilot study asked parents of 81 children (aged 7-17 years) with autism spectrum disorders to report their child's migraine occurrence, sensory hyperreactivity (Sensory Over-Responsivity Inventory), and anxiety symptoms (Spence Child Anxiety Scale). Children with autism spectrum disorders who experienced migraine headaches showed greater sensory hyperreactivity and anxiety symptomatology (p < 0.01; medium effect size for both) than those without migraines. Sensory hyperreactivity and anxiety symptomatology were additionally correlated (ρ = 0.31, p = 0.005). This study provides preliminary evidence for a link between migraine headaches, sensory hyperreactivity, and anxiety symptomatology in autism spectrum disorders, which may suggest strategies for subtyping and exploring a common pathogenesis. © The Author(s) 2013.
Dell'Osso, Liliana; Conversano, Ciro; Bertelloni, Carlo A.; Cremone, Ivan M.; Carpita, Barbara; Gesi, Camilla
2018-01-01
This case report draws attention to the potential relevance of undetected autism spectrum symptoms in a bipolar patient with high work functioning showing a peculiar addictive profile with impulsive and antisocial behaviors. A 23-year-old man with a diagnosis of Bipolar Disorder (BD) and Substance Use Disorder (SUD) was hospitalized at the Psychiatric Clinic of the University of Pisa for diuretics and β-2 adrenergic agonist abuse in a remission phase of benzodiazepines and substance abuse. He reported a history of behavioral addictions in the framework of a global high work functioning with particular skills in computer science. When assessed for adult autism spectrum symptoms, despite not fulfilling a DSM-5 diagnosis of Autism Spectrum Disorder (ASD), he reported a score of 93/240 at the Ritvo Autism and Asperger Diagnostic Scale (RAADS-r) and of 88/160 at the Adult Autism Subthreshold Spectrum (AdAS Spectrum), both indicative of ASD. We argue the possible role of adult subthreshold autism spectrum features, generally disregarded in adult psychiatry, in the peculiar addictive profile developed by this patient with BD that may deserve appropriate treatment. PMID:29682383
Primary Intracranial Myoepithelial Neoplasm: A Potential Mimic of Meningioma.
Choy, Bonnie; Pytel, Peter
2016-05-01
Myoepithelial neoplasms were originally described in the salivary glands but their spectrum has been expanding with reports in other locations, including soft tissue. Intracranial cases are exceptionally rare outside the sellar region where they are assumed to be arising from Rathke pouch rests. Two cases of pediatric intracranial myoepithelial neoplasm in the interhemispheric fissure and the right cerebral hemisphere are reported here. Imaging studies suggest that the second case was associated with cerebrospinal fluid dissemination. Both cases showed typical variation in morphology and immunophenotype between more epithelioid and more mesenchymal features. The differential diagnosis at this particular anatomic location includes meningioma, which can show some overlap in immunophenotype since both tumors express EMA as well as GLUT1. One case was positive for EWSR1 rearrangement by fluorescence in situ hybridization. One patient is disease free at last follow-up while the other succumbed to the disease within days illustrating the clinical spectrum of these tumors. © The Author(s) 2015.
A case of Michelin tire baby syndrome with a thickened epiglottis.
Samarin, Frank M; Baum, Eric D; Antaya, Richard J
2010-01-01
Multiple circumferential skin folds have been reported as part of the Michelin tire baby syndrome (MTBS). There has been a wide spectrum of associated clinical findings reported in children with MTBS. We report a case of MTBS associated with a thickened epiglottis.
Using Animal Assisted Therapy with Students with Autism Spectrum Disorder in the Art Room Setting
ERIC Educational Resources Information Center
Rosenburg, Karen L.
2016-01-01
This case study focused on the addition of a therapy dog in an Art I level class at a public high school level that included students with Autism Spectrum Disorder. The purpose of this study is to determine how Animal Assisted Therapy may benefit autism support students in the art classroom. The students participated in lessons that focused on…
ERIC Educational Resources Information Center
McCloskey, Erin
2016-01-01
This case study uses an institutional ethnography approach to investigate the experiences of the parents of a son who has autism spectrum disorder (ASD) as they engaged in meetings related to his progress and placement with school personnel over the course of one school year. Through an analysis of the discourse used in these meetings and…
Haduch-Sendecka, Aleksandra; Pietruszka, Mariusz; Zajdel, Paweł
2014-08-01
We report on our results concerning growth rate and oscillation modes of the individual pollen tube apex. The observed volumetric growth and growth rate periodicity in the longitudinal (axial) direction are accompanied by transverse oscillations with similar frequencies but higher energies than the axial modes. Examination of the time-domain coherence between oscillations in mutually perpendicular directions revealed minimal energy dissipation in the unperturbed (isotonic) case, opposite to the two remaining cases (hypertonic, hypotonic) with notable correlations. We conjecture that the minimal energy loss is therefore optimal in the natural growth conditions. The longitudinal growth velocity is also found to be the fastest in the unperturbed case. As a result, the isolated system (pollen tube tip) is conserving energy by transforming it from elastic potential energy of extending apical wall to the kinetic energy of periodical motion. The energy dissipation is found to be about 20 % smaller in axial direction than in lateral one, indicating that the main energy consumption is dedicated to the elongation. We further observe that the hypertonic spectrum is shifted towards lower and the hypotonic towards higher frequencies with respect to the isotonic spectrum. In consequence, the turgor pressure inside the growing cell influences monotonically the frequency of both modes of oscillations. The calculated power spectrum seen as a measure of the overall energy efficiency of tip growth under hypertonic, hypotonic and isotonic conditions implies that the biochemistry has been fine tuned to be optimal under normal growth conditions, which is the developmental implication of this work. A simple theoretical extension of the Ortega equation is derived and analysed with respect to its contribution to power spectrum. We show that the plastic term, related to the effective turgor pressure, with maximum contribution at frequency f = 0 is responsible for the steady growth. In turn, the elastic contribution dependent on the time derivative of pressure fluctuations tends to move the system into oscillatory mode (f > 0). None of those mechanisms is privileged over another. The coupling mechanism is naturally generated through a convolution of those two terms and will decide about the overall character of the growth for each particular case.
Volkman, Thomas; Hemingway, Cheryl
2017-11-01
Neuromyelitis optica (NMO) and NMO spectrum disorder (NMOSD) is a rare relapsing autoimmune disease of the central nervous system constituting less than 1% of demyelinating diseases (Jeffery and Buncic, 1996). It preferentially affects the optic nerves and spinal cord, with the brain parenchyma generally spared. Demyelinating lesions are characterised by longitudinally extensive transverse myelitis (LETM) and often longitudinally extensive optic neuritis. Following the discovery of a novel pathogenic antibody, Aquaporin 4 in 2004 (Lennon et al., 2004) this disease has been seen as a separate entity from Multiple Sclerosis (MS). We report the case of a severe AQP4 IgG case of NMO in a 10 year old child. This case unusually had a coexisting diagnosis of acute nephrotic syndrome which has only been reported once previously in the literature 2 . This article will examine some of the treatment challenges and the spectrum of co-existing autoimmune disease in NMOSD. Copyright © 2017. Published by Elsevier B.V.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Philip, Asher; Gupta, Sanjay, E-mail: sgupta@mdanderson.org; Ahrar, Kamran, E-mail: kahrar@mdanderson.org
2013-10-15
Thermal ablation is an accepted alternative for the palliation of pain from bone metastases. Although rare, neurologic complications after thermal ablation have been reported. We present four cases, including two cases of rapid reversal of postcryoablation neurapraxia after the administration of steroid therapy, and review the literature.
A study of how the particle spectra of SU(N) gauge theories with a fundamental Higgs emerge
NASA Astrophysics Data System (ADS)
Törek, Pascal; Maas, Axel; Sondenheimer, René
2018-03-01
In gauge theories, the physical, experimentally observable spectrum consists only of gauge-invariant states. In the standard model the Fröhlich-Morchio-Strocchi mechanism shows that these states can be adequately mapped to the gauge-dependent elementary W, Z, Higgs, and fermions. In theories with a more general gauge group and Higgs sector, appearing in various extensions of the standard model, this has not to be the case. In this work we determine analytically the physical spectrum of SU(N > 2) gauge theories with a Higgs field in the fundamental representation. We show that discrepancies between the spectrum predicted by perturbation theory and the observable physical spectrum arise. We confirm these analytic findings with lattice simulations for N = 3.
Autistic spectrum disorder, epilepsy, and vagus nerve stimulation.
Hull, Mariam Mettry; Madhavan, Deepak; Zaroff, Charles M
2015-08-01
In individuals with a comorbid autistic spectrum disorder and medically refractory epilepsy, vagus nerve stimulation may offer the potential of seizure control and a positive behavioral side effect profile. We aimed to examine the behavioral side effect profile using longitudinal and quantitative data and review the potential mechanisms behind behavioral changes. We present a case report of a 10-year-old boy with autistic spectrum disorder and epilepsy, who underwent vagus nerve stimulation subsequent to unsuccessful treatment with antiepileptic medication. Following vagus nerve stimulation implantation, initial, if temporary, improvement was observed in seizure control. Modest improvements were also observed in behavior and development, improvements which were observed independent of seizure control. Vagus nerve stimulation in autistic spectrum disorder is associated with modest behavioral improvement, with unidentified etiology, although several candidates for this improvement are evident.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Zhong, J. Y.; Zhang, K.; Yuan, D. W.
2016-08-01
Laboratory experiments have been carried out to model the magnetic reconnection process in a solar flare with powerful lasers. Relativistic electrons with energy up to megaelectronvolts are detected along the magnetic separatrices bounding the reconnection outflow, which exhibit a kappa-like distribution with an effective temperature of ∼10{sup 9} K. The acceleration of non-thermal electrons is found to be more efficient in the case with a guide magnetic field (a component of a magnetic field along the reconnection-induced electric field) than in the case without a guide field. Hardening of the spectrum at energies ≥500 keV is observed in both cases, which remarkably resembles themore » hardening of hard X-ray and γ -ray spectra observed in many solar flares. This supports a recent proposal that the hardening in the hard X-ray and γ -ray emissions of solar flares is due to a hardening of the source-electron spectrum. We also performed numerical simulations that help examine behaviors of electrons in the reconnection process with the electromagnetic field configurations occurring in the experiments. The trajectories of non-thermal electrons observed in the experiments were well duplicated in the simulations. Our numerical simulations generally reproduce the electron energy spectrum as well, except for the hardening of the electron spectrum. This suggests that other mechanisms such as shock or turbulence may play an important role in the production of the observed energetic electrons.« less
Electroacupuncture for children with autism spectrum disorder: pilot study of 2 cases.
Chen, Wen-Xiong; Wu-Li, Liu; Wong, Virginia C N
2008-10-01
The objective of this study was to observe for efficacy, safety, and compliance of electroacupuncture for autism spectrum disorder (ASD). Two (2) children with ASD received electroacupuncture for 24 sessions over 8 weeks and were assessed pre- and postacupuncture. We defined a positive or negative change as an improvement or deterioration of 25%, respectively, in total score or any subscales of Aberrant Behavioral Checklist (ABC), Ritvo-Freeman Real Life Scale (RFRLS), WeeFIM, and as a rating of much improved or much worse on the Clinical Global Impression-Improvement (CGI-I) scale. For ABC, positive changes in "Irritability" and "Stereotypy" was noted in case 1 but no changes occurred for case 2. For RFRLS, positive changes were found for both cases in "Sensory motor," "Sensory response," and "Total score," although negative change was noted for case 2 in "Affectual response." For WeeFIM, there were no positive or negative changes in both cases. For CGI-I, positive change in case 1 with much improved in "Social relatedness, Communication, and Stereotypy behavior" was reported. A short intensive course of electroacupuncture might improve some core features of children with ASD.
The Solar Spectrum: An Atmospheric Remote Sensing Perspective
NASA Technical Reports Server (NTRS)
Toon, Geoff
2013-01-01
The solar spectrum not only contains information about the composition and structure of the sun, it also provides a bright and stable continuum source for earth remote sensing (atmosphere and surface). Many types of remote sensors use solar radiation. While high-resolution spaceborne sensors (e.g. ACE) can largely remove the effects of the solar spectrum by exo-atmospheric calibration, this isn't an option for sub-orbital sensors, such as the FTIR spectrometers used in the NDACC and TCCON networks. In this case the solar contribution must be explicitly included in the spectral analysis. In this talk the methods used to derive the solar spectrum are presented, and the underlying solar physics are discussed. Implication for remote sensing are described.
On the Effective Mass of the Electron Neutrino in Beta Decay
DOE Office of Scientific and Technical Information (OSTI.GOV)
Farzan, Yasaman
2002-12-20
In the presence of mixing between massive neutrino states, the distortion of the electron spectrum in beta decay is, in general, a function of several masses and mixing angles. For 3{nu}-schemes which describe the solar and atmospheric neutrino data, this distortion can be described by a single effective mass, under certain conditions. In the literature, two different definitions for the effective mass have been suggested. We show that for quasi-degenerate mass schemes (with an overall mass scale m and splitting {Delta}m{sup 2}) the two definitions coincide up to ({Delta}m{sup 2}){sup 2}/m{sup 4} corrections. We consider the impact of different effectivemore » masses on the integral energy spectrum. We show that the spectrum with a single mass can be used also to fit the data in the case of 4{nu}-schemes motivated, in particular, by the LSND results. In this case the accuracy of the mass determination turns out to be better than (10-15)%.« less
Hadron spectrum in quenched lattice QCD and distribution of zero modes
NASA Astrophysics Data System (ADS)
Iwasaki, Yoichi
1989-06-01
I report the results of the calculation of the hadron spectrum with the standard one-plaquette gauge action on a 16★★3★48 lattice at β=5.85 in the quenched lattice QCD. The result remarkably agrees with that of quark potential models for the case where the quark mass is equal to or is larger than the strange quark mass, even when one uses the standard one-plaquette gauge action. This is contrary to what is stated in the literature. We clarify the reason of the discrepancy, paying close attention to systematic errors in numerical calculations. Further, I show the distribution of zero modes of quark matrix, both in the cases of a RG improved gauge action and the standard action, and discuss the difference between the two cases.
The Torsional Spectrum of Doubly Deuterated Methanol CHD_2OH
NASA Astrophysics Data System (ADS)
Ndao, M.; Coudert, L. H.; Kwabia Tchana, F.; Barros, J.; Margulès, L.; Manceron, Laurent; Roy, P.
2014-06-01
Although the torsional spectrum of several isotopic species of methanol with a symmetrical CH_3 or CD_3 was analyzed some time ago, it is recently, and only for the monodeuterated species CH_2DOH, that such an analysis was extended to the case of an asymmetrical methyl group. In this talk, based on a Fourier transform high-resolution spectrum recorded in the 20 to 670 wn region, the first analysis of the torsional spectrum of doubly deuterated methanol CHD_2OH will be presented. The Q branch of many torsional subbands could be observed and their assignment was initiated using a theoretical torsion-rotation spectrum computed with an approach accounting for the torsion-rotation Coriolis coupling and for the dependence of the generalized inertia tensor on the angle of internal rotation. 46 torsional subbands were thus assigned. For 28 of them, their rotational structure could be assigned and fitted using an effective Hamiltonian expressed as a J(J+1) expansion; and for 2 of them microwave transitions within the lower torsional level could also be included in the analysis. In several cases these analysis revealed that the torsional levels are strongly perturbed. In the talk, the torsional parameters retrieved in the analysis of the torsional subband centers will be discussed. The results of the analysis of the rotational structure of the torsional subbands will be presented and we will also try to understand the nature of the perturbations. At last, preliminary results about the analysis of the microwave spectrum will be presented. El Hilali, Coudert, Konov, and Klee, J. Chem. Phys. 135 (2011) 194309 Lauvergnat, Coudert, Klee, and Smirnov, J. Mol. Spectrosc. 256 (2009) 204 Quade, Liu, Mukhopadhyay, and Su, J. Mol. Spectrosc. 192 (1998) 378 Pearson, Yu, and Drouin, J. Mol. Spectrosc. 280 (2012) 119
ERIC Educational Resources Information Center
Cosbey, Joanna; Muldoon, Deirdre
2017-01-01
This study evaluated the effectiveness of a family-centered feeding intervention, Easing Anxiety Together with Understanding and Perseverance (EAT-UP™), for promoting food acceptance of children with autism spectrum disorder at home. A concurrent multiple-baseline design was used with systematic replication across three families. Baseline was…
ERIC Educational Resources Information Center
Soke, Gnakub N.; Rosenberg, Steven A.; Hamman, Richard F.; Fingerlin, Tasha; Robinson, Cordelia; Carpenter, Laura; Giarelli, Ellen; Lee, Li-Ching; Wiggins, Lisa D.; Durkin, Maureen S.; DiGuiseppi, Carolyn
2016-01-01
Self-injurious behaviors (SIB) have been reported in more than 30% of children with an autism spectrum disorder (ASD) in clinic-based studies. This study estimated the prevalence of SIB in a large population-based sample of children with ASD in the United States. A total of 8,065 children who met the surveillance case definition for ASD in the…
ERIC Educational Resources Information Center
Epp, Kathleen Marie
2008-01-01
There is a paucity of literature on social skills therapy for students on the autism spectrum, revealing an urgent need for additional research. Past research has focused on the use of small groups or single-case study designs. The present study examines the effectiveness of a social skills therapy program for school-age children ages 11 through…
Tabatadze, T; Zhorzholiani, L; Kherkheulidze, M; Kandelaki, E; Ivanashvili, T
2015-11-01
Our study aims evaluation of level of essential trace elements and heavy metals in the hair samples of children with autistic spectrum disorder (ASD) and identification of changes that are associated with autistic spectrum disorders. Case-control study was conducted at Child Development Center of Iashvili Children's Central Hospital (LD).We studied 60 children aged from 4 to 5 years old. The concentrations of 28 elements among (Ca,Zn, K, Fe, Cu, Se, Mn, Cr, S, Br, Cl, Co, Ag, V, Ni, Rb, Mo, Sr, Ti, Ba, Pb, As, Hg, Cd, Sb, Zr, Sn, Bi) them trace elements and toxic metals) were determined in scalp hair samples of children (n=30) with autistic spectrum disorder (ASD) and from control group of healthy children (n=30) with matched sex and age. Micro-elemental status was detected in the hair, with roentgen-fluorescence spectrometer method (Method MBИ 081/12-4502-000, Apparatus ALVAX- CIP, USA - UKRAIN) .To achieve the similarity of study and control groups, pre and postnatal as well as family and social history were assessed and similar groups were selected. Children with genetic problems, malnourished children, children from families with social problems were excluded from the study. The diagnosis of ASD were performed by pediatrician and psychologist (using M-CHAT and ADOS) according to DSM IV (Diagnostic and Statistical Manual of Mental Disorders from the American Psychiatric association) criteria. The study was statistically analyzed using computer program SPSS 19. Deficiencies of essential trace microelements revealed in both group, but there was significant difference between control and studied groups. The most deficient element was zinc (92% in target and 20% in control), then - manganese (55% and 8%) and selenium (38% and 4%). In case of cooper study revealed excess concentration of this element only in target group in 50% of cases. The contaminations to heavy metals were detected in case of lead (78% and 16), mercury (43% and 10%) and cadmium (38% and 8%). The study statistical results indicated, that deficient concentrations of trace elements such as zinc, manganese, molybdenum and selenium in hair significantly linked with ASD (Kramer's V was 0,740; 0,537; 0,333; 0,417 accordingly). In case of cooper we got excess levels of this element and this data was highly linked with autism spectrum disorder. We got high associations and significant values between of lead, mercury and cadmium concentrations and ASD. Study results indicate that there are significant differences of hair essential trace elements concentrations in children with autism spectrum disorder comparing with healthy children group. The result obtained also showed high contamination to heavy metals such as lead, mercury and cadmium in ASD children compared to healthy ones. So, our study demonstrated alteration in levels of toxic heavy metals and essential trace elements in children with autistic spectrum disorders as compared to healthy children. This suggests a possible pathophysiological role of heavy metals and trace elements in the genesis of symptoms of autism spectrum disorders.
Jolliffe, Evan A; Keegan, B Mark; Flanagan, Eoin P
2018-04-21
Longitudinally-extensive T2-hyperintense spinal cord lesions (≥3 vertebral segments) are associated with neuromyelitis optical spectrum disorder but occur with other disorders including spinal cord sarcoidosis. When linear dorsal subpial enhancement is accompanied by central cord/canal enhancement the axial post-gadolinium sequences may reveal a "trident" pattern that has previously been shown to be strongly suggestive of spinal cord sarcoidosis. We report a case in which the patient was initially diagnosed with neuromyelitis optical spectrum disorder, but where the "trident" sign ultimately led to the correct diagnosis of spinal cord sarcoidosis. Copyright © 2018. Published by Elsevier B.V.
Asato, Yuko; Kamitani, Toshiaki; Ootsuka, Kuniyuki; Kuramochi, Mizuki; Nakanishi, Kozo; Shimada, Tetsuya; Takahashi, Toshiyuki; Misu, Tatsuro; Aoki, Masashi; Fujihara, Kazuo; Kawabata, Yoshinori
2018-05-18
We herein report the case of a 76-year old man with aquaporin-4-Immunoglobulin-G (AQP4-IgG)-positive neuromyelitis optica spectrum disorder (NMOSD), in whom transient interstitial pulmonary lesions developed at the early stage of the disease. Chest X-ray showed multiple infiltrative shadows in both upper lung fields, and computed tomography revealed abnormal shadows distributed randomly in the lungs. Surgical lung biopsy showed features of unclassifiable interstitial pneumonia, characterized by various types of air-space organization, which resulted in obscure lung structure. This is the first report to describe the pathological findings of interstitial pneumonia, which may represent a rare extra-central nervous system complication of NMOSD.
Spatial Relative Risk Patterns of Autism Spectrum Disorders in Utah
ERIC Educational Resources Information Center
Bakian, Amanda V.; Bilder, Deborah A.; Coon, Hilary; McMahon, William M.
2015-01-01
Heightened areas of spatial relative risk for autism spectrum disorders (ASD), or ASD hotspots, in Utah were identified using adaptive kernel density functions. Children ages four, six, and eight with ASD from multiple birth cohorts were identified by the Utah Registry of Autism and Developmental Disabilities. Each ASD case was gender-matched to…
Parental Action and Referral Patterns in Spatial Clusters of Childhood Autism Spectrum Disorder
ERIC Educational Resources Information Center
Schelly, David; Jiménez González, Patricia; Solís, Pedro J.
2018-01-01
Sociodemographic factors have long been associated with disparities in autism spectrum disorder (ASD) diagnosis. Studies that identified spatial clustering of cases have suggested the importance of information about ASD moving through social networks of parents. Yet there is no direct evidence of this mechanism. This study explores the…
Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series
ERIC Educational Resources Information Center
Hogan, Abigail L.; Caravella, Kelly E.; Ezell, Jordan; Rague, Lisa; Hills, Kimberly; Roberts, Jane E.
2017-01-01
No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not.…
Federal Research and Development Funding: FY2011
2010-03-10
malignancies, and will undertake complete genome sequencing and analysis of 300 autism spectrum disorder cases. In support of the National...Phase 1-3 clinical trials by 2016. NIH’s HIV/AIDS research portfolio, covering the spectrum from basic viral research to vaccine development trials...across all the states. A White House press release highlighted examples of research in cancer, heart disease, and autism , particularly over $1 billion
Federal Research and Development Funding: FY2011
2010-07-27
malignancies, and will undertake complete genome sequencing and analysis of 300 autism spectrum disorder cases. In support of the National...Phase 1-3 clinical trials by 2016. NIH’s HIV/AIDS research portfolio, covering the spectrum from basic viral research to vaccine development trials...across all the states. A White House press release highlighted examples of research in cancer, heart disease, and autism , particularly over $1 billion in
Effect of non-Poisson samples on turbulence spectra from laser velocimetry
DOE Office of Scientific and Technical Information (OSTI.GOV)
Sree, D.; Kjelgaard, S.O.; Sellers, W.L. III
1994-12-01
Spectral estimations from LV data are typically based on the assumption of a Poisson sampling process. It is demonstrated here that the sampling distribution must be considered before spectral estimates are used to infer turbulence scales. A non-Poisson sampling process can occur if there is nonhomogeneous distribution of particles in the flow. Based on the study of a simulated first-order spectrum, it has been shown that a non-Poisson sampling process causes the estimated spectrum to deviate from the true spectrum. Also, in this case the prefiltering techniques do not improve the spectral estimates at higher frequencies. 4 refs.
Blake, Jerome; Hoyme, H Eugene; Crotwell, Patricia L
2013-01-01
Autism spectrum disorders (ASD) represent a common spectrum of developmental disabilities, sharing deficits in social interactions, communication and restricted interests or repetitive behaviors with difficult transitions. In this article, we review the history of the identification and classification of autism and the origin of the now widely-debunked autism/vaccine hypothesis. The differences between syndromal (complex) and non-syndromal (essential) autism are described and illustrated with case descriptions where appropriate. Finally, the evidence that autism is fundamentally a genetic disease is discussed, including family studies, the role of DNA copy number variation and known single gene mutations.
Arnold, Anthony C.; Costa, Roberta M. S.; Dumitrascu, Oana M.
2013-01-01
Purpose: To identify the spectrum of clinical and fluorescein angiographic features of optic disc ischemia in patients younger than 50 years. Methods: This retrospective comparative case series from a university consultative neuro-ophthalmology practice consisted of two phases. The first compared 108 cases of nonarteritic anterior ischemic optic neuropathy in patients younger than 50 years (NAIONy) to a cohort of 108 cases in patients 50 years or older (NAIONo). Predisposing risk factors, fluorescein angiographic features, and clinical course were compared. In the second phase, 12 cases of diabetic papillopathy under age 50 were assessed by fluorescein angiographic criteria for evidence of optic disc ischemia and compared to patients with NAIONy. Results: NAIONy comprised 108 (12.7%) of 848 NAION cases reviewed. Chronic renal failure with dialysis and migraine were more common in NAIONy. Fellow eye involvement rate was significantly higher for NAIONy patients (46/108, 42.6%) than for NAIONo patients (32/108, 29.6%). Fluorescein angiographic features of ischemia were documented in 44 (81.5%) of 54 eyes studied. In one case, these features were documented in pre-NAION edema. Diabetic papillopathy demonstrated delayed filling consistent with ischemia in 7 of 10 (70.0%), without significant visual field loss. Conclusions: Ischemic optic neuropathy in patients younger than 50 years is not rare. Fellow eye involvement is more frequent in younger patients. Fluorescein angiography confirmation of impaired perfusion in multiple syndromes of optic neuropathy corroborates a spectrum of optic disc ischemia ranging from perfusion delay without visual loss to severely impaired perfusion and visual loss and incorporates optic neuropathies previously considered nonischemic. PMID:24167327
Li, Hui; Haldane, F D M
2008-07-04
We study the "entanglement spectrum" (a presentation of the Schmidt decomposition analogous to a set of "energy levels") of a many-body state, and compare the Moore-Read model wave function for the nu=5/2 fractional quantum Hall state with a generic 5/2 state obtained by finite-size diagonalization of the second-Landau-level-projected Coulomb interactions. Their spectra share a common "gapless" structure, related to conformal field theory. In the model state, these are the only levels, while in the "generic" case, they are separated from the rest of the spectrum by a clear "entanglement gap", which appears to remain finite in the thermodynamic limit. We propose that the low-lying entanglement spectrum can be used as a "fingerprint" to identify topological order.
Is pulsar timing a hopeful tool for detection of relic gravitational waves by using GW150914 data?
NASA Astrophysics Data System (ADS)
Ghayour, Basem
2018-04-01
The inflation stage has a behaviour as power law expansion like S(η )∝ η ^{1+β } where β constrained on the 1+β <0. If the inflation were preceded by a radiation era, then there would be thermal spectrum of relic gravitational waves at the time of inflation. Based on this idea we find new upper bound on β by comparison the thermal spectrum with strain sensitivity of single pulsar timing. Also we show that sensitivity curve of single pulsar timing may be hopeful tool for detection of the spectrum in usual and thermal case by using the GW150914 data.
Parents as a Team: Mother, Father, a Child with Autism Spectrum Disorder, and a Spinning Toy
ERIC Educational Resources Information Center
Maynard, Douglas W.; McDonald, T. A.; Stickle, Trini
2016-01-01
This paper is a single case study involving a visit to a diagnostic clinic for autism spectrum disorder. A young boy finds a toy that he can hold with one hand and spin with another. In order to retrieve the toy and leave it in the clinic, the parents engage in a team effort. We describe this achievement in terms of two styles of practice or…
Experiences of Siblings of Individuals with Autism Spectrum Disorders
Angell, Maureen E.; Meadan, Hedda; Stoner, Julia B.
2012-01-01
The purpose of this study was to explore the experiences of siblings of individuals with autism spectrum disorders (ASDs) and identify their self-reported support needs. We conducted in-person semi-structured interviews with 12 siblings aged 7 to 15 of children aged 6 to 15 with ASDs. Employing a qualitative collective case study research method, we conducted cross-case analyses to address our research questions. Three major themes emerged: (a) descriptions of the sibling subsystem (b) cohesion between and among the siblings, and (c) adaptability of the participant siblings to having family members with ASDs. Discussion of these findings and recommendations for future research contributes to the existing literature on siblings of children with disabilities. PMID:22928104
Suri, Vaishali S; Tatke, Medha; Singh, Daljit; Sharma, Ajay
2004-01-01
Clinical and histological criteria for ependymoma prognosis are well recognized. Recently few studies have been done based on Immunohistochemistry for prognostication of these tumours. In this study we have correlated the histological spectrum with immmunoexpression of p53 and Ki67 in these tumors. To know the incidence of ependymomas; study their morphological spectrum and to evaluate expression of P53 and Ki 67 in different morphological subtypes. A retrospective study was preformed on 70 ependymomas received in a period between 1994 and 2001. Entire tissue received was processed for routine paraffin embedded H&E stained sections. Immunocytochemistry was performed using antibodies to GFAP, EMA, Pancytokeratin and synaptophysin, to differentiate papillary ependymoma from choroid plexus papilloma; clear cell ependymoma from oligodendroglioma and central neurocytoma; ependymoblastoma from other embryonal tumours. p53 and Ki-67 immunohistochemistry was performed to correlate their expression with various tumour grades and subtypes. There were 3 cases (4.2%) of Grade I ependymoma (2 cases of myxopapillary ependymoma and 1 case of subependymoma); 57 cases (81.5%) of ependymoma grade II (43 of these were of classical variety, 11 of clear cell ependymoma, 2 of papillary and 1 case of cellular ependymoma). There were 9 cases (12.8%) of anaplastic ependymoma (one of these was a clear cell ependymoma and 1 case (1.5%) of ependymoblastoma p53 and Ki67 indices can be used in routine diagnostic laboratories to supplement the tumor grade on histology and more studies with follow up should be performed to analyse the prognosis of different subtypes. The expression of Ki 67 and p53 was significantly higher in anaplastic ependymomas. 4 out of 11 cases of clear cell ependymomas showed higher Ki 67 indices as compared to classical grade II ependymomas, thus further highlighting the importance of differentiating the various subtypes.
Wallace, Gregory L; Happé, Francesca; Giedd, Jay N
2009-05-27
Neuropsychological functioning and brain morphometry in a savant (case GW) with an autism spectrum disorder (ASD) and both calendar calculation and artistic skills are quantified and compared with small groups of neurotypical controls. Good memory, mental calculation and visuospatial processing, as well as (implicit) knowledge of calendar structure and 'weak' central coherence characterized the cognitive profile of case GW. Possibly reflecting his savant skills, the superior parietal region of GW's cortex was the only area thicker (while areas such as the superior and medial prefrontal, middle temporal and motor cortices were thinner) than that of a neurotypical control group. Taken from the perspective of learning/practice-based models, skills in domains (e.g. calendars, art, music) that capitalize upon strengths often associated with ASD, such as detail-focused processing, are probably further enhanced through over-learning and massive exposure, and reflected in atypical brain structure.
Wallace, Gregory L.; Happé, Francesca; Giedd, Jay N.
2009-01-01
Neuropsychological functioning and brain morphometry in a savant (case GW) with an autism spectrum disorder (ASD) and both calendar calculation and artistic skills are quantified and compared with small groups of neurotypical controls. Good memory, mental calculation and visuospatial processing, as well as (implicit) knowledge of calendar structure and ‘weak’ central coherence characterized the cognitive profile of case GW. Possibly reflecting his savant skills, the superior parietal region of GW's cortex was the only area thicker (while areas such as the superior and medial prefrontal, middle temporal and motor cortices were thinner) than that of a neurotypical control group. Taken from the perspective of learning/practice-based models, skills in domains (e.g. calendars, art, music) that capitalize upon strengths often associated with ASD, such as detail-focused processing, are probably further enhanced through over-learning and massive exposure, and reflected in atypical brain structure. PMID:19528026
Absolute instabilities of travelling wave solutions in a Keller-Segel model
NASA Astrophysics Data System (ADS)
Davis, P. N.; van Heijster, P.; Marangell, R.
2017-11-01
We investigate the spectral stability of travelling wave solutions in a Keller-Segel model of bacterial chemotaxis with a logarithmic chemosensitivity function and a constant, sublinear, and linear consumption rate. Linearising around the travelling wave solutions, we locate the essential and absolute spectrum of the associated linear operators and find that all travelling wave solutions have parts of the essential spectrum in the right half plane. However, we show that in the case of constant or sublinear consumption there exists a range of parameters such that the absolute spectrum is contained in the open left half plane and the essential spectrum can thus be weighted into the open left half plane. For the constant and sublinear consumption rate models we also determine critical parameter values for which the absolute spectrum crosses into the right half plane, indicating the onset of an absolute instability of the travelling wave solution. We observe that this crossing always occurs off of the real axis.
Monte Carlo Simulations of the Photospheric Emission in Gamma-Ray Bursts
NASA Astrophysics Data System (ADS)
Bégué, D.; Siutsou, I. A.; Vereshchagin, G. V.
2013-04-01
We studied the decoupling of photons from ultra-relativistic spherically symmetric outflows expanding with constant velocity by means of Monte Carlo simulations. For outflows with finite widths we confirm the existence of two regimes: photon-thick and photon-thin, introduced recently by Ruffini et al. (RSV). The probability density function of the last scattering of photons is shown to be very different in these two cases. We also obtained spectra as well as light curves. In the photon-thick case, the time-integrated spectrum is much broader than the Planck function and its shape is well described by the fuzzy photosphere approximation introduced by RSV. In the photon-thin case, we confirm the crucial role of photon diffusion, hence the probability density of decoupling has a maximum near the diffusion radius well below the photosphere. The time-integrated spectrum of the photon-thin case has a Band shape that is produced when the outflow is optically thick and its peak is formed at the diffusion radius.
MONTE CARLO SIMULATIONS OF THE PHOTOSPHERIC EMISSION IN GAMMA-RAY BURSTS
DOE Office of Scientific and Technical Information (OSTI.GOV)
Begue, D.; Siutsou, I. A.; Vereshchagin, G. V.
2013-04-20
We studied the decoupling of photons from ultra-relativistic spherically symmetric outflows expanding with constant velocity by means of Monte Carlo simulations. For outflows with finite widths we confirm the existence of two regimes: photon-thick and photon-thin, introduced recently by Ruffini et al. (RSV). The probability density function of the last scattering of photons is shown to be very different in these two cases. We also obtained spectra as well as light curves. In the photon-thick case, the time-integrated spectrum is much broader than the Planck function and its shape is well described by the fuzzy photosphere approximation introduced by RSV.more » In the photon-thin case, we confirm the crucial role of photon diffusion, hence the probability density of decoupling has a maximum near the diffusion radius well below the photosphere. The time-integrated spectrum of the photon-thin case has a Band shape that is produced when the outflow is optically thick and its peak is formed at the diffusion radius.« less
Foetal Alcohol Spectrum Disorders: A consideration of sentencing and unreliable confessions.
Douglas, Heather
2015-12-01
While Foetal Alcohol Spectrum Disorders (FASDs) are now a strong focus of policy-makers throughout Australia, they have received strikingly little consideration in Australian criminal courts. Many people who have an FASD are highly suggestible, have difficulty linking their actions to consequences, controlling impulses and remembering things, and thus FASD raises particular issues for appropriate sentencing and the admissibility of evidence. This article considers the approach of Australian criminal courts to FASD. It reviews the recent case of AH v Western Australia which exemplifies the difficulties associated with appropriate sentencing in cases where the accused is likely to have an FASD. The article also considers the implications for Australian courts of the New Zealand case of Pora v The Queen, recently heard by the Privy Council. In this case, the Privy Council accepted expert evidence that people with FASD may confabulate evidence, potentially making their testimony unreliable. The article concludes with an overview of developments in criminal policy and legal response in relation to FASD in the United States, Canada and Australia.
NASA Astrophysics Data System (ADS)
Nithyanandan, K.; Vasantha Jayakantha Raja, R.; Porsezian, K.; Uthayakumar, T.
2013-08-01
We investigate the modulational instability induced supercontinuum generation (MI-SCG) under versatile saturable nonlinear (SNL) responses. We identify and discuss the salient features of saturable nonlinear responses of various functional forms such as exponential, conventional and coupled type on modulational instability (MI) and the subsequent supercontinuum (SC) process. Firstly, we analyze the impact of SNL on the MI spectrum and found both analytically and numerically that MI gain and bandwidth is maximum for exponential nonlinearity in comparison to other types of SNL's. We also reported the unique behavior of the SNL system in the MI dynamics. Following the MI analysis, the proceeding section deals with the supercontinuum generation (SCG) process by virtue of MI. We examine exclusively the impact of each form of SNL on the SC spectrum and predicted numerically that exponential case attains the phase matching earlier and thus enable to achieve broad spectrum at a relatively shorter distance of propagation than the other cases of SNL's. Thus a direct evidence of SCG from MI is emphasized and the impact of SNL in MI-SCG is highlighted. To analyze the quality of the output continuum spectrum, we performed the coherence analysis for MI-SCG in the presence of SNL.
Wave turbulence in shallow water models.
Clark di Leoni, P; Cobelli, P J; Mininni, P D
2014-06-01
We study wave turbulence in shallow water flows in numerical simulations using two different approximations: the shallow water model and the Boussinesq model with weak dispersion. The equations for both models were solved using periodic grids with up to 2048{2} points. In all simulations, the Froude number varies between 0.015 and 0.05, while the Reynolds number and level of dispersion are varied in a broader range to span different regimes. In all cases, most of the energy in the system remains in the waves, even after integrating the system for very long times. For shallow flows, nonlinear waves are nondispersive and the spectrum of potential energy is compatible with ∼k{-2} scaling. For deeper (Boussinesq) flows, the nonlinear dispersion relation as directly measured from the wave and frequency spectrum (calculated independently) shows signatures of dispersion, and the spectrum of potential energy is compatible with predictions of weak turbulence theory, ∼k{-4/3}. In this latter case, the nonlinear dispersion relation differs from the linear one and has two branches, which we explain with a simple qualitative argument. Finally, we study probability density functions of the surface height and find that in all cases the distributions are asymmetric. The probability density function can be approximated by a skewed normal distribution as well as by a Tayfun distribution.
ERIC Educational Resources Information Center
Wright, H. F.; Hall, S.; Hames, A.; Hardiman, J.; Mills, R.; Mills, D. S.
2015-01-01
This study describes the impact of pet dogs on stress of primary carers of children with Autism Spectrum Disorder (ASD). Stress levels of 38 primary carers acquiring a dog and 24 controls not acquiring a dog were sampled at: Pre-intervention (17 weeks before acquiring a dog), post-intervention (3-10 weeks after acquisition) and follow-up…
Measurement of the 23Na(n,2n) cross section in 235U and 252Cf fission neutron spectra
NASA Astrophysics Data System (ADS)
Košťál, Michal; Schulc, Martin; Rypar, Vojtěch; Losa, Evžen; Švadlenková, Marie; Baroň, Petr; Jánský, Bohumil; Novák, Evžen; Mareček, Martin; Uhlíř, Jan
2017-09-01
The presented paper aims to compare the calculated and experimental reaction rates of 23Na(n,2n)22Na in a well-defined reactor spectra and in the spontaneous fission spectrum of 252Cf. The experimentally determined reaction rate, derived using gamma spectroscopy of irradiated NaF sample, is used for average cross section determination.Estimation of this cross-section is important as it is included in International Reactor Dosimetry and Fusion File and is also relevant to the correct estimation of long-term activity of Na coolant in Sodium Fast Reactors. The calculations were performed with the MCNP6 code using ENDF/B-VII.0, JEFF-3.1, JEFF-3.2, JENDL-3.3, JENDL-4, ROSFOND-2010, CENDL-3.1 and IRDFF nuclear data libraries. In the case of reactor spectrum, reasonable agreement was not achieved with any library. However, in the case of 252Cf spectrum agreement was achieved with IRDFF, JEFF-3.1 and JENDL libraries.
Badrakh, Jugderjav; Zayasaikhan, Setsen; Jagdagsuren, Davaalkham; Enkhbat, Erdenetungalag; Jadambaa, Narantuya; Munkhbaatar, Sergelen; Taylor, Melanie; Rowley, Jane; Mahiané, Guy; Korenromp, Eline
2017-01-01
To estimate Mongolia's prevalence and incidence trends of gonorrhoea and chlamydia in women and men 15-49 years old to inform control of STIs and HIV, a national health sector priority. We applied the Spectrum-STI estimation model, fitting data from two national population surveys (2001 and 2008) and from routine gonorrhoea screening of pregnant women in antenatal care (1997 to 2016) adjusted for diagnostic test performance, male/female differences and missing high-risk populations. Prevalence and incidence estimates were then used to assess completeness of national case reporting. Gonorrhoea prevalence was estimated at 3.3% (95% confidence interval, 1.6-3.9%) in women and 2.9% (1.6-4.1%) in men in 2016; chlamydia prevalence levels were 19.5% (17.3-21.9%) and 15.6% (10.0-21.2%), respectively. Corresponding new incident cases in women and men in 2016 totalled 60 334 (36 147 to 121 933) and 76 893 (35 639 to 254 913) for gonorrhoea and 131 306 (84 232 to 254 316) and 148 162 (71 885 to 462 588) for chlamydia. Gonorrhoea and chlamydia prevalence declined by an estimated 33% and 11%, respectively from 2001 to 2016.Comparing numbers of symptomatic and treated cases estimated by Spectrum with gonorrhoea case reports suggests that 15% of symptomatic treated gonorrhoea cases were reported in 2016; only a minority of chlamydia episodes were reported as male urethral discharge cases. Gonorrhoea and chlamydia prevalence are estimated to have declined in Mongolia during the early 2000s, possibly associated with syndromic management in primary care facilities and improving treatment coverage since 2001 and scale up of HIV/STI prevention interventions since 2003. However, prevalence remains high with most gonorrhoea and chlamydia cases not treated or recorded in the public health system.
Case reports of Dipylidium caninum; a pet associated infection.
Wijesundera, M D; Ranaweera, R L
1989-03-01
Two cases of Dipylidium caninum (dog tape worm) infection occurring in children are reported for the first time in Sri Lanka. The diagnosis and treatment with praziquantel, a new broad spectrum antiplatyhelmintic, are described. The importance of this pet associated infection is discussed with special reference to preventive measures.
ERIC Educational Resources Information Center
Kleinman, Jamie M.; Robins, Diana L.; Ventola, Pamela E.; Pandey, Juhi; Boorstein, Hilary C.; Esser, Emma L.; Wilson, Leandra B.; Rosenthal, Michael A.; Sutera, Saasha; Verbalis, Alyssa D.; Barton, Marianne; Hodgson, Sarah; Green, James; Dumont-Mathieu, Thyde; Volkmar, Fred; Chawarska, Katarzyna; Klin, Ami; Fein, Deborah
2008-01-01
Autism spectrum disorders (ASD) often go undetected in toddlers. The Modified Checklist for Autism in Toddlers (M-CHAT) was used to screen 3,793 children aged 16-30 months from low- and high-risk sources; screen positive cases were diagnostically evaluated. Re-screening was performed on 1,416 children aged 42-54 months. Time1 Positive Predictive…
Federal Research and Development Funding: FY2011
2010-10-04
characteristics of 20 common malignancies, and will undertake complete genome sequencing and analysis of 300 autism spectrum disorder cases. In support of...of novel compounds in Phase 1-3 clinical trials by 2016. NIH’s HIV/AIDS research portfolio, covering the spectrum from basic viral research to vaccine ...research institutions across all the states. A White House press release highlighted examples of research in cancer, heart disease, and autism
Federal Research and Development Funding: FY2011
2010-08-19
autism spectrum disorder cases. In support of the National Nanotechnology Initiative, NIH is requesting an increase of $22 million (6.0%) to a total...spectrum from basic viral research to vaccine development trials, would increase 3.2% to about $3.2 billion in FY2011. Overall funding on stem cell...in cancer, heart disease, and autism , particularly over $1 billion in research applying the technology produced by the Human Genome Project.39
ERIC Educational Resources Information Center
Raz, Raanan; Weisskopf, Marc G.; Davidovitch, Michael; Pinto, Ofir; Levine, Hagai
2015-01-01
We analyzed data from the Israeli National Insurance Institute (NII). Autism Spectrum Disorder (ASD) incidence was calculated for all children born in Israel 1992-2009, and by population groups. Overall, 9,109 ASD cases among 2,431,649 children were identified. ASD cumulative incidence by age 8 years increased 10-fold during 2000-2011, from 0.49 %…
Use of the recreation opportunity spectrum in natural protected area planning and management
Gustavo Perez-Verdin; Martha E. Lee; Deborah J. Chavez
2008-01-01
The use of the Recreation Opportunity Spectrum (ROS) framework, widely used in planning and managing wildland recreation in the United States, was tested for managing recreation opportunities in southern Durango, Mexico. Two natural protected areas were used as case studies to evaluate the ROS criteria and standards for land classification of outdoor recreation...
ERIC Educational Resources Information Center
Grenier, Michelle; Miller, Nancy; Black, Ken
2017-01-01
General physical education (GPE) affords many opportunities for students with and without disabilities to interact and develop positive peer relationships. This case study describes one teacher's use of collaborative practices, universal design for learning (UDL), and the inclusion spectrum to create an accessible learning environment in which the…
ERIC Educational Resources Information Center
Warfield, Marji Erickson; Crossman, Morgan K.; Delahaye, Jennifer; Der Weerd, Emma; Kuhlthau, Karen A.
2015-01-01
We conducted in-depth case studies of 10 health care professionals who actively provide primary medical care to adults with autism spectrum disorders. The study sought to understand their experiences in providing this care, the training they had received, the training they lack and their suggestions for encouraging more physicians to provide this…
Spectral Resolution-linked Bias in Transit Spectroscopy of Extrasolar Planets
DOE Office of Scientific and Technical Information (OSTI.GOV)
Deming, Drake; Sheppard, Kyle
We re-visit the principles of transmission spectroscopy for transiting extrasolar planets, focusing on the overlap between the planetary spectrum and the illuminating stellar spectrum. Virtually all current models of exoplanetary transmission spectra utilize an approximation that is inaccurate when the spectrum of the illuminating star has a complex line structure, such as molecular bands in M-dwarf spectra. In those cases, it is desirable to model the observations using a coupled stellar–planetary radiative transfer model calculated at high spectral resolving power, followed by convolution to the observed resolution. Not consistently accounting for overlap of stellar M-dwarf and planetary lines at highmore » spectral resolution can bias the modeled amplitude of the exoplanetary transmission spectrum, producing modeled absorption that is too strong. We illustrate this bias using the exoplanet TRAPPIST-1b, as observed using Hubble Space Telescope /WFC3. The bias in this case is about 250 ppm, 12% of the modeled transit absorption. Transit spectroscopy using JWST will have access to longer wavelengths where the water bands are intrinsically stronger, and the observed signal-to-noise ratios will be higher than currently possible. We therefore expect that this resolution-linked bias will be especially important for future JWST observations of TESS-discovered super-Earths and mini-Neptunes transiting M-dwarfs.« less
Spectral Resolution-linked Bias in Transit Spectroscopy of Extrasolar Planets
NASA Astrophysics Data System (ADS)
Deming, Drake; Sheppard, Kyle
2017-05-01
We re-visit the principles of transmission spectroscopy for transiting extrasolar planets, focusing on the overlap between the planetary spectrum and the illuminating stellar spectrum. Virtually all current models of exoplanetary transmission spectra utilize an approximation that is inaccurate when the spectrum of the illuminating star has a complex line structure, such as molecular bands in M-dwarf spectra. In those cases, it is desirable to model the observations using a coupled stellar-planetary radiative transfer model calculated at high spectral resolving power, followed by convolution to the observed resolution. Not consistently accounting for overlap of stellar M-dwarf and planetary lines at high spectral resolution can bias the modeled amplitude of the exoplanetary transmission spectrum, producing modeled absorption that is too strong. We illustrate this bias using the exoplanet TRAPPIST-1b, as observed using Hubble Space Telescope/WFC3. The bias in this case is about 250 ppm, 12% of the modeled transit absorption. Transit spectroscopy using JWST will have access to longer wavelengths where the water bands are intrinsically stronger, and the observed signal-to-noise ratios will be higher than currently possible. We therefore expect that this resolution-linked bias will be especially important for future JWST observations of TESS-discovered super-Earths and mini-Neptunes transiting M-dwarfs.
Schöberl, F; Csanadi, E; Eren, O; Dieterich, M; Kümpfel, T
2017-01-01
Neuromyelitis Optica Spectrum Disorder (NMOSD) is an immune-mediated disease of the central nervous system with the presence of aquaporin 4-antibodies (AQP4-abs) in most cases. We describe a patient who developed NMOSD after a yellow fever vaccination. He presented to us with an unusual painful erythema Th7-9 triggered by touch in the respective skin area due to a cervical spinal cord lesion affecting the dorsolateral parts of C6/7. To our knowledge, this is the first case of NMOSD with such a clinical presentation expanding the clinical spectrum of NMOSD. It is important to be aware of that a yellow fever vaccination can trigger NMOSD. Copyright © 2016 Elsevier B.V. All rights reserved.
ERIC Educational Resources Information Center
Cerezo, M.A.; Pons-Salvador, G.
2004-01-01
Objectives:: The purpose of this 5-year study was to improve detection in two consecutive phases: (a) To close the gap between the number of identified cases and the actual number of cases of child abuse by increasing detection; and (b) To increase the possibility of a broader spectrum of detection. Method:: The Balearic Islands (one of the…
Miller, Judith S.; Farley, Megan; Coon, Hilary; Pinborough-Zimmerman, Judith; Jenson, William; Rice, Catherine E.; Fombonne, Eric; Pingree, Carmen B.; Ritvo, Edward; Ritvo, Riva-Ariella; McMahon, William M.
2015-01-01
The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally “Diagnosed Not Autistic” met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today’s diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. PMID:22696195
The spectrum of skin biopsies and excisions in a pediatric skin center.
Theiler, Martin; Neuhaus, Kathrin; Kerl, Katrin; Weibel, Lisa
2017-12-01
Little is known about the spectrum of pediatric skin disorders requiring biopsy/excision, their indication, impact on further management, and the accuracy of clinical diagnosis. We aimed to address these questions in the patient population seen at our Swiss University referral center for Pediatric Dermatology and Plastic Surgery. All skin biopsies/excisions performed in patients aged ≤ 16 years over a period of 2 years were retrospectively analyzed. A total of 506 samples were included. The majority of biopsies/excisions (n = 413, 82%) was performed for tumors, cysts, and hamartomas and 18% for other skin conditions. Malignant tumors were found in 12 samples (2%) from four patients. In 121 (24%) patients, the histopathology had an important impact on patient management. In 80 (16%) cases, the pathology did not match with the clinical diagnosis. In 382 (75%) cases, excision was the treatment of choice. Of these, the indication for surgery was based on patient's request in 181 (47%) cases. Surgical interventions for pediatric skin disorders are performed for diagnostic and therapeutic reasons. In this cohort, histopathology was essential for treatment in one quarter of cases. Skin tumors, cysts, and hamartomas often require excision during childhood, with families' request and esthetic considerations playing an important role. What is Known: • The spectrum of pediatric skin conditions has been studied in outpatient, inpatient, and emergency settings. • In contrast, no data exist on the spectrum of pediatric skin disorders undergoing biopsy/excision specifically. What is New: • We analyze biopsies/excisions in children, focusing on diagnosis, indication, and impact on patient management. • Surgical interventions for skin disorders in children are often performed for tumors and hamartomas with esthetic considerations playing a relevant role. If used for diagnostic purposes, they are often performed to confirm or rule out severe skin disease.
Coherent Radiative Control of Chemical Reactions
1992-01-01
calculation. The criterion used i Cm to resrict the number of states to be included was that the overlaps Figure 10. Case i: Stimulated emission spectrum...is reflected in the fluorescence emission as quantum beats. It is well known that both the state created by photon excitation and any subsequent...Combining eqs. (4) and (5) gives the general expression for the fluo- rescence emission spectrum associated with a state created by a partially coherent
ERIC Educational Resources Information Center
Narzisi, Antonio; Calderoni, Sara; Maestro, Sandra; Calugi, Simona; Mottes, Emanuela; Muratori, Filippo
2013-01-01
Tools to identify toddlers with autism in clinical settings have been recently developed. This study evaluated the sensitivity and specificity of the Child Behavior Check List 1 1/2-5 (CBCL 1 1/2-5) in the detection of toddlers subsequently diagnosed with an Autism Spectrum Disorder (ASD), ages 18-36 months. The CBCL of 47 children with ASD were…
ERIC Educational Resources Information Center
Veenstra, Baukje; van Geert, Paul L. C.; van der Meulen, Bieuwe F.
2012-01-01
In this exploratory multiple case study, it is examined how a computer game focused on improving ineffective learning behavior can be used as a tool to assess, improve, and study real-time mouse behavior (MB) in different types of children: 18 children (3.8-6.3 years) with Autistic Spectrum Disorder (ASD), Attention Deficit/Hyperactivity Disorder…
Autism spectrum disorders in gender dysphoric children and adolescents.
de Vries, Annelou L C; Noens, Ilse L J; Cohen-Kettenis, Peggy T; van Berckelaer-Onnes, Ina A; Doreleijers, Theo A
2010-08-01
Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity clinic received a standardized assessment during which a GID diagnosis was made and ASD suspected cases were identified. The Dutch version of the Diagnostic Interview for Social and Communication Disorders (10th rev., DISCO-10) was administered to ascertain ASD classifications. The incidence of ASD in this sample of children and adolescents was 7.8% (n = 16). Clinicians should be aware of co-occurring ASD and GID and the challenges it generates in clinical management.
Secure information transmission in filter bank multi-carrier spread spectrum systems
Majid, Arslan; Moradi, Hussein; Farhang-Boroujeny, Behrouz
2015-12-17
This report discusses the issue of secure information transmission for a spread-spectrum system, which in our case is Filter-Bank Multi-Carrier spread spectrum (FB-MC SS). We develop a novel method for generating a secret key to augment the security of the spread spectrum system. The proposed key generation takes advantage of the channel reciprocity exhibited between two communicating parties.We validate the key generation aspect of our system by using real-world measurements. It is found that our augmentation of strongest path cancellation (SPC) is shown to be highly effective in our measurement scenarios where the adversary’s key would otherwise be significantly correlatedmore » with the legitimate nodes. Our approach in using the proposed key generation method as a part of FB-MC SS allows for it to be fault tolerant and it is not necessarily limited to FB-MC SS or spread-spectrum system in general. However, the advantage that our approach has in the domain of spread-spectrum security is that it significantly decorrelates the adversary’s key from the authentic parties. This aspect is crucial because if the adversary’s key is similar to the legitamate parties, then the adversary obtains a sizable advantage due to the fault tolerance nature of the developed spread spectrum key.« less
Secure information transmission in filter bank multi-carrier spread spectrum systems
DOE Office of Scientific and Technical Information (OSTI.GOV)
Majid, Arslan; Moradi, Hussein; Farhang-Boroujeny, Behrouz
This report discusses the issue of secure information transmission for a spread-spectrum system, which in our case is Filter-Bank Multi-Carrier spread spectrum (FB-MC SS). We develop a novel method for generating a secret key to augment the security of the spread spectrum system. The proposed key generation takes advantage of the channel reciprocity exhibited between two communicating parties.We validate the key generation aspect of our system by using real-world measurements. It is found that our augmentation of strongest path cancellation (SPC) is shown to be highly effective in our measurement scenarios where the adversary’s key would otherwise be significantly correlatedmore » with the legitimate nodes. Our approach in using the proposed key generation method as a part of FB-MC SS allows for it to be fault tolerant and it is not necessarily limited to FB-MC SS or spread-spectrum system in general. However, the advantage that our approach has in the domain of spread-spectrum security is that it significantly decorrelates the adversary’s key from the authentic parties. This aspect is crucial because if the adversary’s key is similar to the legitamate parties, then the adversary obtains a sizable advantage due to the fault tolerance nature of the developed spread spectrum key.« less
Entanglement spectrum of random-singlet quantum critical points
NASA Astrophysics Data System (ADS)
Fagotti, Maurizio; Calabrese, Pasquale; Moore, Joel E.
2011-01-01
The entanglement spectrum (i.e., the full distribution of Schmidt eigenvalues of the reduced density matrix) contains more information than the conventional entanglement entropy and has been studied recently in several many-particle systems. We compute the disorder-averaged entanglement spectrum in the form of the disorder-averaged moments TrρAα̲ of the reduced density matrix ρA for a contiguous block of many spins at the random-singlet quantum critical point in one dimension. The result compares well in the scaling limit with numerical studies on the random XX model and is also expected to describe the (interacting) random Heisenberg model. Our numerical studies on the XX case reveal that the dependence of the entanglement entropy and spectrum on the geometry of the Hilbert space partition is quite different than for conformally invariant critical points.
Use of a priori statistics to minimize acquisition time for RFI immune spread spectrum systems
NASA Technical Reports Server (NTRS)
Holmes, J. K.; Woo, K. T.
1978-01-01
The optimum acquisition sweep strategy was determined for a PN code despreader when the a priori probability density function was not uniform. A psuedo noise spread spectrum system was considered which could be utilized in the DSN to combat radio frequency interference. In a sample case, when the a priori probability density function was Gaussian, the acquisition time was reduced by about 41% compared to a uniform sweep approach.
Portable instant display and analysis reflectance spectrometer
NASA Technical Reports Server (NTRS)
Goetz, Alexander F. H. (Inventor)
1985-01-01
A portable analysis spectrometer (10) for field mineral identification is coupled to a microprocessor (11) and memory (12) through a bus (13) and A/D converter (14) to display (16) a spectrum of reflected radiation in a band selected by an adjustable band spectrometer (20) and filter (23). A detector array (21) provides output signals at spaced frequencies within the selected spectrometer band which are simultaneously converted to digital form for display. The spectrum displayed is compared with a collection of spectra for known minerals. That collection is stored in memory and selectively displayed with the measured spectrum, or stored in a separate portfolio. In either case, visual comparison is made. Alternatively, the microprocessor may use an algorithm to make the comparisons in search for the best match of the measured spectrum with one of the stored spectra to identify the mineral in the target area.
Hundallah, Khaled; Alenizi, Asma'a; AlHashem, Amal; Tabarki, Brahim
2016-07-01
Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability. In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala). This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Charcoal Regeneration. Part 1. Mechanism of TNT Adsorption
1977-11-01
cycle and particle size 29 6 Electron spectra of virgin FS300 as received 30 ii=_ 7 Electron spectrum of TNT standard 31 8 Electron spectrum of TNT in...ground in a mortar and pestle and passed through a series of US standard sieves. The ground charcoal passing through a 325 sieve (average particle...every case were crushed manually in a mortar and pestle and dis- persed ultrasonically in order to obtain a dispersion suitable for measurement. Mass
Modulational Instability of Cylindrical and Spherical NLS Equations. Statistical Approach
DOE Office of Scientific and Technical Information (OSTI.GOV)
Grecu, A. T.; Grecu, D.; Visinescu, Anca
2010-01-21
The modulational (Benjamin-Feir) instability for cylindrical and spherical NLS equations (c/s NLS equations) is studied using a statistical approach (SAMI). A kinetic equation for a two-point correlation function is written and analyzed using the Wigner-Moyal transform. The linear stability of the Fourier transform of the two-point correlation function is studied and an implicit integral form for the dispersion relation is found. This is solved for different expressions of the initial spectrum (delta-spectrum, Lorentzian, Gaussian), and in the case of a Lorentzian spectrum the total growth of the instability is calculated. The similarities and differences with the usual one-dimensional NLS equationmore » are emphasized.« less
Scriven, James E; Scobie, Antonia; Verlander, Neville Q; Houston, Angela; Collyns, Tim; Cajic, Vjeran; Kon, Onn Min; Mitchell, Tamara; Rahama, Omar; Robinson, Amy; Withama, Shirmila; Wilson, Peter; Maxwell, David; Agranoff, Daniel; Davies, Eleri; Llewelyn, Meirion; Soo, Shiu-Shing; Sahota, Amandip; Cooper, Mike; Hunter, Michael; Tomlins, Jennifer; Tiberi, Simon; Kendall, Simon; Dedicoat, Martin; Alexander, Eliza; Fenech, Teresa; Zambon, Maria; Lamagni, Theresa; Smith, E Grace; Chand, Meera
2018-05-24
Mycobacterium chimaera infection following cardiac surgery, due to contaminated cardiopulmonary bypass heater-cooler units, has been reported worldwide. However, the spectrum of clinical disease remains poorly understood. To address this, we report the clinical and laboratory features, treatment and outcome of the first 30 UK cases. Case note review was performed for cases identified retrospectively through outbreak investigations and prospectively through on-going surveillance. Case definition was Mycobacterium chimaera detected in any clinical specimen, history of cardiothoracic surgery with cardiopulmonary bypass, and compatible clinical presentation. Thirty patients were identified (28 with prosthetic material) exhibiting a spectrum of disease including prosthetic valve endocarditis (14/30), sternal wound infection (2/30), aortic graft infection (4/30), and disseminated (non-cardiac) disease (10/30). Patients presented a median of 14 months post surgery (maximum 5 years) most commonly complaining of fever and weight loss. Investigations frequently revealed lymphopenia, thrombocytopenia, liver cholestasis and non-necrotising granulomatous inflammation. Diagnostic sensitivity for a single mycobacterial blood culture was 68% but increased if multiple samples were sent. 27 patients started macrolide-based combination treatment and 14 had further surgery. To date, 18 patients have died (60%) a median of 30 months (IQR 20-39) after initial surgery. Survival analysis identified younger age, mitral valve surgery, mechanical valve replacement, higher serum sodium concentration and lower CRP as factors associated with better survival. Mycobacterium chimaera infection following cardiac surgery is associated with a wide spectrum of disease. The diagnosis should be considered in all patients who develop an unexplained illness following cardiac surgery. Copyright © 2018. Published by Elsevier Ltd.
[Effect of ascorbic acid (vitamin C) on the EPR spectra from the black and red hair].
Chikvaidze, E; Miminoshvili, A; Gogoladze, T; Kiparoidze, S
2012-02-01
The EPR spectra of melanin's free radicals in natural black and red hair have been investigated. It is show that the EPR spectrum of black hair is slightly asymmetric singlet with g=2,0035 and ΔH=0,5 mTl. The EPR spectrum of red hair with g=2,0053 differs from the spectrum of black hair. Under the influence of visible (blue with λ(max)=450 nm) in both types of hair (black and red), the protoinduced free radicals appear, which indicates an increase in the intensity of already existing EPR spectrum of hair. It should be noted that the EPR spectra of red hair from various donors are different. The antioxidant ascorbic acid has the different effect on the photoinduced free radicals. In particular, in the case of black hair, the concentration of photoinduced free radicals is slightly reduced, whereas in red hair, the disappearance of the triplet in the spectrum is observed, and at the same time, the spectrum becomes a singlet, the intensity of which increases sharply.
Spectrum sharing in cognitive radio networks--an auction-based approach.
Wang, Xinbing; Li, Zheng; Xu, Pengchao; Xu, Youyun; Gao, Xinbo; Chen, Hsiao-Hwa
2010-06-01
Cognitive radio is emerging as a promising technique to improve the utilization of the radio frequency spectrum. In this paper, we consider the problem of spectrum sharing among primary (or "licensed") users (PUs) and secondary (or "unlicensed") users (SUs). We formulate the problem based on bandwidth auction, in which each SU makes a bid for the amount of spectrum and each PU may assign the spectrum among the SUs by itself according to the information from the SUs without degrading its own performance. We show that the auction is a noncooperative game and that Nash equilibrium (NE) can be its solution. We first consider a single-PU network to investigate the existence and uniqueness of the NE and further discuss the fairness among the SUs under given conditions. Then, we present a dynamic updating algorithm in which each SU achieves NE in a distributed manner. The stability condition of the dynamic behavior for this spectrum-sharing scheme is studied. The discussion is generalized to the case in which there are multiple PUs in the network, where the properties of the NE are shown under appropriate conditions. Simulations were used to evaluate the system performance and verify the effectiveness of the proposed algorithm.
A robust power spectrum split cancellation-based spectrum sensing method for cognitive radio systems
NASA Astrophysics Data System (ADS)
Qi, Pei-Han; Li, Zan; Si, Jiang-Bo; Gao, Rui
2014-12-01
Spectrum sensing is an essential component to realize the cognitive radio, and the requirement for real-time spectrum sensing in the case of lacking prior information, fading channel, and noise uncertainty, indeed poses a major challenge to the classical spectrum sensing algorithms. Based on the stochastic properties of scalar transformation of power spectral density (PSD), a novel spectrum sensing algorithm, referred to as the power spectral density split cancellation method (PSC), is proposed in this paper. The PSC makes use of a scalar value as a test statistic, which is the ratio of each subband power to the full band power. Besides, by exploiting the asymptotic normality and independence of Fourier transform, the distribution of the ratio and the mathematical expressions for the probabilities of false alarm and detection in different channel models are derived. Further, the exact closed-form expression of decision threshold is calculated in accordance with Neyman—Pearson criterion. Analytical and simulation results show that the PSC is invulnerable to noise uncertainty, and can achive excellent detection performance without prior knowledge in additive white Gaussian noise and flat slow fading channels. In addition, the PSC benefits from a low computational cost, which can be completed in microseconds.
Dell'Osso, Liliana; Dalle Luche, Riccardo; Cerliani, Corrado; Bertelloni, Carlo Antonio; Gesi, Camilla; Carmassi, Claudia
2015-08-01
This paper highlights the clinical challenges faced when assessing patients with stalking behaviors with psychotic disorders, suggesting the need for an accurate assessment of adult autism spectrum symptoms. A 25-year-old man with a diagnosis of delusional disorder, erotomanic type, was hospitalized for acute psychotic symptoms occurred in the framework of a repeated stalking behavior towards his ex girlfriend. When assessed for adult autism spectrum symptoms upon an accurate clinical evaluation, he reported elevated scores in the mentalizing deficit and social anxiety domains by means of the 14 item Ritvo Autism and Asperger Diagnostic Scale (RAADS-14). Authors discuss a possible role of adult (subthreshold) autism spectrum symptoms, generally disregarded in adult psychiatry, on the type of psychotic features and stalking behavior developed that may help for appropriate diagnosis and treatment. Copyright © 2015 Elsevier Inc. All rights reserved.
Sexuality and gender role in autism spectrum disorder: a case control study.
Bejerot, Susanne; Eriksson, Jonna M
2014-01-01
The 'extreme male brain theory of autism' describes an extreme male pattern of cognitive traits defined as strong systemising abilities paired with empathising weaknesses in autism spectrum disorder. However, beyond these cognitive traits, clinical observations have suggested an ambiguous gender-typed pattern regarding several sexually dimorphic traits. The aim of the present study was to investigate if patterns of non-cognitive sexually dimorphic traits differed between the autism spectrum disorder and control groups. Fifty adults with autism spectrum disorder and intelligence within the normal range, and 53 neurotypical controls responded to questions on gender role, self-perceived gender typicality and gender identity, as well as sexuality. Measures used were a Swedish modification of the Bem Sex Role Inventory and questions on sexuality and gender designed for the purpose of this study. Our results showed that one common gender role emerged in the autism spectrum disorder group. Masculinity (e.g. assertiveness, leadership and competitiveness) was weaker in the autism spectrum disorder group than in the controls, across men and women. Self-perceived gender typicality did not differ between the groups but tomboyism and bisexuality were overrepresented amongst women with autism spectrum disorder. Lower libido was reported amongst both male and female participants with autism spectrum disorder compared with controls. We conclude that the extreme male patterns of cognitive functions in the autistic brain do not seem to extend to gender role and sexuality. A gender-atypical pattern for these types of characteristics is suggested in autism spectrum disorder.
Sexuality and Gender Role in Autism Spectrum Disorder: A Case Control Study
Bejerot, Susanne; Eriksson, Jonna M.
2014-01-01
The ‘extreme male brain theory of autism’ describes an extreme male pattern of cognitive traits defined as strong systemising abilities paired with empathising weaknesses in autism spectrum disorder. However, beyond these cognitive traits, clinical observations have suggested an ambiguous gender-typed pattern regarding several sexually dimorphic traits. The aim of the present study was to investigate if patterns of non-cognitive sexually dimorphic traits differed between the autism spectrum disorder and control groups. Fifty adults with autism spectrum disorder and intelligence within the normal range, and 53 neurotypical controls responded to questions on gender role, self-perceived gender typicality and gender identity, as well as sexuality. Measures used were a Swedish modification of the Bem Sex Role Inventory and questions on sexuality and gender designed for the purpose of this study. Our results showed that one common gender role emerged in the autism spectrum disorder group. Masculinity (e.g. assertiveness, leadership and competitiveness) was weaker in the autism spectrum disorder group than in the controls, across men and women. Self-perceived gender typicality did not differ between the groups but tomboyism and bisexuality were overrepresented amongst women with autism spectrum disorder. Lower libido was reported amongst both male and female participants with autism spectrum disorder compared with controls. We conclude that the extreme male patterns of cognitive functions in the autistic brain do not seem to extend to gender role and sexuality. A gender-atypical pattern for these types of characteristics is suggested in autism spectrum disorder. PMID:24498228
[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome].
Silva, João Miguel de Almeida; Silva, Cecília Pereira; Melo, Flavio Fernando Nogueira de; Silva, Luis Alberto A; Utagawa, Claudia Yamada
2010-08-01
The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.
Onion-shell model for cosmic ray electrons and radio synchrotron emission in supernova remnants
NASA Technical Reports Server (NTRS)
Beck, R.; Drury, L. O.; Voelk, H. J.; Bogdan, T. J.
1985-01-01
The spectrum of cosmic ray electrons, accelerated in the shock front of a supernova remnant (SNR), is calculated in the test-particle approximation using an onion-shell model. Particle diffusion within the evolving remnant is explicity taken into account. The particle spectrum becomes steeper with increasing radius as well as SNR age. Simple models of the magnetic field distribution allow a prediction of the intensity and spectrum of radio synchrotron emission and their radial variation. The agreement with existing observations is satisfactory in several SNR's but fails in other cases. Radiative cooling may be an important effect, especially in SNR's exploding in a dense interstellar medium.
Wnt-Spectrum Vitreoretinopathy Masquerading as Congenital Toxoplasmosis.
Callaway, Natalia F; Berrocal, Audina M
2018-06-01
Wnt-spectrum vitreoretinopathies are a group of rare inherited disorders of retinal angiogenesis that include familial exudative vitreoretinopathy/Norrie disease and are most commonly autosomal dominant; however, they can rarely present with other inheritance patterns that are more difficult to diagnose. The authors describe a case of an uncle misdiagnosed as congenital toxoplasmosis for decades and his 2-month-old nephew presenting with bilateral retinal detachments. Genetic analysis revealed an NDP gene mutation in the child and the uncle, as well as heterozygosity of the mother confirming a Wnt-spectrum vitreoretinopathy. This report describes the evaluation, diagnosis, and importance of early laser stabilization of this disorder. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:446-450.]. Copyright 2018, SLACK Incorporated.
Torrance type of lethal neonatal short-limbed platyspondylic dwarfism.
Kaibara, N; Yokoyama, K; Nakano, H
1983-01-01
A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity.
Fetal alcohol spectrum disorders--a case-control study from India.
Nayak, Raghavendra; Murthy, Pratima; Girimaji, Satish; Navaneetham, Jamuna
2012-02-01
Maternal alcohol abuse during pregnancy can lead to fetal neurotoxicity and fetal alcohol spectrum disorder (FASD). To compare the clinical features and neurobehavioral profiles of children exposed to alcohol during pregnancy with controls. Children exposed to alcohol in utero (n = 26) and 27-years age- and sex-matched controls were compared on FAS facial features, minor physical anomalies (MPAs), anthropometric measures, behavioral problems and intellectual functioning. MPAs were more common in cases (p = 0.001). Among FAS facial features, only philtrum smoothness varied significantly between the groups (p = 0.001). Behavioral problems (on Childhood Behavior Check List) were more pronounced (p = 0.001) and intellectual functioning significantly poorer in cases (p = 0.001) compared to controls. Children prenatally exposed to alcohol manifest several neurobehavioral problems compared to controls. Underlying malnutrition may have altered some of the clinical findings.
ERIC Educational Resources Information Center
Singer, Alison B.; Windham, Gayle C.; Croen, Lisa A.; Daniels, Julie L.; Lee, Brian K.; Qian, Yinge; Schendel, Diana E.; Fallin, M. Daniele; Burstyn, Igor
2016-01-01
Maternal immune activity has been linked to children with autism spectrum disorder (ASD). We examined maternal occupational exposure to asthma-causing agents during pregnancy in relation to ASD risk. Our sample included 463 ASD cases and 710 general population controls from the Study to Explore Early Development whose mothers reported at least one…
ERIC Educational Resources Information Center
LeGary, Robert A., Jr.
2017-01-01
This exploratory case study examined the reports by advanced undergraduate students with autism spectrum disorder (ASD) of perceived social supports that buffer college-related stress and facilitate academic success. The sample for this study was comprised of 10 advanced undergraduate students who self-identified as having ASD. These participants…
ERIC Educational Resources Information Center
Genc-Tosun, Derya; Kurt, Onur
2017-01-01
The purpose of the present study was to compare the effectiveness and efficiency of simultaneous prompting with and without video modeling in teaching food preparation skills to four participants with autism spectrum disorder, whose ages ranged from 5 to 6 years old. An adapted alternating treatment single-case experimental design was used to…
Injuries in Children with Autism Spectrum Disorder: Study to Explore Early Development (SEED)
ERIC Educational Resources Information Center
DiGuiseppi, Carolyn; Levy, Susan E.; Sabourin, Katherine R.; Soke, Gnakub N.; Rosenberg, Steven; Lee, Li-Ching; Moody, Eric; Schieve, Laura A.
2018-01-01
This study examined caregiver-reported medically-attended injuries among 30-68 month old children with autism spectrum disorder (ASD) compared to general population (POP) and non-ASD developmental disorders (DD) controls in the Study to Explore Early Development. Injuries were common in ASD cases (32.3%) as well as POP (30.2%) and DD (27.8%)…
Polynomials for crystal frameworks and the rigid unit mode spectrum
Power, S. C.
2014-01-01
To each discrete translationally periodic bar-joint framework in , we associate a matrix-valued function defined on the d-torus. The rigid unit mode (RUM) spectrum of is defined in terms of the multi-phases of phase-periodic infinitesimal flexes and is shown to correspond to the singular points of the function and also to the set of wavevectors of harmonic excitations which have vanishing energy in the long wavelength limit. To a crystal framework in Maxwell counting equilibrium, which corresponds to being square, the determinant of gives rise to a unique multi-variable polynomial . For ideal zeolites, the algebraic variety of zeros of on the d-torus coincides with the RUM spectrum. The matrix function is related to other aspects of idealized framework rigidity and flexibility, and in particular leads to an explicit formula for the number of supercell-periodic floppy modes. In the case of certain zeolite frameworks in dimensions two and three, direct proofs are given to show the maximal floppy mode property (order N). In particular, this is the case for the cubic symmetry sodalite framework and some other idealized zeolites. PMID:24379422
Primordial power spectrum features and consequences
NASA Astrophysics Data System (ADS)
Goswami, G.
2014-03-01
The present Cosmic Microwave Background (CMB) temperature and polarization anisotropy data is consistent with not only a power law scalar primordial power spectrum (PPS) with a small running but also with the scalar PPS having very sharp features. This has motivated inflationary models with such sharp features. Recently, even the possibility of having nulls in the power spectrum (at certain scales) has been considered. The existence of these nulls has been shown in linear perturbation theory. What shall be the effect of higher order corrections on such nulls? Inspired by this question, we have attempted to calculate quantum radiative corrections to the Fourier transform of the 2-point function in a toy field theory and address the issue of how these corrections to the power spectrum behave in models in which the tree-level power spectrum has a sharp dip (but not a null). In particular, we have considered the possibility of the relative enhancement of radiative corrections in a model in which the tree-level spectrum goes through a dip in power at a certain scale. The mode functions of the field (whose power spectrum is to be evaluated) are chosen such that they undergo the kind of dynamics that leads to a sharp dip in the tree level power spectrum. Next, we have considered the situation in which this field has quartic self interactions, and found one loop correction in a suitably chosen renormalization scheme. Thus, we have attempted to answer the following key question in the context of this toy model (which is as important in the realistic case): In the chosen renormalization scheme, can quantum radiative corrections be enhanced relative to tree-level power spectrum at scales, at which sharp dips appear in the tree-level spectrum?
The clinical spectrum of late-onset Alexander disease: a systematic literature review.
Balbi, Pietro; Salvini, Silvana; Fundarò, Cira; Frazzitta, Giuseppe; Maestri, Roberto; Mosah, Dibo; Uggetti, Carla; Sechi, GianPietro
2010-12-01
Following the discovery of glial fibrillary acidic protein (GFAP) mutations as the causative factor of Alexander disease (AxD), new case reports have recently increased, prompting a more detailed comprehension of the clinical features of the three disease subtypes (infantile, juvenile and adult). While the clinical pattern of the infantile form has been substantially confirmed, the late-onset subtypes (i.e., juvenile and adult), once considered rare manifestations of AxD, have displayed a wider clinical spectrum. Our aim was to evaluate the clinical phenotype of the adult and juvenile forms by reviewing the previously reported cases. Data were collected from previously published reports on 112 subjects affected by neuropathologically or genetically proven adult and juvenile Alexander disease. Although the late-onset forms of AxD show a wide clinical variability, a common pattern emerges from comparing previously reported cases, characterized by pseudo-bulbar signs, ataxia, and spasticity, associated with atrophy of the medulla and upper cervical cord on neuroimaging. Late-onset AxD cases can no longer be considered as rare manifestations of the disease. The clinical pattern usually reflects the topographic localization of the lesions, with adult cases displaying a predominant infratentorial localization of the lesions. Juvenile cases show clinical and radiological features which are intermediate between adult and infantile forms.
Rao, Qiu; Cheng, Liang; Xia, Qiu-yuan; Liu, Biao; Li, Li; Shi, Qun-li; Shi, Shan-shan; Yu, Bo; Zhang, Ru-song; Ma, Heng-hui; Lu, Zhen-feng; Tu, Pin; Zhou, Xiao-jun
2013-03-01
Recent studies have demonstrated that cathepsin K seems to be a powerful marker in identifying renal perivascular epithelioid cell neoplasms (PEComas). However, the expression in extrarenal PEComas has not been well characterized due to their rare incidence. Our aim was to investigate the expression of cathepsin K in a wide spectrum of extrarenal PEComas and evaluate its potential diagnostic usefulness in comparison with other commonly used markers. Twenty-three cases of PEComa (liver, n = 9; lung, n = 1; broad ligament of uterus, n = 1; vertex subcutaneous soft tissue, n = 1; abdominal wall, n = 1; and kidney, n = 10) were selected for study. All displayed a high percentage of cells with moderately to strongly positive reactions for cathepsin K (mean 91%; range 80-100%). HMB45, Melan-A and smooth muscle actin (SMA) were expressed in 78, 87 and 87% of cases, respectively, with various percentages of positive cells (mean, 34, 40 and 38%; range 0-80, 0-90 and 0-90%). Transcription factor E3 (TFE3) was expressed strongly in only three cases; none exhibited evidence of TFE3 gene fusion or amplification. Cathepsin K appears to be more powerful than other commonly used markers in diagnosing a wide spectrum of PEComas and distinguishing them from the majority of human cancers. © 2012 Blackwell Publishing Ltd.
The Spectrum of School--University Partnerships: A Typology of Organizational Learning Systems
ERIC Educational Resources Information Center
Callahan, Jamie L.; Martin, Dorian
2007-01-01
School-university partnerships are not uni-dimensional projects. Success in these partnerships can be found in loosely-coupled systems such as client-server partnerships and in more tightly-coupled systems such as collaborative development centers. Using a comparative case study approach, we explore two school-university partnership case studies…
Trade Study for Neutron Transport at Low Earth Orbit: Adding Fidelity to DIORAMA
DOE Office of Scientific and Technical Information (OSTI.GOV)
McClanahan, Tucker Caden; Wakeford, Daniel Tyler
The Distributed Infrastructure Offering Real-Time Access to Modeling and Analysis (DIORAMA) software provides performance modeling capabilities of the United States Nuclear Detonation Detection System (USNDS) with a focus on the characterization of Space-Based Nuclear Detonation Detection (SNDD) instrument performance [1]. A case study was done to add the neutron propagation capabilities of DIORAMA to low earth orbit (LEO), and compare the back-calculated incident energy from the time-of- ight (TOF) spectrum with the scored incident energy spectrum. As the scoring altitude lowers, the time increase due to scattering takes up much more of the fraction of total TOF; whereas at geosynchronousmore » earth orbit (GEO), the time increase due to scattering is a negligible fraction of the total TOF [2]. The scattering smears out the TOF enough to make the back-calculation of the initial energy spectrum from the TOF spectrum very convoluted.« less
ERIC Educational Resources Information Center
Kawakami, Chihiro; Ohnishi, Masafumi; Sugiyama, Toshiro; Someki, Fumio; Nakamura, Kazuhiko; Tsujii, Masatsugu
2012-01-01
Most reports of the criminal behaviour of individuals with high-functioning autism spectrum disorder (HFASD) have been case studies, and few have empirically examined the risk factors of criminal behaviour among these individuals. This study examined 175 individuals with HFASD, including 36 individuals who had a prior history of criminal…
Cerezo, Javier; Aranda, Daniel; Avila Ferrer, Francisco J; Prampolini, Giacomo; Mazzeo, Giuseppe; Longhi, Giovanna; Abbate, Sergio; Santoro, Fabrizio
2018-06-01
We extend a recently proposed mixed quantum/classical method for computing the vibronic electronic circular dichroism (ECD) spectrum of molecules with different conformers, to cases where more than one hindered rotation is present. The method generalizes the standard procedure, based on the simple Boltzmann average of the vibronic spectra of the stable conformers, and includes the contribution of structures that sample all the accessible conformational space. It is applied to the simulation of the ECD spectrum of (S)-2,2,2-trifluoroanthrylethanol, a molecule with easily interconvertible conformers, whose spectrum exhibits a pattern of alternating positive and negative vibronic peaks. Results are in very good agreement with experiment and show that spectra averaged over all the sampled conformational space can deviate significantly from the simple average of the contributions of the stable conformers. The present mixed quantum/classical method is able to capture the effect of the nonlinear dependence of the rotatory strength on the molecular structure and of the anharmonic couplings among the modes responsible for molecular flexibility. Despite its computational cost, the procedure is still affordable and promises to be useful in all cases where the ECD shape arises from a subtle balance between vibronic effects and conformational variety. © 2018 Wiley Periodicals, Inc.
NASA Astrophysics Data System (ADS)
Zhang, Ming
2015-10-01
A theory of 2-stage acceleration of Galactic cosmic rays in supernova remnants is proposed. The first stage is accomplished by the supernova shock front, where a power-law spectrum is established up to a certain cutoff energy. It is followed by stochastic acceleration with compressible waves/turbulence in the downstream medium. With a broad \\propto {k}-2 spectrum for the compressible plasma fluctuations, the rate of stochastic acceleration is constant over a wide range of particle momentum. In this case, the stochastic acceleration process extends the power-law spectrum cutoff energy of Galactic cosmic rays to the knee without changing the spectral slope. This situation happens as long as the rate of stochastic acceleration is faster than 1/5 of the adiabatic cooling rate. A steeper spectrum of compressible plasma fluctuations that concentrate their power in long wavelengths will accelerate cosmic rays to the knee with a small bump before its cutoff in the comic-ray energy spectrum. This theory does not require a strong amplification of the magnetic field in the upstream interstellar medium in order to accelerate cosmic rays to the knee energy.
Conversion of the luminescence of laser dyes in opal matrices to stimulated emission
DOE Office of Scientific and Technical Information (OSTI.GOV)
Alimov, O K; Basiev, T T; Orlovskii, Yu V
The luminescence and laser characteristics of a synthetic opal matrix filled with organic dyes are studied upon excitation by nanosecond laser pulses. The appearance of stimulated emission in a partially ordered scattering medium is investigated. It is shown that if the luminescence spectrum of a dye (oxazine-17) is located far outside the photonic bandgap of the opal matrix, stimulated emission along a preferential direction in the (111) plane is observed when pumping exceeds a threshold even without an external optical cavity. The stimulated emission spectrum is considerably narrower than the luminescence spectrum and consists of several narrow lines located withinmore » the dye luminescence band. If the luminescence spectrum of a dye (rhodamine 6G) overlaps with the photonic bandgap of the opal matrix, a different picture is observed. The loss of radiation in the matrix leads to the red shift of the luminescence spectrum, while the stimulated emission as in the case of oxazine-17 lies is observed within the luminescence band. (active media, lasers, and amplifiers)« less
Korenromp, Eline; Hamilton, Matthew; Sanders, Rachel; Mahiané, Guy; Briët, Olivier J T; Smith, Thomas; Winfrey, William; Walker, Neff; Stover, John
2017-11-07
In malaria-endemic countries, malaria prevention and treatment are critical for child health. In the context of intervention scale-up and rapid changes in endemicity, projections of intervention impact and optimized program scale-up strategies need to take into account the consequent dynamics of transmission and immunity. The new Spectrum-Malaria program planning tool was used to project health impacts of Insecticide-Treated mosquito Nets (ITNs) and effective management of uncomplicated malaria cases (CMU), among other interventions, on malaria infection prevalence, case incidence and mortality in children 0-4 years, 5-14 years of age and adults. Spectrum-Malaria uses statistical models fitted to simulations of the dynamic effects of increasing intervention coverage on these burdens as a function of baseline malaria endemicity, seasonality in transmission and malaria intervention coverage levels (estimated for years 2000 to 2015 by the World Health Organization and Malaria Atlas Project). Spectrum-Malaria projections of proportional reductions in under-five malaria mortality were compared with those of the Lives Saved Tool (LiST) for the Democratic Republic of the Congo and Zambia, for given (standardized) scenarios of ITN and/or CMU scale-up over 2016-2030. Proportional mortality reductions over the first two years following scale-up of ITNs from near-zero baselines to moderately higher coverages align well between LiST and Spectrum-Malaria -as expected since both models were fitted to cluster-randomized ITN trials in moderate-to-high-endemic settings with 2-year durations. For further scale-up from moderately high ITN coverage to near-universal coverage (as currently relevant for strategic planning for many countries), Spectrum-Malaria predicts smaller additional ITN impacts than LiST, reflecting progressive saturation. For CMU, especially in the longer term (over 2022-2030) and for lower-endemic settings (like Zambia), Spectrum-Malaria projects larger proportional impacts, reflecting onward dynamic effects not fully captured by LiST. Spectrum-Malaria complements LiST by extending the scope of malaria interventions, program packages and health outcomes that can be evaluated for policy making and strategic planning within and beyond the perspective of child survival.
Unsteady Cascade Aerodynamic Response Using a Multiphysics Simulation Code
NASA Technical Reports Server (NTRS)
Lawrence, C.; Reddy, T. S. R.; Spyropoulos, E.
2000-01-01
The multiphysics code Spectrum(TM) is applied to calculate the unsteady aerodynamic pressures of oscillating cascade of airfoils representing a blade row of a turbomachinery component. Multiphysics simulation is based on a single computational framework for the modeling of multiple interacting physical phenomena, in the present case being between fluids and structures. Interaction constraints are enforced in a fully coupled manner using the augmented-Lagrangian method. The arbitrary Lagrangian-Eulerian method is utilized to account for deformable fluid domains resulting from blade motions. Unsteady pressures are calculated for a cascade designated as the tenth standard, and undergoing plunging and pitching oscillations. The predicted unsteady pressures are compared with those obtained from an unsteady Euler co-de refer-red in the literature. The Spectrum(TM) code predictions showed good correlation for the cases considered.
Miniature integrated-optical wavelength analyzer chip
NASA Astrophysics Data System (ADS)
Kunz, R. E.; Dübendorfer, J.
1995-11-01
A novel integrated-optical chip suitable for realizing compact miniature wavelength analyzers with high linear dispersion is presented. The chip performs the complete task of converting the spectrum of an input beam into a corresponding spatial irradiance distribution without the need for an imaging function. We demonstrate the feasibility of this approach experimentally by monitoring the changes in the mode spectrum of a laser diode on varying its case temperature. Comparing the results with simultaneous measurements by a commercial spectrometer yielded a rms wavelength deviation of 0.01 nm.
Kneller, James P.; Mauney, Alex W.
2013-08-23
Here, the transition probabilities describing the evolution of a neutrino with a given energy along some ray through a turbulent supernova profile are random variates unique to each ray. If the proto-neutron-star source of the neutrinos were a point, then one might expect the evolution of the turbulence would cause the flavor composition of the neutrinos to vary in time i.e. the flavor would scintillate. But in reality the proto-neutron star is not a point source—it has a size of order ˜10km, so the neutrinos emitted from different points at the source will each have seen different turbulence. The finitemore » source size will reduce the correlation of the flavor transition probabilities along different trajectories and reduce the magnitude of the flavor scintillation. To determine whether the finite size of the proto-neutron star will preclude flavor scintillation, we calculate the correlation of the neutrino flavor transition probabilities through turbulent supernova profiles as a function of the separation δx between the emission points. The correlation will depend upon the power spectrum used for the turbulence, and we consider two cases: when the power spectrum is isotropic, and the more realistic case of a power spectrum which is anisotropic on large scales and isotropic on small. Although it is dependent on a number of uncalibrated parameters, we show the supernova neutrino source is not of sufficient size to significantly blur flavor scintillation in all mixing channels when using an isotropic spectrum, and this same result holds when using an anisotropic spectrum, except when we greatly reduce the similarity of the turbulence along parallel trajectories separated by ˜10km or less.« less
Effects of Source Correlations on the Spectrum of Radiated Fields
1990-09-01
media. When the refractive index n(co) is nearly constant over the source spectral width, the medium acts as a non- dispersive homogeneous medium of...constant refractive index no = n(w0 ), where o is the central frequency of the source spectrum. We will consider the non- dispersive case first. It is...in free space (a), for propagation in a homogeneous medium of an index of refraction n((o) = 1.5 (b) and for propagation in a medium of index of
Equivalent source modeling of the main field using MAGSAT data
NASA Technical Reports Server (NTRS)
1981-01-01
Modeling and software development of the main field using MAGSAT data is discussed. The cause of the apparent bulge in the power spectrum of Dipole model no. 4 was investigated by simulation with POGO crustal anomaly field model. Results for cases with and without noise, and the spectra of selected reslts are given. It is indicated that the beginning of the bump in the spectrum of Dipole no. 4 is due to crustal influence, while the departure of the spectrum from that of MGST (12/80-2) around expansion order 17 is due to the resolution limits of the Dipole density.
Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.
2000-01-01
Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.
Myopericytoma of skin and soft tissues: clinicopathologic and immunohistochemical study of 54 cases.
Mentzel, Thomas; Dei Tos, Angelo P; Sapi, Zoltan; Kutzner, Heinz
2006-01-01
Perivascular neoplasms comprise traditionally glomus tumor and hemangiopericytoma (HPC). Whereas glomus tumor represents a well-defined entity, the existence of HPC as a separate entity has been questioned because a number of neoplasms of different lines of differentiation are characterized by a HPC-like vascular growth pattern. Myopericytoma represents a recently delineated entity showing a HPC-like vascular pattern. A large series of myopericytoma of skin and soft tissues has been analyzed to further characterize the clinicopathologic spectrum of this entity. Fifty-four cases of myopericytoma of skin and soft tissues were retrieved and the histology reviewed. Immunohistochemical stainings using alpha-smooth muscle actin (ASMA), desmin, and h-caldesmon antibodies were performed, and clinical data and follow-up information were obtained from referring pathologists. Thirty-four patients were male and 18 were female (gender was unknown in 2 cases). Patient age ranged from 13 to 87 years (median, 52 years). The lower extremities were most commonly affected (26 cases) followed by the upper extremities (16 cases), the head and neck region (4 cases), and the trunk (2 cases); exact location was unknown in 5 cases. In 20 cases, the neoplasms were confined to the dermis, in 6 cases an extension into the subcutis was seen, and 24 as well as 4 cases arose in subcutaneous and deep soft tissue, respectively. Two cases were multicentric; and in 1 of these patients, multiple anatomic regions were involved. Histologically, in all cases, numerous thin-walled vessels and a concentric, perivascular arrangement of ovoid, plump spindled to round myoid tumor cells was seen. However, a broad morphologic spectrum ranging from hypocellular, fibroma-like (3 cases), myofibroma-like (2 cases), angioleiomyoma-like (12 cases), and HPC-like neoplasms (13 cases) to classic myopericytomas (14 cases) and immature, cellular lesions (2 cases) was noted. In addition, 2 neoplasms with focal glomoid features, 5 intravascular, and 1 malignant myopericytomas were found. Prominent cytologic atypia and increased proliferative activity (>3 mitoses/10 high power fields) was seen in 4 and 2 cases, respectively. Immunohistochemically, all cases tested stained positively for ASMA. In addition, 29 of 32 cases tested stained positively for h-caldesmon, whereas desmin was only focally positive in 3 of 33 cases. Follow-up information was available in 46 cases (range, 7-168 months; median, 48 months). Despite marginal or incomplete excision in 23 of 46 cases, only 2 neoplasms (1 malignant and 1 intravascular myopericytoma) recurred locally (within 1 and 4 years, respectively). Despite overlapping morphologic features to angioleiomyoma and myofibroma, myopericytoma represents a distinct perivascular, myoid neoplasm of skin and soft tissues, characterized by a broad morphologic spectrum of concentrically, perivascularly growing myoid tumor cells that stain positively for ASMA and often for h-caldesmon, whereas desmin is usually negative. Most cases of myopericytoma behave in a benign fashion, but local recurrences and rarely metastases may occur in atypical and malignant neoplasms.
Liang, Y Y; Chen, H; Mizuseki, H; Kawazoe, Y
2011-04-14
We use density functional theory based nonequilibrium Green's function to self-consistently study the current through the 1,4-benzenedithiol (BDT). The elastic and inelastic tunneling properties through this Au-BDT-Au molecular junction are simulated, respectively. For the elastic tunneling case, it is found that the current through the tilted molecule can be modulated effectively by the external gate field, which is perpendicular to the phenyl ring. The gate voltage amplification comes from the modulation of the interaction between the electrodes and the molecules in the junctions. For the inelastic case, the electron tunneling scattered by the molecular vibrational modes is considered within the self-consistent Born approximation scheme, and the inelastic electron tunneling spectrum is calculated.
NASA Astrophysics Data System (ADS)
Eggert, F.; Camus, P. P.; Schleifer, M.; Reinauer, F.
2018-01-01
The energy-dispersive X-ray spectrometer (EDS or EDX) is a commonly used device to characterise the composition of investigated material in scanning and transmission electron microscopes (SEM and TEM). One major benefit compared to wavelength-dispersive X-ray spectrometers (WDS) is that EDS systems collect the entire spectrum simultaneously. Therefore, not only are all emitted characteristic X-ray lines in the spectrum, but also the complete bremsstrahlung distribution is included. It is possible to get information about the specimen even from this radiation, which is usually perceived more as a disturbing background. This is possible by using theoretical model knowledge about bremsstrahlung excitation and absorption in the specimen in comparison to the actual measured spectrum. The core aim of this investigation is to present a method for better bremsstrahlung fitting in unknown geometry cases by variation of the geometry parameters and to utilise this knowledge also for characteristic radiation evaluation. A method is described, which allows the parameterisation of the true X-ray absorption conditions during spectrum acquisition. An ‘effective tilt’ angle parameter is determined by evaluation of the bremsstrahlung shape of the measured SEM spectra. It is useful for bremsstrahlung background approximation, with exact calculations of the absorption edges below the characteristic peaks, required for P/B-ZAF model based quantification methods. It can even be used for ZAF based quantification models as a variable input parameter. The analytical results are then much more reliable for the different absorption effects from irregular specimen surfaces because the unknown absorption dependency is considered. Finally, the method is also applied for evaluation of TEM spectra. In this case, the real physical parameter optimisation is with sample thickness (mass thickness), which is influencing the emitted and measured spectrum due to different absorption with TEM measurements. The effects are in the very low energy part of the spectrum, and are much more visible with most recent windowless TEM detectors. The thickness of the sample can be determined in this way from the measured bremsstrahlung spectrum shape.
Application of interferential correlation of spectrum to the detection of atmospheric pollutants
NASA Technical Reports Server (NTRS)
Fortunato, G.
1979-01-01
The general correlation principles for spectra and spectra derivatives are studied by using the Fourier transform of the spectral distribution of energy from a source illuminating a double beam interferometer with transverse splitting by dividing luminance. In this correlation technique, the use of such an interferometer has the advantage of greater luminosity as compared with a slit spectrometer. However, the correlation example indicates that it is necessary to adapt the correlator to the particular case considered, in order to obtain the best gain in the signal to noise ratio. In the case of sulfur dioxide detection, a very simple mounting which could be used in some interesting industrial applications was developed. This mounting can be used each time that the substance to be analyzed has a quasi-periodic absorption spectrum: in particular this is often the case with absorption spectra of gases, and a mounting identical to the one described for sulfur dioxide proved to be effective in the detection of nitrogen oxides.
Autism Spectrum Disorders in Gender Dysphoric Children and Adolescents
Noens, Ilse L. J.; Cohen-Kettenis, Peggy T.; van Berckelaer-Onnes, Ina A.; Doreleijers, Theo A.
2010-01-01
Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity clinic received a standardized assessment during which a GID diagnosis was made and ASD suspected cases were identified. The Dutch version of the Diagnostic Interview for Social and Communication Disorders (10th rev., DISCO-10) was administered to ascertain ASD classifications. The incidence of ASD in this sample of children and adolescents was 7.8% (n = 16). Clinicians should be aware of co-occurring ASD and GID and the challenges it generates in clinical management. PMID:20094764
Quasinormal modes of black holes in Horndeski gravity
NASA Astrophysics Data System (ADS)
Tattersall, Oliver J.; Ferreira, Pedro G.
2018-05-01
We study the perturbations to general relativistic black holes (i.e., those without scalar hair) in Horndeski scalar-tensor gravity. First, we derive the equations of odd and even parity perturbations of both the metric and scalar field in the case of a Schwarzschild black hole, and show that the gravitational waves emitted from such a system contain a mixture of quasinormal mode frequencies from the usual general relativistic spectrum and those from the new scalar field spectrum, with the new scalar spectrum characterized by just two free parameters. We then specialize to the subfamily of Horndeski theories in which gravitational waves propagate at the speed of light c on cosmological backgrounds; the scalar quasinormal mode spectrum of such theories is characterized by just a single parameter μ acting as an effective mass of the scalar field. Analytical expressions for the quasinormal mode frequencies of the scalar spectrum in this subfamily of theories are provided for both static and slowly rotating black holes. In both regimes comparisons to quasinormal modes calculated numerically show good agreement with those calculated analytically in this work.
Assessment of simulated aerosol effective radiative forcings in the terrestrial spectrum
NASA Astrophysics Data System (ADS)
Heyn, Irene; Block, Karoline; Mülmenstädt, Johannes; Gryspeerdt, Edward; Kühne, Philipp; Salzmann, Marc; Quaas, Johannes
2017-01-01
In its fifth assessment report (AR5), the Intergovernmental Panel on Climate Change provides a best estimate of the effective radiative forcing (ERF) due to anthropogenic aerosol at -0.9 W m-2. This value is considerably weaker than the estimate of -1.2 W m-2 in AR4. A part of the difference can be explained by an offset of +0.2 W m-2 which AR5 added to all published estimates that only considered the solar spectrum, in order to account for adjustments in the terrestrial spectrum. We find that, in the CMIP5 multimodel median, the ERF in the terrestrial spectrum is small, unless microphysical effects on ice- and mixed-phase clouds are parameterized. In the latter case it is large but accompanied by a very strong ERF in the solar spectrum. The total adjustments can be separated into microphysical adjustments (aerosol "effects") and thermodynamic adjustments. Using a kernel technique, we quantify the latter and find that the rapid thermodynamic adjustments of water vapor and temperature profiles are small. Observation-based constraints on these model results are urgently needed.
Detection of Threat Materials Using Terahertz Waveguides and Long Pathlength Terahertz Spectroscopy
2015-05-01
intramolecular modes. Therefore a complex spectrum is anticipated. In the range between 0.2 THz and 3.0 THz there have been several free space THz...narrowing. A more complex underlying spectrum is only suggested, but not resolved. A PETN layer was formed on an Au-coated PPWG surface by drop casting...structure of the analyte, or complex formation where metal ions incorporate into the lattice of the analyte. In each of these cases the resulting THz
Anisotropic magnetohydrodynamic turbulence in a strong external magnetic field
NASA Technical Reports Server (NTRS)
Montgomery, D.; Turner, L.
1981-01-01
A strong external dc magnetic field introduces a basic anisotropy into incompressible magnetohydrodynamic turbulence. The modifications that this is likely to produce in the properties of the turbulence are explored for the high Reynolds number case. The conclusion is reached that the turbulent spectrum splits into two parts: an essentially two dimensional spectrum with both the velocity field and magnetic fluctuations perpendicular to the dc magnetic field, and a generally weaker and more nearly isotropic spectrum of Alfven waves. A minimal characterization of the spectral density tensors is given. Similarities to measurements from the Culham-Harwell Zeta pinch device and the UCLA Macrotor Tokamak are remarked upon, as are certain implications for the Belcher and Davis measurements of magnetohydrodynamic turbulence in the solar wind.
Sjögren syndrome and neuromyelitis optica spectrum disorder co-exist in a common autoimmune milieu.
Carvalho, Diogo C; Tironi, Tauana S; Freitas, Denise S; Kleinpaul, Rodrigo; Talim, Natalia C; Lana-Peixoto, Marco A
2014-08-01
The relationship between Sjögren's syndrome (SS) and neuromyelitis optica spectrum disorder (NMOSD) is not completely understood. We report two patients with both conditions and review 47 other previously reported cases meeting currently accepted diagnostic criteria, from 17 articles extracted from PubMed. Out of 44 patients whose gender was informed, 42 were females. Mean age at onset of neurological manifestation was 36.2 years (10-74). Serum anti-AQP4-IgG was positive in 32 patients, borderline in 1, and negative in 4. Our Case 1 was seronegative for AQP4-IgG and had no non-organ-specific autoantibodies other than anti-SSB antibodies. Our Case 2 had serum anti-AQP4, anti-SSA/SSB, anti-thyreoglobulin and anti-acethylcholine-receptor antibodies, as well as clinical hypothyreoidism, but no evidence of myasthenia gravis. Our Cases and others, as previously reported in literature, with similar heterogeneous autoimmune response to aquaporin-4, suggest that SS and NMO co-exist in a common autoimmune milieu which is not dependent on aquaporin-4 autoimmunity.
The Early Start Denver Model: A Case Study of an Innovative Practice
ERIC Educational Resources Information Center
Vismara, Laurie A.; Rogers, Sally J.
2008-01-01
Intervention was implemented with an infant identified at 9 months of age with a behavioral profile consistent with autistic spectrum disorder. The intervention approach, the Early Start Denver model, consisted of a 12-week, 1.5-hr-per-week individualized parent-child education program. Results of this case study demonstrated that the parent…
Siano, M; Paroli, B; Chiadroni, E; Ferrario, M; Potenza, M A C
2015-12-28
We exploit the speckle field generated by scattering from a colloidal suspension to access both spatial and temporal coherence properties of broadband radiation. By applying the Wiener-Khinchine theorem to the retrieved temporal coherence function, information about the emission spectrum of the source is obtained in good agreement with the results of a grating spectrometer. Experiments have been performed with visible light. We prove more generally that our approach can be considered as a tool for modeling a variety of cases. Here we discuss how to apply such diagnostics to broad-spectrum betatron radiation produced in the laser-driven wakefield accelerator under development at SPARC LAB facility in Frascati.
ERIC Educational Resources Information Center
Hanson, Ellen; Cerban, Bettina M.; Slater, Chelsea M.; Caccamo, Laura M.; Bacic, Janine; Chan, Eugenia
2013-01-01
Currently, both the DSM-IV-TR and ICD-10 preclude the diagnosis of Attention Deficit/Hyperactivity Disorder (ADHD) in cases that present with an Autism Spectrum Disorder (ASD). This criterion will be removed in the upcoming DSM-V, but the relationship between ASD and ADHD, and in particular the prevalence of ADHD among the ASD population, remains…
Federal Research and Development Funding: FY2011
2011-03-25
malignancies, and will undertake complete genome sequencing and analysis of 300 autism spectrum disorder cases. In support of the National Nanotechnology...clinical trials by 2016. NIH’s HIV/AIDS research portfolio, covering the spectrum from basic viral research to vaccine development trials, would...cancer, heart disease, and autism , particularly over $1 billion in research applying the technology produced by the Human Genome Project.42 Table 9
ERIC Educational Resources Information Center
Rhode, Maria
2004-01-01
Two contrasting cases are discussed of boys with autistic spectrum disorder who had suffered cumulative trauma. Although their material was similar in many respects, the 9-year-old made excellent progress during therapy, while the 4-year-old developed much less in spite of being in intensive treatment. This contrast is discussed with regard to…
Sandeep, Nefthi; Slack, Michael C
2014-10-01
Coronary sinus atrial septal defects are the rarest defects of the atrial septum comprising <1% of the five different types of atrial septal defects. Despite the widespread adoption of percutaneous device closure of secundum atrial septal defects, the published experience with percutaneous device closure of coronary sinus atrial septal defects is limited to only a few isolated case reports because of uncertainty regarding safety and efficacy. Open-heart surgical repair remains the treatment of choice for coronary sinus atrial septal defects, although this may not be the only treatment option in selected cases. Herein we describe our own experience with two patients with different clinical presentations and our method of successful percutaneous coronary sinus atrial septal defect closure in each. We then present a review of the anatomic spectrum of coronary sinus atrial septal defects along with a review of contemporary surgical and percutaneous device treatment.
Large-scale structure in the Southern Sky Redshift Survey
NASA Technical Reports Server (NTRS)
Park, Changbom; Gott, J. R., III; Da Costa, L. N.
1992-01-01
The power spectrum from the Southern Sky Redshift Survey and the CfA samples are measured in order to explore the amplitude of fluctuation in the galaxy density. At lambda of less than or equal to 30/h Mpc the observed power spectrum is quite consistent with the standard CDM model. At larger scales the data indicate an excess of power over the standard CDM model. The observed power spectrum from these optical galaxy samples is in good agreement with that drawn from the sparsely sampled IRAS galaxies. The shape of the power spectrum is also studied by examining the relation between the genus per unit volume and the smoothing length. It is found that, over Gaussian smoothing scales from 6 to 14/h Mpc, the power spectrum has a slope of about -1. The topology of the galaxy density field is studied by measuring the shift of the genus curve from the Gaussian case. Over all smoothing scales studied, the observed genus curves are consistent with a random phase distribution of the galaxy density field, as predicted by the inflationary scenarios.
NASA Technical Reports Server (NTRS)
Ha, Tri T.; Pratt, Timothy
1989-01-01
The feasibility of using spread spectrum techniques to provide a low-cost multiple access system for a very large number of low data terminals was investigated. Two applications of spread spectrum technology to very small aperture terminal (VSAT) satellite communication networks are presented. Two spread spectrum multiple access systems which use a form of noncoherent M-ary FSK (MFSK) as the primary modulation are described and the throughput analyzed. The analysis considers such factors as satellite power constraints and adjacent satellite interference. Also considered is the effect of on-board processing on the multiple access efficiency and the feasibility of overlaying low data rate spread spectrum signals on existing satellite traffic as a form of frequency reuse is investigated. The use of chirp is examined for spread spectrum communications. In a chirp communication system, each data bit is converted into one or more up or down sweeps of frequency, which spread the RF energy across a broad range of frequencies. Several different forms of chirp communication systems are considered, and a multiple-chirp coded system is proposed for overlay service. The mutual interference problem is examined in detail and a performance analysis undertaken for the case of a chirp data channel overlaid on a video channel.
DNA methylation as a predictor of fetal alcohol spectrum disorder.
Lussier, Alexandre A; Morin, Alexander M; MacIsaac, Julia L; Salmon, Jenny; Weinberg, Joanne; Reynolds, James N; Pavlidis, Paul; Chudley, Albert E; Kobor, Michael S
2018-01-01
Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol syndrome. As interventions may have the greatest impact at an early age, accurate biomarkers are needed to identify children at risk for FASD. Building on our previous work identifying distinct DNA methylation patterns in children and adolescents with FASD, we have attempted to validate these associations in a different clinical cohort and to use our DNA methylation signature to develop a possible epigenetic predictor of FASD. Genome-wide DNA methylation patterns were analyzed using the Illumina HumanMethylation450 array in the buccal epithelial cells of a cohort of 48 individuals aged 3.5-18 (24 FASD cases, 24 controls). The DNA methylation predictor of FASD was built using a stochastic gradient boosting model on our previously published dataset FASD cases and controls (GSE80261). The predictor was tested on the current dataset and an independent dataset of 48 autism spectrum disorder cases and 48 controls (GSE50759). We validated findings from our previous study that identified a DNA methylation signature of FASD, replicating the altered DNA methylation levels of 161/648 CpGs in this independent cohort, which may represent a robust signature of FASD in the epigenome. We also generated a predictive model of FASD using machine learning in a subset of our previously published cohort of 179 samples (83 FASD cases, 96 controls), which was tested in this novel cohort of 48 samples and resulted in a moderately accurate predictor of FASD status. Upon testing the algorithm in an independent cohort of individuals with autism spectrum disorder, we did not detect any bias towards autism, sex, age, or ethnicity. These findings further support the association of FASD with distinct DNA methylation patterns, while providing a possible entry point towards the development of epigenetic biomarkers of FASD.
Cunsolo, Alessandro; Suvorov, Alexey; Cai, Yong Q.
2015-10-20
In this study, nearly two decades of thorough Inelastic X Ray Scattering (IXS) studies of transverse-like excitation in the spectrum simple amorphous materials are reviewed. A particular attention is given to the case of liquid water and other prototypical samples, through a discussion of both solved and still open issues. Finally, the perspectives opened up by the development of next generation IXS instruments with unprecedented contrast and resolution bandwidth are briefly illustrated.
NASA Astrophysics Data System (ADS)
Dikmese, Sener; Srinivasan, Sudharsan; Shaat, Musbah; Bader, Faouzi; Renfors, Markku
2014-12-01
Multicarrier waveforms have been commonly recognized as strong candidates for cognitive radio. In this paper, we study the dynamics of spectrum sensing and spectrum allocation functions in cognitive radio context using very practical signal models for the primary users (PUs), including the effects of power amplifier nonlinearities. We start by sensing the spectrum with energy detection-based wideband multichannel spectrum sensing algorithm and continue by investigating optimal resource allocation methods. Along the way, we examine the effects of spectral regrowth due to the inevitable power amplifier nonlinearities of the PU transmitters. The signal model includes frequency selective block-fading channel models for both secondary and primary transmissions. Filter bank-based wideband spectrum sensing techniques are applied for detecting spectral holes and filter bank-based multicarrier (FBMC) modulation is selected for transmission as an alternative multicarrier waveform to avoid the disadvantage of limited spectral containment of orthogonal frequency-division multiplexing (OFDM)-based multicarrier systems. The optimization technique used for the resource allocation approach considered in this study utilizes the information obtained through spectrum sensing and knowledge of spectrum leakage effects of the underlying waveforms, including a practical power amplifier model for the PU transmitter. This study utilizes a computationally efficient algorithm to maximize the SU link capacity with power and interference constraints. It is seen that the SU transmission capacity depends critically on the spectral containment of the PU waveform, and these effects are quantified in a case study using an 802.11-g WLAN scenario.
Charting the Parameter Space of the 21-cm Power Spectrum
NASA Astrophysics Data System (ADS)
Cohen, Aviad; Fialkov, Anastasia; Barkana, Rennan
2018-05-01
The high-redshift 21-cm signal of neutral hydrogen is expected to be observed within the next decade and will reveal epochs of cosmic evolution that have been previously inaccessible. Due to the lack of observations, many of the astrophysical processes that took place at early times are poorly constrained. In recent work we explored the astrophysical parameter space and the resulting large variety of possible global (sky-averaged) 21-cm signals. Here we extend our analysis to the fluctuations in the 21-cm signal, accounting for those introduced by density and velocity, Lyα radiation, X-ray heating, and ionization. While the radiation sources are usually highlighted, we find that in many cases the density fluctuations play a significant role at intermediate redshifts. Using both the power spectrum and its slope, we show that properties of high-redshift sources can be extracted from the observable features of the fluctuation pattern. For instance, the peak amplitude of ionization fluctuations can be used to estimate whether heating occurred early or late and, in the early case, to also deduce the cosmic mean ionized fraction at that time. The slope of the power spectrum has a more universal redshift evolution than the power spectrum itself and can thus be used more easily as a tracer of high-redshift astrophysics. Its peaks can be used, for example, to estimate the redshift of the Lyα coupling transition and the redshift of the heating transition (and the mean gas temperature at that time). We also show that a tight correlation is predicted between features of the power spectrum and of the global signal, potentially yielding important consistency checks.
Schieve, Laura A; Tian, Lin; Dowling, Nicole; Croen, Lisa; Hoover-Fong, Julie; Alexander, Aimee; Shapira, Stuart K
2018-07-01
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and 2D:4D among children in the Study to Explore Early Development; we considered case subgroups and numerous potential demographic and maternal-perinatal health confounders. We observed a modest inverse association between ASD and right-hand 2D:4D in males; subgroup analyses indicated associations were limited to ASD cases with birth defects/genetic syndromes or dysmorphic features. We observed a positive association between ASD and left-hand 2D:4D in females, overall and within most case subgroups.
[Brunners gland hiperplasia. Report of two cases].
Padilla Ruiz, Maykel
2014-04-01
Brunner's gland hyperplasia is an infrequent benign injury located on the first or second portion of the duodenum. The disease spectrum includes diffuse nodular hyperplasia, circumscribed nodular hyperplasia, and Brunner's gland adenoma. We report two cases, one with an adenoma of Brunner's glands as a duodenal polyp and the other as a diffuse nodular hyperplasia of the duodenal bulb.
Levetiracetam-induced acute psychosis in a child
Zaki, Syed Ahmed; Gupta, Saurabh
2014-01-01
Levetiracetam is well-tolerated and commonly used as a broad spectrum antiepileptic in both partial and generalized seizures. Few cases of levetiracetam-induced psychosis in children are reported in the literature. The present case of levetiracetam-induced acute psychosis highlights the adverse effect of this drug and also emphasizes the need for close monitoring of children on levetiracetam. PMID:24987186
NASA Astrophysics Data System (ADS)
Niedermayer, F.; Weisz, P.
2018-05-01
In a previous paper we found that the isospin susceptibility of the O( n) sigma-model calculated in the standard rotator approximation differs from the next-to-next-to leading order chiral perturbation theory result in terms vanishing like 1 /ℓ, for ℓ = L t /L → ∞ and further showed that this deviation could be described by a correction to the rotator spectrum proportional to the square of the quadratic Casimir invariant. Here we confront this expectation with analytic nonperturbative results on the spectrum in 2 dimensions, by Balog and Hegedüs for n = 3 , 4 and by Gromov, Kazakov and Vieira for n = 4, and find good agreement in both cases. We also consider the case of 3 dimensions.
NASA Astrophysics Data System (ADS)
Chen, Jun; Hou, Wenjie; Qiu, Taotao; Hou, Defu
2018-04-01
In our previous work [1], a new kind of inflation model was proposed, which has the interesting property that its perturbation equation of motion gets a correction of k 4, due to the non-linearity of the kinetic term. Nonetheless, the scale-invariance of the power spectrum remains valid, both in large-k and small-k limits. In this paper, we investigate in detail the spectral index, the index running and the tensor/scalar ratio in this model, especially in the potential-driven case, and compare the results with the current PLANCK/BICEP observational data. We also discuss the tensor spectrum in this case, which is expected to be tested by future observations of primordial gravitational waves. Supported by NSFC (11405069, 11653002, 11735007, 111375070)
Fast energy spectrum and transverse beam profile monitoring and feedback systems for the SLC linac
DOE Office of Scientific and Technical Information (OSTI.GOV)
Soderstrom, E.J.; Abrams, G.S.; Weinstein, A.J.
Fast energy spectrum and transverse beam profile monitoring systems have been tested at the SLC. The signals for each system are derived from digitizations of images on phosphor screens. Individual beam bunch images are digitized in the case of the transverse profile system and synchrotron radiation images produced by wiggler magnets for the energy spectrum. Measurements are taken at two-second intervals. Feedback elements have been installed for future use and consist of rf phase shifters to control energy spectrum and dipole correctors to control the beam launch into the linac affecting the transverse beam profile. Details of these systems, includingmore » hardware, timing, data acquisition, data reduction, measurement accuracy, and operational experience will be presented. 9 refs.« less
Analysis of security of optical encryption with spatially incoherent illumination technique
NASA Astrophysics Data System (ADS)
Cheremkhin, Pavel A.; Evtikhiev, Nikolay N.; Krasnov, Vitaly V.; Rodin, Vladislav G.; Shifrina, Anna V.
2017-03-01
Applications of optical methods for encryption purposes have been attracting interest of researchers for decades. The first and the most popular is double random phase encoding (DRPE) technique. There are many optical encryption techniques based on DRPE. Main advantage of DRPE based techniques is high security due to transformation of spectrum of image to be encrypted into white spectrum via use of first phase random mask which allows for encrypted images with white spectra. Downsides are necessity of using holographic registration scheme in order to register not only light intensity distribution but also its phase distribution, and speckle noise occurring due to coherent illumination. Elimination of these disadvantages is possible via usage of incoherent illumination instead of coherent one. In this case, phase registration no longer matters, which means that there is no need for holographic setup, and speckle noise is gone. This technique does not have drawbacks inherent to coherent methods, however, as only light intensity distribution is considered, mean value of image to be encrypted is always above zero which leads to intensive zero spatial frequency peak in image spectrum. Consequently, in case of spatially incoherent illumination, image spectrum, as well as encryption key spectrum, cannot be white. This might be used to crack encryption system. If encryption key is very sparse, encrypted image might contain parts or even whole unhidden original image. Therefore, in this paper analysis of security of optical encryption with spatially incoherent illumination depending on encryption key size and density is conducted.
NASA Astrophysics Data System (ADS)
Wang, X.; Wu, H.; Tu, C. Y.; Wang, L.; He, J.; Tian, H.
2017-12-01
Sunward-propagating Alfvénic fluctuations with a power-law spectrum (SAFP) have been recently reported to be a significant physical phenomenon in the solar wind. However, some characteristics of these SAFPs are still unknown. Here we develop a new method for identifying SAFPs. In this method, we can identify all SAFPs with any value of θRB (angle between the global magnetic field and the radial direction). We find 508 SAFPs using the WIND spacecraft observation from 1995 to 2014. We also find that SAFP occurs more frequently when θRB equals 90°. The spectral index with an average -1.77 changes continuously from -2.18 for the parallel to -1.71 for the perpendicular. SAFPs occur more at the maximum and tend to be observed in the slow solar wind especially at solar minimum. We also apply the new method to identify anti-sunward-propagating Alfvénic fluctuations with a power-law spectrum (AFP) for comparison. The number of SAFPs is much less than AFPs, and the cases with local bending account for about half of all observed cases. SAFPs have a preference for negative σc and ASFs for positive. The statistical results demonstrate that SAFP has a steeper and weaker power spectrum and present a weaker power anisotropy than that of AFP. These new results may reveal new insight into the physical mechanism of the SAFP generation.
Testing inflation and curvaton scenarios with CMB distortions
NASA Astrophysics Data System (ADS)
Clesse, Sébastien; Garbrecht, Björn; Zhu, Yi
2014-10-01
Prior to recombination, Silk damping causes the dissipation of energy from acoustic waves into the monopole of the Cosmic Microwave Background (CMB), resulting in spectral distortions. These can be used to probe the primordial scalar power spectrum on smaller scales than it is possible with CMB anisotropies. An enhancement of power on these scales is nevertheless required for the resulting distortions to be detectable by future experiments like PIXIE. In this paper, we examine all 49 single-field inflation models listed by Martin et al. in the Encyclopaedia Inflationaris [1] and find that only one of these may lead to a detectable level of distortions in a tuned region of its parameter space, namely the original hybrid model. Three effective multi-field scenarios are also studied: with softly and suddenly turning trajectories, and with a mild waterfall trajectory. Softly turning trajectories do not induce distortions at any detectable level, whereas a sudden turn in the field space or a mild waterfall trajectory predicts a peak (plus damped oscillations in the sudden turn case) in the scalar power spectrum, which can lead to an observable amount of CMB distortions. Finally, another scenario leading to potentially detectable distortions involves a curvaton whose blue spectrum is subdominant on CMB angular scales and overtakes the inflaton spectrum on smaller scales. In this case however, we show that the bounds from ultra compact minihaloes are not satisfied. Expectations for an ultimate PRISM-class experiment characterized by an improvement in sensitivity by a factor of ten are discussed for some models.
Noise and interference study for satellite lightning sensor
NASA Technical Reports Server (NTRS)
Herman, J. R.
1981-01-01
The use of radio frequency techniques for the detection and monitoring of terrestrial thunderstorms from space are discussed. Three major points are assessed: (1) lightning and noise source characteristics; (2) propagation effects imposed by the atmosphere and ionosphere; and (3) the electromagnetic environment in near space within which lightning RF signatures must be detected. A composite frequency spectrum of the peak of amplitude from lightning flashes is developed. Propagation effects (ionospheric cutoff, refraction, absorption, dispersion and scintillation) are considered to modify the lightning spectrum to the geosynchronous case. It is suggested that in comparing the modified spectrum with interfering noise source spectra RF lightning pulses on frequencies up to a few GHz are detectable above the natural noise environment in near space.
Excitation spectrum and staggering transformations in lattice quantum models.
Faria da Veiga, Paulo A; O'Carroll, Michael; Schor, Ricardo
2002-08-01
We consider the energy-momentum excitation spectrum of diverse lattice Hamiltonian operators: the generator of the Markov semigroup of Ginzburg-Landau models with Langevin stochastic dynamics, the Hamiltonian of a scalar quantum field theory, and the Hamiltonian associated with the transfer matrix of a classical ferromagnetic spin system at high temperature. The low-lying spectrum consists of a one-particle state and a two-particle band. The two-particle spectrum is determined using a lattice version of the Bethe-Salpeter equation. In addition to the two-particle band, depending on the lattice dimension and on the attractive or repulsive character of the interaction between the particles of the system, there is, respectively, a bound state below or above the two-particle band. We show how the existence or nonexistence of these bound states can be understood in terms of a nonrelativistic single-particle lattice Schrödinger Hamiltonian with a delta potential. A staggering transformation relates the spectra of the attractive and the repulsive cases.
Automatic energy calibration algorithm for an RBS setup
DOE Office of Scientific and Technical Information (OSTI.GOV)
Silva, Tiago F.; Moro, Marcos V.; Added, Nemitala
2013-05-06
This work describes a computer algorithm for automatic extraction of the energy calibration parameters from a Rutherford Back-Scattering Spectroscopy (RBS) spectrum. Parameters like the electronic gain, electronic offset and detection resolution (FWHM) of a RBS setup are usually determined using a standard sample. In our case, the standard sample comprises of a multi-elemental thin film made of a mixture of Ti-Al-Ta that is analyzed at the beginning of each run at defined beam energy. A computer program has been developed to extract automatically the calibration parameters from the spectrum of the standard sample. The code evaluates the first derivative ofmore » the energy spectrum, locates the trailing edges of the Al, Ti and Ta peaks and fits a first order polynomial for the energy-channel relation. The detection resolution is determined fitting the convolution of a pre-calculated theoretical spectrum. To test the code, data of two years have been analyzed and the results compared with the manual calculations done previously, obtaining good agreement.« less
A spread-spectrum modem using constant envelope BPSK for a mobile satellite communications terminal
NASA Technical Reports Server (NTRS)
Iizuka, N.; Yamashita, A.; Takenaka, S.; Morikawa, E.; Ikegami, T.
1990-01-01
This paper describes a 5-kilobit/s spread spectrum modem with a 1.275 mega-Hz chip rate for mobile satellite communications. We used a Viterbi decoder with a coding gain of 7.8 dB at a BER of 10(exp -5) to decrease the required receiver power. This reduces the cost of communication services. The spread spectrum technique makes the modem immune to terrestrial radio signals and keeps it from causing interference in terrestrial radio systems. A class C power amplifier reduces the modem's power consumption. To avoid nonlinear distortion caused by the amplifier, the envelope of the input signal is kept constant by adding quadrature channel signal to the BPSK signal. To simulate the worst case, we measured the modem's output spectrum using a limiting amplifier instead of the class C amplifier, and found that 99 percent of the spectral power was confined to the specified 2.55 mega-Hz bandwidth.
Badrakh, Jugderjav; Zayasaikhan, Setsen; Jagdagsuren, Davaalkham; Enkhbat, Erdenetungalag; Jadambaa, Narantuya; Munkhbaatar, Sergelen; Taylor, Melanie; Rowley, Jane; Mahiané, Guy
2017-01-01
Objective To estimate Mongolia’s prevalence and incidence trends of gonorrhoea and chlamydia in women and men 15–49 years old to inform control of STIs and HIV, a national health sector priority. Methods We applied the Spectrum-STI estimation model, fitting data from two national population surveys (2001 and 2008) and from routine gonorrhoea screening of pregnant women in antenatal care (1997 to 2016) adjusted for diagnostic test performance, male/female differences and missing high-risk populations. Prevalence and incidence estimates were then used to assess completeness of national case reporting. Results Gonorrhoea prevalence was estimated at 3.3% (95% confidence interval, 1.6–3.9%) in women and 2.9% (1.6–4.1%) in men in 2016; chlamydia prevalence levels were 19.5% (17.3–21.9%) and 15.6% (10.0–21.2%), respectively. Corresponding new incident cases in women and men in 2016 totalled 60 334 (36 147 to 121 933) and 76 893 (35 639 to 254 913) for gonorrhoea and 131 306 (84 232 to 254 316) and 148 162 (71 885 to 462 588) for chlamydia. Gonorrhoea and chlamydia prevalence declined by an estimated 33% and 11%, respectively from 2001 to 2016. Comparing numbers of symptomatic and treated cases estimated by Spectrum with gonorrhoea case reports suggests that 15% of symptomatic treated gonorrhoea cases were reported in 2016; only a minority of chlamydia episodes were reported as male urethral discharge cases. Discussion Gonorrhoea and chlamydia prevalence are estimated to have declined in Mongolia during the early 2000s, possibly associated with syndromic management in primary care facilities and improving treatment coverage since 2001 and scale up of HIV/STI prevention interventions since 2003. However, prevalence remains high with most gonorrhoea and chlamydia cases not treated or recorded in the public health system. PMID:29487760
Large-scale structure in mimetic Horndeski gravity
NASA Astrophysics Data System (ADS)
Arroja, Frederico; Okumura, Teppei; Bartolo, Nicola; Karmakar, Purnendu; Matarrese, Sabino
2018-05-01
In this paper, we propose to use the mimetic Horndeski model as a model for the dark universe. Both cold dark matter (CDM) and dark energy (DE) phenomena are described by a single component, the mimetic field. In linear theory, we show that this component effectively behaves like a perfect fluid with zero sound speed and clusters on all scales. For the simpler mimetic cubic Horndeski model, if the background expansion history is chosen to be identical to a perfect fluid DE (PFDE) then the mimetic model predicts the same power spectrum of the Newtonian potential as the PFDE model with zero sound speed. In particular, if the background is chosen to be the same as that of LCDM, then also in this case the power spectrum of the Newtonian potential in the mimetic model becomes indistinguishable from the power spectrum in LCDM on linear scales. A different conclusion may be found in the case of non-adiabatic perturbations. We also discuss the distinguishability, using power spectrum measurements from LCDM N-body simulations as a proxy for future observations, between these mimetic models and other popular models of DE. For instance, we find that if the background has an equation of state equal to ‑0.95 then we will be able to distinguish the mimetic model from the PFDE model with unity sound speed. On the other hand, it will be hard to do this distinction with respect to the LCDM model.
The association between prune belly syndrome and dental anomalies: a case report
2012-01-01
Background Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. Case presentation The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. Conclusion This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions. PMID:23249412
The generalized anxiety spectrum: prevalence, onset, course and outcome.
Angst, Jules; Gamma, Alex; Baldwin, David S; Ajdacic-Gross, Vladeta; Rössler, Wulf
2009-02-01
Generalized anxiety disorder (GAD) is generally considered to be a chronic condition, waxing and waning in severity; however prospective investigation of the course of GAD in community samples is lacking. This study seeks to fill that gap, by identifying the whole spectrum of generalized anxiety syndromes, sub-typing them according to their duration and frequency of occurrence, and evaluating their long-term course and outcome in the community. The prospective Zurich Study assessed psychiatric and somatic syndromes in a community sample of young adults (N = 591) (aged 20 years at first interview) by six interviews over a period of 20 years (1979-1999). GAD syndromes were defined by DSM-III symptom criteria without applying any exclusion criteria. A spectrum of generalized anxiety was defined by duration: 6 months (DSM-IV), 1 month (DSM-III), < or = 2 weeks (with weekly occurrence over one year), and anxiety symptoms. From 1978 (screening) to 1999 the annual presence of symptoms and treatment was assessed. Persistence of anxiety was defined by the almost daily presence of symptoms over the previous 12 months. The annual incidence of DSM-III GAD increased considerably between the ages of 20 and 40. The average age of onset of symptoms was 15.6 years; in 75% of cases it occurred before the age of 20. 75 of 105 DSM-III GAD cases had at least one follow-up. At their individual last follow-up, 12 of those 75 subjects (16%) were re-diagnosed as having GAD, 22 (29%) manifested subthreshold syndromes or anxiety symptoms, while 39 cases, the majority, (52%) were symptom-free; 5 of the 12 re-diagnosed GAD cases were persistent (corresponding to 7% of all 75 initial GAD cases). In their twenties they were treated at some time in 6% of all years, but in their thirties this figure rose to 12%. At their individual last follow-up 26% of 6-month GAD subjects and 22% of 1-month GAD subjects were still being treated. Treated vs. non-treated subjects did not differ in terms of gender but did differ in severity, persistence and in comorbidity with bipolar-II disorder, social phobia, obsessive-compulsive syndromes and substance-use disorders. Results are based on a relatively small sample and cannot be generalized to adults aged over 40 years. The course of DSM-III-defined GAD may not be chronic, as previously suggested, but mainly recurrent with intervening symptom-free periods of recovery in about half of cases. Over a period of 20 years there was more improvement than progression within the anxiety spectrum.
Pointwise regularity of parameterized affine zipper fractal curves
NASA Astrophysics Data System (ADS)
Bárány, Balázs; Kiss, Gergely; Kolossváry, István
2018-05-01
We study the pointwise regularity of zipper fractal curves generated by affine mappings. Under the assumption of dominated splitting of index-1, we calculate the Hausdorff dimension of the level sets of the pointwise Hölder exponent for a subinterval of the spectrum. We give an equivalent characterization for the existence of regular pointwise Hölder exponent for Lebesgue almost every point. In this case, we extend the multifractal analysis to the full spectrum. In particular, we apply our results for de Rham’s curve.
Properties of centralized cooperative sensing in cognitive radio networks
NASA Astrophysics Data System (ADS)
Skokowski, Paweł; Malon, Krzysztof; Łopatka, Jerzy
2017-04-01
Spectrum sensing is a functionality that enables network creation in the cognitive radio technology. Spectrum sensing is use for building the situation awareness knowledge for better use of radio resources and to adjust network parameters in case of jamming, interferences from legacy systems, decreasing link quality caused e.g. by nodes positions changes. This paper presents results from performed tests to compare cooperative centralized sensing versus local sensing. All tests were performed in created simulator developed in Matlab/Simulink environment.
Arroyo, M R; Green, D M; Perlman, E J; Beckwith, J B; Argani, P
2001-04-01
The authors report nine new metanephric adenofibroma (MAFs; previously termed nephrogenic adenofibroma) and 16 related tumors from the files of the National Wilms Tumor Study Group Pathology Center (NWTSGPC). All tumors contained a variable amount of a bland spindle cell stroma, which is essentially identical to the recently described metanephric stromal tumor (MST). Features that distinguish this stroma from congenital mesoblastic nephroma (CMN) include intratumoral angiodysplasia, concentric cuffing of entrapped tubules ("onion skinning"), and heterologous differentiation. The epithelial components of these lesions spanned a wide range of appearances. All tumors contained at least focally an inactive embryonal epithelium identical morphologically to metanephric adenoma (MA), and hence each case could be classified as containing MAF. The epithelium of nine tumors had this appearance throughout, and hence these were considered usual MAFs. The epithelium of four tumors demonstrated increased mitotic activity but was otherwise similar to MA. The epithelial component of seven tumors spanned a morphologic spectrum from inactive MA to malignant epithelial predominant Wilms tumor (WT), with gradual transitions noted in several cases. Five other tumors contained a carcinomatous component distinct from these lesions but identical morphologically to papillary renal cell carcinoma (PRCC). In one of these cases, this component had metastasized to the regional lymph nodes at the time of diagnosis. No tumor recurred during follow-up, although almost all patients received adjuvant therapy for WT regardless of their tumor's histology and NWTSGPC diagnosis. In conclusion, MAF is a biphasic tumor that spans the morphologic spectrum between benign pure stromal (MST) and pure epithelial (MA) lesions, and can merge with the morphology of WT, supporting the concept that these are all related lesions. A relationship to PRCC is also evident.
Federal Research and Development Funding: FY2011
2010-12-07
sequencing and analysis of 300 autism spectrum disorder cases. In support of the National Nanotechnology Initiative, NIH is requesting an increase of...research portfolio, covering the spectrum from basic viral research to vaccine development trials, would increase 3.2% to about $3.2 billion in FY2011...highlighted examples of research in cancer, heart disease, and autism , particularly over $1 billion in research applying the technology produced by the
Manjila, Sunil; Miller, Erin A.; Vadera, Sumeet; Goel, Rishi K.; Khan, Fahd R.; Crowe, Carol; Geertman, Robert T.
2012-01-01
Background: Duplication of the pituitary gland (DPG) is a rare craniofacial developmental anomaly occurring during blastogenesis with postulated etiology such as incomplete twinning, teratogens, median cleft face syndrome or splitting of the notochord. The complex craniocaudal spectrum of blastogenesis defects associated with DPG is examined with an illustrative case. Case Description: We report for the first time in the medical literature some unique associations with DPG, such as a clival encephalocele, third cerebral peduncle, duplicate odontoid process and a double tongue with independent volitional control. This patient also has the previously reported common associations such as duplicated sella, cleft palate, hypertelorism, callosal agenesis, hypothalamic enlargement, nasopharyngeal teratoma, fenestrated basilar artery and supernumerary teeth. This study also reviews 37 cases of DPG identified through MEDLINE literature search from 1880 to 2011. It provides a detailed analysis of the current case through physical examination and imaging. Conclusion: The authors propose that the developmental deformities associated with duplication of pituitary gland (DPG) occur as part of a developmental continuum, not as chance associations. Considering the fact that DPG is uniquely and certainly present throughout the spectrum of these blastogenesis defects, we suggest the term DPG-plus syndrome. PMID:22439114
ERIC Educational Resources Information Center
Towgood, Karren J.; Meuwese, Julia D. I.; Gilbert, Sam J.; Turner, Martha S.; Burgess, Paul W.
2009-01-01
In the neuropsychological case series approach, tasks are administered that tap different cognitive domains, and differences within rather than across individuals are the basis for theorising; each individual is effectively their own control. This approach is a mainstay of cognitive neuropsychology, and is particularly suited to the study of…
Single-Case Analysis to Determine Reasons for Failure of Behavioral Treatment via Telehealth
ERIC Educational Resources Information Center
Schieltz, Kelly M.; Romani, Patrick W.; Wacker, David P.; Suess, Alyssa N.; Huang, Pei; Berg, Wendy K.; Lindgren, Scott D.; Kopelman, Todd G.
2018-01-01
Functional communication training (FCT) is a widely used and effective function-based treatment for problem behavior. The purpose of this article is to present two cases in which FCT was unsuccessful in reducing the occurrence of problem behavior displayed by two young children with an autism spectrum disorder. Both children received the same…
ERIC Educational Resources Information Center
Bowman, Mary Lynne, Ed.; Disinger, John F., Ed.
Contained are 25 descriptions of teacher education programs for environmental education offered by colleges and universities in the United States. These programs were identified on the basis of recommendations from specialists in the state education agencies and reflect a broad spectrum of approaches and emphases. The case studies include: (1)…
How good is μ- τ symmetry after results on non-zero θ 13?
NASA Astrophysics Data System (ADS)
Gupta, Shivani; Joshipura, Anjan S.; Patel, Ketan M.
2013-09-01
Viability of the μ- τ interchange symmetry imposed as an approximate symmetry (1) on the neutrino mass matrix in the flavour basis (2) simultaneously on the charged lepton mass matrix M l and the neutrino mass matrix M ν and (3) on the underlying Lagrangian is discussed in the light of recent observation of a non-zero reactor mixing angle θ 13. In case (1), μ- τ symmetry breaking may be regarded as small (less than 20-30%) only for the inverted or quasidegenerate neutrino mass spectrum and the normal hierarchy would violate it by a large amount. The case (2) is more restrictive and the requirement of relatively small breaking allows only the quasidegenerate spectrum. If neutrinos obtain their masses from the type-I seesaw mechanism then small breaking of the μ- τ symmetry in the underlying Lagrangian may result in a large breaking in and even the hierarchical neutrino spectrum may also be consistent with mildly broken μ- τ symmetry of the Lagrangian. Neutrinoless double beta decay provides a good means of distinguishing above scenarios. In particular, non-observation of signal in future experiments such as GERDA would rule out scenarios (1) and (2).
Mack, Axel; Pfeiffer, Christiane; Schneider, E. Marion; Bechter, Karl
2017-01-01
We observed a case over 25 years of relapsing–remitting schizophrenic spectrum disorder, varying regarding the main symptomatology between more depressive or more schizoaffective or rather typical schizophrenic syndrome. Diseased phases were repeatedly accompanied by minor skin lesions, which were initially classified as mixed tissue disorder. Psychotic phases were waxing–waning over years. During one later relapse, skin involvement was severe, classified to likely represent an allergic reaction to psychopharmaca; this generalized exanthema remitted rapidly with cortisone treatment and azathioprine. Under continued azathioprine and low dose neuroleptics, the patient remitted completely, appearing psychiatrically healthy for 16 years. When azathioprine was set off due to pregnancy, an extraordinary severe relapse of schizophrenia like psychosis accompanied by most severe skin lesions developed within a few weeks, then requiring 2 years of psychiatric inpatient treatment. Finally, a diagnosis of systemic lupus erythematodes plus neuropsychiatric lupus was made. A single CSF sample in 2013 showed suspicious biomarkers, matching with CSF cytokine profiling in schizophrenic and affective spectrum disorder patients and indicated mild neuroinflammation. Complex immune suppressive treatment was reinitiated short after relapse, but was only partially successful. However, surprisingly the psychosis and skin lesions remitted (in parallel) when belimumab was given (add-on). The very details of this complicated, long-term disease course are discussed also with regard to general ideas, in particular with respect to the question if this case of seemingly comorbid schizophrenia with minor autoimmunity signs represented a case of one emerging autoimmune disorder with variant manifestations systemically and within the CNS, though atypically with predominant appearance as a schizophrenia spectrum disorder. PMID:28798699
Tuberculin skin testing: Spectrum of adverse reactions.
Praveen, Ramar; Bahuguna, Amit; Dhadwal, Bhumesh Singh
2015-01-01
Tuberculin skin testing (TST) is one of the primary diagnostic modalities recommended by the World Health Organization (WHO) and the National Institute for Health and Care Excellence (NICE) study conducted in the United Kingdom (UK) for diagnosing tuberculosis (TB). Even after acceptance as a diagnostic modality and stern standardization, TST has its own flaws that include a spectrum of adverse reactions. We report a series of cases with a spectrum of adverse reactions occurring with a higher frequency than present in the available evidence. The study has some demerits such as being a retrospective one with interobserver variation and lack of histopathological confirmation. The observation is presented to accentuate the fact that adverse reactions are not a rarity and that further studies are required to establish the cause and exact incidence of the same.
ERIC Educational Resources Information Center
Davis, Louanne W.; Lysaker, Paul H.
2005-01-01
While much attention has been paid to how CBT can address symptoms in schizophrenia spectrum disorders, less is known about how it might be applied to target psychosocial dysfunction. This case study describes the treatment of a man with schizophrenia over a 6-month period using the Indianapolis Vocational Intervention Protocol (IVIP). The IVIP…
The association between prune belly syndrome and dental anomalies: a case report.
Basso, Maria Daniela; Favretto, Carla Oliveira; Cunha, Robson Frederico
2012-12-18
Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.
Analysis of writing inks on paper using direct analysis in real time mass spectrometry.
Jones, Roger W; McClelland, John F
2013-09-10
Ink analysis is central to questioned document examination. We applied direct analysis in real time mass spectrometry (DART MS) to ballpoint, gel, and fluid writing ink analysis. DART MS acquires the mass spectrum of an ink while it is still on a document without altering the appearance of the document. Spectra were acquired from ink on a variety of papers, and the spectrum of the blank paper could be subtracted out to produce a cleanly isolated ink spectrum in most cases. Only certain heavy or heavily processed papers interfered. The time since an ink is written on paper has a large effect on its spectrum. DART spectra change radically during the first few months after an ink is written as the more volatile components evaporate, but the spectra stabilize after that. A library-search study involving 166 well-aged inks assessed the ability to identify inks from their DART spectra. The aggregate success rate was 92%. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Ivanova, N I; Peksheva, O Iu
2009-03-01
A possibility of simultaneously detecting specific antibodies to HIV-1 and HIV-2 by enzyme immunoassay (EIA) at lower concentrations than those by immunoblotting (IB), and well as an additional possibility of earlier diagnosis of HIV infection, by identifying the HIV-1 antigen p24 lay the foundation of the "DS-EIA-HIV-AB-AG-SPECTRUM" test system made by OOO "Research-and-Production Association "Diagnosticheskiye Sistemy" (Diagnostic Systems). These peculiarities were compared with those of IB at a number of laboratories of AIDS prevention and control centers in the Volga Federal District, by using native serum/plasma samples and a specially designed control panel. The analysis of the conducted studies to identify HIV-1 and HIV-2 antibodies and HIV-1 antigen p24 in 65 plasma/serum samples in the "DS-EIA-HIV-AB-AG-SPECTRUM" and "LIA-HIV-1/2" (OOO "Niarmedik plus") test systems while confirming the positive result indicated agreement in 57 (87.7%) cases. The diagnostic possibilities of the "DS-EIA-HIV-AB-AG-SPECTRUM" test system versus the "New Lav-Blot I" one to make a laboratory diagnosis of HIV infection were studied. Irrefragable answers as to the availability of HIV-1 markers in the study serum samples on the enciphered panel were provided by IB in 73.3% of cases and EIA in 92%.
Genotype and phenotype spectrum of NRAS germline variants.
Altmüller, Franziska; Lissewski, Christina; Bertola, Debora; Flex, Elisabetta; Stark, Zornitza; Spranger, Stephanie; Baynam, Gareth; Buscarilli, Michelle; Dyack, Sarah; Gillis, Jane; Yntema, Helger G; Pantaleoni, Francesca; van Loon, Rosa LE; MacKay, Sara; Mina, Kym; Schanze, Ina; Tan, Tiong Yang; Walsh, Maie; White, Susan M; Niewisch, Marena R; García-Miñaúr, Sixto; Plaza, Diego; Ahmadian, Mohammad Reza; Cavé, Hélène; Tartaglia, Marco; Zenker, Martin
2017-06-01
RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). A small number of RASopathy cases with disease-causing germline NRAS alterations have been reported. Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS. Importantly, four of them harbored missense changes affecting Gly12, which was previously described to occur exclusively in cancer. The phenotype in our cohort was variable but well within the RASopathy spectrum. Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots.
2011-01-01
Introduction Autism is a complex neurodevelopmental disorder in which the interactions of genetic, epigenetic and environmental influences are thought to play a causal role. In humans, throughout embryonic and fetal life, brain development is exquisitely susceptible to injury caused by exposure to toxic chemicals present in the environment. Although the use of herbal supplements during pregnancy is relatively common, little information is available on their association with fetal neurodevelopment. This is, to the best of our knowledge, the first report in the literature to associate a new plausible mechanism of neurodevelopmental toxicity with a case of autism spectrum disorder through a vitamin deficiency potentiated by concomitant use of herbal supplements and ethanol exposure. Case presentation We describe the pediatric environmental history of a three-year-old Caucasian girl with an autism spectrum disorder. We utilized her pediatric environmental history to evaluate constitutional, genetic, and environmental factors pertinent to manifestation of neurodevelopment disorders. Both parents reported prenatal exposure to several risk factors of interest. A year prior to conception the mother began a weight loss diet and ingested 1200 mg/day of 'horsetail' (Equisetum arvense) herbal remedies containing thiaminase, an enzyme that with long-term use can lead to vitamin deficiency. The mother reported a significant weight loss during the pregnancy and a deficiency of B-complex vitamins. Thiamine (vitamin B1) deficiency could have been potentiated by the horsetail's thiaminase activity and ethanol exposure during pregnancy. No other risk factors were identified. Conclusions A detailed and careful pediatric environmental history, which includes daily intake, herbal remedies and ethanol exposure, should be obtained from all patients with autism spectrum disorder. Maternal consumption of ethanol and of herbal supplements with suspected or potential toxicity should be avoided during pregnancy. The prospective parents should perform preconception planning before pregnancy. PMID:21453474
Evaporation Spectrum of Black Holes from a Local Quantum Gravity Perspective.
Barrau, Aurélien
2016-12-30
We revisit the hypothesis of a possible line structure in the Hawking evaporation spectrum of black holes. Because of nonperturbative quantum gravity effects, this would take place arbitrarily far away from the Planck mass. We show, based on a speculative but consistent hypothesis, that this naive prediction might in fact hold in the specific context of loop quantum gravity. A small departure from the ideal case is expected for some low-spin transitions and could allow us to distinguish several quantum gravity models. We also show that the effect is not washed out by the dynamics of the process, by the existence of a mass spectrum up to a given width, or by the secondary component induced by the decay of neutral pions emitted during the time-integrated evaporation.
NASA Astrophysics Data System (ADS)
Stepanov, F. I.
2018-04-01
The mechanical properties of a material which is modeled by an exponential creep kernel characterized by a spectrum of relaxation and retardation times are studied. The research is carried out considering a contact problem for a solid indenter sliding over a viscoelastic half-space. The contact pressure, indentation depth of the indenter, and the deformation component of the friction coefficient are analyzed with respect to the case of half-space material modeled by single relaxation and retardation times.
Learning to Mow Grass: IDF Adaptations to Hybrid Threats
2017-05-25
lie on a spectrum from tactical techniques to wholesale paradigm shift.7 This study examines military adaptations in the case of the Israeli Defense...against the hybrid threat in three case studies spanning the Second Lebanon War in 2006, Operation Cast Lead in 2008, and Operation Protective Edge in...hybrid threat in three case studies spanning the Second Lebanon War in 2006, Operation Cast Lead in 2008, and Operation Protective Edge in 2014. The
Joubert syndrome with autism in two siblings: A rare presentation.
Raghavan, D Vijaya; Doshi, V Vimal; Nambi, Shanthi
2016-01-01
Joubert syndrome is a rare autosomal recessive disorder with partial or complete agenesis of cerebellar vermis. This syndrome is identified mainly by the presence of molar tooth sign in magnetic resonance imaging of the brain since it has a varied phenotypic presentation. Of the 200 cases reported so far in the literature, only three reports show the presence of autistic symptoms in siblings suggesting a link between the cerebellar vermis and autistic spectrum disorders. In this case report of two siblings, the female child satisfied the criterion for autistic spectrum disorder in accordance with Diagnostic and Statistical Manual of Mental Disorders Fifth Editon. The boy showed developmental delay with autistic features (not amounting to diagnostic threshold). This report is important in that it adds evidence to the literature that abnormalities of cerebellum are involved in the cognitive development and autistic symptoms.
Saito, Shinnosuke; Yamaga, Kuniaki; Kobayashi, Toshiyuki; Kato, Satoshi
2011-01-01
We report the case of an adolescent male who presented with mutism, immobility, catalepsy, and mannerisms. The patient was admitted to our hospital with suspected catatonic schizophrenia; however, he was subsequently diagnosed with catatonia due to Asperger's disorder. The patient was a 16-year-old male. More than six months before presentation, his grandfather displayed bizarre and violent behavior. Subsequently, he began to experience catatonia, which eventually led to hospitalization. Treatment with diazepam improved his condition and, as no causal disorders other than Asperger's disorder were identified, he was diagnosed with catatonia. The patient had experienced persistent abuse by his mother during childhood; therefore, it is important to consider reactive attachment disorder (DSM-IV-TR) as a differential diagnosis. Among child and adolescent psychiatrists, catatonia is considered to occur at a high frequency among patients with autistic spectrum disorders. In contrast, general psychiatrists tend to consider catatonia as related to schizophrenia, which may be the reason why the diagnosis of our patient was difficult. We assume that the pathogenesis of catatonia in this case was death mimicry due to the subjective perception of a life-threatening situation. For the treatment of catatonia with autistic spectrum disorders, the efficacy of benzodiazepines and electroconvulsive therapy has been established. When a patient with an autistic spectrum disorder presents with motor functional disturbances, it is important to consider these disturbances as catatonia. Furthermore, it is also important to begin the treatment mentioned above even in the presence of definite psychogenic or situational factors.
Autism spectrum disorder symptoms in infants with fragile X syndrome: A prospective case series
Hogan, Abigail L.; Caravella, Kelly E.; Ezell, Jordan; Rague, Lisa; Hills, Kimberly; Roberts, Jane E.
2017-01-01
No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD. Repetitive behaviors and cognitive and adaptive impairments are present in all FXS infants throughout development, suggesting that these deficits reflect the general FXS phenotype and not ASD in FXS specifically. PMID:28281129
On the total bandwidth for the rational Harper's equation
NASA Astrophysics Data System (ADS)
Helffer, Bernard; Kerdelhué, Phillippe
1995-10-01
In the last years several contributions have been done around the total bandwidth of the spectrum for the Harper's operator. In particular an interesting conjecture has been proposed by Thouless which gives also strong convincing arguments for the proof in special cases. On the other hand, in the study of the Cantor structure of the spectrum, B. Helffer and J. Sjöstrand have justified an heuristic semiclassical approach proposed by M. Wilkinson. The aim of this article is to explain how one can use the first step of this approach to give a rigorous semi-classical proof of the Thouless formula in some of the simplest cases. We shall also indicate how one can hope with more effort to prove rigorously recent results of Last and Wilkinson on the same conjecture.
Twomey, Conal; O'Connell, Helen; Lillis, Mary; Tarpey, Sarah Louise; O'Reilly, Gary
2018-03-01
The fifth edition of the Stanford-Binet Intelligence scales allows 'full scale' IQ (FSIQ) to be estimated using an abridged version of the test-the abbreviated battery IQ (ABIQ). Set within a public early intervention team service, the current cross-sectional study investigated the utility of the ABIQ in estimating FSIQ for 40 children with autism spectrum disorder (ASD) aged 3-5 years. A strong ABIQ-FSIQ association was yielded (r = 0.89; r 2 = 0.808) and the ABIQ did not over-estimate mean FSIQ above a clinically-relevant threshold; however, clinically significant over-estimation occurred in 17.5% of individual cases. While the findings provide support for the utility of the ABIQ in estimating FSIQ for young children with ASD, caution relating to the over-estimation of FSIQ is warranted. Careful clinical judgment-ideally based on examination of previous cognitive assessment results (if available), thorough interactional observations, and close multi-disciplinary consultation-is necessary to determine the applicability of the ABIQ to individual cases. Autism Res 2018, 11: 503-508. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. We investigated the utility of a shortened version of the Stanford-Binet Intelligence Scales in estimating IQ for 40 young children with autism spectrum disorder (ASD). The findings provide qualified support for the instrument: acceptably accurate IQ estimation was achieved for most cases; but not so for a sizeable minority (17.5%). Careful clinical judgment is necessary to determine the applicability of the ABIQ to individual cases. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Manjila, Sunil; Miller, Erin A; Vadera, Sumeet; Goel, Rishi K; Khan, Fahd R; Crowe, Carol; Geertman, Robert T
2012-01-01
Duplication of the pituitary gland (DPG) is a rare craniofacial developmental anomaly occurring during blastogenesis with postulated etiology such as incomplete twinning, teratogens, median cleft face syndrome or splitting of the notochord. The complex craniocaudal spectrum of blastogenesis defects associated with DPG is examined with an illustrative case. We report for the first time in the medical literature some unique associations with DPG, such as a clival encephalocele, third cerebral peduncle, duplicate odontoid process and a double tongue with independent volitional control. This patient also has the previously reported common associations such as duplicated sella, cleft palate, hypertelorism, callosal agenesis, hypothalamic enlargement, nasopharyngeal teratoma, fenestrated basilar artery and supernumerary teeth. This study also reviews 37 cases of DPG identified through MEDLINE literature search from 1880 to 2011. It provides a detailed analysis of the current case through physical examination and imaging. The authors propose that the developmental deformities associated with duplication of pituitary gland (DPG) occur as part of a developmental continuum, not as chance associations. Considering the fact that DPG is uniquely and certainly present throughout the spectrum of these blastogenesis defects, we suggest the term DPG-plus syndrome.
Rutherford, Marion; McKenzie, Karen; Johnson, Tess; Catchpole, Ciara; O'Hare, Anne; McClure, Iain; Forsyth, Kirsty; McCartney, Deborah; Murray, Aja
2016-07-01
This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred cohort is lower than anticipated in some age groups and reduces with increasing age. The gender ratio in children, together with the significant difference in the mean age of referral and diagnosis for girls compared to boys, adds evidence of delayed recognition of autism spectrum disorder in younger girls. There was no significant difference in duration of assessment for males and females suggesting that delays in diagnosis of females occur prior to referral for assessment. Implications for practice and research are considered. © The Author(s) 2016.
[Genetic and neuroendocrine aspects in autism spectrum disorder].
Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian
The autism spectrum disorder (ASD) was described in 1943 and is defined as a developmental disorder that affects social interaction and communication. It is usually identified in early stages of development from 18 months of age. Currently, autism is considered a neurological disorder with a spectrum covering cases of different degrees, which is associated with genetic factors, not genetic and environmental. Among the genetic factors, various syndromes have been described that are associated with this disorder. Also, the neurobiology of autism has been studied at the genetic, neurophysiological, neurochemical and neuropathological levels. Neuroimaging techniques have shown multiple structural abnormalities in these patients. There have also been changes in the serotonergic, GABAergic, catecholaminergic and cholinergic systems related to this disorder. This paper presents an update of the information presented in the genetic and neuroendocrine aspects of autism spectrum disorder. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.
Dewinter, Jeroen; Van Parys, Hanna; Vermeiren, Robert; van Nieuwenhuizen, Chijs
2017-01-01
This qualitative study explored how adolescent boys with autism spectrum disorder experience their sexuality. Previous research has demonstrated that sexuality is a developmental task for boys with autism spectrum disorder, as it is for their peers. Case studies have suggested a relation between autism spectrum disorder and atypical sexual development; empirical studies on this subject, however, are scant and inconsistent. This study is based on interviews with eight boys, aged 16-20 years, with Asperger's disorder or autistic disorder. Interpretative phenomenological analysis of the data revealed three major themes relating to (a) how they experience sexual feelings, think about sexuality and think about themselves as sexual beings; (b) how they perceive messages relating to sexuality in their surroundings; and (c) how they experience finding and having a partner and partnered sex. We believe that attention to these themes is needed in assessment, education and further research. © The Author(s) 2016.
Effective theory of dark energy at redshift survey scales
DOE Office of Scientific and Technical Information (OSTI.GOV)
Gleyzes, Jérôme; Mancarella, Michele; Vernizzi, Filippo
2016-02-01
We explore the phenomenological consequences of general late-time modifications of gravity in the quasi-static approximation, in the case where cold dark matter is non-minimally coupled to the gravitational sector. Assuming spectroscopic and photometric surveys with configuration parameters similar to those of the Euclid mission, we derive constraints on our effective description from three observables: the galaxy power spectrum in redshift space, tomographic weak-lensing shear power spectrum and the correlation spectrum between the integrated Sachs-Wolfe effect and the galaxy distribution. In particular, with ΛCDM as fiducial model and a specific choice for the time dependence of our effective functions, we performmore » a Fisher matrix analysis and find that the unmarginalized 68% CL errors on the parameters describing the modifications of gravity are of order σ∼10{sup −2}–10{sup −3}. We also consider two other fiducial models. A nonminimal coupling of CDM enhances the effects of modified gravity and reduces the above statistical errors accordingly. In all cases, we find that the parameters are highly degenerate, which prevents the inversion of the Fisher matrices. Some of these degeneracies can be broken by combining all three observational probes.« less
Setia, Nitika; Saxena, Renu; Arora, Anjali; Verma, Ishwar C
2016-12-01
Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians. Sixteen homozygous FH subjects from eleven families were analyzed for mutations by Sanger sequencing. Large rearrangements in LDLR gene were evaluated by multiplex ligation probe dependent amplification (MLPA) technique. Ten mutations were observed in LDLR gene, of which four mutations were novel. No mutation was detected in ApoB gene and common PCSK9 mutation (p.D374Y). Fourteen cases had homozygous mutations; one had compound heterozygous mutation, while no mutation was detected in one clinically homozygous case. We report an interesting "Triple hit" case with features of homozygous FH. The spectrum of mutations in the Asian Indian population is quite heterogeneous. Of the mutations identified, 40% were novel. No mutation was observed in exons 3, 9 and 14 of LDLR gene, which are considered to be hot spots in studies done on Asian Indians in South Africa. Early detection followed by aggressive therapy, and cascade screening of extended families has been initiated to reduce the morbidity and mortality in these patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
ERIC Educational Resources Information Center
Lacava, Paul G.; Rankin, Ana; Mahlios, Emily; Cook, Katie; Simpson, Richard L.
2010-01-01
Many students with Autism Spectrum Disorders (ASD) have delays learning to recognize emotions. Social behavior is also challenging, including initiating interactions, responding to others, developing peer relationships, and so forth. In this single case design study we investigated the relationship between use of computer software ("Mind Reading:…
Elevated Voriconazole Level Associated With Hallucinations and Suicidal Ideation: A Case Report.
Jansen, Jeffrey W; Sen, Sumon K; Moenster, Ryan P
2017-01-01
Voriconazole, a broad-spectrum antifungal, has been associated with visual and auditory hallucinations. We report the case of patient being treated with voriconazole for pulmonary aspergillosis who developed visual hallucinations and new suicidal ideation with plan. Voriconazole troughs were supratherapeutic (9.0 mcg/mL) and the patient was positive for the CYP2C19*1/*2 allele.
ERIC Educational Resources Information Center
Derfoufi, Sanae; Benmoussa, Adnane; El Harti, Jaouad; Ramli, Youssef; Taoufik, Jamal; Chaouir, Souad
2015-01-01
This study investigates the positive impact of the Case Method implemented during a 4- hours tutorial in "therapeutic chemistry module." We view the Case Method as one particular approach within the broader spectrum of problem based or inquiry based learning approaches. Sixty students were included in data analysis. A pre-test and…
Metal-Insulator Transition Revisited for Cold Atoms in Non-Abelian Gauge Potentials
DOE Office of Scientific and Technical Information (OSTI.GOV)
Satija, Indubala I.; National Institute of Standards and Technology, Gaithersburg, Maryland 20899; Dakin, Daniel C.
2006-11-24
We discuss the possibility of realizing metal-insulator transitions with ultracold atoms in two-dimensional optical lattices in the presence of artificial gauge potentials. For Abelian gauges, such transitions occur when the magnetic flux penetrating the lattice plaquette is an irrational multiple of the magnetic flux quantum. Here we present the first study of these transitions for non-Abelian U(2) gauge fields. In contrast to the Abelian case, the spectrum and localization transition in the non-Abelian case is strongly influenced by atomic momenta. In addition to determining the localization boundary, the momentum fragments the spectrum. Other key characteristics of the non-Abelian case includemore » the absence of localization for certain states and satellite fringes around the Bragg peaks in the momentum distribution and an interesting possibility that the transition can be tuned by the atomic momenta.« less
Crossman, Molly K; Kazdin, Alan E
2016-01-01
Caregivers of children with autism spectrum disorder are vulnerable to overstated benefits of interventions, and such overstatements are common with interventions involving animals. This response to Wright, Hall, Hames, Hardmin, Mills, the Paws Team, and Mills' (2015) article, "Acquiring a Pet Dog Significantly Reduces Stress of Primary Careers for Children with Autism Spectrum Disorder: A Prospective Case Control Study," details why that study's conclusions are premature. Specific limitations of the study are detailed, including overstatements of the supportive literature, problems with the design, and mismatch between the findings and conclusions. The purpose is not to challenge the benefits of pet ownership, but to point out that those benefits have not yet been established.
Umoh, Mfon E; Dammer, Eric B; Dai, Jingting; Duong, Duc M; Lah, James J; Levey, Allan I; Gearing, Marla; Glass, Jonathan D; Seyfried, Nicholas T
2018-01-01
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlap in clinical presentation, neuropathology, and genetic underpinnings. The molecular basis for the overlap of these disorders is not well established. We performed a comparative unbiased mass spectrometry-based proteomic analysis of frontal cortical tissues from postmortem cases clinically defined as ALS, FTD, ALS and FTD (ALS/FTD), and controls. We also included a subset of patients with the C9orf72 expansion mutation, the most common genetic cause of both ALS and FTD Our systems-level analysis of the brain proteome integrated both differential expression and co-expression approaches to assess the relationship of these differences to clinical and pathological phenotypes. Weighted co-expression network analysis revealed 15 modules of co-expressed proteins, eight of which were significantly different across the ALS-FTD disease spectrum. These included modules associated with RNA binding proteins, synaptic transmission, and inflammation with cell-type specificity that showed correlation with TDP-43 pathology and cognitive dysfunction. Modules were also examined for their overlap with TDP-43 protein-protein interactions, revealing one module enriched with RNA-binding proteins and other causal ALS genes that increased in FTD/ALS and FTD cases. A module enriched with astrocyte and microglia proteins was significantly increased in ALS cases carrying the C9orf72 mutation compared to sporadic ALS cases, suggesting that the genetic expansion is associated with inflammation in the brain even without clinical evidence of dementia. Together, these findings highlight the utility of integrative systems-level proteomic approaches to resolve clinical phenotypes and genetic mechanisms underlying the ALS-FTD disease spectrum in human brain. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.
Measurement of the surface wavelength distribution of narrow-band radiation by a colorimetric method
DOE Office of Scientific and Technical Information (OSTI.GOV)
Kraiskii, A V; Mironova, T V; Sultanov, T T
2010-09-10
A method is suggested for determining the wavelength of narrow-band light from a digital photograph of a radiating surface. The digital camera used should be appropriately calibrated. The accuracy of the wavelength measurement is better than 1 nm. The method was tested on the yellow doublet of mercury spectrum and on the adjacent continuum of the incandescent lamp radiation spectrum. By means of the method suggested the homogeneity of holographic sensor swelling was studied in stationary and transient cases. (laser applications and other topics in quantum electronics)
NASA Astrophysics Data System (ADS)
Kraiskii, A. V.; Mironova, T. V.; Sultanov, T. T.
2010-09-01
A method is suggested for determining the wavelength of narrow-band light from a digital photograph of a radiating surface. The digital camera used should be appropriately calibrated. The accuracy of the wavelength measurement is better than 1 nm. The method was tested on the yellow doublet of mercury spectrum and on the adjacent continuum of the incandescent lamp radiation spectrum. By means of the method suggested the homogeneity of holographic sensor swelling was studied in stationary and transient cases.
Histological spectrum of angiofibroma of soft tissue: histological and genetic analysis of 13 cases.
Yamada, Yuichi; Yamamoto, Hidetaka; Kohashi, Kenichi; Ishii, Takeaki; Iura, Kunio; Maekawa, Akira; Bekki, Hirofumi; Otsuka, Hiroshi; Yamashita, Kyoko; Tanaka, Hiroyuki; Hiraki, Tsubasa; Mukai, Munenori; Shirakawa, Atsuko; Shinnou, Yoko; Jinno, Mari; Yanai, Hiroyuki; Taguchi, Kenichi; Maehara, Yoshihiko; Iwamoto, Yukihide; Oda, Yosinao
2016-09-01
Angiofibroma of soft tissue (AFST) is a rare soft tissue neoplasm characterized by a fibroblastic cytomorphology and a prominent vascular structure. AFSTs possess a novel fusion gene, i.e. NCOA2-AHRR/AHRR-NCOA2 or GTF2I-NCOA2, providing a useful approach to diagnosing AFST. Morphologically, AFSTs span a wide spectrum, making diagnosis a challenge. The aim of this study was to review AFST cases and to report previously unknown histological features, which we confirmed by genetic analysis. We reviewed 276 cases diagnosed as solitary fibrous tumours/haemangiopericytomas (232 cases), unclassified tumours of fibroblastic differentiation (36 cases), and recently diagnosed AFSTs (eight cases), and retrieved 13 cases compatible with AFST. Immunohistochemical staining was performed for these cases, all 13 of which were analysed by reverse transcription polymerase chain reaction and fluorescence in-situ hybridization. The histological findings were as follows: amianthoid fibres, extravasation of red blood cells, haemosiderin deposition, aggregates of foamy histiocytes, cystic change, necrosis, and haemorrhage. Immunohistochemically, the tumour cells were positive for epithelial membrane antigen (four of 13 cases), desmin (six of 13 cases), CD163 (13 of 13 cases), CD68 (seven of 13 cases), oestrogen receptor (13 of 13 cases), progesterone receptor (three of 13 cases), and STAT6 (one of 13 cases, weak nuclear staining), but they were negative for CD34, α-smooth muscle actin, muscle-specific actin, S100, pan-cytokeratin, MDM2, and CDK4. The AHRR-NCOA2 fusion gene was detected in eight cases, and NCOA2 gene rearrangement in nine cases. We revealed the previously unreported histological variation and immunohistochemical findings of AFST, and confirmed them by using genetic methods. The results suggested that AFST should be considered in the diagnosis of fibrous or fibrohistiocytic tumours with the above histological features. © 2016 John Wiley & Sons Ltd.
Educator of the Court: The Role of the Expert Witness in Cases Involving Autism Spectrum Disorder
Berryessa, Colleen M.
2017-01-01
The role of the expert witness in legal contexts is to educate fact finders of the court who may have no background in the expert’s area. This role can be especially difficult for those who assist in cases involving individuals with Autism Spectrum Disorder (ASD). As expert assistance on ASD is crucial to ensuring just outcomes for individuals diagnosed with ASD, knowledge on how expert witnesses perceive and approach their roles, and what factors may influence these perceptions, is essential. This qualitative research utilizes semi-structured interviews with a sample of expert witnesses in cases involving ASD, analyzed using a grounded-theory constant comparative analytic approach. Data reveal that experts appear to view their roles in court as reconstructionists, educators, myth-dispellers, and most of all, communicators, actively using their testimony to fill these roles in cases. These results also allow for the development of a model that illustrates two areas that coalesce to affect how experts view their roles in court: (1) personal experiences of experts in cases in which they have been involved; and (2) influences outside experts’ personal experiences, such as their general opinions or observations regarding ASD and its relationship to the criminal justice system. PMID:28943746
Necrotizing fasciitis in a patient receiving tocilizumab for rheumatoid arthritis - Case report.
Rosa-Gonçalves, Diana; Bernardes, Miguel; Costa, Lúcia
We present a case of necrotizing fasciitis in a 66-year-old Caucasian woman with rheumatoid arthritis receiving tocilizumab, and provide a review of published cases. The patient exhibited no systemic symptoms and discreet cutaneous inflammatory signals at presentation. She was successfully treated with broad-spectrum empiric antibiotic therapy and surgical debridement. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.
A Three-Dimensional Target Depth-Resolution Method with a Single-Vector Sensor
Zhao, Anbang; Bi, Xuejie; Hui, Juan; Zeng, Caigao; Ma, Lin
2018-01-01
This paper mainly studies and verifies the target number category-resolution method in multi-target cases and the target depth-resolution method of aerial targets. Firstly, target depth resolution is performed by using the sign distribution of the reactive component of the vertical complex acoustic intensity; the target category and the number resolution in multi-target cases is realized with a combination of the bearing-time recording information; and the corresponding simulation verification is carried out. The algorithm proposed in this paper can distinguish between the single-target multi-line spectrum case and the multi-target multi-line spectrum case. This paper presents an improved azimuth-estimation method for multi-target cases, which makes the estimation results more accurate. Using the Monte Carlo simulation, the feasibility of the proposed target number and category-resolution algorithm in multi-target cases is verified. In addition, by studying the field characteristics of the aerial and surface targets, the simulation results verify that there is only amplitude difference between the aerial target field and the surface target field under the same environmental parameters, and an aerial target can be treated as a special case of a surface target; the aerial target category resolution can then be realized based on the sign distribution of the reactive component of the vertical acoustic intensity so as to realize three-dimensional target depth resolution. By processing data from a sea experiment, the feasibility of the proposed aerial target three-dimensional depth-resolution algorithm is verified. PMID:29649173
A Three-Dimensional Target Depth-Resolution Method with a Single-Vector Sensor.
Zhao, Anbang; Bi, Xuejie; Hui, Juan; Zeng, Caigao; Ma, Lin
2018-04-12
This paper mainly studies and verifies the target number category-resolution method in multi-target cases and the target depth-resolution method of aerial targets. Firstly, target depth resolution is performed by using the sign distribution of the reactive component of the vertical complex acoustic intensity; the target category and the number resolution in multi-target cases is realized with a combination of the bearing-time recording information; and the corresponding simulation verification is carried out. The algorithm proposed in this paper can distinguish between the single-target multi-line spectrum case and the multi-target multi-line spectrum case. This paper presents an improved azimuth-estimation method for multi-target cases, which makes the estimation results more accurate. Using the Monte Carlo simulation, the feasibility of the proposed target number and category-resolution algorithm in multi-target cases is verified. In addition, by studying the field characteristics of the aerial and surface targets, the simulation results verify that there is only amplitude difference between the aerial target field and the surface target field under the same environmental parameters, and an aerial target can be treated as a special case of a surface target; the aerial target category resolution can then be realized based on the sign distribution of the reactive component of the vertical acoustic intensity so as to realize three-dimensional target depth resolution. By processing data from a sea experiment, the feasibility of the proposed aerial target three-dimensional depth-resolution algorithm is verified.
NASA Astrophysics Data System (ADS)
Bochkarev, S. V.
2014-02-01
A new method is proposed and elaborated for investigating complex or real trigonometric series with various spectra. It is based on new multiplicative inequalities which give a lower bound for the integral norm of the de la Vallée-Poussin means and are themselves based on results establishing corresponding analogues of the Littlewood-Paley theorem in the BMO, Hardy, and Lorentz spaces. For spectra with power-like density a description of the class of absolute values of coefficients such that the corresponding complex or real trigonometric series are Fourier series is found which depends on the arithmetic characteristics of the spectrum and is sharp in limiting cases. Furthermore, for the quadratic spectrum some results of Hardy and Littlewood on elliptic theta functions are generalized and refined. For the quadratic spectrum and power-like spectra with non-integer exponents new lower bounds are found for the integral norms of exponential sums. Bibliography: 41 titles.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Bernardo, Giuseppe Di; Evoli, Carmelo; Gaggero, Daniele
2013-03-01
A multichannel analysis of cosmic ray electron and positron spectra and of the diffuse synchrotron emission of the Galaxy is performed by using the DRAGON code. This study is aimed at probing the interstellar electron source spectrum down to E ∼< 1GeV and at constraining several propagation parameters. We find that above 4GeV the e{sup −} source spectrum is compatible with a power-law of index ∼ 2.5. Below 4GeV instead it must be significantly suppressed and the total lepton spectrum is dominated by secondary particles. The positron spectrum and fraction measured below a few GeV are consistently reproduced only withinmore » low reacceleration models. We also constrain the scale-height z{sub t} of the cosmic-ray distribution using three independent (and, in two cases, original) arguments, showing that values of z{sub t} ∼< 2kpc are excluded. This result may have strong implications for particle dark matter searches.« less
Electroencephalography for children with autistic spectrum disorder: a sedation protocol.
Keidan, Ilan; Ben-Menachem, Erez; Tzadok, Michal; Ben-Zeev, Bruria; Berkenstadt, Haim
2015-02-01
To report the effectiveness and efficiency of a predetermined sedation protocol for providing sedation for electroencephalograph (EEG) studies in children with autism. Sleep EEG has been advocated for the majority of children with autism spectrum disorder. In most cases, sedation is required to allow adequate studies. Most sedation drugs have negative effects on the EEG pattern. The sedation protocol we adopted included chloral hydrate, dexmedetomidine, and ketamine and was evaluated prospectively for 2 years. One hundred and eighty-three children with autistic spectrum disorder were sedated with the described drug protocol that was efficient, provided adequate EEG readings, and was not associated with serious adverse events. Our protocol kept costs to a minimum but provided appropriate escalation in care when required. © 2014 John Wiley & Sons Ltd.
1987-07-01
OVER TIME The phosphor stability over time was studied by measuring the spectrum over an extended period of time. On each day the spectrum of the...intensity, it causes the display to change in order to keep the light intensity constant. For example, in one case , the high intensity room lights were...MC1445. This device has the capability of switching! from one video source to another in a very shoi t time, 20 ns. The MC1445 is used to switch from
Drag reduction by polymer additives in decaying turbulence.
Kalelkar, Chirag; Govindarajan, Rama; Pandit, Rahul
2005-07-01
We present results from a systematic numerical study of decaying turbulence in a dilute polymer solution by using a shell-model version of the finitely extensible nonlinear elastic and Peterlin equations. Our study leads to an appealing definition of the drag reduction for the case of decaying turbulence. We exhibit several new results, such as the potential-energy spectrum of the polymer, hitherto unobserved features in the temporal evolution of the kinetic-energy spectrum, and characterize intermittency in such systems. We compare our results with the Gledzer-Ohkitani-Yamada shell model for fluid turbulence.
Morton, Reeva C; Gadke, Daniel L
2018-03-01
Cover, Copy, Compare (CCC) and Copy, Cover, Compare (MCCC) procedures are effective interventions for improving math fluency. However, there is a gap in literature exploring the use of these interventions for children with autism spectrum disorders (ASD). The purpose of the current study was to compare the use of CCC and MCCC for children with ASD using a multi-component single-case experimental design. The results showed no notable difference between the interventions. Implications and limitations, particularly surrounding experimental control, are discussed in detail.
Fine structure of spectrum of twist-three operators in QCD
NASA Astrophysics Data System (ADS)
Belitsky, A. V.
1999-04-01
We unravel the structure of the spectrum of the anomalous dimensions of the quark-gluon twist-3 operators which are responsible for the multiparton correlations in hadrons and enter as a leading contribution to several physical cross sections. The method of analysis is based on the recent finding of a non-trivial integral of motion for the corresponding Hamiltonian problem in multicolour limit which results into exact integrability of the three-particle system. Quasiclassical expansion is used for solving the problem. We address the chiral-odd sector as a case of study.
Sultana, A; Zakaria, S M; Bhuiyan, S I; Habib, A; Dey, S K; Rahman, M; Basher, A
2012-07-01
Post-kala-azar dermal leishmaniasis (PKDL) is a complication of visceral leishmaniasis (VL) and serves as a potential reservoir for Leishmania parasite. The study was aimed to evaluate the spectrum of skin lesions of PKDL in kala-azar endemic areas in Bangladesh. This cross sectional study was carried out to observe the characteristics of skin lesions among 250 PKDL cases. The suspected PKDL patients in highly endemic villages of Fulbaria Upazilla of Mymensingh district.were subjected to a dipstick test (rK39) for kala azar. The median time interval between diagnosing kala-azar and PKDL was 23 month (m-21, r- 0-60 months). The most common skin lesions were multiple symmetrical hypopigmented macules with irregular margins in 179(71.6%) cases followed by erythematous facial induration in 74(29.6%), papular in 33(13.2%), nodular in 28(11.2%) cases, combination of macules, papules, nodules and plaques in 88(35.2%) cases, annular in 7(2.8%) cases and Papillomatous mucosal growth in 2(0.8%) cases. Sites of involvement were mostly in face (92.4%), Trunk (84.8%), extremities (33.2%), oral mucosa and tongue (0.8%) and Genitalia (1.2%). Suspicion of PKDL on the basis of skin lesions will lead to early diagnosis and prompt treatment will impart an important role in prevention and eradication of Leishmaniasis in Bangladesh.
Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography.
Has, Recep; Ermiş, Hayri; Yüksel, Atil; Ibrahimoğlu, Lem'i; Yildirim, Alkan; Sezer, Hande Delier; Başaran, Seher
2004-01-01
The purpose of this study was to determine the associated abnormalities and clinical outcomes of fetuses with Dandy-Walker malformations. Sonograms and medical reports of 78 cases were reviewed and information regarding each outcome was collected from autopsy records, hospital charts and specialists caring for the surviving infants. We identified 64 fetuses with classic Dandy-Walker malformation (DW) and 14 fetuses with Dandy-Walker variant (DWV). A high proportion (44.8%) of the parents were consanguineous. The spectrum and proportion of central nervous system (67.1 vs. 71.4%; p = 1.0) and other malformations (43.7 vs. 64.2%; p = 0.57) associated with DW and DWV were similar. Chromosome abnormalities were found in 9 of the 51 (17.6%) fetuses that underwent karyotype analysis. Only 4 of 64 (6.2%) DW and 3 of 14 (21.4%) DWV infants survived (p 0.14), and all surviving infants with DW or DWV had neurological disorders. DW and DWV cases show so many similarities that a clear-cut distinction is difficult. There was no significant difference in the spectrum of associated anomalies and postnatal prognosis between DW and DWV cases. Copyright 2004 S. Karger AG, Basel
Fourier analysis of multitracer cosmological surveys
NASA Astrophysics Data System (ADS)
Abramo, L. Raul; Secco, Lucas F.; Loureiro, Arthur
2016-02-01
We present optimal quadratic estimators for the Fourier analysis of cosmological surveys that detect several different types of tracers of large-scale structure. Our estimators can be used to simultaneously fit the matter power spectrum and the biases of the tracers - as well as redshift-space distortions (RSDs), non-Gaussianities (NGs), or any other effects that are manifested through differences between the clusterings of distinct species of tracers. Our estimators reduce to the one by Feldman, Kaiser & Peacock (FKP) in the case of a survey consisting of a single species of tracer. We show that the multitracer estimators are unbiased, and that their covariance is given by the inverse of the multitracer Fisher matrix. When the biases, RSDs and NGs are fixed to their fiducial values, and one is only interested in measuring the underlying power spectrum, our estimators are projected into the estimator found by Percival, Verde & Peacock. We have tested our estimators on simple (lognormal) simulated galaxy maps, and we show that it performs as expected, being either equivalent or superior to the FKP method in all cases we analysed. Finally, we have shown how to extend the multitracer technique to include the one-halo term of the power spectrum.
The spectrum of rheumatic in-patient diagnoses at a pediatric hospital in Kenya.
Migowa, Angela; Colmegna, Inés; Hitchon, Carol; Were, Eugene; Ng'ang'a, Evelyn; Ngwiri, Thomas; Wachira, John; Bernatsky, Sasha; Scuccimarri, Rosie
2017-01-14
Pediatric rheumatic diseases are chronic illnesses that can cause considerable disease burden to children and their families. There is limited epidemiologic data on these diseases in East Africa. The aim of this study was to assess the spectrum of pediatric rheumatic diagnoses in an in-patient setting and determine the accuracy of ICD-10 codes in identifying these conditions. Medical records from Gertrude's Children's Hospital in Kenya were reviewed for patients diagnosed with "diseases of the musculoskeletal system and connective tissue" as per ICD-10 diagnostic codes assigned at discharge between January and December 2011. Cases were classified as "rheumatic" or "non-rheumatic". Accuracy of the assigned ICD-10 code was ascertained. Death records were reviewed. Longitudinal follow-up of "rheumatic" cases was done by chart review up to March 2014. Twenty six patients were classified as having a "rheumatic" condition accounting for 0.32% of patients admitted. Of these, 11 (42.3%) had an acute inflammatory arthropathy, 6 (23.1%) had septic arthritis, 4 (15.4%) had Kawasaki disease, 2 (7.7%) had pyomyositis, and there was one case each of septic bursitis, rheumatic fever, and a non-specific soft tissue disorder. No cases of juvenile idiopathic arthritis (JIA) were identified. One case of systemic lupus erythematosus was documented by death records. The agreement between the treating physician's discharge diagnosis and medical records ICD-10 code assignment was good (Kappa: 0.769). On follow-up, one child had recurrent knee swelling that was suspicious for JIA. Pediatric rheumatic conditions represented 0.32% of admissions at a pediatric hospital in Kenya. Acute inflammatory arthropathies, septic arthritis and Kawasaki disease were the most frequent in-patient rheumatic diagnoses. Chronic pediatric rheumatic diseases were rare amongst this in-patient population. Despite limitations associated with the use of administrative diagnostic codes, they can be a first step in evaluating the spectrum of pediatric rheumatic conditions in Kenya and other countries in East Africa.
Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.
Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M
2015-07-01
Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the cleft and surgical interventions. © International & American Associations for Dental Research 2015.
77 FR 61330 - Policies Regarding Mobile Spectrum Holdings
Federal Register 2010, 2011, 2012, 2013, 2014
2012-10-09
... the transaction and is based on the size of the post-transaction Herfindahl-Hirschman Index (HHI) \\26... further case-by-case market analysis those markets in which, post-transaction, the HHI would be greater... De Facto Transfer Leasing Arrangements and Petition for Declaratory Ruling that the Transaction is...
Direct numerical simulation of two-dimensional wall-bounded turbulent flows from receptivity stage.
Sengupta, T K; Bhaumik, S; Bhumkar, Y G
2012-02-01
Deterministic route to turbulence creation in 2D wall boundary layer is shown here by solving full Navier-Stokes equation by dispersion relation preserving (DRP) numerical methods for flow over a flat plate excited by wall and free stream excitations. Present results show the transition caused by wall excitation is predominantly due to nonlinear growth of the spatiotemporal wave front, even in the presence of Tollmien-Schlichting (TS) waves. The existence and linear mechanism of creating the spatiotemporal wave front was established in Sengupta, Rao and Venkatasubbaiah [Phys. Rev. Lett. 96, 224504 (2006)] via the solution of Orr-Sommerfeld equation. Effects of spatiotemporal front(s) in the nonlinear phase of disturbance evolution have been documented by Sengupta and Bhaumik [Phys. Rev. Lett. 107, 154501 (2011)], where a flow is taken from the receptivity stage to the fully developed 2D turbulent state exhibiting a k(-3) energy spectrum by solving the Navier-Stokes equation without any artifice. The details of this mechanism are presented here for the first time, along with another problem of forced excitation of the boundary layer by convecting free stream vortices. Thus, the excitations considered here are for a zero pressure gradient (ZPG) boundary layer by (i) monochromatic time-harmonic wall excitation and (ii) free stream excitation by convecting train of vortices at a constant height. The latter case demonstrates neither monochromatic TS wave, nor the spatiotemporal wave front, yet both the cases eventually show the presence of k(-3) energy spectrum, which has been shown experimentally for atmospheric dynamics in Nastrom, Gage and Jasperson [Nature 310, 36 (1984)]. Transition by a nonlinear mechanism of the Navier-Stokes equation leading to k(-3) energy spectrum in the inertial subrange is the typical characteristic feature of all 2D turbulent flows. Reproduction of the spectrum noted in atmospheric data (showing dominance of the k(-3) spectrum over the k(-5/3) spectrum in Nastrom et al.) in laboratory scale indicates universality of this spectrum for all 2D turbulent flows. Creation of universal features of 2D turbulence by a deterministic route has been established here for the first time by solving the Navier-Stokes equation without any modeling, as has been reported earlier in the literature by other researchers.
CASCADE AND DAMPING OF ALFVEN-CYCLOTRON FLUCTUATIONS: APPLICATION TO SOLAR WIND TURBULENCE
DOE Office of Scientific and Technical Information (OSTI.GOV)
Jiang Yanwei; Petrosian, Vahe; Liu Siming
2009-06-10
It is well recognized that the presence of magnetic fields will lead to anisotropic energy cascade and dissipation of astrophysical turbulence. With the diffusion approximation and linear dissipation rates, we study the cascade and damping of Alfven-cyclotron fluctuations in solar plasmas numerically for two diagonal diffusion tensors, one (isotropic) with identical components for the parallel and perpendicular directions (with respect to the magnetic field) and one with different components (nonisotropic). It is found that for the isotropic case the steady-state turbulence spectra are nearly isotropic in the inertial range and can be fitted by a single power-law function with amore » spectral index of -3/2, similar to the Iroshnikov-Kraichnan phenomenology, while for the nonisotropic case the spectra vary greatly with the direction of propagation. The energy fluxes in both cases are much higher in the perpendicular direction than in the parallel direction due to the angular dependence (or inhomogeneity) of the components. In addition, beyond the MHD regime the kinetic effects make the spectrum softer at higher wavenumbers. In the dissipation range the turbulence spectrum cuts off at the wavenumber, where the damping rate becomes comparable to the cascade rate, and the cutoff wavenumber changes with the wave propagation direction. The angle-averaged turbulence spectrum of the isotropic model resembles a broken power law, which cuts off at the maximum of the cutoff wavenumbers or the {sup 4}He cyclotron frequency. Taking into account the Doppler effects, the model naturally reproduces the broken power-law turbulence spectra observed in the solar wind and predicts that a higher break frequency always comes along with a softer dissipation range spectrum that may be caused by the increase of the turbulence intensity, the reciprocal of the plasma {beta}{sub p}, and/or the angle between the solar wind velocity and the mean magnetic field. These predictions can be tested by detailed comparisons with more accurate observations.« less
Several unusual cases of child abuse.
Palmer, H; Weston, J T
1976-10-01
All childhood deaths which occurred in New Mexico during 1974 and 1975 were reviewed. Nine fatal instances of abuse were identified representing the entire spectrum of physical abuse: neglect, abuse in a single episode of injury, repetitive abuse, or sexual abuse. Several cases are summarized. These are unusual either in the distribution of pathologic findings or in the problems encountered in court presentation.
ERIC Educational Resources Information Center
Sandhu, Rizwan Saleem; Hussain, Sajid
2016-01-01
The online learning has broadened the teaching spectrum from Face-to-Face to virtual environment, and this move has brought traditional teacher-centered instruction to learner-centered instruction. This paradigm shift appears to place demands on faculty to modify faculty's instruction roles that are different from those encountered in Face-to-Face…
Medical Conditions in the First Years of Life Associated with Future Diagnosis of ASD in Children
ERIC Educational Resources Information Center
Alexeeff, Stacey E.; Yau, Vincent; Qian, Yinge; Davignon, Meghan; Lynch, Frances; Crawford, Phillip; Davis, Robert; Croen, Lisa A.
2017-01-01
This study examines medical conditions diagnosed prior to the diagnosis of autism spectrum disorder (ASD). Using a matched case control design with 3911 ASD cases and 38,609 controls, we found that 38 out of 79 medical conditions were associated with increased ASD risk. Developmental delay, mental health, and neurology conditions had the strongest…
Case Study Analyses of Play Behaviors of 12-Month-Old Infants Later Diagnosed with Autism
ERIC Educational Resources Information Center
Mulligan, Shelley
2015-01-01
Case study research methodology was used to describe the play behaviors of three infants at 12 months of age, who were later diagnosed with an autism spectrum disorder. Data included standardized test scores, and analyses of video footage of semi-structured play sessions from infants identified as high risk for autism, because of having a sibling…
Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.
Lee, Paul J; Yoo, Naomi S; Hagemann, Ian S; Pfeifer, John D; Cottrell, Catherine E; Abel, Haley J; Duncavage, Eric J
2017-02-01
Recurrent genomic mutations in uterine and non-uterine leiomyosarcomas have not been well established. Using a next generation sequencing (NGS) panel of common cancer-associated genes, 25 leiomyosarcomas arising from multiple sites were examined to explore genetic alterations, including single nucleotide variants (SNV), small insertions/deletions (indels), and copy number alterations (CNA). Sequencing showed 86 non-synonymous, coding region somatic variants within 151 gene targets in 21 cases, with a mean of 4.1 variants per case; 4 cases had no putative mutations in the panel of genes assayed. The most frequently altered genes were TP53 (36%), ATM and ATRX (16%), and EGFR and RB1 (12%). CNA were identified in 85% of cases, with the most frequent copy number losses observed in chromosomes 10 and 13 including PTEN and RB1; the most frequent gains were seen in chromosomes 7 and 17. Our data show that deletions in canonical cancer-related genes are common in leiomyosarcomas. Further, the spectrum of gene mutations observed shows that defects in DNA repair and chromosomal maintenance are central to the biology of leiomyosarcomas, and that activating mutations observed in other common cancer types are rare in leiomyosarcomas. Copyright © 2017 Elsevier Inc. All rights reserved.
Ganz, Jennifer B; Earles-Vollrath, Theresa L; Heath, Amy K; Parker, Richard I; Rispoli, Mandy J; Duran, Jaime B
2012-01-01
Many individuals with autism cannot speak or cannot speak intelligibly. A variety of aided augmentative and alternative communication (AAC) approaches have been investigated. Most of the research on these approaches has been single-case research, with small numbers of participants. The purpose of this investigation was to meta-analyze the single case research on the use of aided AAC with individuals with autism spectrum disorders (ASD). Twenty-four single-case studies were analyzed via an effect size measure, the Improvement Rate Difference (IRD). Three research questions were investigated concerning the overall impact of AAC interventions on targeted behavioral outcomes, effects of AAC interventions on individual targeted behavioral outcomes, and effects of three types of AAC interventions. Results indicated that, overall, aided AAC interventions had large effects on targeted behavioral outcomes in individuals with ASD. AAC interventions had positive effects on all of the targeted behavioral outcome; however, effects were greater for communication skills than other categories of skills. Effects of the Picture Exchange Communication System and speech-generating devices were larger than those for other picture-based systems, though picture-based systems did have small effects.
ERIC Educational Resources Information Center
Cohen, David; Martel, Claire; Wilson, Anna; Dechambre, Nicole; Amy, Celine; Duverger, Ludovic; Guile, Jean-Marc; Pipiras, Eva; Benzacken, Brigitte; Cave, Helene; Cohen, Laurent; Heron, Delphine; Plaza, Monique
2007-01-01
Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal…
NASA Astrophysics Data System (ADS)
Milla, M. A.; Kudeki, E.; Chau, J. L.
2012-12-01
Coulomb collision effects on incoherent scatter radar signals become important when radar beams are pointed perpendicular to the Earth's magnetic field (B). To study these effects, Milla and Kudeki [2011] developed a procedure to estimate the spectrum of plasma density fluctuations (also known as incoherent scatter spectrum) based on simulations of collisional particle trajectories in single-ion component plasmas. In these simulations, collision effects on the particle motion are modeled using the standard Fokker-Planck model of Rosenbluth et al. [1957]. We have recently generalized the procedure of Milla and Kudeki to consider the case of multiple ion components in order to study the characteristics of the incoherent scatter spectrum in O+, H+, and He+ ionospheric plasmas, which is needed for the analysis of topside perpendicular-to-B observations at the Jicamarca Radio Observatory. In this presentation, we will report on the development of this new approach and on the characteristics of the spectrum models that were developed. The simulation results show that the ion collision process can be fairly well approximated as a Gaussian motion process, a model that has been previously studied in the literature by different authors. However, in the case of electron collisions, the process is not Gaussian having a complicated dependence on plasma parameters. As it will be discussed, electron collisions have a significant impact on the shape of the incoherent scatter spectrum. The ultimate application of the models that were developed is the simultaneous estimation of plasma drifts, densities, and temperatures of the topside equatorial ionosphere in perpendicular-to-B experiments at Jicamarca. This experimental evaluation will have a broader impact since the accuracy of the Fokker-Planck collision model will be tested. References: Milla, M. A., and E. Kudeki (2011), Incoherent scatter spectral theories-Part II: Modeling the spectrum for modes propagating perpendicular to B, IEEE Transactions on Geoscience and Remote Sensing, 49(1), 329-345, doi:10.1109/TGRS.2010.2057253. Rosenbluth, M. N., W. M. MacDonald, and D. L. Judd (1957), Fokker-Planck equation for an inverse-square force, Physical Review, 107(1), 1-6, doi:10.1103/PhysRev.107.1.
McCullough, Elaine; Stedmon, Jacqui; Dallos, Rudi
2014-07-01
This paper offers research case studies of four severely maltreated children who had received a diagnosis of autistic spectrum disorder. A range of measures were employed to explore the children's psychological and emotional functioning, including Theory of Mind assessment (Sally-Anne Test), attachment measures (Story Stems Assessment Profile and Relationship Problems Questionnaire), along with measures to assess general psychological and emotional well-being. Contrary to the diagnosis, the children did not reveal a theory of mind deficit. However, they did indicate a profile of difficulties in mentalisation on the Story Stems. The findings are discussed in terms of the extent to which mentalisation and theory of mind are influenced by situational factors, especially the anxiety evoked by the Story Stem attachment scenarios. Clinical implications regarding mentalisation as a state vs. trait phenomenon are discussed. © The Author(s) 2013.
[Analysis of pathogen spectrum of Encephalitis/Meningitis in northwestern area of China].
Zhang, Xiao-shu; Wang, Xu-xia; Yu, De-shan; Jiang, Jian-xiang; Zhang, Guang-ye; Wang, Fang; Li, Hui
2013-10-01
To learn the characteristics of pathogen spectrum of Encephalitis /Meningitis in northwestern area of China. Between January 1st 2009 and March 31st 2011, a total of 569 patients with clinical symptoms of Encephalitis/Meningitis were selected from the hospitals in Gansu, Qinghai,Inner Mongolia and Xinjiang province. 1514 samples of specimen were collected from the 515 patients, to detect the IgM of Japanese encephalitis virus (JEV), enterovirus (EV, including Coxsackie virus, ECHO virus and enterovirus 71), Mumps virus, Herpes simplex virus (HSV) in blood and cerebrospinal fluid. Meanwhile, Neisseria meningitis (Nm), Haemophilus influenzae Type B (Hib), Staphylococcus, Streptococcus pneumonia, Streptococcus Suis, E. Coli and Cryptococci were also identified. The detection results were analyzed by different region, time and age range. Pathogenic bacteria were identified in the specimen from 16 patients, with the rate at 3.65%, of which the dominant ones were Streptococcus pneumonia (7 patients, 43.75%). Virus were identified in the specimen from 132 patients, with the rate at 27.05%, of which the dominant types were EV and HSV, accounting for 33.33% (44 cases) and 31.82% (42 cases) respectively. The detection rate of virus showed a significant seasonal trend, with the peak appearing between June and November each year. The peak of EV detection was between July and September, with 24 cases detected out; the peak of HSV was between June and August (11 cases detected out); mumps virus was mainly found between July and December (25 cases). There was no significant time-distribution found in the detection of bacteria. The EV and HSV were mainly distributed in Gansu and Qinghai province (70 cases) ;most of mumps virus were found in Gansu province (24 cases);and JEV were only found in Gansu province (20 cases). The viral pathogen spectrum was identified in all ages, and the EV and mumps virus were mainly found in children aged 0-14 years old (42 and 17 cases respectively) ; JEV were identified in people over 15 years old, with 13 detected out of the 20 patients. The main pathogen of acute encephalitis and meningitis in northwestern area of China was virus, and the main pathogens of encephalitis and meningitis in children under 15 years were Herpes simplex virus and Mumps virus.
Miao, Yi; Cao, Lei; Sun, Qian; Li, Xiao-Tong; Wang, Yan; Qiao, Chun; Wang, Li; Wang, Rong; Qiu, Hai-Rong; Xu, Wei; Li, Jian-Yong; Wu, Yu-Jie; Fan, Lei
2018-02-01
The incidence of B-cell chronic lymphoproliferative disorders (B-CLPDs) is significantly lower in China than that in western countries. There have been studies involving small cohorts with conflicting results regarding the spectrum of B-CLPDs in China, and the types and immunophenotyping of B-CLPDs in China remain largely unexplored. We conducted a retrospective analysis of 653 cases of B-CLPDs seen in our centre from 2011 to 2015. Four-colour flow cytometry was used to determine the expression of each immunological marker, and the diagnostic values of the immunological markers were also investigated. Chronic lymphocytic leukaemia (CLL) was the most common type of B-CLPD, which was consistent with that in west countries. However, the proportions of CLL (55.9%), follicular lymphoma (2.6%), and hairy cell leukaemia (0.2%) were lower, while the proportion of lymphoplasmacytic lymphoma/WaldenstrÖm macroglobulinaemia (5.4%) was higher in China, as compared with western countries. With respect to immunophenotypic characteristics, CD23 (31.7%) was more frequently expressed in mantle cell lymphoma (MCL) in our cohort than that in western countries. Immunophenotyping was useful in differentiating MCL from CLL or B-cell prolymphocytic leukaemia and lymphoplasmacytic lymphoma/WaldenstrÖm macroglobulinaemia from splenic marginal zone lymphoma. CD200 was of better diagnostic performance (accuracy: 94.6%) in differentiating CLL from MCL compared with CD23 (accuracy: 93.3%). Some cases of B-CPLDs, however, had no definite diagnoses, which were diagnosed as CD5 + B-CPLDs unclassified (7.7%) and CD5 - B-CPLDs unclassified (15.8%). This is the largest study that systematically explores the spectrum and immunophenotyping of B-CLPDs in Asia, confirming that spectrum of B-CLPDs in China was different from that in western countries. The immunophenotypic features of B-CLPDs were similar between China and western countries, although a few disparities exist. Cases with no definite diagnoses warrant further studies in the future. Copyright © 2017 John Wiley & Sons, Ltd.
Advection-dominated Accretion Flow around a Kerr Black Hole
NASA Astrophysics Data System (ADS)
Manmoto, T.
2000-05-01
The effects of the spin of central black holes on the structure and the spectrum of optically thin, advection-dominated accretion flows (ADAFs) around rotating supermassive black holes are investigated. The global two-temperature structure of ADAFs in the Kerr metric is obtained numerically by solving the full relativistic hydrodynamical equations including the energy equations for the ions and for the electrons. The advected fraction of the dissipated energy is not treated as a parameter and the detailed radiation processes are calculated self-consistently. We find that the two-temperature structure of ADAFs is accurately calculated by setting the advected fraction of the dissipated energy to be unity. We find that the particles are hotter when a is positive than when a=0, while the particles are cooler when a is negative than when a=0. The changes in a have less effect on the electron temperature than on the ion temperature. The spectra of the emitted photons are also calculated by solving the equations of the general relativistic optics. The entire part of the spectra is enhanced when a is positive, while the entire part of the spectra is reduced when a is negative, in comparison with the case of a=0. The spectrum of the synchrotron photons and the Comptonized synchrotron photons are modified more largely by the black hole spin and the inclination angle than the spectrum of the bremsstrahlung photons. The effect of the inclination angle on the spectra increases as the value of a increases. In the case of a=-0.95, the inclination has little effect on the shape of the spectrum. The spectrum of Sgr A* from the radio band to the X-ray band is nicely reproduced with the model of an ADAF around a high-spin black hole. The existence of a high-spin black hole at the Galactic center is not ruled out by the ADAF model.
Testing inflation and curvaton scenarios with CMB distortions
DOE Office of Scientific and Technical Information (OSTI.GOV)
Clesse, Sébastien; Garbrecht, Björn; Zhu, Yi, E-mail: s.clesse@tum.de, E-mail: garbrecht@tum.de, E-mail: yi.zhu@tum.de
2014-10-01
Prior to recombination, Silk damping causes the dissipation of energy from acoustic waves into the monopole of the Cosmic Microwave Background (CMB), resulting in spectral distortions. These can be used to probe the primordial scalar power spectrum on smaller scales than it is possible with CMB anisotropies. An enhancement of power on these scales is nevertheless required for the resulting distortions to be detectable by future experiments like PIXIE. In this paper, we examine all 49 single-field inflation models listed by Martin et al. in the Encyclopaedia Inflationaris [1] and find that only one of these may lead to amore » detectable level of distortions in a tuned region of its parameter space, namely the original hybrid model. Three effective multi-field scenarios are also studied: with softly and suddenly turning trajectories, and with a mild waterfall trajectory. Softly turning trajectories do not induce distortions at any detectable level, whereas a sudden turn in the field space or a mild waterfall trajectory predicts a peak (plus damped oscillations in the sudden turn case) in the scalar power spectrum, which can lead to an observable amount of CMB distortions. Finally, another scenario leading to potentially detectable distortions involves a curvaton whose blue spectrum is subdominant on CMB angular scales and overtakes the inflaton spectrum on smaller scales. In this case however, we show that the bounds from ultra compact minihaloes are not satisfied. Expectations for an ultimate PRISM-class experiment characterized by an improvement in sensitivity by a factor of ten are discussed for some models.« less
Reliability of the ADI-R for the Single Case-Part II: Clinical versus Statistical Significance
ERIC Educational Resources Information Center
Cicchetti, Domenic V.; Lord, Catherine; Koenig, Kathy; Klin, Ami; Volkmar, Fred R.
2014-01-01
In an earlier investigation, the authors assessed the reliability of the ADI-R when multiple clinicians evaluated a single case, here a female 3 year old toddler suspected of having an autism spectrum disorder (Cicchetti et al. in "J Autism Dev Disord" 38:764-770, 2008). Applying the clinical criteria of Cicchetti and Sparrow ("Am J…
ERIC Educational Resources Information Center
Ganz, Jennifer B.; Earles-Vollrath, Theresa L.; Heath, Amy K.; Parker, Richard I.; Rispoli, Mandy J.; Duran, Jaime B.
2012-01-01
Many individuals with autism cannot speak or cannot speak intelligibly. A variety of aided augmentative and alternative communication (AAC) approaches have been investigated. Most of the research on these approaches has been single-case research, with small numbers of participants. The purpose of this investigation was to meta-analyze the single…
What initial condition of inflation would suppress the large-scale CMB spectrum?
Chen, Pisin; Lin, Yu -Hsiang
2016-01-08
There is an apparent power deficit relative to the Λ CDM prediction of the cosmic microwave background spectrum at large scales, which, though not yet statistically significant, persists from WMAP to Planck data. Proposals that invoke some form of initial condition for the inflation have been made to address this apparent power suppression, albeit with conflicting conclusions. By studying the curvature perturbations of a scalar field in the Friedmann-Lemaître-Robertson-Walker universe parameterized by the equation of state parameter w, we find that the large-scale spectrum at the end of inflation reflects the superhorizon spectrum of the initial state. The large-scale spectrummore » is suppressed if the universe begins with the adiabatic vacuum in a superinflation (w < –1) or positive-pressure (w > 0) era. In the latter case, there is however no causal mechanism to establish the initial adiabatic vacuum. On the other hand, as long as the universe begins with the adiabatic vacuum in an era with –1 < w < 0, even if there exists an intermediate positive-pressure era, the large-scale spectrum would be enhanced rather than suppressed. In conclusion, we further calculate the spectrum of a two-stage inflation model with a two-field potential and show that the result agrees with that obtained from the ad hoc single-field analysis.« less
Enhanced relativistic harmonics by electron nanobunching
NASA Astrophysics Data System (ADS)
an der Brügge, D.; Pukhov, A.
2010-03-01
It is shown that when a few-cycle, relativistically intense, p-polarized laser pulse is obliquely incident on overdense plasma, the surface electrons may form ultrathin, highly compressed layers with a width of a few nanometers. These electron "nanobunches" emit synchrotron radiation coherently. We calculate the one-dimensional synchrotron spectrum analytically and obtain a slowly decaying power law with an exponent of 4/3 or 6/5. This is much flatter than the 8/3 power of the Baeva-Gordienko-Pukhov spectrum, produced by a relativistically oscillating bulk skin layer. The synchrotron spectrum cutoff frequency is defined either by the electron relativistic γ-factor or by the thickness of the emitting layer. In the numerically demonstrated, locally optimal case, the radiation is emitted in the form of a single attosecond pulse, which contains almost the entire energy of the full optical cycle.
NASA Technical Reports Server (NTRS)
Agnew, C. E.
1981-01-01
At present, the Federal Communications Commission assigns radio licenses following a determination of the public interest. Whenever mutually conflicting license applications are filed, the Commission holds a comparative hearing. This assignment mechanism is criticized as cumbersome and unrealiable, and three alternatives are proposed: increasing the available spectrum, and either auctions or lotteries of radio licenses. An analysis is presented of the present system and these alternative arrangments for assigning rights to the frequency spectrum for the Multipoint Distribution Service (MDS). Although MDS is a relatively minor radio service, it serves as a prototype for message distribution services with a large potential for use in business communications. Moreover, the way in which the initial batch of MDS licenses was assigned provides a unique opportunity for empirical work on the economics of the licensing process.
Furukawa, Takahiro; Matsui, Naoko; Tanaka, Keiko; Izumi, Yuishin; Kaji, Ryuji
2017-02-25
A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis. She responded to steroid followed by plasma exchange dramatically. Thereafter, the relapse of brain lesion was once detected while tapering of steroid, but her symptoms have been stable for several years after administration of immunosuppressant. This case suggested that salivary gland inflammation might be associated with the pathogenesis of NMOSD.
NASA Astrophysics Data System (ADS)
Gauderis, Tjerk
2014-02-01
This paper addresses the question of how scientists determine which type of hypothesis is most suitable for tackling a particular problem by examining the historical case of the anomalous β spectrum in early nuclear physics (1927-1934), a puzzle that occasioned the most diverse hypotheses amongst physicists at the time. It is shown that such determinations are most often implicitly informed by scientists' individual perspectives on the structural relations between the various elements of the theory and the problem at hand. In addition to this main result, it is suggested that Wolfgang Pauli's neutrino idea may well have been an adaptation of Ernst Rutherford's original and older neutron idea, which would provide evidence that the adaptation of older ideas is a more common practice than is often thought.
An analysis of the role of drift waves in equatorial spread F
NASA Technical Reports Server (NTRS)
Labelle, J.; Kelley, M. C.; Seyler, C. E.
1986-01-01
An account is given of results of rocket measurements of the wave number spectrum of equatorial spread F irregularities, with emphasis on wavelengths less than 100 m. The measurements were made from two sounding rockets launched from Peru as part of Project Condor. The Condor density fluctuation spectra display a break at a wavelength near 100 m, identical to that found in the PLUMEX experiment (Kelley et al., 1982). The Condor data also confirm a subrange in which the density and the wave potential obey the Boltzmann relation - a strong indication of the presence of low-frequency electrostatic waves with finite wavelength parallel to the magnetic field, perhaps low-frequency drift waves as proposed by Kelley et al. The Condor data are also consistent with the previous conjecture that drift waves only exist above 300 km altitude. To investigate the difference in spectra observed over two altitude ranges, the data must be fitted to a form for the power spectrum taken from Keskinen and Ossakow (1981). The fitted spectrum, along with empirically determined growth and dissipation rates, is used to calculate the energy pumped into the spectrum at long wavelengths as well as the energy dissipated at shorter wavelengths. It is found that the energy is balanced by classical collisional effects in the low-altitude case, but energy balance in the high-altitude case requires an enhanced dissipation of about 500 times that due to classical diffusion. The model is consistent with, but does not uniquely imply, an inverse cascade of drift wave turbulence in equatorial spread F.
Deng, Hong-Zhu; You, Cong; Xing, Yu; Chen, Kai-Yun; Zou, Xiao-Bing
2016-05-01
Autism spectrum disorder is a group of neurodevelopmental disorders with the higher prevalence in males. Our previous studies have indicated lower progesterone levels in the children with autism spectrum disorder, suggesting involvement of the cytochrome P-450scc gene (CYP11A1) and cytochrome P-45011beta gene (CYP11B1) as candidate genes in autism spectrum disorder. The aim of this study was to investigate the family-based genetic association between single-nucleotide polymorphisms, rs2279357 in the CYP11A1 gene and rs4534 and rs4541 in the CYP11B1 gene and autism spectrum disorder in Chinese children, which were selected according to the location in the coding region and 5' and 3' regions and minor allele frequencies of greater than 0.05 in the Chinese populations. The transmission disequilibrium test and case-control association analyses were performed in 100 Chinese Han autism spectrum disorder family trios. The genotype and allele frequency of the 3 single-nucleotide polymorphisms had no statistical difference between the children with autism spectrum disorder and their parents (P> .05). Transmission disequilibrium test analysis showed transmission disequilibrium of CYP11A1 gene rs2279357 single-nucleotide polymorphisms (χ(2)= 5.038,P< .001). Our findings provide further support for the hypothesis that a susceptibility gene for autism spectrum disorder exists within or near the CYP11A1 gene in the Han Chinese population. © The Author(s) 2015.
Winkelhorst, Dian; Kamphuis, Marije M; de Kloet, Liselotte C; Zwaginga, Jaap Jan; Oepkes, Dick; Lopriore, Enrico
2016-05-01
The most feared bleeding complication in fetal and neonatal alloimmune thrombocytopenia (FNAIT) is an intracranial hemorrhage (ICH). However, FNAIT may also lead to other severe bleeding problems. The aim was to analyze this spectrum and evaluate the occurrence of severe hemorrhages other than ICH in fetuses or neonates with FNAIT. A retrospective chart analysis of cases of FNAIT presenting with severe bleeding complications other than ICH at our institution from 1990 to 2015 was conducted. Additionally, a review of the literature was performed to identify case reports and case series on FNAIT presenting with extracranial hemorrhage. Of 25 fetuses or neonates with severe bleeding due to FNAIT, three had isolated severe internal organ hemorrhage other than ICH, two pulmonary hemorrhages and one gastrointestinal hemorrhage. Two of these three neonates died due to this bleeding. Eighteen cases of extracranial bleeding complications as a first presentation of FNAIT were found in the literature, including ocular, gastrointestinal, spinal cord, pulmonary, renal, subgaleal, and genitourinary hemorrhages. Bleeding complications other than ICH may be more extensive, and the presentation of FNAIT may have a greater spectrum than previously described. A high index of suspicion on the possible diagnosis of FNAIT with any bleeding complication in a fetus or neonate may enable adequate diagnostics, adequate treatment, and appropriate follow-up in future pregnancies, as is especially relevant for FNAIT. © 2016 AABB.