Multiclass Bayes error estimation by a feature space sampling technique

NASA Technical Reports Server (NTRS)

Mobasseri, B. G.; Mcgillem, C. D.

1979-01-01

A general Gaussian M-class N-feature classification problem is defined. An algorithm is developed that requires the class statistics as its only input and computes the minimum probability of error through use of a combined analytical and numerical integration over a sequence simplifying transformations of the feature space. The results are compared with those obtained by conventional techniques applied to a 2-class 4-feature discrimination problem with results previously reported and 4-class 4-feature multispectral scanner Landsat data classified by training and testing of the available data.

Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.

PubMed

Haga, N; Nakamura, K; Taniguchi, K; Nakamura, S

1998-01-01

We report a girl with multiple enchondromatosis, unequal leg length, short stature, congenital scoliosis, lymphangioma, and cutaneous hemangiomata. The skeletal findings were consistent with the clinical and radiological features of dysspondyloenchondromatosis except that short stature was not apparent in the neonatal period. Dysspondyloenchondromatosis is a rare disorder, one of the several types of multiple enchondromatosis with spinal abnormalities. In previous reports of this condition the association of vascular lesions usually found in Maffucci syndrome has not been described.

The Role of Attention in the Binding of Surface Features to Locations

PubMed Central

Hyun, Joo-seok; Woodman, Geoffrey F.; Luck, Steven J.

2013-01-01

Previous studies have proposed that attention is not necessary for detecting simple features but is necessary for binding them to spatial locations. The present study tested this hypothesis, using the N2pc component of the event-related potential waveform as a measure of the allocation of attention. A simple feature detection condition, in which observers reported whether a target color was present or not, was compared with feature-location binding conditions, in which observers reported the location of the target color. A larger N2pc component was observed in the binding conditions than in the detection condition, indicating that additional attentional resources are needed to bind a feature to a location than to detect the feature independently of its location. This finding supports theories of attention in which attention plays a special role in binding features. PMID:24235876

Nerve Sheath Myxoma: Report of A Rare Case

PubMed Central

Bhat, Amoolya; C, Vijaya; VK, Sundeep

2015-01-01

Nerve sheath myxoma defined by Harkin and Reed is an uncommon benign neoplasm with nerve sheath like features. It has several cytological and histological differential diagnoses. One such lesion is neurothekeoma, which can be differentiated using immunohistochemistry. In most of the previous reports nerve sheath myxoma and neurothekeoma were considered synonymous and were often confused for one another. This case report separates the two using immunohistochemistry. Also, the cytological features of nerve sheath myxoma are not well documented in the past. This case report attempts to display the cyto-morphology of nerve sheath myxoma. We report a rare case of nerve sheath myxoma diagnosed on cytological features confirmed by histopathology and immunohistochemistry in a 32-year-old lady who presented with an asymptomatic nodule over the left cervical area and discuss its cyto-histological mimics. PMID:26023558

Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosis.

PubMed Central

Boutin, B; Routon, M C; Rocchiccioli, F; Mayer, M; Leverger, G; Robain, O; Ponsot, G; Arthuis, M

1988-01-01

A 12 year old patient who developed clinical, biochemical and histological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature was a subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction of myelinated fibres and severe axonal lesions, absence of histiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemia previously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid was found which suggests a transient impairment of peroxisomal functions. Images PMID:3346698

Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14

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

Mullan, M.; Bennett, C.; Figueredo, C.

1995-02-27

Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onsetmore » disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.« less

Ameloblastic fibrosarcoma. Report of a case in a Nigerian.

PubMed

Adekeye, E O; Edwards, M B; Goubran, G F

1978-08-01

Ameloblastic fibrosarcoma is very rare and has not previously been reported from Nigeria. The case described here had typical clinical features, but the microscopic findings were unusual and difficult to interpret. The pathogenetic relationship between ameloblastic fibroma and fibrosarcoma is discussed.

Geotextile strips as a reflective crack treatment for AC over AC : final report.

DOT National Transportation Integrated Search

1990-02-01

This report covers an experimental feature where a geotextile fabric was used in an attempt to retard reflective cracking over severe thermal cracks. the application evaluated here is different from previous geotextile use in Oregon. It is the first ...

Outward Motions of SiO Masers around VX Sgr

NASA Astrophysics Data System (ADS)

Su, J. B.; Shen, Z.-Q.; Chen, X.; Jiang, D. R.

2014-09-01

We report the proper motions of SiO maser features around VX Sgr from the two-epoch VLBA observations (2006 December 15 and 2007 August 19). The majority of maser feature activities show a trend of outward motions. It is consistent with our previous finding that the outflow may play an important role for SiO maser pumping.

Multiple squamous hyperplastic-fibrous inflammatory polyps of the oesophagus: a new feature of eosinophilic oesophagitis?

PubMed

Mulder, D J; Gander, S; Hurlbut, D J; Soboleski, D A; Smith, R G; Justinich, C J

2009-09-01

This report describes the unusual case of a 12-year-old boy with multiple polyps in the oesophagus and concurrent eosinophilic oesophagitis (EoE). Polyps were of a fibrous-inflammatory composition featuring eosinophils, mast cells, hyperplastic epithelium and fibrosis, which are all features described with EoE. EoE is an increasingly recognised clinicopathological disorder characterised by large numbers of eosinophils infiltrating the oesophageal mucosa. Polyps in the oesophagus are rare, have not previously been associated with EoE, and may represent a new feature of the disease.

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

Thompson, J.M.; Yadav, S.

Waters from geysers, hot springs, and pools of Yellowstone National Park have been analyzed. We report 422 complete major ion analyses from 330 different locations of geysers, hot springs, and pools, collected from 1974 to 1978. Many of the analyses from Upper, Midway, Lower, and Norris Geyser Basin are recollections of features previously reported.

A re-evaluation of laser heterodyne radiometer ClO measurements. [for stratospheric chemistry studies

NASA Technical Reports Server (NTRS)

Menzies, R. T.

1983-01-01

Previously reported measurements of stratospheric ClO using a balloon-borne laser heterodyne radiometer, launched from Palestine, Texas, are re-evaluated as a result of recent spectroscopic data. A spectral feature which was observed during September, 1978 and November, 1979 flights was incorrectly identified as a ClO absorption line, while a second feature observed during the latter flight with somewhat limited sensitivity is now believed to be due to ClO. This new interpretation results in a measured ClO profile which falls off more rapidly with decreasing altitude than the previous results indicated.

Mental Retardation and the Law: A Report on Status of Current Court Cases. July 1978.

ERIC Educational Resources Information Center

President's Committee on Mental Retardation, Washington, DC.

The issue contains reports on seven new court cases regarding mental retardation and the law and updated information on 35 cases previously reported. Cases concern such issues as classification, commitment, education, employment, sterilization, and treatment. Also included is a feature article on the implications of Halderman v Pennhurst State…

Dermoscopic findings and histological correlation of the acral volar pigmented maculae in Laugier-Hunziker syndrome.

PubMed

Sendagorta, Elena; Feito, Marta; Ramírez, Paloma; Gonzalez-Beato, María; Saida, Toshiaki; Pizarro, Angel

2010-11-01

Laugier-Hunziker syndrome (LHS) is an acquired, benign, macular hyperpigmentation of the lips and oral mucosa, often associated with pigmentation of the nails. Volar acral maculae on the palms and fingertips of patients affected by LHS are a typical feature of this rare entity. Dermoscopic examination of these maculae has been described in a previous report, in which authors found a parallel-furrow pattern. We describe two cases in which a parallel-ridge pattern (PRP) was found on the dermoscopic examination of the pigmented acral lesions. Histological examination showed increased melanin in basal keratinocytes, which was most prominent in those located at the crista intermedia profunda, that is, in the epidermal rete ridges underlying the surface ridges. In our study, dermoscopic features of the pigmented maculae found on LHS differed from those previously described. In addition, by means of this case report, the histological features of these lesions are described for the first time, showing an excellent correlation with dermoscopy. The reported cases prove that although the PRP is very specific of melanoma, it is also possible to find it in benign lesions. Therefore, we must be familiar with the differential diagnosis of PRP, and take into consideration the clinical context in which we find it. Further studies are needed to increase our knowledge on the histological and dermoscopic features of acral pigmented maculae of LHS. © 2010 Japanese Dermatological Association.

Oral polyp as the presenting feature of Beckwith-Wiedemann syndrome in a child

PubMed Central

Kujan, Omar; Raheel, Syed Ahmed; King, David; Iqbal, Fareed

2015-01-01

Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder characterised by abdominal wall defects, macroglossia and somatic gigantism. A number of associated features, including gastrointestinal and urinary tract polyps, have been described, but there are no previous reports of oral polyps occurring in this syndrome. We describe the first case of BWS presenting with an oral polyp. Clinicians should be alert to the possibility of BWS if other features of the syndrome are present, in children with oral polyps. PMID:26323977

The clinical spectrum of late-onset Alexander disease: a systematic literature review.

PubMed

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.

Linear feature extraction from radar imagery: SBIR (Small Business Innovative Research), phase 2, option 2

NASA Astrophysics Data System (ADS)

Milgram, David L.; Kahn, Philip; Conner, Gary D.; Lawton, Daryl T.

1988-12-01

The goal of this effort is to develop and demonstrate prototype processing capabilities for a knowledge-based system to automatically extract and analyze features from Synthetic Aperture Radar (SAR) imagery. This effort constitutes Phase 2 funding through the Defense Small Business Innovative Research (SBIR) Program. Previous work examined the feasibility of and technology issues involved in the development of an automated linear feature extraction system. This final report documents this examination and the technologies involved in automating this image understanding task. In particular, it reports on a major software delivery containing an image processing algorithmic base, a perceptual structures manipulation package, a preliminary hypothesis management framework and an enhanced user interface.

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

PubMed

Vaz, Sara O; Pires, Renato; Pires, Luís M; Carreira, Isabel M; Anjos, Rui; Maciel, Paula; Mota-Vieira, Luisa

2015-08-22

The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thymic hypoplasia, characteristic face, hypocalcemia, cognitive delay, palatal defects, velopharyngeal insufficiency, and other malformations, the microduplication syndrome is largely undetected. This is mainly because phenotypic appearance is variable, milder, less characteristic and unpredictable. In this paper, we report the clinical evaluation and follow-up of two patients affected by 22q11.2 rearrangements, emphasizing new phenotypic features associated with duplication and triplication of this genomic region. Patient 1 is a 24 year-old female with 22q11.2 duplication who has a heart defect (ostium secundum atrial septal defect) and supernumerary teeth (hyperdontia), a feature previously not reported in patients with 22q11.2 microduplication syndrome. Her monozygotic twin sister, who died at the age of one month, had a different heart defect (truncus arteriousus). Patient 2 is a 20 year-old female with a 22q11.2 triplication who had a father with 22q11.2 duplication. In comparison to the first case reported in the literature, she has an aggravated phenotype characterized by heart defects (restrictive VSD and membranous subaortic stenosis), and presented other facial dysmorphisms and urogenital malformations (ovarian cyst). Additionally, she has a hemangioma planum on the right side of her face, a feature of Sturge-Weber syndrome. In this report, we described hyperdontia as a new feature of 22q11.2 microdeletion syndrome. Moreover, this syndrome was diagnosed in a patient who had a deceased monozygotic twin affected with a different heart defect, which corresponds to a phenotypic discordance never reported in the literature. Case 2 is the second clinical report of 22q11.2 triplication and presents an aggravated phenotype in contrast to the patient previously reported.

Assessing the Affective Features of Psychopathy in Adolescence: A Further Validation of the Inventory of Callous and Unemotional Traits

ERIC Educational Resources Information Center

Roose, Annelore; Bijttebier, Patricia; Decoene, Stefaan; Claes, Laurence; Frick, Paul J.

2010-01-01

To provide an extended assessment of the affective features of psychopathy, Frick developed the Inventory of Callous and Unemotional Traits (ICU), which is a multi-informant questionnaire. Previous studies have provided initial support for the self-report version. The aim of the present study is to investigate the validity of self- as well as…

Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

PubMed Central

Russell, Bianca; Johnston, Jennifer J; Biesecker, Leslie G.; Kramer, Nancy; Pickart, Angela; Rhead, William; Tan, Wen-Hann; Brownstein, Catherine A; Clarkson, L Kate; Dobson, Amy; Rosenberg, Avi Z; Schrier Vergano, Samantha A.; Helm, Benjamin M.; Harrison, Rachel E; Graham, John M

2016-01-01

Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported. PMID:25921057

Familiarity from the configuration of objects in 3-dimensional space and its relation to déjà vu: a virtual reality investigation.

PubMed

Cleary, Anne M; Brown, Alan S; Sawyer, Benjamin D; Nomi, Jason S; Ajoku, Adaeze C; Ryals, Anthony J

2012-06-01

Déjà vu is the striking sense that the present situation feels familiar, alongside the realization that it has to be new. According to the Gestalt familiarity hypothesis, déjà vu results when the configuration of elements within a scene maps onto a configuration previously seen, but the previous scene fails to come to mind. We examined this using virtual reality (VR) technology. When a new immersive VR scene resembled a previously-viewed scene in its configuration but people failed to recall the previously-viewed scene, familiarity ratings and reports of déjà vu were indeed higher than for completely novel scenes. People also exhibited the contrasting sense of newness and of familiarity that is characteristic of déjà vu. Familiarity ratings and déjà vu reports among scenes recognized as new increased with increasing feature-match of a scene to one stored in memory, suggesting that feature-matching can produce familiarity and déjà vu when recall fails. Copyright © 2012 Elsevier Inc. All rights reserved.

Mental Retardation and the Law: A Report on Status of Current Court Cases.

ERIC Educational Resources Information Center

Friedman, Paul R.; Beck, Ronna Lee

Featured in the issue is an analysis of the Supreme Court's decision on O'Connor v. Donaldson, and provided are updated summaries of 104 cases previously reported in the publication. Reviewed are cases on the following topic areas: architectural barriers, classification, commitment, custody, education, employment, guardianship, protection from…

Mental Retardation and the Law: A Report on Status of Current Court Cases.

ERIC Educational Resources Information Center

President's Committee on Mental Retardation, Washington, DC.

Featured in the issue is an analysis of the consent Decree in New York State Association for Retarded Children v. Carey (Willowbrook case). In addition, summaries and updated information are presented for 25 new cases and 34 cases previously reported regarding the following topics: architectural barriers, classification, commitment, custody,…

Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

PubMed

Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

2014-12-01

Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

Primary Ewing's sarcoma of vulva: a case report and a review of the literature.

PubMed

Che, Shao-Min; Cao, Pei-Long; Chen, Hong-Wei; Liu, Zi; Meng, Du

2013-03-01

Ewing sarcomas/peripheral primitive neuroectodermal tumors (ES/pPNET) are extremely rare in the vulva. A review of the literature reveals only 14 previously reported possible cases. Here we reported a case of primary extraskeletal Ewing's sarcoma (EES) of the vulva in a 37-year-old woman. Characteristic histologic features of ES/pPNET were present in this case, including a monomorphic population of small round blue cells with cytoplasmic glycogen confirmed by periodic acid-Schiff, membrane staining with CD99 and nuclear staining with FLI-1. After surgery, the patient was found to have pulmonary metastasis and then received six cycles of polychemotherapy. She is still alive with stable disease after 1 year of follow up. Our findings underline the crucial role of immunohistochemical techniques in the differential diagnosis of small round cell tumors in these unusual locations. We also give a summary about the clinical and pathological features of the primary ES/pPNET in the vulva reported previously in the literature. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

Magnetic resonance imaging features of esthesioneuroblastoma in three dogs and one cat.

PubMed

Söffler, Charlotte; Hartmann, Antje; Gorgas, Daniela; Ludewig, Eberhard; von Pückler, Kerstin; Kramer, Martin; Schmidt, Martin J

2016-10-12

Esthesioneuroblastoma is a rare malignant intranasal tumor that originates from the olfactory neuroepithelium of the upper nasal cavity, and can destroy the cribriform plate and expand into the neurocranium. Descriptions of the magnetic resonance features of esthesioneuroblastomas in animals are scarce. The objectives of this study were to report the magnetic resonance imaging features of esthesioneuroblastomas in order to determine distinct imaging characteristics that may help distinguish it from other intracranial tumor types. Magnetic resonance images of four patients with confirmed esthesioneuroblastomas were reviewed and compared with previously reported cases. The esthesioneuroblastomas appeared as oval-shaped, solitary lesions in the caudal nasal cavity that caused osteolysis of the cribriform plate and extended into the brain in all cases. Signal intensity was variable. Contrast enhancement was mild and varied from homogeneous to heterogeneous. A peripheral cystic component was found in two patients and was reported in only one previous case. Mass effect and white matter edema were marked to severe. Osteolysis of facial bones and extension into the facial soft tissues or retrobulbar space were not present in any of the cases, although this has been reported in the literature. A definitive diagnosis of esthesioneuroblastoma based on signal intensity or contrast behavior was not possible. Nevertheless, the presence of a mass in the caudal nasal cavity with extension into the neurocranium seems to be a feature highly suspicious of esthesioneuroblastoma. In contrast to other extra-cranial lesions, the extra-cranial mass was relatively small and destruction of facial bones seems to be rare.

Linear feature extraction from radar imagery: SBIR (Small Business Innovative Research) phase 2, option 1

NASA Astrophysics Data System (ADS)

Conner, Gary D.; Milgram, David L.; Lawton, Daryl T.; McConnell, Christopher C.

1988-04-01

The goal of this effort is to develop and demonstrate prototype processing capabilities for a knowledge-based system to automatically extract and analyze linear features from synthetic aperture radar (SAR) imagery. This effort constitutes Phase 2 funding through the Defense Small Business Innovative Research (SBIR) Program. Previous work examined the feasibility of the technology issues involved in the development of an automatedlinear feature extraction system. This Option 1 Final Report documents this examination and the technologies involved in automating this image understanding task. In particular, it reports on a major software delivery containing an image processing algorithmic base, a perceptual structures manipulation package, a preliminary hypothesis management framework and an enhanced user interface.

Constitutional trisomy 8 mosaicism syndrome: case report and review

PubMed Central

Udayakumar, Achandira M.; Al-Kindy, Adila

2013-01-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder. PMID:27625859

Constitutional trisomy 8 mosaicism syndrome: case report and review.

PubMed

Udayakumar, Achandira M; Al-Kindy, Adila

2013-12-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

Personalised Virtual Learning Spaces to Support Undergraduates in Producing Research Reports: Two Case Studies

ERIC Educational Resources Information Center

Kallkvist, Marie; Gomez, Stephen; Andersson, Holger; Lush, David

2009-01-01

The purpose of this study was to create and evaluate personalised virtual learning spaces (PVLSs) in a course that was previously delivered face-to-face only. The study addressed three related questions: (1) Can a PVLS successfully be introduced into a course where IT has not previously featured? (2) Can the PVLSs be used to enhance the assessment…

Refractory Access Disorders and the Organization of Concrete and Abstract Semantics: Do they Differ?

PubMed Central

Hamilton, A. Cris; Coslett, H. Branch

2010-01-01

Patients with “refractory semantic access deficits” demonstrate several unique features that make them important sources of insight into the organization of semantic representations. Here we attempt to replicate several novel findings from single-case studies reported in the literature. Patient UM– 103 displays the cardinal features of a “refractory semantic access deficit” and showed many of the same effects of semantic relatedness reported in the literature. However, when probing concrete and abstract words, this patient revealed very different patterns of performance compared to two previously reported patients. We discuss the implications of our data for models of semantic organization of abstract and concrete words. PMID:18569737

Report of a trisomy 8p infant with carrier father.

PubMed

Funderburk, S J; Barrett, C T; Klisak, I

1978-12-01

This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.

Hepatobiliary fascioliasis: a case with unusual radiological features.

PubMed

Yeşildağ, Ahmet; Senol, Altuğ; Köroğlu, Mert; Koçkar, Cem; Oyar, Orhan; Işler, Mehmet

2010-12-01

We report a case of hepatobiliary fascioliasis presenting with unusual radiological findings that have not been reported previously. Imaging studies revealed hepatic cystic pouches communicating with intrahepatic bile ducts. Snail-like, oval shaped and conglomerated echogenic particles with no acoustic shadowing, suggesting F. hepatica, were detected in these cystic pouches. In addition, secondary sclerosing cholangitis developed after fascioliasis.

Unidentified emission features in the R Coronae Borealis star V854 Centauri

NASA Astrophysics Data System (ADS)

Oostrum, L. C.; Ochsendorf, B. B.; Kaper, L.; Tielens, A. G. G. M.

2018-02-01

During its 2012 decline, the R Coronae Borealis star (RCB) V854 Cen was spectroscopically monitored with X-shooter on the ESO Very Large Telescope. The obscured optical and near-infrared spectrum exhibits many narrow and several broad emission features, as previously observed. The envelope is spatially resolved along the slit and allows for a detailed study of the circumstellar material. In this Letter, we report on the properties of a number of unidentified visual emission features (UFs), including the detection of a new feature at 8692 Å. These UFs have been observed in the Red Rectangle (RR), but their chemical and physical nature is still a mystery. The previously known UFs behave similarly in the RR and in V854 Cen, but are not detected in six other observed RCBs. Some hydrogen might be required for the formation of their carrier(s). The λ8692 UF is present in all RCBs. Its carrier is likely of a carbonaceous molecular nature, presumably different from that of the other UFs.

Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

PubMed

Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

2016-01-01

We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

Atypical β-Catenin Activated Child Hepatocellular Tumor

PubMed Central

Unlu, Havva Akmaz; Karakus, Esra; Yazal Erdem, Arzu; Yakut, Zeynep Ilerisoy

2015-01-01

Hepatocellular adenomas are a benign, focal, hepatic neoplasm that have been divided into four subtypes according to the genetic and pathological features. The β-catenin activated subtype accounts for 10-15% of all hepatocellular adenomas and specific magnetic resonance imaging features have been defined for different hepatocellular adenomas subtypes. The current study aimed to report the magnetic resonance imaging features of a well differentiated hepatocellular carcinoma that developed on the basis of β-catenin activated hepatocellular adenomas in a child. In this case, atypical diffuse steatosis was determined in the lesion. In the literature, diffuse steatosis, which is defined as a feature of the hepatocyte nuclear factor-1α-inactivated hepatocellular adenomas subtype, has not been previously reported in any β-catenin activated hepatocellular adenomas case. Interlacing magnetic resonance imaging findings between subtypes show that there are still many mysteries about this topic and larger studies are warranted. PMID:26157702

Programs for generating data tables for the annual water-resources data report of the U.S. Geological Survey

USGS Publications Warehouse

Mason, R.R.; Hill, C.L.

1988-01-01

The U.S. Geological Survey has developed software that interfaces with the Automated Data Processing System to facilitate and expedite preparation of the annual water-resources data report. This software incorporates a feature that prepares daily values tables and appends them to previously edited files containing station manuscripts. Other features collate the merged files with miscellaneous sections of the report. The report is then printed as page-size, camera-ready copy. All system components reside on a minicomputer; this provides easy access and use by remote field offices. Automation of the annual report preparation process results in significant savings of labor and cost. Use of the system for producing the 1986 annual report in the North Carolina District realized a labor savings of over two man-months. A fully implemented system would produce a greater savings and speed release of the report to users.

Constraints on formation processes of two coarse-grained calcium- aluminum-rich inclusions: a study of mantles, islands and cores

USGS Publications Warehouse

Meeker, G.P.

1995-01-01

Many coarse-grained calcium- aluminum-rich inclusions (CAIs) contain features that are inconsistent with equilibrium liquid crystallization models of origin. Spinel-free islands (SFIs) in spinel-rich cores of Type B CAIs are examples of such features. One model previously proposed for the origin of Allende 5241, a Type B1 CAI containing SFIs, involves the capture and assimilation of xenoliths by a liquid droplet in the solar nebula (El Goresy et al, 1985; MacPherson et al 1989). This study reports new textural and chemical zoning data from 5241 and identifies previously unrecognized chemical zoning patterns in the melilite mantle and in a SFI. -from Author

Unusual progression and subsequent improvement in cystic lung disease in a child with radiation-induced lung injury

PubMed Central

Wolf, Michael S.; Chadha, Ashley D.; Carroll, Clinton M.; Borinstein, Scott C.

2014-01-01

Radiation-induced lung disease is a known complication of therapeutic lung irradiation, but the features have not been well described in children. We report the clinical, radiologic and histologic features of interstitial lung disease (ILD) in a 4-year-old child who had previously received lung irradiation as part of successful treatment for metastatic Wilms tumor. Her radiologic abnormalities and clinical symptoms developed in an indolent manner. Clinical improvement gradually occurred with corticosteroid therapy. However, the observed radiologic progression from interstitial and reticulonodular opacities to diffuse cystic lung disease, with subsequent improvement, is striking and has not been previously described in children. PMID:25434733

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

PubMed

Thiffault, Isabelle; Saunders, Carol; Jenkins, Janda; Raje, Nikita; Canty, Kristi; Sharma, Mukta; Grote, Lauren; Welsh, Holly I; Farrow, Emily; Twist, Greyson; Miller, Neil; Zwick, David; Zellmer, Lee; Kingsmore, Stephen F; Safina, Nicole P

2015-05-07

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E. This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.

Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1.

PubMed

Shvartsbeyn, Marianna; Bassani, Luigi; Mikolaenko, Irina; Wisoff, Jeffrey H

2011-10-01

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

PubMed

Lin, Henry C; Le Hoang, Phuc; Hutchinson, Anne; Chao, Grace; Gerfen, Jennifer; Loomes, Kathleen M; Krantz, Ian; Kamath, Binita M; Spinner, Nancy B

2012-05-01

Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged1 (JAG1) or NOTCH2. In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which are novel, including the third reported NOTCH2 mutation in Alagille Syndrome. The spectrum of JAG1 mutations in the Vietnamese patients is similar to that previously reported, including nine frameshift, three missense, two splice site, one nonsense, two whole gene, and one partial gene deletion. The missense mutations are all likely to be disease causing, as two are loss of cysteines (C22R and C78G) and the third creates a cryptic splice site in exon 9 (G386R). No correlation between genotype and phenotype was observed. Assessment of clinical phenotype revealed that skeletal manifestations occur with a higher frequency than in previously reported Alagille cohorts. Facial features were difficult to assess and a Vietnamese pediatric gastroenterologist was only able to identify the facial phenotype in 61% of the cohort. To assess the agreement among North American dysmorphologists at detecting the presence of ALGS facial features in the Vietnamese patients, 37 clinical dysmorphologists evaluated a photographic panel of 20 Vietnamese children with and without ALGS. The dysmorphologists were unable to identify the individuals with ALGS in the majority of cases, suggesting that evaluation of facial features should not be used in the diagnosis of ALGS in this population. This is the first report of mutations and phenotypic spectrum of ALGS in a Vietnamese population. Copyright © 2012 Wiley Periodicals, Inc.

Alteration textures in terrestrial volcanic glass and the associated bacterial community.

PubMed

Cockell, C S; Olsson-Francis, K; Herrera, A; Meunier, A

2009-01-01

Alteration textures were examined in subglacial (hyaloclastite) deposits at Valafell, Southern Iceland. Pitted and 'elongate' alteration features are observed in the glass similar to granular and tubular features reported previously in deep-ocean basaltic glasses, but elongate features generally did not have a length to width ratio greater than five. Elongate features were found in only 7% of surfaces. Crystalline basalt clasts, which are incorporated into the hyaloclastite, did not display elongate structures. Pitted alteration features were poorly defined in crystalline basalt, comprising only 4% of the surface compared to 47% in the case of basaltic glass. Examination of silica-rich glass (obsidian) and rhyolite similarly showed poorly defined pitted textures that comprised less than 15% of the surface and no elongate features were observed. These data highlight the differences in alteration textures between terrestrial basaltic glass and previously studied deep-ocean and subsurface basaltic glass, and the important role of mineralogy in controlling the type and abundance of alteration features. The hyaloclastite contains a diverse and abundant bacterial population, as determined by 16S rDNA analysis, which could be involved in weathering the glass. Despite the presence of phototrophs, we show that they were not involved in the production of most alteration textures in the basaltic glass materials we examined.

Asymmetric synthesis and in vitro and in vivo activity of tetrahydroquinolines featuring a diverse set of polar substitutions at the 6 position as mixed-efficacy μ opioid receptor/δ opioid receptor ligands.

PubMed

Bender, Aaron M; Griggs, Nicholas W; Anand, Jessica P; Traynor, John R; Jutkiewicz, Emily M; Mosberg, Henry I

2015-08-19

We previously reported a small series of mixed-efficacy μ opioid receptor (MOR) agonist/δ opioid receptor (DOR) antagonist peptidomimetics featuring a tetrahydroquinoline scaffold and showed the promise of this series as effective analgesics after intraperitoneal administration in mice. We report here an expanded structure-activity relationship study of the pendant region of these compounds and focus in particular on the incorporation of heteroatoms into this side chain. These analogues provide new insight into the binding requirements for this scaffold at MOR, DOR, and the κ opioid receptor (KOR), and several of them (10j, 10k, 10m, and 10n) significantly improve upon the overall MOR agonist/DOR antagonist profile of our previous compounds. In vivo data for 10j, 10k, 10m, and 10n are also reported and show the antinociceptive potency and duration of action of compounds 10j and 10m to be comparable to those of morphine.

Granulomatous lobular mastitis.

PubMed

Miliauskas, J R; Pieterse, A S; Williams, R S

1995-02-01

Two cases of benign lobular granulomatous mastitis, both clinically felt to be carcinoma, are reported. One patient was cured by local excision of the mass while the other was cured by oral prednisolone, demonstrating the variable ways to treat this entity. The clinical and histological features were similar to those noted in previous reports. Immunological studies revealed predominantly stromal T lymphocytes and only duct intra-epithelial T lymphocytes.

Peeling skin syndrome.

PubMed

Ilknur, Turna; Demirtaşoğlu, Melda; Akarsu, Sevgi; Lebe, Banu; Güneş, Ali Tahsin; Ozkan, Sebnem

2006-01-01

Peeling skin syndrome is a rare disease characterized by widespread painless peeling of the skin. To date, several cases have been described with different clinical features called peeling skin syndrome. Previous reports describe two types (type A and type B) of peeling skin syndrome, both of which show generalized desquamation, sparing palms and soles. We report a 23-year old man who has been classified as neither type A nor type B, and whose history, clinical features and histopathological findings led to a diagnosis of peeling skin syndrome. In addition, the desquamation pattern in our patient was different from that of both types because our case's palms and soles were involved too.

Comparison of Feature Selection Techniques in Machine Learning for Anatomical Brain MRI in Dementia.

PubMed

Tohka, Jussi; Moradi, Elaheh; Huttunen, Heikki

2016-07-01

We present a comparative split-half resampling analysis of various data driven feature selection and classification methods for the whole brain voxel-based classification analysis of anatomical magnetic resonance images. We compared support vector machines (SVMs), with or without filter based feature selection, several embedded feature selection methods and stability selection. While comparisons of the accuracy of various classification methods have been reported previously, the variability of the out-of-training sample classification accuracy and the set of selected features due to independent training and test sets have not been previously addressed in a brain imaging context. We studied two classification problems: 1) Alzheimer's disease (AD) vs. normal control (NC) and 2) mild cognitive impairment (MCI) vs. NC classification. In AD vs. NC classification, the variability in the test accuracy due to the subject sample did not vary between different methods and exceeded the variability due to different classifiers. In MCI vs. NC classification, particularly with a large training set, embedded feature selection methods outperformed SVM-based ones with the difference in the test accuracy exceeding the test accuracy variability due to the subject sample. The filter and embedded methods produced divergent feature patterns for MCI vs. NC classification that suggests the utility of the embedded feature selection for this problem when linked with the good generalization performance. The stability of the feature sets was strongly correlated with the number of features selected, weakly correlated with the stability of classification accuracy, and uncorrelated with the average classification accuracy.

Advanced liner-cooling techniques for gas turbine combustors

NASA Technical Reports Server (NTRS)

Norgren, C. T.; Riddlebaugh, S. M.

1985-01-01

Component research for advanced small gas turbine engines is currently underway at the NASA Lewis Research Center. As part of this program, a basic reverse-flow combustor geometry was being maintained while different advanced liner wall cooling techniques were investigated. Performance and liner cooling effectiveness of the experimental combustor configuration featuring counter-flow film-cooled panels is presented and compared with two previously reported combustors featuring: splash film-cooled liner walls; and transpiration cooled liner walls (Lamilloy).

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

PubMed

Baldi, C; Bertoli-Avella, A M; Al-Sannaa, N; Alfadhel, M; Al-Thihli, K; Alameer, S; Elmonairy, A A; Al Shamsi, A M; Abdelrahman, H A; Al-Gazali, L; Shawli, A; Al-Hakami, F; Yavuz, H; Kandaswamy, K K; Rolfs, A; Brandau, O; Bauer, P

2018-05-01

Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole-exome or whole-genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in 3 and 2 unrelated index cases, respectively; the novel c.608G>A variant was identified in a sixth patient. All variants were homozygous in affected family members only. Our patients share a primary diagnosis of psychomotor delay, and they show spastic quadriparesis, nystagmus and hypotonia. Seizures and dysmorphic features (observed in 2 families each) represent an addition to the phenotype, while developmental regression (observed in 3 families) appears to be a notable and previously underestimated clinical feature. Our findings extend the clinical and mutational spectra associated with this novel form of HLD. Comparative analysis of our 10 patients and the 15 reported previously did, however, not reveal clear evidence for a genotype-phenotype correlation. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Orbital floor triamcinolone causing Cushing's syndrome in a patient treated with Kaletra for HIV 1

PubMed Central

McConkey, Hannah Zelie Ruth; Williams, Helen; Kulasegaram, Ranjababu; Graham, Elizabeth

2013-01-01

We report the first known case of iatrogenic cushingoid features following orbital floor triamcinolone, a synthetic corticosteroid, in a patient taking Kaletra (200 mg lopinavir/50 mg ritonavir) twice daily and Truvada (tenofovir/emtricitabine) once daily for HIV 1. Previous reports have included similar findings following epidural triamcinolone injections and with inhaled fluticasone. PMID:23440982

Spoof Detection for Finger-Vein Recognition System Using NIR Camera.

PubMed

Nguyen, Dat Tien; Yoon, Hyo Sik; Pham, Tuyen Danh; Park, Kang Ryoung

2017-10-01

Finger-vein recognition, a new and advanced biometrics recognition method, is attracting the attention of researchers because of its advantages such as high recognition performance and lesser likelihood of theft and inaccuracies occurring on account of skin condition defects. However, as reported by previous researchers, it is possible to attack a finger-vein recognition system by using presentation attack (fake) finger-vein images. As a result, spoof detection, named as presentation attack detection (PAD), is necessary in such recognition systems. Previous attempts to establish PAD methods primarily focused on designing feature extractors by hand (handcrafted feature extractor) based on the observations of the researchers about the difference between real (live) and presentation attack finger-vein images. Therefore, the detection performance was limited. Recently, the deep learning framework has been successfully applied in computer vision and delivered superior results compared to traditional handcrafted methods on various computer vision applications such as image-based face recognition, gender recognition and image classification. In this paper, we propose a PAD method for near-infrared (NIR) camera-based finger-vein recognition system using convolutional neural network (CNN) to enhance the detection ability of previous handcrafted methods. Using the CNN method, we can derive a more suitable feature extractor for PAD than the other handcrafted methods using a training procedure. We further process the extracted image features to enhance the presentation attack finger-vein image detection ability of the CNN method using principal component analysis method (PCA) for dimensionality reduction of feature space and support vector machine (SVM) for classification. Through extensive experimental results, we confirm that our proposed method is adequate for presentation attack finger-vein image detection and it can deliver superior detection results compared to CNN-based methods and other previous handcrafted methods.

Spoof Detection for Finger-Vein Recognition System Using NIR Camera

PubMed Central

Nguyen, Dat Tien; Yoon, Hyo Sik; Pham, Tuyen Danh; Park, Kang Ryoung

2017-01-01

Finger-vein recognition, a new and advanced biometrics recognition method, is attracting the attention of researchers because of its advantages such as high recognition performance and lesser likelihood of theft and inaccuracies occurring on account of skin condition defects. However, as reported by previous researchers, it is possible to attack a finger-vein recognition system by using presentation attack (fake) finger-vein images. As a result, spoof detection, named as presentation attack detection (PAD), is necessary in such recognition systems. Previous attempts to establish PAD methods primarily focused on designing feature extractors by hand (handcrafted feature extractor) based on the observations of the researchers about the difference between real (live) and presentation attack finger-vein images. Therefore, the detection performance was limited. Recently, the deep learning framework has been successfully applied in computer vision and delivered superior results compared to traditional handcrafted methods on various computer vision applications such as image-based face recognition, gender recognition and image classification. In this paper, we propose a PAD method for near-infrared (NIR) camera-based finger-vein recognition system using convolutional neural network (CNN) to enhance the detection ability of previous handcrafted methods. Using the CNN method, we can derive a more suitable feature extractor for PAD than the other handcrafted methods using a training procedure. We further process the extracted image features to enhance the presentation attack finger-vein image detection ability of the CNN method using principal component analysis method (PCA) for dimensionality reduction of feature space and support vector machine (SVM) for classification. Through extensive experimental results, we confirm that our proposed method is adequate for presentation attack finger-vein image detection and it can deliver superior detection results compared to CNN-based methods and other previous handcrafted methods. PMID:28974031

Obturator mononeuropathy caused by lipomatosis of the nerve: a case report.

PubMed

Nardone, Raffaele; Venturi, Alessandro; Ladurner, Gunther; Golaszewski, Stefan; Psenner, Konrad; Tezzon, Frediano

2008-08-01

We report a patient who presented with the clinical features of obturator mononeuropathy. Abdomino-pelvic computed tomography revealed a fusiform mass in the right perivesical space; magnetic resonance imaging (MRI) showed characteristic "coaxial-cable-like" appearance in cross-section and "spaghetti-like" appearance in longitudinal section, pathognomonic of lipomatosis of the nerve. Nerve lipomatosis as the cause of obturator neuropathy has not been previously reported. MRI provides definite and graphic proof of the diagnosis.

New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies

PubMed Central

Stevens, Cathy A.; Lachman, Ralph S.

2011-01-01

We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion. PMID:20602491

Perforating neutrophilic and granulomatous dermatitis of the newborn--a clue to immunodeficiency.

PubMed

Torrelo, Antonio; Vera, Angel; Portugués, Mar; de Prada, Inmaculada; Sanz, Andrés; Colmenero, Isabel; Zulaica, Ander; de Lucas, Raúl; Fraga, Javier; Pedraz, Javier; Fontán, Sindo; Zambrano, Antonio

2007-01-01

We report two newborns with a widespread cutaneous eruption consisting of discrete papules which evolved into vesicles, pustules, crusts, and ulcers. These healed over a 2-week period with scarring. Histopathology showed three main features--histiocytic granulomas, neutrophilic infiltration, and transepidermal elimination of degenerated collagen and debris through hair follicles. Both patients had congenital immunodeficiency. This skin condition of the newborn, with distinct clinical and histopathologic features, is a manifestation of immunodeficiency that has not been previously described.

Classification of small lesions on dynamic breast MRI: Integrating dimension reduction and out-of-sample extension into CADx methodology

PubMed Central

Nagarajan, Mahesh B.; Huber, Markus B.; Schlossbauer, Thomas; Leinsinger, Gerda; Krol, Andrzej; Wismüller, Axel

2014-01-01

Objective While dimension reduction has been previously explored in computer aided diagnosis (CADx) as an alternative to feature selection, previous implementations of its integration into CADx do not ensure strict separation between training and test data required for the machine learning task. This compromises the integrity of the independent test set, which serves as the basis for evaluating classifier performance. Methods and Materials We propose, implement and evaluate an improved CADx methodology where strict separation is maintained. This is achieved by subjecting the training data alone to dimension reduction; the test data is subsequently processed with out-of-sample extension methods. Our approach is demonstrated in the research context of classifying small diagnostically challenging lesions annotated on dynamic breast magnetic resonance imaging (MRI) studies. The lesions were dynamically characterized through topological feature vectors derived from Minkowski functionals. These feature vectors were then subject to dimension reduction with different linear and non-linear algorithms applied in conjunction with out-of-sample extension techniques. This was followed by classification through supervised learning with support vector regression. Area under the receiver-operating characteristic curve (AUC) was evaluated as the metric of classifier performance. Results Of the feature vectors investigated, the best performance was observed with Minkowski functional ’perimeter’ while comparable performance was observed with ’area’. Of the dimension reduction algorithms tested with ’perimeter’, the best performance was observed with Sammon’s mapping (0.84 ± 0.10) while comparable performance was achieved with exploratory observation machine (0.82 ± 0.09) and principal component analysis (0.80 ± 0.10). Conclusions The results reported in this study with the proposed CADx methodology present a significant improvement over previous results reported with such small lesions on dynamic breast MRI. In particular, non-linear algorithms for dimension reduction exhibited better classification performance than linear approaches, when integrated into our CADx methodology. We also note that while dimension reduction techniques may not necessarily provide an improvement in classification performance over feature selection, they do allow for a higher degree of feature compaction. PMID:24355697

Exploiting Acoustic and Syntactic Features for Automatic Prosody Labeling in a Maximum Entropy Framework

PubMed Central

Sridhar, Vivek Kumar Rangarajan; Bangalore, Srinivas; Narayanan, Shrikanth S.

2009-01-01

In this paper, we describe a maximum entropy-based automatic prosody labeling framework that exploits both language and speech information. We apply the proposed framework to both prominence and phrase structure detection within the Tones and Break Indices (ToBI) annotation scheme. Our framework utilizes novel syntactic features in the form of supertags and a quantized acoustic–prosodic feature representation that is similar to linear parameterizations of the prosodic contour. The proposed model is trained discriminatively and is robust in the selection of appropriate features for the task of prosody detection. The proposed maximum entropy acoustic–syntactic model achieves pitch accent and boundary tone detection accuracies of 86.0% and 93.1% on the Boston University Radio News corpus, and, 79.8% and 90.3% on the Boston Directions corpus. The phrase structure detection through prosodic break index labeling provides accuracies of 84% and 87% on the two corpora, respectively. The reported results are significantly better than previously reported results and demonstrate the strength of maximum entropy model in jointly modeling simple lexical, syntactic, and acoustic features for automatic prosody labeling. PMID:19603083

Is meaning implicated in illusory conjunctions?

PubMed

Virzi, R A; Egeth, H E

1984-08-01

According to feature-integration theory, when attention is diverted from a display, features from different objects in that display may be wrongly recombined, giving rise to "illusory conjunctions" (Treisman & Schmidt, 1982). Two experiments are reported that examine the nature of these illusory conjunctions. In displays that contain color names and adjectives printed in colored ink, subjects made two kinds of interesting and previously unreported errors. Consider, for example, a display that included the word BROWN in red ink and the word HEAVY in green ink. Subjects would sometimes incorrectly report that the word RED or the ink color brown had appeared in the display (e.g., RED in green ink or HEAVY in brown ink). It appears that subjects extract semantic representations from input and are sometimes confused about whether a particular representation has been extracted from a word or a color patch. Contrary to feature-integration theory, these findings suggest that illusory conjunctions may occur with high-level codes as well as with perceptual features.

Breath Analysis Science at PittCon 2012, Orlando, Florida

EPA Science Inventory

Breath analysis science was featured in three organized sessions at this year’s Pittsburgh Conference and Exposition, or ‘PittCon 2012’ (http://www.pittcon.org/). As described in previous meeting reports, PittCon is one of the largest international conferences for analytical chem...

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

PubMed Central

Eason, J; Hall, C M; Trounce, J Q

1995-01-01

We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 months. Images PMID:7783178

Developmental Regression in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Rogers, Sally J.

2004-01-01

The occurrence of developmental regression in autism is one of the more puzzling features of this disorder. Although several studies have documented the validity of parental reports of regression using home videos, accumulating data suggest that most children who demonstrate regression also demonstrated previous, subtle, developmental differences.…

A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report

PubMed Central

Al Kaissi, Ali; Skoumal, Martin; Roetzer, Katharina; Grill, Franz; Klaushofer, Klaus

2008-01-01

Introduction A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered. Case presentation The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations in the 13 exons and flanking intronic regions of the LEMD3-gene have not been detected. His phenotypic features were consistent but not completely diagnostic for tricho-dento-osseous syndrome (TDO). We report what might be a novel syndromic association. Conclusion Melorheostosis has not previously been reported to be a part of TDO and an extensive review of the literature suggests that the constellation of hair, tooth and bone abnormalities found in our patient either represents an unusual variant of tricho-dento-osseous syndrome or a new syndrome. PMID:18284671

Impact-shocked zircons: discovery of shock-induced textures reflecting increasing degrees of shock metamorphism

USGS Publications Warehouse

Bohor, B.F.; Betterton, W.J.; Krogh, T.E.

1993-01-01

Textural effects specifically characteristic of shock metamorphism in zircons from impact environments have not been reported previously. However, planar deformation features (PDF) due to shock metamorphism are well documented in quartz and other mineral grains from these same environments. An etching technique was developed that allows SEM visualization of PDF and other probable shock-induced textural features, such as granular (polycrystalline) texture, in zircons from a variety of impact shock environments. These textural features in shocked zircons from K/T boundary distal ejecta form a series related to increasing degrees of shock that should correlate with proportionate resetting of the UPb isotopic system. ?? 1993.

Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome.

PubMed

Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

2017-01-01

Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

PubMed

Toriello, Helga V; Lemire, Edmond G

2002-01-01

We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.

Persistent Pemphigus Vulgaris Showing Features of Tufted Hair Folliculitis

PubMed Central

Ko, Dong Kyun; Chae, In Soo; Chung, Ki Hun; Chung, Hyun

2011-01-01

Pemphigus vulgaris is an autoimmune blistering disease that commonly involves the scalp. Lesions of pemphigus vulgaris that persist on the scalp for a long period may be accompanied by tufted hair folliculitis. Only two previous accounts of tufted hair folliculitis developing in a lesion of pemphigus vulgaris have been reported. We report a 51-year-old-man with erosions and clusters of hair on the scalp. The scalp lesion had persisted for about 20 years. A histopathological examination of the skin lesion on the scalp revealed separation of the epidermis and clusters of several adjacent hair follicles. The patient was diagnosed with persistent pemphigus vulgaris of the scalp showing features of tufted hair folliculitis. PMID:22148026

Experience improves feature extraction in Drosophila.

PubMed

Peng, Yueqing; Xi, Wang; Zhang, Wei; Zhang, Ke; Guo, Aike

2007-05-09

Previous exposure to a pattern in the visual scene can enhance subsequent recognition of that pattern in many species from honeybees to humans. However, whether previous experience with a visual feature of an object, such as color or shape, can also facilitate later recognition of that particular feature from multiple visual features is largely unknown. Visual feature extraction is the ability to select the key component from multiple visual features. Using a visual flight simulator, we designed a novel protocol for visual feature extraction to investigate the effects of previous experience on visual reinforcement learning in Drosophila. We found that, after conditioning with a visual feature of objects among combinatorial shape-color features, wild-type flies exhibited poor ability to extract the correct visual feature. However, the ability for visual feature extraction was greatly enhanced in flies trained previously with that visual feature alone. Moreover, we demonstrated that flies might possess the ability to extract the abstract category of "shape" but not a particular shape. Finally, this experience-dependent feature extraction is absent in flies with defective MBs, one of the central brain structures in Drosophila. Our results indicate that previous experience can enhance visual feature extraction in Drosophila and that MBs are required for this experience-dependent visual cognition.

Sad Facial Expressions Increase Choice Blindness

PubMed Central

Wang, Yajie; Zhao, Song; Zhang, Zhijie; Feng, Wenfeng

2018-01-01

Previous studies have discovered a fascinating phenomenon known as choice blindness—individuals fail to detect mismatches between the face they choose and the face replaced by the experimenter. Although previous studies have reported a couple of factors that can modulate the magnitude of choice blindness, the potential effect of facial expression on choice blindness has not yet been explored. Using faces with sad and neutral expressions (Experiment 1) and faces with happy and neutral expressions (Experiment 2) in the classic choice blindness paradigm, the present study investigated the effects of facial expressions on choice blindness. The results showed that the detection rate was significantly lower on sad faces than neutral faces, whereas no significant difference was observed between happy faces and neutral faces. The exploratory analysis of verbal reports found that participants who reported less facial features for sad (as compared to neutral) expressions also tended to show a lower detection rate of sad (as compared to neutral) faces. These findings indicated that sad facial expressions increased choice blindness, which might have resulted from inhibition of further processing of the detailed facial features by the less attractive sad expressions (as compared to neutral expressions). PMID:29358926

Sad Facial Expressions Increase Choice Blindness.

PubMed

Wang, Yajie; Zhao, Song; Zhang, Zhijie; Feng, Wenfeng

2017-01-01

Previous studies have discovered a fascinating phenomenon known as choice blindness-individuals fail to detect mismatches between the face they choose and the face replaced by the experimenter. Although previous studies have reported a couple of factors that can modulate the magnitude of choice blindness, the potential effect of facial expression on choice blindness has not yet been explored. Using faces with sad and neutral expressions (Experiment 1) and faces with happy and neutral expressions (Experiment 2) in the classic choice blindness paradigm, the present study investigated the effects of facial expressions on choice blindness. The results showed that the detection rate was significantly lower on sad faces than neutral faces, whereas no significant difference was observed between happy faces and neutral faces. The exploratory analysis of verbal reports found that participants who reported less facial features for sad (as compared to neutral) expressions also tended to show a lower detection rate of sad (as compared to neutral) faces. These findings indicated that sad facial expressions increased choice blindness, which might have resulted from inhibition of further processing of the detailed facial features by the less attractive sad expressions (as compared to neutral expressions).

Freezing of Gait Detection in Parkinson's Disease: A Subject-Independent Detector Using Anomaly Scores.

PubMed

Pham, Thuy T; Moore, Steven T; Lewis, Simon John Geoffrey; Nguyen, Diep N; Dutkiewicz, Eryk; Fuglevand, Andrew J; McEwan, Alistair L; Leong, Philip H W

2017-11-01

Freezing of gait (FoG) is common in Parkinsonian gait and strongly relates to falls. Current clinical FoG assessments are patients' self-report diaries and experts' manual video analysis. Both are subjective and yield moderate reliability. Existing detection algorithms have been predominantly designed in subject-dependent settings. In this paper, we aim to develop an automated FoG detector for subject independent. After extracting highly relevant features, we apply anomaly detection techniques to detect FoG events. Specifically, feature selection is performed using correlation and clusterability metrics. From a list of 244 feature candidates, 36 candidates were selected using saliency and robustness criteria. We develop an anomaly score detector with adaptive thresholding to identify FoG events. Then, using accuracy metrics, we reduce the feature list to seven candidates. Our novel multichannel freezing index was the most selective across all window sizes, achieving sensitivity (specificity) of (). On the other hand, freezing index from the vertical axis was the best choice for a single input, achieving sensitivity (specificity) of () for ankle and () for back sensors. Our subject-independent method is not only significantly more accurate than those previously reported, but also uses a much smaller window (e.g., versus ) and/or lower tolerance (e.g., versus ).Freezing of gait (FoG) is common in Parkinsonian gait and strongly relates to falls. Current clinical FoG assessments are patients' self-report diaries and experts' manual video analysis. Both are subjective and yield moderate reliability. Existing detection algorithms have been predominantly designed in subject-dependent settings. In this paper, we aim to develop an automated FoG detector for subject independent. After extracting highly relevant features, we apply anomaly detection techniques to detect FoG events. Specifically, feature selection is performed using correlation and clusterability metrics. From a list of 244 feature candidates, 36 candidates were selected using saliency and robustness criteria. We develop an anomaly score detector with adaptive thresholding to identify FoG events. Then, using accuracy metrics, we reduce the feature list to seven candidates. Our novel multichannel freezing index was the most selective across all window sizes, achieving sensitivity (specificity) of (). On the other hand, freezing index from the vertical axis was the best choice for a single input, achieving sensitivity (specificity) of () for ankle and () for back sensors. Our subject-independent method is not only significantly more accurate than those previously reported, but also uses a much smaller window (e.g., versus ) and/or lower tolerance (e.g., versus ).

Matched-filtering line search methods applied to Suzaku data

NASA Astrophysics Data System (ADS)

Miyazaki, Naoto; Yamada, Shin'ya; Enoto, Teruaki; Axelsson, Magnus; Ohashi, Takaya

2016-12-01

A detailed search for emission and absorption lines and an assessment of their upper limits are performed for Suzaku data. The method utilizes a matched-filtering approach to maximize the signal-to-noise ratio for a given energy resolution, which could be applicable to many types of line search. We first applied it to well-known active galactic nuclei spectra that have been reported to have ultra-fast outflows, and find that our results are consistent with previous findings at the ˜3σ level. We proceeded to search for emission and absorption features in two bright magnetars 4U 0142+61 and 1RXS J1708-4009, applying the filtering method to Suzaku data. We found that neither source showed any significant indication of line features, even using long-term Suzaku observations or dividing their spectra into spin phases. The upper limits on the equivalent width of emission/absorption lines are constrained to be a few eV at ˜1 keV and a few hundreds of eV at ˜10 keV. This strengthens previous reports that persistently bright magnetars do not show proton cyclotron absorption features in soft X-rays and, even if they exist, they would be broadened or much weaker than below the detection limit of X-ray CCD.

Impairment of Unconscious, but Not Conscious, Gaze-Triggered Attention Orienting in Asperger's Disorder

ERIC Educational Resources Information Center

Sato, Wataru; Uono, Shota; Okada, Takashi; Toichi, Motomi

2010-01-01

Impairment of joint attention represents the core clinical features of pervasive developmental disorders (PDDs), including autism and Asperger's disorder. However, experimental studies reported intact gaze-triggered attentional orienting in PDD. Since all previous studies employed supraliminal presentation of gaze stimuli, we hypothesized that…

Sotos syndrome, failure to thrive and parotitis

PubMed Central

Thomas, Megan R

2011-01-01

Sotos syndrome is characterised by excessive pre and postnatal growth, a variable degree of learning difficulties and a recognisable facial appearance. This report highlights the difficulty in making the diagnosis where failure to thrive is the presenting feature and documents a previously undescribed association with recurrent parotitis. PMID:22715272

Screaming, Yelling, Whining and Crying: Categorical and intensity differences in Vocal Expressions of Anger and Sadness in Children's Tantrums

PubMed Central

Green, James A.; Whitney, Pamela G.; Potegal, Michael

2011-01-01

Young children's temper tantrums offer a unique window into the expression and regulation of strong emotions. Previous work, largely based on parental report, suggests that two emotions, anger and sadness, have different behavioral manifestations and different time courses within tantrums. Individual motor and vocal behaviors, reported by parents, have been interpreted as representing different levels of intensity within each emotion category. The present study used high fidelity audio recordings to capture the acoustic features of children's vocalizations during tantrums. Results indicated that perceptually categorized screaming, yelling, crying, whining, and fussing each have distinct acoustic features. Screaming and yelling form a group with similar acoustic features while crying, whining, and fussing form a second acoustically related group. Within these groups, screaming may reflect a higher intensity of anger than yelling while fussing, whining and crying may reflect an increasing intensity of sadness. PMID:21707157

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

Descartes, M.; Longshore, J.W.; Crawford, E.

We report an infant with double trisomy 48,XXX,+18, who also displayed features of Roberts syndrome. All previously published cases with similar double trisomy have presented with features of trisomy 18 syndrome. The chromosome analysis done at birth revealed the double trisomy; parental chromosomes were normal. The proband presented with microbrachycephaly, unilateral cleft lip and palate, choanal atresia, midfacial capillary hemanioma, thin nares, shallow orbits, malformed ears, sparse hair, hypomelia of the upper limbs, rocker-bottom feet, auricular septal defect and agenesis of the corpus callosum. Characteristic features of Roberts syndrome included hypomelia, midfacial defects, and severe growth deficiency. Among the manymore » different features reported in the literature for patients with trisomy 18 syndrome, the most consistent were growth deficiency, clenched fingers and congenital heart defects (e.g. VSD, ASD, PDA). Although some of our patient`s features such as cleft lip and cleft palate, low-set malformed ears, ASD, defects of the corpus callosum, choanal atresia, radial aplasia could also be seen in trisomy 18 syndrome (in 10-50% of the cases), her phenotype was more typical of Roberts syndrome because of symmetrical hypomelia and midfacial defects. Our patient`s chromosomes did not show premature separation of centromeric heterochromatin, a feature reported to occur in approximately one-half of individuals with Roberts syndrome. Sporadic aneuploidy involving different chromosomes has been found in lymphocyte cultures from some Roberts syndrome patients and is considered by some authors as a mitotic mutant. This aneuploidy is most likely to be chromosome gain. The simultaneous occurrence of trisomy X and 18 is extremely rare with only 11 cases having been reported in the literature. Our patient is unique since she has the double trisomy in addition to the characteristic features of Roberts syndrome.« less

A hybrid CNN feature model for pulmonary nodule malignancy risk differentiation.

PubMed

Wang, Huafeng; Zhao, Tingting; Li, Lihong Connie; Pan, Haixia; Liu, Wanquan; Gao, Haoqi; Han, Fangfang; Wang, Yuehai; Qi, Yifan; Liang, Zhengrong

2018-01-01

The malignancy risk differentiation of pulmonary nodule is one of the most challenge tasks of computer-aided diagnosis (CADx). Most recently reported CADx methods or schemes based on texture and shape estimation have shown relatively satisfactory on differentiating the risk level of malignancy among the nodules detected in lung cancer screening. However, the existing CADx schemes tend to detect and analyze characteristics of pulmonary nodules from a statistical perspective according to local features only. Enlightened by the currently prevailing learning ability of convolutional neural network (CNN), which simulates human neural network for target recognition and our previously research on texture features, we present a hybrid model that takes into consideration of both global and local features for pulmonary nodule differentiation using the largest public database founded by the Lung Image Database Consortium and Image Database Resource Initiative (LIDC-IDRI). By comparing three types of CNN models in which two of them were newly proposed by us, we observed that the multi-channel CNN model yielded the best discrimination in capacity of differentiating malignancy risk of the nodules based on the projection of distributions of extracted features. Moreover, CADx scheme using the new multi-channel CNN model outperformed our previously developed CADx scheme using the 3D texture feature analysis method, which increased the computed area under a receiver operating characteristic curve (AUC) from 0.9441 to 0.9702.

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

PubMed

Elahi, Elahe; Shafaghati, Yousef; Asadi, Sareh; Absalan, Farnaz; Goodarzi, Hani; Gharaii, Nava; Karimi-Nejad, Mohammad Hassan; Shahram, Farhad; Hughes, Anne E

2007-01-01

Familial expansile osteolysis (FEO) is a rare disorder causing bone dysplasia. The clinical features of FEO include early-onset hearing loss, tooth destruction, and progressive lytic expansion within limb bones causing pain, fracture, and deformity. An 18-bp duplication in the first exon of the TNFRSF11A gene encoding RANK has been previously identified in four FEO pedigrees. Despite having the identical mutation, phenotypic variations among affected individuals of the same and different pedigrees were noted. Another 18-bp duplication, one base proximal to the duplication previously reported, was subsequently found in two unrelated FEO patients. Finally, mutations overlapping with the mutations found in the FEO pedigrees have been found in ESH and early-onset PDB pedigrees. An Iranian FEO pedigree that contains six affected individuals dispersed in three generations has previously been introduced; here, the clinical features of the proband are reported in greater detail, and the genetic defect of the pedigree is presented. Direct sequencing of the entire coding region and upstream and downstream noncoding regions of TNFRSF11A in her DNA revealed the same 18-bp duplication mutation as previously found in the four FEO pedigrees. Additionally, eight sequence variations as compared to the TNFRSF11A reference sequence were identified, and a haplotype linked to the mutation based on these variations was defined. Although the mutation in the Iranian and four of the previously described FEO pedigrees was the same, haplotypes based on the intragenic SNPs suggest that the mutations do not share a common descent.

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

PubMed

Wilkin, Justin; Kerr, Natalie C; Byrd, Kathryn W; Ward, Jewell C; Iannaccone, Alessandro

2016-06-01

To report longitudinal phenotypic findings in a patient with Sanfilippo syndrome type IIIA, harboring SGSH mutations, one of which is novel. Heparan-N-sulfatidase enzyme function testing in skin fibroblasts and white blood cells and SGSH gene sequencing were obtained. Clinical office examinations, examinations under anesthesia, electroretinogram, spectral domain optical coherence tomography (SD-OCT), and fundus photography were performed over a 5-year period. Fundus examination revealed a progressive breadcrumb-like pigmentary retinopathy with perifoveal pigmentary involvement. SD-OCT showed loss of normal neuroretinal lamination and cystic macular changes responsive to treatment with carbonic anhydrase inhibitors. Electroretinography exhibited complex characteristics indicative of a generalized retinal rod > cone dysfunction with significant ON > OFF postreceptoral response compromise. Sequencing revealed compound heterozygous mutations in the SGSH gene, the novel c.88G > C (p.A30P) change and a second, previously reported one (c.734G > A, p.R245H). We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction. SD-OCT imaging revealed retinal lamination changes consistent with previously reported histologic studies. Both the SD-OCT and the electroretinogram changes appear attributable to intraretinal deposition of heparan sulfate.

Strampelli's osteo-odonto-keratoprosthesis. Clinical and histological long-term features of three prostheses.

PubMed Central

Ricci, R.; Pecorella, I.; Ciardi, A.; Della Rocca, C.; Di Tondo, U.; Marchi, V.

1992-01-01

The histological features are reported of osteo-odonto-acrylic laminae removed from three patients who for differing underlying causes received Strampelli's osteo-odonto-keratoprostheses (OOK) 20, 16, and 12 years previously. It appears that preservation of the alveolar-dental ligament plays a definitive role in the maintenance of the prosthesis. If this tissue undergoes necrosis as a consequence of an inflammatory disease the implanted material is eventually lost. However when no such event occurs the OOK is well preserved and well tolerated even 20 years after implantation. Images PMID:1390492

Distinguishing features of Excited Delirium Syndrome in non-fatal use of force encounters.

PubMed

Baldwin, Simon; Hall, Christine; Bennell, Craig; Blaskovits, Brittany; Lawrence, Chris

2016-07-01

The frequency with which the police encounter non-fatal cases of Excited Delirium Syndrome (ExDS) has not been well studied. To date only a single prospective, epidemiologic study has been completed to determine the prevalence of the features of ExDS in police use of force (UoF) encounters. We examined a cluster of previously published features associated with ExDS to establish if these features were consistently recognizable across policing populations, thus demonstrating reproducibility. We further sought to determine whether any feature or number of concomitant features were likely to have physiologic significance. These are important first steps in determining a case definition of ExDS in a law enforcement and medical setting. A prospective evaluation of a consecutive cohort of subjects involved in UoF encounters with police was conducted. Data were collected through the UoF reporting database of a large Canadian law enforcement agency from January, 2012 to December, 2013. The ten core characteristics of ExDS that have been observed in past research were documented by officers and, consistent with previous research, the presence of six or more features was used to identify probable cases of ExDS and a state of medical emergency. UoF occurred in 4799 of 5.4 million police-public interactions (0.09%). Of the UoF encounters, 73 (1.5%) subjects displayed six or more features of ExDS. Upwards of 9.2% of these subjects could be expected to be at risk of sudden and unexpected arrest-related death (ARD). Features with the highest odds of being presented with a large number of concomitant features included "Does not Fatigue", "Superhuman Strength" and "Tactile Hyperthermia" (287, 137 and 93 times higher, respectively). Moreover, "Tactile Hyperthermia" demonstrated the highest odds of being presented in individuals with a large number of features as opposed to those with fewer (33 times higher). We demonstrate that there is the ability for law enforcement officers to consistently recognize and report features of ExDS that have been associated with ARD. The varying presence of features across the examined categories indicates that some features are more distinguishing than others, which may enable narrowing the scope of features that represent ExDS and understanding its pathophysiology. The current debate surrounding whether or not ExDS exists limits first responders and emergency physicians in their ability to increase awareness, improve training and interventions, and design appropriate policy and response protocols to reduce ARDs. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

PubMed Central

Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

2017-01-01

Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

Telangiectatic adenoma - computed tomography and magnetic resonance findings: a case report and review of the literature.

PubMed

Takayassu, Tatiana Chinem; Marchiori, Edson; Eiras, Antonio; Cabral, Rafael Ferracini; Cabral, Fernanda Caseira; Batista, Raquel Ribeiro; Zanetti, Gláucia; Dias, Paula Cristina Pereira

2009-01-07

Telangiectatic adenoma is a new classification of a hepatic lesion. It was previously named telangiectatic focal nodular hyperplasia but it is in fact true adenoma with telangiectatic features. We report here a case of telangiectatic adenoma in a 72-year-old woman. The image features are lack of a central scar, a heterogeneous lesion, hyperintensity in T1-weighted MR images, strong hyperintensity in T2-weighted MR images, and persistent contrast enhancement in delayed-phase contrast-enhanced CT or T1-weighted MR images. It is a monoclonal lesion with potential of malignancy. The treatment of telangiectatic adenoma is surgery, the same way as hepatic adenoma. Focal nodular hyperplasia may be managed by clinical follow-up alone.

Account Deletion Prediction on RuNet: A Case Study of Suspicious Twitter Accounts Active During the Russian-Ukrainian Crisis

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

Volkova, Svitlana; Bell, Eric B.

Social networks are dynamically changing over time e.g., some accounts are being created and some are being deleted or become private. This ephemerality at both an account level and content level results from a combination of privacy concerns, spam, and deceptive behaviors. In this study we analyze a large dataset of 180,340 accounts active during the Russian-Ukrainian crisis to discover a series of predictive features for the removal or shutdown of a suspicious account. We find that unlike previously reported profile and net- work features, lexical features form the basis for highly accurate prediction of the deletion of an account.

Impact-shocked zircons: Discovery of shock-induced textures reflecting increasing degrees of shock metamorphism

NASA Technical Reports Server (NTRS)

Bohor, B. F.; Betterton, W. J.; Krogh, T. E.

1993-01-01

Textural effects specifically characteristic of shock metamorphism in zircons from impact environments have not been reported previously. However, planar deformation features (PDF) due to shock metamorphism are well documented in quartz and other mineral grains from these same environments. An etching technique was developed that allows scanning electron microscope (SEM) visualization of PDF and other probable shock-induced textural features, such as granular (polycrystalline) texture, in zircons from a variety of impact shock environments. These textural features in shocked zircons from K/T boundary distal ejecta form a series related to increasing degrees of shock that should correlate with proportionate resetting of the U-Pb isotopic system.

Cities in Crisis: A Special Analytic Report on High School Graduation

ERIC Educational Resources Information Center

Swanson, Christopher B.

2008-01-01

Graduation rates have become a prominent feature in the landscape of high school reform and within the larger world of educational policy. Studies conducted over the past several years have repeatedly demonstrated that far fewer American students are completing high school with diplomas than had previously been realized. Whereas the conventional…

Osteoglophonic dwarfism in two generations.

PubMed Central

Kelley, R I; Borns, P F; Nichols, D; Zackai, E H

1983-01-01

A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested. Images PMID:6606709

Peering Into the Shadows of Chemical Space. Emerging Contaminants and Environmental Science: Is Either Being Served by the Other?

EPA Science Inventory

A decade has passed since the term “emerging” was first formally used to describe the existence of waterpollutants not previously recognized; a 1998 NRC workshop ("Identifying Future Drinking WaterContaminants") and several 1999 reports by USGS were among the first to feature the...

State Laws and Guidelines for RTI: Additional Implementation Features

ERIC Educational Resources Information Center

Zirkel, Perry A.

2011-01-01

Response to intervention (RTI) remains a major issue in both the professional literature and school practice. A series of previous "snapshot" studies traced the development of RTI in state laws concerning identification of students with specific learning disability (SLD). In the last article in this series, Zirkel and Thomas (2010) reported that…

No Evidence for Impaired Perception of Biological Motion in Adults with Autistic Spectrum Disorders

ERIC Educational Resources Information Center

Murphy, Patrick; Brady, Nuala; Fitzgerald, Michael; Troje, Nikolaus F.

2009-01-01

A central feature of autistic spectrum disorders (ASDs) is a difficulty in identifying and reading human expressions, including those present in the moving human form. One previous study, by Blake et al. (2003), reports decreased sensitivity for perceiving biological motion in children with autism, suggesting that perceptual anomalies underlie…

Reduced Reliance on Optimal Facial Information for Identity Recognition in Autism Spectrum Disorder

ERIC Educational Resources Information Center

Leonard, Hayley C.; Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.

2013-01-01

Previous research into face processing in autism spectrum disorder (ASD) has revealed atypical biases toward particular facial information during identity recognition. Specifically, a focus on features (or high spatial frequencies [HSFs]) has been reported for both face and nonface processing in ASD. The current study investigated the development…

Visual acuity of the honey bee retina and the limits for feature detection.

PubMed

Rigosi, Elisa; Wiederman, Steven D; O'Carroll, David C

2017-04-06

Visual abilities of the honey bee have been studied for more than 100 years, recently revealing unexpectedly sophisticated cognitive skills rivalling those of vertebrates. However, the physiological limits of the honey bee eye have been largely unaddressed and only studied in an unnatural, dark state. Using a bright display and intracellular recordings, we here systematically investigated the angular sensitivity across the light adapted eye of honey bee foragers. Angular sensitivity is a measure of photoreceptor receptive field size and thus small values indicate higher visual acuity. Our recordings reveal a fronto-ventral acute zone in which angular sensitivity falls below 1.9°, some 30% smaller than previously reported. By measuring receptor noise and responses to moving dark objects, we also obtained direct measures of the smallest features detectable by the retina. In the frontal eye, single photoreceptors respond to objects as small as 0.6° × 0.6°, with >99% reliability. This indicates that honey bee foragers possess significantly better resolution than previously reported or estimated behaviourally, and commonly assumed in modelling of bee acuity.

Vibrational Mode-Specific Autodetachment and Coupling of CH2CN-

NASA Astrophysics Data System (ADS)

Lyle, Justin; Mabbs, Richard

2017-06-01

The Cyanomethyl Anion, CH_{2}CN-, and neutral radical have been studied extensively, with several findings of autodetachment about the totally symmetric transition, as well as high resolution experiments revealing symmetrically forbidden and weak vibrational features. We report photoelectron spectra using the Velocity-Mapped Imaging Technique in 1-2 \\wn increments over a range of 13460 to 15384 \\wn that has not been previously examined. These spectra include excitation of the ground state cyanomethyl anion into the direct detachment thresholds of previously reported vibrational modes for the neutral radical. Significant variations from Franck-Condon behavior were observed in the branching ratios for resolved vibrational features for excitation in the vicinity of the thresholds involving the νb{3} and νb{5} modes. These are consistent with autodetachment from rovibrational levels of a dipole bound state acting as a resonance in the detachment continuum. The autodetachment channels involve single changes in vibrational quantum number, consistent with the vibrational propensity rule but in some cases reveal relaxation to a different vibrational mode indicating coupling between the modes and/or a breakdown of the normal mode approximation.

Development of a methodology for structured reporting of information in echocardiography.

PubMed

Homorodean, Călin; Olinic, Maria; Olinic, Dan

2012-03-01

In order to conduct research relying on ultrasound images, it is necessary to access a large number of relevant cases represented by images and their interpretation. DICOM standard defines the structured reporting information object. Templates are tree-like structures which offer structural guidance in report construction. Laying the foundations of a structured reporting methodology in echocardiography, through the generation of a consistent set of DICOM templates. We developed an information system with the ability of managing echocardiographic images and structured reports. In order to perform a complete description of the cardiac structures, we used 1900 coded concepts organized into 344 contexts by their semantic meaning in a variety of cardiac diseases. We developed 30 templates, with up to 10 nesting levels. The list of templates has a pyramid-like architecture. Two templates are used for reporting every measurement and description: "EchoMeasurement" and "EchoDescription". Intermediate level templates specify how to report the features of echoDoppler findings: "Spectral Curve", "Color Jet", "Intracardiac mass". Templates for every cardiovascular structure include the previous ones. "Echocardiography Procedure Report" includes all other templates. The templates were tested in reporting echo features of 100 patients by analyzing 500 DICOM images. The benefits of these templates has been proven during the testing process, through the quality of the echocardiography report, the ability to argue and to link every diagnostic feature to a defining image and by opening up opportunities for education, research. In the future, our template-based reporting methodology might be extended to other imaging modalities.

Fungal Keratitis Due to Beauveria bassiana in a Contact Lenses Wearer and Review of Published Reports.

PubMed

Lara Oya, Ana; Medialdea Hurtado, María Eloisa; Rojo Martín, María Dolores; Aguilera Pérez, Antonia; Alastruey-Izquierdo, Ana; Miranda Casas, Consuelo; Rubio Prats, Marina; Medialdea Marcos, Santiago; Navarro Marí, José María

2016-10-01

Fungal keratitis is a severe ocular infection that primarily affects subjects engaged in outdoor activities. Risk factors include allergic conjunctivitis, previous eye surgery, previous treatment with wide-spectrum antimicrobial agents and corticosteroids and using contact lenses. Corneal infection is usually secondary to trauma involving organic material, which is often the only predisposing factor. Early diagnosis based on clinical examination and microbiological investigation (microscopy, cultures and molecular techniques) is crucial to selecting the appropriate antifungal therapy and prevent progression. We report the case of a patient with keratitis due to Beauveria bassiana, an opportunistic and entomopathogenic filamentous fungus that is used as a biological insecticide and which is a rare cause of corneal infection. We review previous cases reports of B. bassiana keratitis published and its main features to compare with our case, a female occasional agriculture worker who had not suffered any trauma involving organic material. The patient received topical and oral antifungal therapy and debridement surgery, with a satisfactory outcome.

19q13.32 microdeletion syndrome: three new cases.

PubMed

Castillo, Angela; Kramer, Nancy; Schwartz, Charles E; Miles, Judith H; DuPont, Barbara R; Rosenfeld, Jill A; Graham, John M

2014-01-01

A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20-23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Adrenal cortical oncocytoma mimicking pheochromocytoma.

PubMed

Kiriakopoulos, Andreas; Papaioannou, Dimitrios; Linos, Dimitrios

2011-01-01

Adrenal tumors present with clinical features and signs unique to their specific hormonal hypersecretion. However, there have been cases in which the clinical expression has been in conflict with the histologic features of the tumor. In this communication we report an unusual clinical presentation of an adrenal cortical tumor with histologic features of an oncocytoma that clinically mimicked a pheochromocytoma. A 49-year old man was referred to our Unit due to type B aortic dissection and a mass of the left adrenal gland. Computed tomography and magnetic resonance imaging confirmed the presence of aortic dissection extending from the left subclavian artery to both iliac arteries and also revealed a 6 cm tumor on the left adrenal gland. Preoperative endocrine evaluation showed a near tenfold increase of urinary vanillylmandelic acid (VMA) and metanephrine values. Transperitoneal laparoscopic adrenalectomy was successfully performed. The adrenal tumor proved to be an adrenal cortical neoplasm with histologic features of oncocytoma. Although the case of an adrenal cortical adenoma clinically mimicking a pheochromocytoma has been described in the literature, to the best of our knowledge, there has been no previous report of an adrenal cortical neoplasm with predominant features of oncocytoma.

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

PubMed

Bixler, D; Higgins, M; Hartsfield, J

1984-07-01

This report describes two families with the Nance-Horan syndrome, an X-linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.

Verrucous carcinoma of the middle ear.

PubMed

Woodson, G E; Jurco, S; Alford, B R; McGavran, M H

1981-01-01

A case of a highly destructive, cytologically nondysplastic squamous epithelial lesion of the middle ear is presented. The cranial nerve involvement and bone destruction are more extensive than has been seen in cholesteatoma. Cultures are negative for Pseudomonas, and the patient does not have the reported diathesis for malignant otitis externa. The gross and microscopic features are those of verrucous carcinoma. To our knowledge, the middle ear has not been previously reported as a site of involvement by verrucous carcinoma.

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

PubMed

Ahmad, Z; Phadke, S R; Arch, E; Glass, J; Agarwal, A K; Garg, A

2012-02-01

Restrictive dermopathy (RD) results in stillbirth or early neonatal death. RD is characterized by prematurity, intrauterine growth retardation, fixed facial expression, micrognathia, mouth in the 'o' position, rigid and tense skin with erosions and denudations and multiple joint contractures. Nearly all 25 previously reported neonates with RD had homozygous or compound heterozygous null mutations in the ZMPSTE24 gene. Here, we report three new cases of RD; all died within 3 weeks of birth. One of them had a previously reported homozygous c.1085dupT (p.Leu362PhefsX19) mutation, the second case had a novel homozygous c.1020G>A (p.Trp340X) null mutation in ZMPSTE24, but the third case, a stillborn with features of RD except for the presence of tapering rather than rounded, bulbous digits, harbored no disease-causing mutations in LMNA or ZMPSTE24. In the newborn with a novel ZMPSTE24 mutation, unique features included butterfly-shaped thoracic 5 vertebra and the bulbous appearance of the distal clavicles. Skin biopsies from both the stillborn fetus and the newborn with c.1020G>A ZMPSTE24 mutation showed absence of elastic fibers throughout the dermis. This report provides evidence of genetic heterogeneity among RD and concludes that there may be an additional locus for RD which remains to be identified. © 2010 John Wiley & Sons A/S.

Pseudotumoral encapsulated fat necrosis with diffuse pseudomembranous degeneration.

PubMed

Felipo, F; Vaquero, M; del Agua, C

2004-09-01

An extraordinary case of encapsulated fat necrosis characterized by its large size, diffuse formation of pseudomembranes, and tendency to recur after excision is reported. A 67-year-old Caucasian woman suffering from morbid obesity was admitted for diagnosis and surgical treatment of a soft tissue mass showing a longest diameter of 14 cm and lying adjacently to the scar from previous appendicectomy. Histopathologic features were consistent with a nodular-cystic encapsulated fat necrosis with diffuse pseudomembranous transformation. Eight months after surgery, a new larger mass (longest diameter of 18 cm) sharing identical histopathologic features appeared in the same location. Encapsulated fat necrosis is a well-defined entity even though several names have been proposed for this condition, including mobile encapsulated lipoma, encapsulated necrosis, or nodular-cystic fat necrosis. Its pathogenesis seems to be related to ischemic changes secondary to previous trauma. It may occasionally show degenerative changes, including dystrophic calcifications and presence of pseudomembranes. To our knowledge, these are the first reported cases of encapsulated fat necrosis presenting as lesions of such size and showing diffuse formation of pseudomembranes; these particular features made diagnosis difficult and led to consideration of a wide range of potential diagnostic possibilities. This case expands the clinico-pathologic spectrum of membranocystic fat necrosis, including the potential ability of this subcutaneous fatty tissue abnormality to recur after surgical excision. Felipo F, Vaquero M, del Agua C. Pseudotumoral encapsulated fat necrosis with diffuse pseudomembranous degeneration.

Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease

PubMed Central

Paulsson, Kajsa; Cazier, Jean-Baptiste; MacDougall, Finlay; Stevens, Jane; Stasevich, Irina; Vrcelj, Nikoletta; Chaplin, Tracy; Lillington, Debra M.; Lister, T. Andrew; Young, Bryan D.

2008-01-01

We present here a genome-wide map of abnormalities found in diagnostic samples from 45 adults and adolescents with acute lymphoblastic leukemia (ALL). A 500K SNP array analysis uncovered frequent genetic abnormalities, with cryptic deletions constituting half of the detected changes, implying that microdeletions are a characteristic feature of this malignancy. Importantly, the pattern of deletions resembled that recently reported in pediatric ALL, suggesting that adult, adolescent, and childhood cases may be more similar on the genetic level than previously thought. Thus, 70% of the cases displayed deletion of one or more of the CDKN2A, PAX5, IKZF1, ETV6, RB1, and EBF1 genes. Furthermore, several genes not previously implicated in the pathogenesis of ALL were identified as possible recurrent targets of deletion. In total, the SNP array analysis identified 367 genetic abnormalities not corresponding to known copy number polymorphisms, with all but two cases (96%) displaying at least one cryptic change. The resolution level of this SNP array study is the highest used to date to investigate a malignant hematologic disorder. Our findings provide insights into the leukemogenic process and may be clinically important in adult and adolescent ALL. Most importantly, we report that microdeletions of key genes appear to be a common, characteristic feature of ALL that is shared among different clinical, morphological, and cytogenetic subgroups. PMID:18458336

Interface dermatitis in skin lesions of Kikuchi-Fujimoto's disease: a histopathological marker of evolution into systemic lupus erythematosus?

PubMed

Paradela, S; Lorenzo, J; Martínez-Gómez, W; Yebra-Pimentel, T; Valbuena, L; Fonseca, E

2008-12-01

Kikuchi's disease (KD) is a self-limiting histiocytic necrotizing lymphadenitis (HNL). Cutaneous manifestations are frequent and usually show histopathological findings similar to those observed in the involved lymph nodes. HNL with superposed histological features to KD has been described in patients with lupus erythematosus (LE), and a group of healthy patients previously reported as having HNL may evolve into LE after several months. Up to date, features to predict which HNL patients will have a self-limiting disease and which could develop LE have been not identified. In order to clarify the characteristics of skin lesions associated with KD, we report a case of HNL with evolution into systemic lupus erythematosus (SLE) and a review of previous reports of KD with cutaneous manifestations. A 17-year-old woman presented with a 4-month history of fever and generalised lymphadenopathy. A diagnosis of HNL was established based on a lymph node biopsy. One month later, she developed an erythematoedematous rash on her upper body, with histopathological findings of interface dermatitis. After 8 months, anti-nuclear antibodies (ANA) at titre of 1/320, anti-DNA-ds antibodies and marked decrease of complement levels were detected. During the following 2 years, she developed diagnostic criteria for SLE, with arthralgias, pleuritis, aseptic meningitis, haemolytic anaemia and lupus nephritis. To our knowledge, 27 cases of nodal and cutaneous KD have been reported, 9 of which later developed LE. In all these patients, the skin biopsy revealed interface dermatitis. Skin biopsy revealed a pattern of interface dermatitis in all reviewed KD cases, which evolved into LE. Even this histopathological finding was not previously considered significant; it might be a marker of evolution into LE.

Can anaerobes be acid fast? A novel, clinically relevant acid fast anaerobe.

PubMed

Navas, Maria E; Jump, Robin; Canaday, David H; Wnek, Maria D; SenGupta, Dhruba J; McQuiston, John R; Bell, Melissa

2016-08-01

Anaerobic acid fast bacilli (AFB) have not been previously reported in clinical microbiology. This is the second case report of a novel anaerobic AFB causing disease in humans. An anaerobic AFB was isolated from an abdominal wall abscess in a 64-year-old Caucasian diabetic male, who underwent distal pancreatectomy and splenectomy for resection of a pancreatic neuroendocrine tumour. The isolated bacteria were gram-variable and acid-fast, consisting of small irregular rods. The 16S rRNA gene sequence analysis showed that the isolate is a novel organism described in the literature only once before. The organism was studied at the CDC (Centers for Disease Control and Prevention) by the same group that worked with the isolates from the previous report; their findings suggest that the strain belongs to the suborder Corynebacterineae. This is the fifth reported case of an anaerobic AFB involved in clinical disease; its microbiological features and 16S RNA sequence are identical to previously reported cases. Clinical disease with this organism seems to be associated with recent history of surgery and abscess formation in deep soft tissues. Acquisition from surgical material is uncertain but seems unlikely.

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PubMed

Powis, Zöe; Hart, Alexa; Cherny, Sara; Petrik, Igor; Palmaer, Erika; Tang, Sha; Jones, Carolyn

2017-06-02

Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient. Exome sequencing of the proband, mother, and father showed a previously unreported maternally inherited RNA binding motif protein 10 (RBM10) c.1352_1353delAG (p.E451Vfs*66) alteration. Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. DES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other reported cases of TARP syndrome demonstrate significant variability in clinical phenotype. The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder.

Congenital extrahepatic portosystemic shunt complicated by the development of hepatocellular carcinoma.

PubMed

Sharma, Ruchi; Suddle, Abid; Quaglia, Alberto; Peddu, Praveen; Karani, John; Satyadas, Thomas; Heaton, Nigel

2015-10-01

Congenital extrahepatic portosystemic shunt, also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a patent ductus venous. We report 3 cases of Abernethy malformation complicated by the development of hepatocellular carcinoma. Additionally, we comprehensively reviewed all previously reported cases and highlighted common features that may help in early diagnosis and appropriate management. Patients with Abernethy malformation may have an increased propensity to develop hepatocellular carcinoma. All 5 previously reported cases, plus the three of our patients, have a type 1 (complete) shunt suggesting a role for absent portal blood flow in the pathogenesis of hepatocellular carcinoma. Congenital extrahepatic portosystemic shunt should be sought for in cases with raised serum ammonia, hepatic encephalopathy or hepatocellular carcinoma in the absence of cirrhosis.

Dermoscopic findings in Laugier-Hunziker syndrome.

PubMed

Gencoglan, Gulsum; Gerceker-Turk, Bengu; Kilinc-Karaarslan, Isil; Akalin, Taner; Ozdemir, Fezal

2007-05-01

Laugier-Hunziker syndrome (LHS) is a rare, acquired mucocutaneous hyperpigmentation often associated with longitudinal melanonychia. The clinical behavior of mucocutaneous pigmented lesions ranges from benign to highly malignant. Therefore, in most cases, the clinical diagnosis should be confirmed by further diagnostic methods. Dermoscopy is a noninvasive technique that has been used to make more accurate diagnoses of pigmented skin lesions. Nevertheless, to our knowledge, the dermoscopic features of the pigmented lesions in LHS have not been described previously. Herein, we report a case of LHS together with its dermoscopic features. The clinical examination revealed macular hyperpigmentation on the oral and genital mucosa, conjunctiva, and palmoplantar region together with longitudinal melanonychia. Dermoscopic examination of mucosal lesions on the patient's lips and vulva revealed a parallel pattern. Longitudinal homogeneous pigmentation was observed on the toenails. The pigmented macules on the palms and the sole showed a parallel furrow pattern. A skin biopsy sample taken from the labial lesion was compatible with a diagnosis of mucosal melanosis. By means of this case report, the dermoscopic features of the pigmented lesions in LHS are described for the first time, which facilitates diagnosis with a noninvasive technique. Future reports highlighting the dermoscopic features of this syndrome may simplify the diagnosis of LHS, which is thought to be underdiagnosed.

Prevalence of suicide attempt and clinical characteristics of suicide attempters with obsessive-compulsive disorder: a report from the International College of Obsessive-Compulsive Spectrum Disorders (ICOCS).

PubMed

Dell'Osso, Bernardo; Benatti, Beatrice; Arici, Chiara; Palazzo, Carlotta; Altamura, A Carlo; Hollander, Eric; Fineberg, Naomi; Stein, Dan J; Nicolini, Humberto; Lanzagorta, Nuria; Marazziti, Donatella; Pallanti, Stefano; van Ameringen, Michael; Lochner, Christine; Karamustafalioglu, Oguz; Hranov, Luchezar; Figee, Martijn; Drummond, Lynne; Rodriguez, Carolyn I; Grant, John; Denys, Damiaan; Menchon, Jose M; Zohar, Joseph

2018-02-01

Obsessive-compulsive disorder (OCD) is associated with variable risk of suicide and prevalence of suicide attempt (SA). The present study aimed to assess the prevalence of SA and associated sociodemographic and clinical features in a large international sample of OCD patients. A total of 425 OCD outpatients, recruited through the International College of Obsessive-Compulsive Spectrum Disorders (ICOCS) network, were assessed and categorized in groups with or without a history of SA, and their sociodemographic and clinical features compared through Pearson's chi-squared and t tests. Logistic regression was performed to assess the impact of the collected data on the SA variable. 14.6% of our sample reported at least one SA during their lifetime. Patients with an SA had significantly higher rates of comorbid psychiatric disorders (60 vs. 17%, p<0.001; particularly tic disorder), medical disorders (51 vs. 15%, p<0.001), and previous hospitalizations (62 vs. 11%, p<0.001) than patients with no history of SA. With respect to geographical differences, European and South African patients showed significantly higher rates of SA history (40 and 39%, respectively) compared to North American and Middle-Eastern individuals (13 and 8%, respectively) (χ2=11.4, p<0.001). The logistic regression did not show any statistically significant predictor of SA among selected independent variables. Our international study found a history of SA prevalence of ~15% in OCD patients, with higher rates of psychiatric and medical comorbidities and previous hospitalizations in patients with a previous SA. Along with potential geographical influences, the presence of the abovementioned features should recommend additional caution in the assessment of suicide risk in OCD patients.

Serial dependence in the perception of attractiveness.

PubMed

Xia, Ye; Leib, Allison Yamanashi; Whitney, David

2016-12-01

The perception of attractiveness is essential for choices of food, object, and mate preference. Like perception of other visual features, perception of attractiveness is stable despite constant changes of image properties due to factors like occlusion, visual noise, and eye movements. Recent results demonstrate that perception of low-level stimulus features and even more complex attributes like human identity are biased towards recent percepts. This effect is often called serial dependence. Some recent studies have suggested that serial dependence also exists for perceived facial attractiveness, though there is also concern that the reported effects are due to response bias. Here we used an attractiveness-rating task to test the existence of serial dependence in perceived facial attractiveness. Our results demonstrate that perceived face attractiveness was pulled by the attractiveness level of facial images encountered up to 6 s prior. This effect was not due to response bias and did not rely on the previous motor response. This perceptual pull increased as the difference in attractiveness between previous and current stimuli increased. Our results reconcile previously conflicting findings and extend previous work, demonstrating that sequential dependence in perception operates across different levels of visual analysis, even at the highest levels of perceptual interpretation.

FT-mid-IR spectroscopic investigation of fiber maturity and crystallinity at single boll level and a comparison with XRD approach

USDA-ARS?s Scientific Manuscript database

In previous study, we have reported the development of simple algorithms for determining fiber maturity and crystallinity from Fourier transform (FT) -mid-infrared (IR) measurement. Due to its micro-sampling feature, we were able to assess the fiber maturity and crystallinity at different portions o...

An Improved Botanical Search Application for Middle-and High-School Students

ERIC Educational Resources Information Center

Kajiyama, Tomoko

2016-01-01

A previously reported botanical data retrieval application has been improved to make it better suited for use in middle-and high-school science classes. This search interface is ring-structured and treats multi-faceted metadata intuitively, enabling students not only to search for plant names but also to learn about the morphological features and…

Gas and isotope chemistry of thermal features in Yellowstone National Park, Wyoming

USGS Publications Warehouse

Bergfeld, D.; Lowenstern, Jacob B.; Hunt, Andrew G.; Shanks, W.C. Pat; Evans, William

2011-01-01

This report presents 130 gas analyses and 31 related water analyses on samples collected from thermal features at Yellowstone between 2003 and 2009. An overview of previous studies of gas emissions at Yellowstone is also given. The analytical results from the present study include bulk chemistry of gases and waters and isotope values for water and steam (delta18O, dealtaD), carbon dioxide (delta13C only), methane (delta13C only), helium, neon, and argon. We include appendixes containing photos of sample sites, geographic information system (GIS) files including shape and kml formats, and analytical results in spreadsheets. In addition, we provide a lengthy discussion of previous work on gas chemistry at Yellowstone and a general discussion of the implications of our results. We demonstrate that gases collected from different thermal areas often have distinct chemical signatures, and that differences across the thermal areas are not a simple function of surface temperatures or the type of feature. Instead, gas chemistry and isotopic composition are linked to subsurface lithologies and varying contributions from magmatic, crustal, and meteoric sources.

Qualitative and Quantitative Analysis for Facial Complexion in Traditional Chinese Medicine

PubMed Central

Zhao, Changbo; Li, Guo-zheng; Li, Fufeng; Wang, Zhi; Liu, Chang

2014-01-01

Facial diagnosis is an important and very intuitive diagnostic method in Traditional Chinese Medicine (TCM). However, due to its qualitative and experience-based subjective property, traditional facial diagnosis has a certain limitation in clinical medicine. The computerized inspection method provides classification models to recognize facial complexion (including color and gloss). However, the previous works only study the classification problems of facial complexion, which is considered as qualitative analysis in our perspective. For quantitative analysis expectation, the severity or degree of facial complexion has not been reported yet. This paper aims to make both qualitative and quantitative analysis for facial complexion. We propose a novel feature representation of facial complexion from the whole face of patients. The features are established with four chromaticity bases splitting up by luminance distribution on CIELAB color space. Chromaticity bases are constructed from facial dominant color using two-level clustering; the optimal luminance distribution is simply implemented with experimental comparisons. The features are proved to be more distinctive than the previous facial complexion feature representation. Complexion recognition proceeds by training an SVM classifier with the optimal model parameters. In addition, further improved features are more developed by the weighted fusion of five local regions. Extensive experimental results show that the proposed features achieve highest facial color recognition performance with a total accuracy of 86.89%. And, furthermore, the proposed recognition framework could analyze both color and gloss degrees of facial complexion by learning a ranking function. PMID:24967342

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

PubMed

Garavelli, Livia; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Albertini, Enrico; Guareschi, Elisa; Longo, Caterina; Albertini, Giuseppe; Gelmini, Chiara; Greco, Chiara; Errico, Stefania; Savino, Gustavo; Pavanello, Marco; Happle, Rudolf; Unger, Sheila; Superti-Furga, Andrea; Grzeschik, Karl-Heinz

2013-07-01

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. Copyright © 2013 Wiley Periodicals, Inc.

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

PubMed

Wimmer, Katharina; Beilken, Andreas; Nustede, Rainer; Ripperger, Tim; Lamottke, Britta; Ure, Benno; Steinmann, Diana; Reineke-Plaass, Tanja; Lehmann, Ulrich; Zschocke, Johannes; Valle, Laura; Fauth, Christine; Kratz, Christian P

2017-01-01

In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in 'ultramutated' sporadic cancers. This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations. The patient had multiple café-au-lait macules and a pilomatricoma mimicking the clinical phenotype of constitutional mismatch repair deficiency. We hypothesize that these skin features may be common to different types of constitutional DNA repair defects associated with polyposis and early-onset cancer.

The Gemini NICI Planet-Finding Campaign: asymmetries in the HD 141569 disc

NASA Astrophysics Data System (ADS)

Biller, Beth A.; Liu, Michael C.; Rice, Ken; Wahhaj, Zahed; Nielsen, Eric; Hayward, Thomas; Kuchner, Marc J.; Close, Laird M.; Chun, Mark; Ftaclas, Christ; Toomey, Douglas W.

2015-07-01

We report here the highest resolution near-IR imaging to date of the HD 141569A disc taken as part of the NICI (near infrared coronagraphic imager) Science Campaign. We recover four main features in the NICI images of the HD 141569 disc discovered in previous Hubble Space Telescope (HST) imaging: (1) an inner ring/spiral feature. Once deprojected, this feature does not appear circular. (2) An outer ring which is considerably brighter on the western side compared to the eastern side, but looks fairly circular in the deprojected image. (3) An additional arc-like feature between the inner and outer ring only evident on the east side. In the deprojected image, this feature appears to complete the circle of the west side inner ring and (4) an evacuated cavity from 175 au inwards. Compared to the previous HST imaging with relatively large coronagraphic inner working angles (IWA), the NICI coronagraph allows imaging down to an IWA of 0.3 arcsec. Thus, the inner edge of the inner ring/spiral feature is well resolved and we do not find any additional disc structures within 175 au. We note some additional asymmetries in this system. Specifically, while the outer ring structure looks circular in this deprojection, the inner bright ring looks rather elliptical. This suggests that a single deprojection angle is not appropriate for this system and that there may be an offset in inclination between the two ring/spiral features. We find an offset of 4 ± 2 au between the inner ring and the star centre, potentially pointing to unseen inner companions.

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome.

PubMed

Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M

2015-08-01

Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible "ear clicks," (5) younger age at onset (2 years). We suggest that palatal tics are underreported. © The Author(s) 2014.

User Manual for the NASA Glenn Ice Accretion Code LEWICE: Version 2.0

NASA Technical Reports Server (NTRS)

Wright, William B.

1999-01-01

A research project is underway at NASA Glenn to produce a computer code which can accurately predict ice growth under a wide range of meteorological conditions for any aircraft surface. This report will present a description of the code inputs and outputs from version 2.0 of this code, which is called LEWICE. This version differs from previous releases due to its robustness and its ability to reproduce results accurately for different spacing and time step criteria across computing platform. It also differs in the extensive effort undertaken to compare the results against the database of ice shapes which have been generated in the NASA Glenn Icing Research Tunnel (IRT) 1. This report will only describe the features of the code related to the use of the program. The report will not describe the inner working of the code or the physical models used. This information is available in the form of several unpublished documents which will be collectively referred to as a Programmers Manual for LEWICE 2 in this report. These reports are intended as an update/replacement for all previous user manuals of LEWICE. In addition to describing the changes and improvements made for this version, information from previous manuals may be duplicated so that the user will not need to consult previous manuals to use this code.

Telangiectatic adenoma – computed tomography and magnetic resonance findings: a case report and review of the literature

PubMed Central

2009-01-01

Telangiectatic adenoma is a new classification of a hepatic lesion. It was previously named telangiectatic focal nodular hyperplasia but it is in fact true adenoma with telangiectatic features. We report here a case of telangiectatic adenoma in a 72-year-old woman. The image features are lack of a central scar, a heterogeneous lesion, hyperintensity in T1-weighted MR images, strong hyperintensity in T2-weighted MR images, and persistent contrast enhancement in delayed-phase contrast-enhanced CT or T1-weighted MR images. It is a monoclonal lesion with potential of malignancy. The treatment of telangiectatic adenoma is surgery, the same way as hepatic adenoma. Focal nodular hyperplasia may be managed by clinical follow-up alone. PMID:19128493

High-resolution spectrum of the Galactic center

NASA Technical Reports Server (NTRS)

Mahoney, W. A.; Ling, J. C.; Wheaton, W. A.

1993-01-01

Recent observations of the Galactic center region indicate the presence of a narrow gamma-ray line feature at 170 keV, and theoretical speculations suggest it may result from Compton backscattering of the 511 keV annihilation radiation. The high-resolution gamma-ray spectrometer on HEAO 3 observed the Galactic center in the fall of 1979 and in the spring of 1980. In view of the recent developments, the HEAO data were re-examined to search for this new feature and to look for possible correlations with the 511 keV line emisison. No evidence for such Compton backscattered radiation was found and the derived upper limits for emission in a line feature near 170 keV were well below previously reported fluxes, indicating possible time variability.

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

PubMed

Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

2014-01-01

Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

Rhesus monkeys (Macaca mulatta) remember agency information from past events and integrate this knowledge with spatial and temporal features in working memory.

PubMed

Hoffman, Megan L; Beran, Michael J; Washburn, David A

2018-01-01

The purpose of the present study was to examine whether rhesus monkeys remember information about their own agency-along with spatial, temporal and contextual properties-from a previously experienced event. In Experiment 1, rhesus monkeys (n = 4) used symbols to reliably indicate whether they had performed or observed an event on a computer screen. In Experiment 2, naïve and experienced monkeys (n = 8) reported agency information when stringent controls for perceptual and proprioceptive cues were included. In Experiment 3, five of the monkeys completed a task in which they reported agency information along with spatial and temporal features of events. Two monkeys performed this agency discrimination when they could not anticipate which memory test they would receive. There was also evidence that these features were integrated in memory. Implications of this research are discussed in relation to working memory, episodic memory and self-awareness in nonhuman animals.

Melanotic Xp11 translocation renal cancer: report of a case with a unique intratumoral sarcoid-like reaction.

PubMed

Ritterhouse, Lauren L; Cykowski, Matthew D; Hassell, Lewis A; Slobodov, Gennady; Bane, Barbara L

2014-04-15

Melanotic Xp11 translocation renal cancer is a rare tumor belonging to the family of microphthalmia-associated transcription factor (MiTF)/transcription factor E (TFE) neoplasms. This tumor family also includes alveolar soft part sarcoma, perivascular epithelioid cell neoplasms, Xp11 translocation renal cell carcinoma, and melanoma. To date, six confirmed melanotic Xp11 translocation cancers (five renal, one ovarian) have been reported in the literature. Here, we report the clinical, histologic, immunohistochemical, and molecular features of a unique melanotic Xp11 translocation renal cancer arising in a 34-year-old African-American female. Histologically, the tumor was composed of epithelioid tumor cells arranged in a nested pattern. The cells had clear to eosinophilic granular cytoplasm, vesicular nuclear chromatin, and prominent nucleoli. Multifocal intracytoplasmic deposits of granular brown melanin pigment were identified and confirmed by Fontana-Masson stain. An unusual histologic feature, not previously reported in melanotic Xp11 translocation renal cancer, was a sarcoid-like granulomatous reaction consisting of tight epithelioid granulomas with lymphocytic cuffing, numerous giant cells, and calcifications. Nuclear transcription factor E3 expression was identified by immunohistochemistry and TFE3 rearrangement was confirmed by fluorescence in situ hybridization. Additional immunohistochemical findings included immunoreactivity for HMB45, cathepsin K, and progesterone receptor; negative staining was seen with actin, desmin, cytokeratins, epithelial membrane antigen, CD10, vimentin, and PAX-8. The patient is currently free of disease, two years following initial clinicoradiologic presentation and twenty-two months following partial nephrectomy without additional therapy. This report further expands the spectrum of morphologic and clinical findings previously described in melanotic Xp11 translocation renal cancer, a distinctive tumor showing overlapping features between Xp11 translocation renal cell carcinoma, melanoma, and perivascular epithelioid cell neoplasms. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/7225796341180634.

Eccrine porocarcinoma of the vulva: a case report and review of the literature.

PubMed

Fujimine-Sato, Ayako; Toyoshima, Masafumi; Shigeta, Shogo; Toki, Asami; Kuno, Takashi; Sato, Izumi; Watanabe, Mika; Niikura, Hitoshi; Yaegashi, Nobuo

2016-11-10

Malignant tumors arising from the vulva account for only 0.6 % of all cancers in female patients. The predominant histologic type, representing about 90 % of these malignancies, is squamous cell carcinoma. Eccrine porocarcinoma is a rare malignant tumor arising from sweat glands. The incidence of eccrine porocarcinoma is estimated at 0.005-0.01 % of all cutaneous tumors. To the best of our knowledge, only seven previous cases of vulvar eccrine porocarcinoma have been reported in the English-language literature. We present the case of a patient with eccrine porocarcinoma of the vulva, and we summarize the clinical features of this disease using seven previously reported cases. A 54-year-old Japanese woman visited a local hospital complaining of fever and left vulvar pain for 2 months. An initial examination revealed a 1 × 1 cm, firm, ulcerative mass in the inner aspect of the left labium minorum. With a preoperative diagnosis of vulvar squamous cell carcinoma, we performed a radical local excision followed by bilateral inguinal lymphadenectomy. Histological examination showed eccrine porocarcinoma, stage IB (T1bN0M0). Radiation therapy with weekly cisplatin administration was then given as adjuvant therapy. One month after treatment was completed, computed tomography revealed multiple metastases in the bilateral lungs and in the sacral bone. The patient received three courses of chemotherapy (paclitaxel and carboplatin) and underwent palliative radiation therapy to the sacrum. She died of her disease 12 months after surgery. We report the case of a patient with eccrine porocarcinoma of the vulva and summarize the clinical features and the treatment options of eccrine porocarcinoma from a few retrospective case reports. Although eccrine porocarcinoma is a rare disease, clinicians and pathologists should be aware of its clinical and histological features and its biological behavior.

A dual small-molecule rheostat for precise control of protein concentration in Mammalian cells.

PubMed

Lin, Yu Hsuan; Pratt, Matthew R

2014-04-14

One of the most successful strategies for controlling protein concentrations in living cells relies on protein destabilization domains (DD). Under normal conditions, a DD will be rapidly degraded by the proteasome. However, the same DD can be stabilized or "shielded" in a stoichiometric complex with a small molecule, enabling dose-dependent control of its concentration. This process has been exploited by several labs to post-translationally control the expression levels of proteins in vitro as well as in vivo, although the previous technologies resulted in permanent fusion of the protein of interest to the DD, which can affect biological activity and complicate results. We previously reported a complementary strategy, termed traceless shielding (TShld), in which the protein of interest is released in its native form. Here, we describe an optimized protein concentration control system, TTShld, which retains the traceless features of TShld but utilizes two tiers of small molecule control to set protein concentrations in living cells. These experiments provide the first protein concentration control system that results in both a wide range of protein concentrations and proteins free from engineered fusion constructs. The TTShld system has a greatly improved dynamic range compared to our previously reported system, and the traceless feature is attractive for elucidation of the consequences of protein concentration in cell biology. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Central posterior capsule pigmentation in a patient with pigment dispersion and previous ocular trauma: a case report.

PubMed

Al-Mezaine, Hani S

2010-01-01

We report a 55-year-old man with unusually dense, unilateral central posterior capsule pigmentation associated with the characteristic clinical features of pigment dispersion syndrome, including a Krukenberg's spindle and dense trabecular pigmentation in both eyes. A history of an old blunt ocular trauma probably caused separation of the anterior hyaloid from the back of the lens, thereby creating an avenue by which pigment could reach the potential space of Berger's from the posterior chamber.

Central posterior capsule pigmentation in a patient with pigment dispersion and previous ocular trauma: A case report

PubMed Central

Al-Mezaine, Hani S

2010-01-01

We report a 55-year-old man with unusually dense, unilateral central posterior capsule pigmentation associated with the characteristic clinical features of pigment dispersion syndrome, including a Krukenberg's spindle and dense trabecular pigmentation in both eyes. A history of an old blunt ocular trauma probably caused separation of the anterior hyaloid from the back of the lens, thereby creating an avenue by which pigment could reach the potential space of Berger's from the posterior chamber. PMID:20534930

Osteocraniostenosis.

PubMed Central

Verloes, A; Narcy, F; Grattagliano, B; Delezoide, A L; Guibaud, P; Schaaps, J P; Le Merrer, M; Maroteaux, P

1994-01-01

We report a multiple congenital anomalies (MCA) syndrome in three unrelated fetuses consisting of extremely thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. Histopathological investigations showed abnormalities of the metaphyseal cartilage and adjacent diaphyseal ossification, excessive modelling of the metaphyses, and, in one case, dysplasia of the epiphyseal cartilage. We review three previously reported cases. We suggest the name osteocraniostenosis to describe this radiological and clinical disorder, pinpointing its major clinical and radiological features. Images PMID:7837254

HOTS: A Hierarchy of Event-Based Time-Surfaces for Pattern Recognition.

PubMed

Lagorce, Xavier; Orchard, Garrick; Galluppi, Francesco; Shi, Bertram E; Benosman, Ryad B

2017-07-01

This paper describes novel event-based spatio-temporal features called time-surfaces and how they can be used to create a hierarchical event-based pattern recognition architecture. Unlike existing hierarchical architectures for pattern recognition, the presented model relies on a time oriented approach to extract spatio-temporal features from the asynchronously acquired dynamics of a visual scene. These dynamics are acquired using biologically inspired frameless asynchronous event-driven vision sensors. Similarly to cortical structures, subsequent layers in our hierarchy extract increasingly abstract features using increasingly large spatio-temporal windows. The central concept is to use the rich temporal information provided by events to create contexts in the form of time-surfaces which represent the recent temporal activity within a local spatial neighborhood. We demonstrate that this concept can robustly be used at all stages of an event-based hierarchical model. First layer feature units operate on groups of pixels, while subsequent layer feature units operate on the output of lower level feature units. We report results on a previously published 36 class character recognition task and a four class canonical dynamic card pip task, achieving near 100 percent accuracy on each. We introduce a new seven class moving face recognition task, achieving 79 percent accuracy.This paper describes novel event-based spatio-temporal features called time-surfaces and how they can be used to create a hierarchical event-based pattern recognition architecture. Unlike existing hierarchical architectures for pattern recognition, the presented model relies on a time oriented approach to extract spatio-temporal features from the asynchronously acquired dynamics of a visual scene. These dynamics are acquired using biologically inspired frameless asynchronous event-driven vision sensors. Similarly to cortical structures, subsequent layers in our hierarchy extract increasingly abstract features using increasingly large spatio-temporal windows. The central concept is to use the rich temporal information provided by events to create contexts in the form of time-surfaces which represent the recent temporal activity within a local spatial neighborhood. We demonstrate that this concept can robustly be used at all stages of an event-based hierarchical model. First layer feature units operate on groups of pixels, while subsequent layer feature units operate on the output of lower level feature units. We report results on a previously published 36 class character recognition task and a four class canonical dynamic card pip task, achieving near 100 percent accuracy on each. We introduce a new seven class moving face recognition task, achieving 79 percent accuracy.

Discovery and characterization of a new family of lytic polysaccharide monooxygenases.

PubMed

Hemsworth, Glyn R; Henrissat, Bernard; Davies, Gideon J; Walton, Paul H

2014-02-01

Lytic polysaccharide monooxygenases (LPMOs) are a recently discovered class of enzymes capable of oxidizing recalcitrant polysaccharides. They are attracting considerable attention owing to their potential use in biomass conversion, notably in the production of biofuels. Previous studies have identified two discrete sequence-based families of these enzymes termed AA9 (formerly GH61) and AA10 (formerly CBM33). Here, we report the discovery of a third family of LPMOs. Using a chitin-degrading exemplar from Aspergillus oryzae, we show that the three-dimensional structure of the enzyme shares some features of the previous two classes of LPMOs, including a copper active center featuring the 'histidine brace' active site, but is distinct in terms of its active site details and its EPR spectroscopy. The newly characterized AA11 family expands the LPMO clan, potentially broadening both the range of potential substrates and the types of reactive copper-oxygen species formed at the active site of LPMOs.

Strain Measurements of Chondrules and Refraction Inclusion in Allende

NASA Technical Reports Server (NTRS)

Tait, Alastair W.; Fisher, Kent R.; Simon, Justin I.

2013-01-01

This study uses traditional strain measurement techniques, combined with X-ray computerized tomography (CT), to evaluate petrographic evidence in the Allende CV3 chondrite for preferred orientation and to measure strain in three dimensions. The existence of petrofabrics and lineations was first observed in carbonaceous meteorites in the 1960's. Yet, fifty years later only a few studies have reported that meteorites record such features. Impacts are often cited as the mechanism for this feature, although plastic deformation from overburden and nebular imbrication have also been proposed. Previous work conducted on the Leoville CV3 and the Parnallee LL3 chondrites, exhibited a minimum uniaxial shortening of 33% and 21%, respectively. Petrofabrics in Allende CV3 have been looked at before; previous workers using Electron Back Scatter Diffraction (EBSD) found a major-axis alignment of olivine inside dark inclusions and an "augen"-like preferred orientation of olivine grains around more competent chondrules

Psychopathy, attention, and oddball target detection: New insights from PCL-R facet scores.

PubMed

Anderson, Nathaniel E; Steele, Vaughn R; Maurer, J Michael; Bernat, Edward M; Kiehl, Kent A

2015-09-01

Psychopathy is a disorder accompanied by cognitive deficits including abnormalities in attention. Prior studies examining cognitive features of psychopaths using ERPs have produced some inconsistent results. We examined psychopathy-related differences in ERPs during an auditory oddball task in a sample of incarcerated adult males. We extend previous work by deriving ERPs with principal component analysis (PCA) and relate these to the four facets of Hare's Psychopathy Checklist Revised (PCL-R). Features of psychopathy were associated with increased target N1 amplitude (facets 1, 4), decreased target P3 amplitude (facet 1), and reduced slow wave amplitude for frequent standard stimuli (facets 1, 3, 4). We conclude that employing PCA and examining PCL-R facets improve sensitivity and help clarify previously reported associations. Furthermore, attenuated slow wave during standards may be a novel marker for psychopaths' abnormalities in attention. © 2015 Society for Psychophysiological Research.

Wide-bandwidth high-resolution search for extraterrestrial intelligence

NASA Technical Reports Server (NTRS)

Horowitz, Paul

1995-01-01

Research was accomplished during the third year of the grant on: BETA architecture, an FFT array, a feature extractor, the Pentium array and workstation, and a radio astronomy spectrometer. The BETA (this SETI project) system architecture has been evolving generally in the direction of greater robustness against terrestrial interference. The new design adds a powerful state-memory feature, multiple simultaneous thresholds, and the ability to integrate multiple spectra in a flexible state-machine architecture. The FFT array is reported with regards to its hardware verification, array production, and control. The feature extractor is responsible for maintaining a moving baseline, recognizing large spectral peaks, following the progress of previously identified interesting spectral regions, and blocking signals from regions previously identified as containing interference. The Pentium array consists of 21 Pentium-based PC motherboards, each with 16 MByte of RAM and an Ethernet interface. Each motherboard receives and processes the data from a feature extractor/correlator board set, passing on the results of a first analysis to the central Unix workstation (through which each is also booted). The radio astronomy spectrometer is a technological spinoff from SETI work. It is proposed to be a combined spectrometer and power-accumulator, for use at Arecibo Observatory to search for neutral hydrogen emission from condensations of neutral hydrogen at high redshift (z = 5).

Separation of pulsar signals from noise using supervised machine learning algorithms

NASA Astrophysics Data System (ADS)

Bethapudi, S.; Desai, S.

2018-04-01

We evaluate the performance of four different machine learning (ML) algorithms: an Artificial Neural Network Multi-Layer Perceptron (ANN MLP), Adaboost, Gradient Boosting Classifier (GBC), and XGBoost, for the separation of pulsars from radio frequency interference (RFI) and other sources of noise, using a dataset obtained from the post-processing of a pulsar search pipeline. This dataset was previously used for the cross-validation of the SPINN-based machine learning engine, obtained from the reprocessing of the HTRU-S survey data (Morello et al., 2014). We have used the Synthetic Minority Over-sampling Technique (SMOTE) to deal with high-class imbalance in the dataset. We report a variety of quality scores from all four of these algorithms on both the non-SMOTE and SMOTE datasets. For all the above ML methods, we report high accuracy and G-mean for both the non-SMOTE and SMOTE cases. We study the feature importances using Adaboost, GBC, and XGBoost and also from the minimum Redundancy Maximum Relevance approach to report algorithm-agnostic feature ranking. From these methods, we find that the signal to noise of the folded profile to be the best feature. We find that all the ML algorithms report FPRs about an order of magnitude lower than the corresponding FPRs obtained in Morello et al. (2014), for the same recall value.

Gallium arsenide (GaAs) (001) after sublimation of arsenic (As) thin-film cap, by XPS

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

Engelhard, Mark H.; Lyubinetsky, Andre; Baer, Don R.

2016-12-01

Survey and high energy resolution spectra are reported for MBE grown GaAs (001) that had been capped with As. The As cap was removed by heating in situ prior to analysis. The current data expands upon the spectral regions previously reported in Surface Science Spectra. High energy resolution spectral features reported include: 2p, 3s, 3p, 3d, and L3M45M45 peaks for As; 2p, 3s, 3p, 3d, and L3M45M45 peaks for Ga; and the valance band region.

Guidelines for Libraries Serving Hospital Patients and Disabled People in the Community. IFLA Professional Reports, No. 2.

ERIC Educational Resources Information Center

International Federation of Library Associations, The Hague (Netherlands).

These guidelines are based on the experiences of a number of librarians working in the area of library services for hospital patients and disabled people in the community, as well as work done previously by a number of national library associations. The guidelines indicate the essential features of services to disabled people and suggest…

A New Method for Calibrating Perceptual Salience across Dimensions in Infants: The Case of Color vs. Luminance

ERIC Educational Resources Information Center

Kaldy, Zsuzsa; Blaser, Erik A.; Leslie, Alan M.

2006-01-01

We report a new method for calibrating differences in perceptual salience across feature dimensions, in infants. The problem of inter-dimensional salience arises in many areas of infant studies, but a general method for addressing the problem has not previously been described. Our method is based on a preferential looking paradigm, adapted to…

Carolina bays of the Savannah River Plant

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

Schalles, J.F.; Sharitz, R.R.; Gibbons, J.W.

1989-01-01

Much of the research to date on the Carolina bays of the Savannah River Plant and elsewhere has focused on certain species or on environmental features. Different levels of detail exist for different groups of organisms and reflect the diverse interests of previous investigators. This report summarizes aspects of research to date and presents data from numerous studies. 70 refs., 14 figs., 12 tabs.

Automated Subscores for TOEFL iBT[R] Independent Essays. Research Report. ETS RR-11-39

ERIC Educational Resources Information Center

Attali, Yigal

2011-01-01

The e-rater[R] automated essay scoring system is used operationally in the scoring of TOEFL iBT[R] independent essays. Previous research has found support for a 3-factor structure of the e-rater features. This 3-factor structure has an attractive hierarchical linguistic interpretation with a word choice factor, a grammatical convention within a…

Exploring Learners' Conceptual Resources: Singapore a Level Students' Explanations in the Topic of Ionisation Energy

ERIC Educational Resources Information Center

Taber, Keith S.; Tan, Kim Chwee Daniel

2007-01-01

This paper describes findings from a study to explore Singapore A-level (Grades 11 and 12, 16-19 yr old) students' understanding of ionisation energy, an abstract and complex topic that is featured in school chemistry courses. Previous research had reported that students in the United Kingdom commonly use alternative notions based on the perceived…

Acute dyskinetic reaction in a healthy toddler following methylphenidate ingestion.

PubMed

Waugh, Jeff L

2013-07-01

Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can also trigger acute dyskinesias. This has been previously reported only in patients also taking dopamine antagonists or, less commonly, in children with developmental abnormalities. The present report describes a previously healthy toddler who developed transient torticollis and orolingual dyskinesias following accidental exposure to methylphenidate. He had no preexisting movement disorder, central nervous system injury, or developmental abnormalities--in short, none of the previously reported risk factors for this side effect. The unique features of this case led to the hypothesis that developmental shifts in dopamine signaling were the basis for his particular sensitivity to methylphenidate. If confirmed, this hypothesis has implications for the treatment of common childhood attentional and behavioral disorders. The article includes a literature review of dyskinetic/dystonic reactions in children and the developmental regulation of dopamine metabolism. Copyright © 2013 Elsevier Inc. All rights reserved.

Archeomagnetic intensity spikes: global or regional geomagnetic field features?

NASA Astrophysics Data System (ADS)

Korte, Monika; Constable, Catherine G.

2018-03-01

Variations of the geomagnetic field prior to direct observations are inferred from archeo- and paleomagnetic experiments. Seemingly unusual variations not seen in the present day and historical field are of particular interest to constrain the full range of core dynamics. Recently, archeomagnetic intensity spikes, characterised by very high field values that appear to be associated with rapid secular variation rates, have been reported from several parts of the world. They were first noted in data from the Levant at around 900 BCE. A recent re-assessment of previous and new Levantine data, involving a rigorous quality assessment, interprets the observations as an extreme local geomagnetic high with at least two intensity spikes between the 11^{th} and 8^{th} centuries BCE. Subsequent reports of similar features from Asia, the Canary Islands and Texas raise the question of whether such features might be common occurrences, or whether they might even be part of a global magnetic field feature. Here we use spherical harmonic modelling to test two hypotheses: firstly, whether the Levantine and other potential spikes might be associated with higher dipole field intensity than shown by existing global field models around 1000 BCE, and secondly, whether the observations from different parts of the world are compatible with a westward drifting intense flux patch. Our results suggest that the spikes originate from intense flux patches growing and decaying mostly in situ, combined with stronger and more variable dipole moment than shown by previous global field models. Axial dipole variations no more than 60% higher than observed in the present field, probably within the range of normal geodynamo behaviour, seem sufficient to explain the observations.

Rapid tuning shifts in human auditory cortex enhance speech intelligibility

PubMed Central

Holdgraf, Christopher R.; de Heer, Wendy; Pasley, Brian; Rieger, Jochem; Crone, Nathan; Lin, Jack J.; Knight, Robert T.; Theunissen, Frédéric E.

2016-01-01

Experience shapes our perception of the world on a moment-to-moment basis. This robust perceptual effect of experience parallels a change in the neural representation of stimulus features, though the nature of this representation and its plasticity are not well-understood. Spectrotemporal receptive field (STRF) mapping describes the neural response to acoustic features, and has been used to study contextual effects on auditory receptive fields in animal models. We performed a STRF plasticity analysis on electrophysiological data from recordings obtained directly from the human auditory cortex. Here, we report rapid, automatic plasticity of the spectrotemporal response of recorded neural ensembles, driven by previous experience with acoustic and linguistic information, and with a neurophysiological effect in the sub-second range. This plasticity reflects increased sensitivity to spectrotemporal features, enhancing the extraction of more speech-like features from a degraded stimulus and providing the physiological basis for the observed ‘perceptual enhancement' in understanding speech. PMID:27996965

Propriospinal myoclonus

PubMed Central

van der Salm, Sandra M.A.; Erro, Roberto; Cordivari, Carla; Edwards, Mark J.; Koelman, Johannes H.T.M.; van den Ende, Tom; Bhatia, Kailash P.; van Rootselaar, Anne-Fleur; Brown, Peter

2014-01-01

Objective: Propriospinal myoclonus (PSM) is a rare disorder with repetitive, usually flexor arrhythmic brief jerks of the trunk, hips, and knees in a fixed pattern. It has a presumed generation in the spinal cord and diagnosis depends on characteristic features at polymyography. Recently, a historical paradigm shift took place as PSM has been reported to be a functional (or psychogenic) movement disorder (FMD) in most patients. This review aims to characterize the clinical features, etiology, electrophysiologic features, and treatment outcomes of PSM. Methods: Re-evaluation of all published PSM cases and systematic scoring of clinical and electrophysiologic characteristics in all published cases since 1991. Results: Of the 179 identified patients with PSM (55% male), the mean age at onset was 43 years (range 6–88 years). FMD was diagnosed in 104 (58%) cases. In 12 cases (26% of reported secondary cases, 7% of total cases), a structural spinal cord lesion was found. Clonazepam and botulinum toxin may be effective in reducing jerks. Conclusions: FMD is more frequent than previously assumed. Structural lesions reported to underlie PSM are scarce. Based on our clinical experience and the reviewed literature, we recommend polymyography to assess recruitment variability combined with a Bereitschaftspotential recording in all cases. PMID:25305154

Global Failure Modes in Composite Structures for High Altitudes

NASA Technical Reports Server (NTRS)

Knauss, W. G.

2004-01-01

This report summarizes the accomplishments under the referenced grant. The work described was started under the guidance and supervision of the late Dr. James Stames as the technical contact. It was aimed at investigating the development of analysis tools to deal with the problem of rupture in reinforced structural skin of future composites-based aircraft. It was of particular interest to assess methods by which failure features reminiscent of cracks in metallic structures would develop and propagate in fiber reinforced structures in interaction with the reinforcing frame. To eventually achieve that goal it was necessary to first understand the stress or strain distribution at the front of such features so that interactions between such features and reinforcing agents could be assessed computationally. Thus the major emphasis here was on the assessment of damage front and methods on how to assess or characterize it. During the conduct of this research program Dr. Stames changed to a different NASA- internal assignment, which divorced him of the direct supervision of this grant. A student who was approximately % into the completion of his Ph.D. research needed to finish this work, and NASA funds were made available under Dr. Damodar Ambur, the successor Branch Manager for Dr. James Starnes, for the completion of this work. The current grant was the thus a new and fmal support increment for completion of the started research. Final reports for previous funding have been completed and submitted. Because of the interconnection of this last phase of the investigation with previous work it is deemed useful to make the Ph.D. thesis by Luis Gonzales the body of this report.

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

PubMed

Musa, Sara; Eyaid, Wafaa; Kamer, Kimberli; Ali, Rehab; Al-Mureikhi, Mariam; Shahbeck, Noora; Al Mesaifri, Fatma; Makhseed, Nawal; Mohamed, Zakkiriah; AlShehhi, Wafaa Ali; Mootha, Vamsi K; Juusola, Jane; Ben-Omran, Tawfeg

2018-05-03

MICU1 encodes a Ca 2+ sensing, regulatory subunit of the mitochondrial uniporter, a selective calcium channel within the organelle's inner membrane. Ca 2+ entry into mitochondria helps to buffer cytosolic Ca 2+ transients and also activates ATP production within the organelle. Mutations in MICU1 have previously been reported in 17 children from nine families with muscle weakness, fatigue, normal lactate, and persistently elevated creatine kinase, as well as variable features that include progressive extrapyramidal signs, learning disabilities, nystagmus, and cataracts. In this study, we report the clinical features of an additional 13 patients from consanguineous Middle Eastern families with recessive mutations in MICU1. Of these patients, 12/13 are homozygous for a novel founder mutation c.553C>T (p.Q185*) that is predicted to lead to a complete loss of function of MICU1, while one patient is compound heterozygous for this mutation and an intragenic duplication of exons 9 and 10. The founder mutation occurs with a minor allele frequency of 1:60,000 in the ExAC database, but in ~1:500 individual in the Middle East. All 13 of these patients presented with developmental delay, learning disability, muscle weakness and easy fatigability, and failure to thrive, as well as additional variable features we tabulate. Consistent with previous cases, all of these patients had persistently elevated serum creatine kinase with normal lactate levels, but they also exhibited elevated transaminase enzymes. Our work helps to better define the clinical sequelae of MICU1 deficiency. Furthermore, our work suggests that targeted analysis of the MICU1 founder mutation in Middle Eastern patients may be warranted.

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

Malashkevich, Vladimir N.; Higgins, Chelsea D.; Almo, Steven C.

The coiled-coil is one of the most ubiquitous and well studied protein structural motifs. Significant effort has been devoted to dissecting subtle variations of the typical heptad repeat sequence pattern that can designate larger topological features such as relative α-helical orientation and oligomer size. Here in this paper we report the X-ray structure of a model coiled-coil peptide, HA2-Del-L2seM, which forms an unanticipated core antiparallel dimer with potential sites for discrete higher-order multimerization (trimer or tetramer). In the X-ray structure, a third, partially-ordered α-helix is weakly associated with the antiparallel dimer and analytical ultracentrifugation experiments indicate the peptide forms amore » well-defined tetramer in solution. The HA2-Del-L2seM sequence is closely related to a parent model peptide, HA2-Del, which we previously reported adopts a parallel trimer; HA2-Del-L2seM differs by only hydrophobic leucine to selenomethione mutations and thus this subtle difference is sufficient to switch both relative α-helical topology and number of α-helices participating in the coiled-coil. Comparison of the X-ray structures of HA2-Del-L2seM (reported here) with the HA2-Del parent (reported previously) reveals novel interactions involving the selenomethionine residues that promote antiparallel coiled-coil configuration and preclude parallel trimer formation. Finally, these novel atomic insights are instructive for understanding subtle features that can affect coiled-coil topology and provide additional information for design of antiparallel coiled-coils.« less

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

PubMed Central

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne

2018-01-01

Purpose In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. Methods We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. Results Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. Conclusion Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS. PMID:28617417

Aniakchak National Monument and Preserve: Geologic resources inventory report

USGS Publications Warehouse

Hults, Chad P.; Neal, Christina

2015-01-01

This GRI report is a companion document to previously completed GRI digital geologic map data. It was written for resource managers to support science-informed decision making. It may also be useful for interpretation. The report was prepared using available geologic information, and the NPS Geologic Resources Division conducted no new fieldwork in association with its preparation. Sections of the report discuss distinctive geologic features and processes within the park, highlight geologic issues facing resource managers, describe the geologic history leading to the present-day landscape, and provide information about the GRI geologic map data. A poster illustrates these data. The Map Unit Properties Table summarizes report content for each geologic map unit.

The contribution of the vaccine adverse event text mining system to the classification of possible Guillain-Barré syndrome reports.

PubMed

Botsis, T; Woo, E J; Ball, R

2013-01-01

We previously demonstrated that a general purpose text mining system, the Vaccine adverse event Text Mining (VaeTM) system, could be used to automatically classify reports of an-aphylaxis for post-marketing safety surveillance of vaccines. To evaluate the ability of VaeTM to classify reports to the Vaccine Adverse Event Reporting System (VAERS) of possible Guillain-Barré Syndrome (GBS). We used VaeTM to extract the key diagnostic features from the text of reports in VAERS. Then, we applied the Brighton Collaboration (BC) case definition for GBS, and an information retrieval strategy (i.e. the vector space model) to quantify the specific information that is included in the key features extracted by VaeTM and compared it with the encoded information that is already stored in VAERS as Medical Dictionary for Regulatory Activities (MedDRA) Preferred Terms (PTs). We also evaluated the contribution of the primary (diagnosis and cause of death) and secondary (second level diagnosis and symptoms) diagnostic VaeTM-based features to the total VaeTM-based information. MedDRA captured more information and better supported the classification of reports for GBS than VaeTM (AUC: 0.904 vs. 0.777); the lower performance of VaeTM is likely due to the lack of extraction by VaeTM of specific laboratory results that are included in the BC criteria for GBS. On the other hand, the VaeTM-based classification exhibited greater specificity than the MedDRA-based approach (94.96% vs. 87.65%). Most of the VaeTM-based information was contained in the secondary diagnostic features. For GBS, clinical signs and symptoms alone are not sufficient to match MedDRA coding for purposes of case classification, but are preferred if specificity is the priority.

A Human-Autonomy Teaming Approach for a Flight-Following Task

NASA Technical Reports Server (NTRS)

Brandt, Summer L.; Russell, Ricky; Lachter, Joel; Shively, Robert

2017-01-01

Managing aircraft is becoming more complex with increasingly sophisticated automation responsible for more flight tasks. With this increased complexity, it is becoming more difficult for operators to understand what the automation is doing and why. Human involvement with increasingly autonomous systems must adjust to allow for a more dynamic relationship involving cooperation and teamwork. As part of an ongoing project to develop a framework for human-autonomy teaming (HAT) in aviation, a part-task study was conducted to demonstrate, evaluate and refine proposed critical aspects of HAT. These features were built into an automated recommender system on a ground station available from previous studies. Participants performed a flight-following task once with the original ground station (i.e., No HAT condition) and once with the HAT features enabled (i.e., HAT condition). Behavioral and subjective measures were collected; subjective measures are presented here. Overall, participants preferred the ground station with HAT features enabled compared to the station without the HAT features. Participants reported that the HAT displays and automation were preferred for keeping up with operationally important issues. Additionally, participants reported that the HAT displays and automation provided enough situation awareness to complete the task and reduced workload relative to the No HAT baseline.

Adrenal oncocytic phaeochromocytoma with putative adverse histologic features: a unique case report and review of the literature.

PubMed

Kasem, Kais; Lam, Alfred K-Y

2014-12-01

Oncocytic phaeochromocytomas are exceedingly rare tumours. To date, there are three reported cases in the literature. This report describes a case of adrenal oncocytic phaeochromocytoma with unique features and malignant potential in a 68-year-old man. The patient presented with an incidental non-functional mass discovered on routine radiological investigation, which was subsequently excised. Histologically, the tumour cells showed oncocytic features with high-grade nuclear abnormalities and foci of extension to the peri-adrenal fat. Immunohistochemistry performed was positive for chromogranin, CD56, S-100 and p53 and negative for inhibin, HMB-45, EMA, AE1/AE3, Cam 5.2 and calretinin. Electron microscopy showed electron dense granules of neurosecretory type, which confirmed the diagnosis. The malignant potential of the tumour was assessed on available histologic scoring systems, which demonstrated a high malignant potential. However, no recurrence was detected after 5 years of follow-up. Compared to all the previously reported cases of oncocytic phaeochromocytoma, this patient was the oldest on presentation, was the only case with identified high malignant potential and has the longest follow-up. A review of the literature showed that all the oncocytic phaeochromocytomas reported were non-functional, non-metastasizing and were described in women. To conclude, oncocytic phaeochromocytoma should be in the differential diagnoses of oncocytic tumours of the adrenal gland. Additional studies are needed to predict the behaviour of this entity.

Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.

PubMed

Takikawa, Keiko Miyachi; Kikuchi, Akihiko; Yokoyama, Akiko; Ono, Kyoko; Iwasawa, Yuki; Sunagawa, Sorahiro; Takagi, Kimiyo; Kawame, Hiroshi; Nakamura, Tomohiko

2008-01-01

Seckel syndrome is a rare form of primordial dwarfism and most of the previous reports have been limited to postnatal findings. We report on a fetus showing severe microcephaly, intrauterine growth restriction and a few gyri with shallow sulci on the fetal brain suggesting cortical dysplasia, followed by ultrasound and magnetic resonance imaging in the prenatal period. Cardiotocograph revealed a reassuring fetal status throughout the whole pregnancy period. A male infant weighing 1,556 g was delivered at 39 weeks' gestation, and a diagnosis of Seckel syndrome was made based on postnatal typical findings. Although previous reports on prenatal findings of Seckel syndrome are quite limited, we think that our case presents typical features of a fetus affected by this syndrome. When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis. Moreover, magnetic resonance imaging of the affected fetal brain provides further diagnostic clues. Copyright 2008 S. Karger AG, Basel.

Nursing Student Experiences Regarding Safe Use of Electronic Health Records: A Pilot Study of the Safety and Assurance Factors for EHR Resilience Guides.

PubMed

Whitt, Karen J; Eden, Lacey; Merrill, Katreena Collette; Hughes, Mckenna

2017-01-01

Previous research has linked improper electronic health record configuration and use with adverse patient events. In response to this problem, the US Office of the National Coordinator for Health Information Technology developed the Safety and Assurance Factors for EHR Resilience guides to evaluate electronic health records for optimal use and safety features. During the course of their education, nursing students are exposed to a variety of clinical practice settings and electronic health records. This descriptive study evaluated 108 undergraduate and 51 graduate nursing students' ratings of electronic health record features and safe practices, as well as what they learned from utilizing the computerized provider order entry and clinician communication Safety and Assurance Factors for EHR Resilience guide checklists. More than 80% of the undergraduate and 70% of the graduate students reported that they experienced user problems with electronic health records in the past. More than 50% of the students felt that electronic health records contribute to adverse patient outcomes. Students reported that many of the features assessed were not fully implemented in their electronic health record. These findings highlight areas where electronic health records can be improved to optimize patient safety. The majority of students reported that utilizing the Safety and Assurance Factors for EHR Resilience guides increased their understanding of electronic health record features.

IgG4-negative autoimmune pancreatitis with sclerosing cholangitis and colitis: possible association with primary sclerosing cholangitis?

PubMed

Saeki, Keita; Hozawa, Shigenari; Miyata, Naoteru; Nishizawa, Toshihiro; Soma, Hiromitsu; Iwao, Yasushi; Kameyama, Kaori; Hibi, Toshifumi

2008-01-01

We report a case of autoimmune pancreatitis (AIP) with cholangiography and histopathology showing features characteristic of primary sclerosing cholangitis (PSC) and colitis. A 55-year-old previously-healthy man was diagnosed with anti-nuclear antibody (ANA)-positive AIP according to the finding of serum biochemistry, abdominal US (ultrasonography), CT (computed tomography) and ERCP (endoscopic retrograde cholangiopancreatography). However, bead-like strictures of intrahepatic bile ducts were also found and liver tissue showed onion skin-like periductal fibrosis but no anti-IgG4-positive cells. In addition, colon fiberscopy showed a pancolitis similar to ulcerative colitis indicating that, in this case, there may be an association with PSC. Here, we report a rare case of IgG4-negative AIP with sclerosing cholangitis and colitis with many clinical features that support an association with PSC.

An Interesting Case of Oral Inverted Ductal Papilloma.

PubMed

Berridge, Natasha; Kumar, Mahesh

2016-12-01

Ductal papillomas are rare benign papillary tumours of the minor salivary glands. Previously they have been classified into three subtypes: inverted ductal papilloma (IDP), sialadenoma papilliferum and intraductal papilloma. The oral inverted ductal papilloma is the least common of these lesions, with 48 cases reported to date in a search of the English-language literature. We describe an interesting case of oral IDP and highlight the pertinent clinical and histopathological features. Importantly, unlike the histologically similar inverted papilloma (IP) of the nose and paranasal sinuses, oral IDP is a completely benign lesion and is not associated with malignant change. Clinical relevance: This case report aims to raise awareness of the lesion, oral inverted ductal papilloma (IDP). We outline the clinical features and unique histopathology of oral IDP so that clinicians may correctly diagnose such a lesion and implement appropriate treatment.

Structural and phylogenetic analysis of Rhodobacter capsulatus NifF: uncovering general features of nitrogen-fixation (nif)-flavodoxins.

PubMed

Pérez-Dorado, Inmaculada; Bortolotti, Ana; Cortez, Néstor; Hermoso, Juan A

2013-01-09

Analysis of the crystal structure of NifF from Rhodobacter capsulatus and its homologues reported so far reflects the existence of unique structural features in nif flavodoxins: a leucine at the re face of the isoalloxazine, an eight-residue insertion at the C-terminus of the 50's loop and a remarkable difference in the electrostatic potential surface with respect to non-nif flavodoxins. A phylogenetic study on 64 sequences from 52 bacterial species revealed four clusters, including different functional prototypes, correlating the previously defined as "short-chain" with the firmicutes flavodoxins and the "long-chain" with gram-negative species. The comparison of Rhodobacter NifF structure with other bacterial flavodoxin prototypes discloses the concurrence of specific features of these functional electron donors to nitrogenase.

Kindler syndrome in native Americans from Panama: report of 26 cases.

PubMed

Penagos, Homero; Jaen, Marta; Sancho, Mario T; Saborio, Manuel R; Fallas, Victor G; Siegel, Dawn H; Frieden, Ilona J

2004-08-01

To investigate the clinical, genetic, and laboratory features of 26 patients with Kindler syndrome. Case series of patients recruited when they were seen at outpatient consultations in the Department of Dermatology at the Changuinola Hospital in Bocas del Toro, Panama, between May 1986 and December 1990. Clinical history, physical examination, and laboratory studies were done at a community hospital in Panama. Twelve of the patients had further studies performed at a children's hospital in Costa Rica. A total of 26 patients were entered into the study. They were members of the Ngöbe-Buglé tribe and resided in isolated villages in rural Panama. The major findings were skin fragility with blistering (100%), poikiloderma (96%), photosensitivity (92%), severe cutaneous atrophy (89%), hyperkeratosis of the palms and soles (81%), congenital acral blisters (81%), severe periodontal disease (81%), and phimosis (80% of male subjects). In 1 large family with 10 patients, inheritance of Kindler syndrome followed that of an autosomal recessive disease. Karyotypes in 3 patients and 1 unaffected father were normal. Findings from ultrastructural studies showed replication of lamina densa in 10 patients. To our knowledge, this study represents the largest series to date of patients with Kindler syndrome. The clinical features confirm previously reported cases, and segregation analysis confirms its autosomal recessive inheritance. We also report severe phimosis as a complication, which has not been previously described in this syndrome.

A distinct variant of papillary thyroid carcinoma indicating familial adenomatous polyposis (FAP): a case report and brief review.

PubMed

Liyanapathirana, Nishantha; Seneviratne, Sanjeewa Anuruddha; Samarasekera, Dharmabandhu Nandadeva

2015-12-17

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited intestinal polyposis syndrome with an incidence of about 1/8300 births and accounts for about 1% of all colorectal cancers. It has a spectrum of extra-intestinal manifestations including thyroid carcinoma which occur in 1-2% of affected. The cribriform morular variant (CMV) is a rare but distinct histological subtype of papillary thyroid carcinoma (PTC) associated with FAP. Most of the reported cases describe the above entity in the background of well-established FAP. We report a case where both entities presenting simultaneously in a previously undiagnosed patient with FAP without a family history of polyposis. A 24 year old Asian female presented to the surgical clinic with a goitre of eight months duration and recent onset of altered bowel habits with features of anaemia. She was previously healthy and there was no family history of adenomatous polyposis, colorectal carcinoma or thyroid neoplasms. Colonoscopy revealed large bowel polyposis and fine needle aspiration of thyroid revealed a smear suspicious for malignancy. She underwent total thyroidectomy which revealed CMV PTC. Histology was characterized by a prominent cribriform pattern of growth with interspersed cell clusters arranged as morules along with papillary structures which are the key features of this subtype. Diagnosis of CMV warrants ruling out of underlying FAP, irrespective of family history or gastrointestinal symptoms.

The geology of Burnsville Cove, Bath and Highland Counties, Virginia

USGS Publications Warehouse

Swezey, Christopher; Haynes, John T.; Lambert, Richard A.; White, William B.; Lucas, Philip C.; Garrity, Christopher P.

2015-01-01

Burnsville Cove is a karst region in Bath and Highland Counties of Virginia. A new geologic map of the area reveals various units of limestone, sandstone, and siliciclastic mudstone (shale) of Silurian through Devonian age, as well as structural features such as northeast-trending anticlines and synclines, minor thrust faults, and prominent joints. Quaternary features include erosional (strath) terraces and accumulations of mud, sand, and gravel. The caves of Burnsville Cove are located within predominantly carbonate strata above the Silurian Williamsport Sandstone and below the Devonian Oriskany Sandstone. Most of the caves are located within the Silurian Tonoloway Limestone, rather than the Silurian-Devonian Keyser Limestone as reported previously.

Somatostatinoma: collision with neurofibroma and ultrastructural features.

PubMed

Varikatt, W; Yong, J L C; Killingsworth, M C

2006-11-01

The clinical presentation, histopathology and immunoelectron microscopic features of two cases of duodenal somatostatinoma are described, one of which is a hitherto unreported example of a collision tumour with a neurofibroma. Ultrastructural morphometric immunoelectron microscopy studies revealed the presence of four types of cells in both tumours, but there was no difference in the proportions of these cells between the collision tumour and the non-collision tumour. Neurosecretory granules ranging in size from 255-815 nm were generally larger than those previously reported for somatostatinomas and somatostatin was identified in granules of all sizes across this range. Neither tumour was associated with the somatostatinoma syndrome comprising associated diabetes mellitis, steatorrhoea and cholelithiasis.

Changes in the APA "Publication Manual": How the New Fifth Edition Will Affect Research Reporting in the Social Sciences.

ERIC Educational Resources Information Center

Daniel, Larry G.

The American Psychological Association (APA) has recently published the fifth edition of its "Publication Manual." This paper provides a brief overview of how this edition differs from previous editions and summarizes features of the new edition that will be likely to have an impact on social science research over the next several years.…

Synovial sarcoma of the jaw in a dog.

PubMed

Griffith, J W; Frey, R A; Sharkey, F E

1987-05-01

A case of synovial sarcoma of the jaw with pulmonary metastasis is described in a dog. It appears to be a rare or underdiagnosed neoplasm in animals and not previously reported in the jaw. Its diagnostic microscopic features are the biphasic cellular pattern and cleft formations. It may otherwise resemble haemangiopericytoma, malignant fibrous histiocytoma, reticulum cell sarcoma, fibrosarcoma, or giant-cell tumour of soft tissue.

Pulmonary hydatid embolization. Report on 2 operated cases and review of published reports.

PubMed Central

Palant, A; Deutsch, V; Kishon, Y; Lieberman, Y; Yahini, J H; Neufeld, H N

1976-01-01

Two patients with pulmonary hydatid embolization are described and commented upon in the light of 43 similar published cases. The diagnosis was strongly suspected from the medical history and the chest x-ray films and supported by angiocardiography. The angiocardiographic features of this condition have not been described previously in detail. They include amputation and filling defects of pulmonary artery branches, which are typically located proximal to a rounded tumour-like opacity seen on the plain x-ray film. Both patients underwent successful embolectomy. Images PMID:973883

Detection of interstellar sodium hydroxide in self-absorption toward the galactic center

NASA Technical Reports Server (NTRS)

Hollis, J. M.; Rhodes, P. J.

1982-01-01

A weak self-absorbed emission line, which is identified as the J = 4-3 transition of sodium hydroxide, has been detected in the direction of Sgr B2(OH). The correspondingly weak Sgr B2(QH) emission line U75406, previously reported as an unidentified spectral feature by other investigators, is consistent with the J = 3-2 transition of sodium hydroxide. This detection may represent the first evidence of a grain reaction formation mechanism for simple metal hydroxides. The detection of H62 Delta toward Orion A is also reported.

Primary Renal Cell Lymphoma: Case Report, Diagnosis, and Management.

PubMed

Thawani, Rajat; Amar, Amarendra; Patowary, Jayanta; Kaul, Sumaid; Jena, Amarnath; Das, Pratap Kishore

2017-01-01

The symptoms of primary renal lymphoma (PRL) may mimic a renal cell carcinoma. Since the diagnosis is mostly after a radical nephrectomy, we recommend a percutaneous biopsy or cytology from the renal mass in patients who have features suggestive of a lymphoma. A magnetic resonance imaging may give an image more specific for a lymphoma. There are no clinical trials for the treatment of PRL, but all previously published case reports used R-CHOP and a few patients did better than the median survival of 6 months.

Raman spectra of solid benzene under high pressure

NASA Technical Reports Server (NTRS)

Thiery, M.-M.; Kobashi, K.; Spain, I. L.

1985-01-01

Raman spectra of solid benzene have been measured at room temperature up to about 140 kbar, using the diamond anvil cell. Effort has been focused upon the lattice vibration spectra at pressures above that of phase II. It is found that a change in slopes occurs in the frequency-pressure curves at about 40 kbar. Furthermore, a new band appears above 90 kbar. These features probably correspond respectively to the II-III phase transition, which has been reported previously, and a III-IV phase transition, reported here for the first time.

Acute surgical abdomen due to phytobezoar-induced ileal obstruction.

PubMed

Salemis, Nikolaos S; Panagiotopoulos, Nikolaos; Sdoukos, Nikolaos; Niakas, Evangelos

2013-01-01

Phytobezoar-induced small bowel obstruction is an uncommon clinical entity accounting for 2-4.8% of all mechanical intestinal obstructions. In addition, presentation with features of acute surgical abdomen is extremely rare, accounting for only 1% of the patients. The aim of this report is to present a very rare case of a phytobezoar-induced small bowel obstruction in a male patient who presented with acute surgical abdomen. A correct preoperative diagnosis was made based on the patient's history and characteristic imaging features on the emergency computed tomography (CT) scan. A 55-year-old man with previous gastrectomy presented with typical manifestations of acute abdomen. CT scan demonstrated dilatated small bowel loops and an intraluminal ileal mass with a mottled appearance. At exploratory laparotomy, a phytobezoar was found impacted in the terminal ileum and was removed through an enterotomy. Phytobezoar should be considered in patients with previous gastric outlet surgery who present with bowel obstruction and features of acute surgical abdomen. The presence of a well-defined intraluminal mass with a mottled gas pattern on emergency CT scan is suggestive of an intestinal phytobezoar. Copyright © 2013 Elsevier Inc. All rights reserved.

RXTE Observations of the 1A 1118-61 in an Outburst, and the Discovery of a Cyclotron Line

NASA Technical Reports Server (NTRS)

Doroshenko, V.; Suchy, S.; Santangelo, A; Staubert, R.; Kreykenbohm, I.; Rothschild, R.; Pottschmidt, K.; Wilms, J.

2010-01-01

We present the analysis of RXTE monitoring data obtained during the January 2009 outburst of the hard X-ray transient IA 1118-61. Using these observations the broadband (3.5-120 keV) spectrum of the source was measured for the first time ever. We have found that the broadband continuum spectrum of the source is similar to other accreting pulsars and is well described by several conventionally used phenomenological models. We have discovered that regardless of the applied continuum model, a prominent broad absorption feature at approx. 55 keV is observed. We interpret this feature as a Cyclotron Resonance Scattering Feature (CRSF). The observed CRSF energy is one of the highest known and corresponds to a magnetic field of B approx. 4.8 x 10(exp 12) G in the scattering region. Furthermore, our data suggests an iron emission line presence, which was not reported previously for lA 1118-61 as well. Timing properties of the source, including a strong spin-up, were found to be similar to those observed by CGRO/BATSE during the previous outburst, however the broadband capabilities of RXTE reveal a more complicated energy dependency of the pulse-profile.

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

PubMed Central

Allanson, Judith E; Annerén, Göran; Aoki, Yoki; Armour, Christine M; Bondeson, Marie-Louise; Cave, Helene; Gripp, Karen W; Kerr, Bronwyn; Nystrom, Anna-Maja; Sol-Church, Katia; Verloes, Alain; Zenker, Martin

2011-01-01

Cardio-facio-cutaneous syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of cardio-facio-cutaneous, a mutation in one of these causative genes is not found. Cardinal features of cardio-facio-cutaneous include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. First described in 1986, more than 100 affected individuals are reported. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. Little, however, has been published on genotype-phenotype correlations. This clinical study of 186 children and young adults with mutation-proven cardio-facio-cutaneous syndrome is the largest reported to date. BRAF mutations are documented in 140 individuals (~75%), while 46 (~25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al., 1986]. While some clinical data on 136 are in the literature, fifty are not previously published. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype-phenotype correlation, being more common in individuals with a BRAF mutation. PMID:21495173

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

PubMed

Allanson, Judith E; Annerén, Göran; Aoki, Yoki; Armour, Christine M; Bondeson, Marie-Louise; Cave, Helene; Gripp, Karen W; Kerr, Bronwyn; Nystrom, Anna-Maja; Sol-Church, Katia; Verloes, Alain; Zenker, Martin

2011-05-15

Cardio-facio-cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative genes is not found. Cardinal features of CFC include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. First described in 1986, more than 100 affected individuals are reported. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. Little, however, has been published on genotype–phenotype correlations. This clinical study of 186 children and young adults with mutation-proven CFC syndrome is the largest reported to date. BRAF mutations are documented in 140 individuals (approximately 75%), while 46 (approximately 25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al. (1986); Am J Med Genet 25:413–427]. While some clinical data on 136 are in the literature, 50 are not previously published. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation.

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report

PubMed Central

Shi, Zhenshan; Deng, Yiqiong; Li, Xiumei; Li, Yueming; Cao, Dairong; Coossa, Vikash Sahadeo

2018-01-01

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians. In the present case report, a review of the known literature of PMT-MCT was conducted and the CT and MRI findings from three patient cases were described for diagnosing the small subcutaneous tumor. Typical MRI appearances of PMT-MCT were isointense relative to the muscles on T1-weighted imaging, and markedly hyperintense on T2-weighted imaging containing variably flow voids, with markedly heterogeneous/homogenous enhancement on post contrast T1-weighted fat-suppression imaging. Short time inversion recovery was demonstrated to be the optimal sequence in localizing the tumor. PMID:29552133

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report.

PubMed

Shi, Zhenshan; Deng, Yiqiong; Li, Xiumei; Li, Yueming; Cao, Dairong; Coossa, Vikash Sahadeo

2018-04-01

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians. In the present case report, a review of the known literature of PMT-MCT was conducted and the CT and MRI findings from three patient cases were described for diagnosing the small subcutaneous tumor. Typical MRI appearances of PMT-MCT were isointense relative to the muscles on T1-weighted imaging, and markedly hyperintense on T2-weighted imaging containing variably flow voids, with markedly heterogeneous/homogenous enhancement on post contrast T1-weighted fat-suppression imaging. Short time inversion recovery was demonstrated to be the optimal sequence in localizing the tumor.

Prediction of distal residue participation in enzyme catalysis

PubMed Central

Brodkin, Heather R; DeLateur, Nicholas A; Somarowthu, Srinivas; Mills, Caitlyn L; Novak, Walter R; Beuning, Penny J; Ringe, Dagmar; Ondrechen, Mary Jo

2015-01-01

A scoring method for the prediction of catalytically important residues in enzyme structures is presented and used to examine the participation of distal residues in enzyme catalysis. Scores are based on the Partial Order Optimum Likelihood (POOL) machine learning method, using computed electrostatic properties, surface geometric features, and information obtained from the phylogenetic tree as input features. Predictions of distal residue participation in catalysis are compared with experimental kinetics data from the literature on variants of the featured enzymes; some additional kinetics measurements are reported for variants of Pseudomonas putida nitrile hydratase (ppNH) and for Escherichia coli alkaline phosphatase (AP). The multilayer active sites of P. putida nitrile hydratase and of human phosphoglucose isomerase are predicted by the POOL log ZP scores, as is the single-layer active site of P. putida ketosteroid isomerase. The log ZP score cutoff utilized here results in over-prediction of distal residue involvement in E. coli alkaline phosphatase. While fewer experimental data points are available for P. putida mandelate racemase and for human carbonic anhydrase II, the POOL log ZP scores properly predict the previously reported participation of distal residues. PMID:25627867

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

PubMed

Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

2008-09-01

Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

Detailed Spectral Analysis of the 260 ks XMM-Newton Data of 1E 1207.4-5209 and Significance of a 2.1 keV Absorption Feature

NASA Astrophysics Data System (ADS)

Mori, Kaya; Chonko, James C.; Hailey, Charles J.

2005-10-01

We have reanalyzed the 260 ks XMM-Newton observation of 1E 1207.4-5209. There are several significant improvements over previous work. First, a much broader range of physically plausible spectral models was used. Second, we have used a more rigorous statistical analysis. The standard F-distribution was not employed, but rather the exact finite statistics F-distribution was determined by Monte Carlo simulations. This approach was motivated by the recent work of Protassov and coworkers and Freeman and coworkers. They demonstrated that the standard F-distribution is not even asymptotically correct when applied to assess the significance of additional absorption features in a spectrum. With our improved analysis we do not find a third and fourth spectral feature in 1E 1207.4-5209 but only the two broad absorption features previously reported. Two additional statistical tests, one line model dependent and the other line model independent, confirmed our modified F-test analysis. For all physically plausible continuum models in which the weak residuals are strong enough to fit, the residuals occur at the instrument Au M edge. As a sanity check we confirmed that the residuals are consistent in strength and position with the instrument Au M residuals observed in 3C 273.

Object-based attention underlies the rehearsal of feature binding in visual working memory.

PubMed

Shen, Mowei; Huang, Xiang; Gao, Zaifeng

2015-04-01

Feature binding is a core concept in many research fields, including the study of working memory (WM). Over the past decade, it has been debated whether keeping the feature binding in visual WM consumes more visual attention than the constituent single features. Previous studies have only explored the contribution of domain-general attention or space-based attention in the binding process; no study so far has explored the role of object-based attention in retaining binding in visual WM. We hypothesized that object-based attention underlay the mechanism of rehearsing feature binding in visual WM. Therefore, during the maintenance phase of a visual WM task, we inserted a secondary mental rotation (Experiments 1-3), transparent motion (Experiment 4), or an object-based feature report task (Experiment 5) to consume the object-based attention available for binding. In line with the prediction of the object-based attention hypothesis, Experiments 1-5 revealed a more significant impairment for binding than for constituent single features. However, this selective binding impairment was not observed when inserting a space-based visual search task (Experiment 6). We conclude that object-based attention underlies the rehearsal of binding representation in visual WM. (c) 2015 APA, all rights reserved.

Autonomous encoding of irrelevant goals and outcomes by prefrontal cortex neurons.

PubMed

Genovesio, Aldo; Tsujimoto, Satoshi; Navarra, Giulia; Falcone, Rossella; Wise, Steven P

2014-01-29

Two rhesus monkeys performed a distance discrimination task in which they reported whether a red square or a blue circle had appeared farther from a fixed reference point. Because a new pair of distances was chosen randomly on each trial, and because the monkeys had no opportunity to correct errors, no information from the previous trial was relevant to a current one. Nevertheless, many prefrontal cortex neurons encoded the outcome of the previous trial on current trials. A smaller, intermingled population of cells encoded the spatial goal on the previous trial or the features of the chosen stimuli, such as color or shape. The coding of previous outcomes and goals began at various times during a current trial, and it was selective in that prefrontal cells did not encode other information from the previous trial. The monitoring of previous goals and outcomes often contributes to problem solving, and it can support exploratory behavior. The present results show that such monitoring occurs autonomously and selectively, even when irrelevant to the task at hand.

Parvovirus B19 infection in an adult presenting with connective tissue disease-like symptoms: a report of the clinical and histological findings.

PubMed

Liles, J E; Shalin, S C; White, B A; Trigg, L B; Kaley, J R

2017-06-15

Parvovirus B19 infections in adults are usually associated with nonspecific and mild symptoms. However, cases presenting with a lupus-like syndrome have been described, leading to the hypothesis that parvovirus infection can induce connective tissue disease. Various histopathologic features of cutaneous manifestations of parvovirus have been reported, including features which overlap with those of connective tissue disease. Herein, we discuss an unusual case of Parvovirus  B19 infection in a middle-aged woman. The biopsy results showed granulomatous vasculitis and were consistent with the previously described superantigen id reaction. This case demonstrates that infectious causes should be considered in the differential diagnosis for granulomatous vasculitis and clinicopathologic correlation is required for accurate diagnosis. We also provide a review of the literature highlighting the possible role of parvovirus in induction of a connective tissue disease-like presentation.

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

PubMed

Kuroda, Yukiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

2015-02-01

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with PJS and multiple congenital anomalies. She had intellectual disability, umbilical hernia, bilateral inguinal hernias, scoliosis, and distinct facial appearance including prominent mandible, smooth philtrum, and malformed ears. She developed lip pigmentation at the age of 12 years but had no gastrointestinal polyps. Array comparative genomic hybridization revealed an approximately 610 kb deletion at 19p13.3, encompassing STK11. Together with previous reports, the identification of common clinical features suggests that microdeletion at 19p13.3 encompassing STK11 constitutes a distinctive phenotype. © 2014 Wiley Periodicals, Inc.

Hyperlexia and ambient echolalia in a case of cerebral infarction of the left anterior cingulate cortex and corpus callosum.

PubMed

Suzuki, Tadashi; Itoh, Shouichi; Hayashi, Mototaka; Kouno, Masako; Takeda, Katsuhiko

2009-10-01

We report the case of a 69-year-old woman with cerebral infarction in the left anterior cingulate cortex and corpus callosum. She showed hyperlexia, which was a distinctive reading phenomenon, as well as ambient echolalia. Clinical features also included complex disorders such as visual groping, compulsive manipulation of tools, and callosal disconnection syndrome. She read words written on the cover of a book and repeated words emanating from unrelated conversations around her or from hospital announcements. The combination of these two features due to a focal lesion has never been reported previously. The supplementary motor area may control the execution of established subroutines according to external and internal inputs. Hyperlexia as well as the compulsive manipulation of tools could be interpreted as faulty inhibition of preexisting essentially intact motor subroutines by damage to the anterior cingulate cortex reciprocally interconnected with the supplementary motor area.

Bone morphology of the hind limbs in two caviomorph rodents.

PubMed

de Araújo, F A P; Sesoko, N F; Rahal, S C; Teixeira, C R; Müller, T R; Machado, M R F

2013-04-01

In order to evaluate the hind limbs of caviomorph rodents a descriptive analysis of the Cuniculus paca (Linnaeus, 1766) and Hydrochoerus hydrochaeris (Linnaeus, 1766) was performed using anatomical specimens, radiography, computed tomography (CT) and full-coloured prototype models to generate bone anatomy data. The appendicular skeleton of the two largest rodents of Neotropical America was compared with the previously reported anatomical features of Rattus norvegicus (Berkenhout, 1769) and domestic Cavia porcellus (Linnaeus, 1758). The structures were analyzed macroscopically and particular findings of each species reported. Features including the presence of articular fibular projection and lunulae were observed in the stifle joint of all rodents. Imaging aided in anatomical description and, specifically in the identification of bone structures in Cuniculus paca and Hydrochoerus hydrochaeris. The imaging findings were correlated with the anatomical structures observed. The data may be used in future studies comparing these animals to other rodents and mammalian species. © 2012 Blackwell Verlag GmbH.

Telephone-quality pathological speech classification using empirical mode decomposition.

PubMed

Kaleem, M F; Ghoraani, B; Guergachi, A; Krishnan, S

2011-01-01

This paper presents a computationally simple and effective methodology based on empirical mode decomposition (EMD) for classification of telephone quality normal and pathological speech signals. EMD is used to decompose continuous normal and pathological speech signals into intrinsic mode functions, which are analyzed to extract physically meaningful and unique temporal and spectral features. Using continuous speech samples from a database of 51 normal and 161 pathological speakers, which has been modified to simulate telephone quality speech under different levels of noise, a linear classifier is used with the feature vector thus obtained to obtain a high classification accuracy, thereby demonstrating the effectiveness of the methodology. The classification accuracy reported in this paper (89.7% for signal-to-noise ratio 30 dB) is a significant improvement over previously reported results for the same task, and demonstrates the utility of our methodology for cost-effective remote voice pathology assessment over telephone channels.

Feasibility of dialectical behavior therapy with suicidal and self-harming adolescents with multi-problems: training, adherence, and retention.

PubMed

Tørmoen, A J; Grøholt, B; Haga, E; Brager-Larsen, A; Miller, A; Walby, F; Stanley, B; Mehlum, L

2014-01-01

We evaluated the feasibility of DBT training, adherence, and retention preparing for a randomized controlled trial of Dialectical Behavior Therapy (DBT) adapted for Norwegian adolescents engaging in self-harming behavior and diagnosed with features of borderline personality disorder. Therapists were intensively trained and evaluated for adherence. Adherence scores, treatment retention, and present and previous self-harm were assessed. Twenty-seven patients were included (mean age 15.7 years), all of them with recent self-harming behaviors and at least 3 features of Borderline Personality Disorder. Therapists were adherent and 21 (78%) patients completed the whole treatment. Three subjects reported self-harm at the end of treatment, and urges to self-harm decreased. At follow up, 7 of 10 subjects reported no self-harm. DBT was found to be well accepted and feasible. Randomized controlled trials are required to test the effectiveness of DBT for adolescents.

Primary sternum diffuse large B-cell lymphoma: A case report and review of the literature

PubMed Central

TONG, MENG-YING; ZHANG, XIAN; YU, ZHE; SUN, XIU-HUA; LI, SHUANG; ZHANG, YANG

2015-01-01

Primary bone lymphoma (PBL) is a rare disease, accounting for >1% of all cases of malignant lymphoma. Diffuse large B-cell lymphoma (DLBCL) is the most common histological type of PBL. The present study reported the case of a 68-year-old male with primary bone DLBCL, originally occurred in the sternum, which is a rare form of presentation. Computed tomography (CT), magnetic resonance imaging and bone emission CT were performed, followed by immunohistochemical analysis of a biopsy specimen, and the results were used to establish the diagnosis. At the time of diagnosis, no osseous involvement was observed. The clinical, radiological and histological features of PBL can mimic other medical conditions, thereby making the diagnosis difficult, and frequently leading to delays in treatment. The present study investigated the clinical features, management and prognosis of PBL, and reviewed previous relevant cases. PMID:26137117

Topological Galleries: A High Level User Interface for Topology Controlled Volume Rendering

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

MacCarthy, Brian; Carr, Hamish; Weber, Gunther H.

2011-06-30

Existing topological interfaces to volume rendering are limited by their reliance on sophisticated knowledge of topology by the user. We extend previous work by describing topological galleries, an interface for novice users that is based on the design galleries approach. We report three contributions: an interface based on hierarchical thumbnail galleries to display the containment relationships between topologically identifiable features, the use of the pruning hierarchy instead of branch decomposition for contour tree simplification, and drag-and-drop transfer function assignment for individual components. Initial results suggest that this approach suffers from limitations due to rapid drop-off of feature size in themore » pruning hierarchy. We explore these limitations by providing statistics of feature size as function of depth in the pruning hierarchy of the contour tree.« less

Similarities and differences between dreaming and waking cognition: an exploratory study.

PubMed

Kahan, T L; LaBerge, S; Levitan, L; Zimbardo, P

1997-03-01

Thirty-eight "practiced" dreamers (Study 1) and 50 "novice" dreamers (Study 2) completed questionnaires assessing the cognitive, metacognitive, and emotional qualities of recent waking and dreaming experiences. The present findings suggest that dreaming cognition is more similar to waking cognition than previously assumed and that the differences between dreaming and waking cognition are more quantitative than qualitative. Results from the two studies were generally consistent, indicating that high-order cognition during dreaming is not restricted to individuals practiced in dream recall or self-observation. None of the measured features was absent or infrequent in reports of either dreaming or waking experiences. Recollections of dreaming and waking experiences were similar for some cognitive features (e.g., attentional processes, internal commentary, and public self-consciousness) and different for other features (e.g., choice, event-related self-reflection, and affect).

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

PubMed

Jeffries, Lauren; Shima, Hirohito; Ji, Weizhen; Panisello-Manterola, David; McGrath, James; Bird, Lynne M; Konstantino, Monica; Narumi, Satoshi; Lakhani, Saquib

2018-02-01

Germline gain-of-function variants in SAMD9 have been associated with a high risk of mortality and a newly recognized constellation of symptoms described by the acronym MIRAGE: Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy. Here, we describe two additional patients currently living with the syndrome, including one patient with a novel de novo variant for which we provide functional data supporting its pathogenicity. We discuss features of dysmorphology, contrasting with previously described patients as well as drawing attention to additional clinical features, dysautonomia and hearing loss that have not previously been reported. We detail both patients' courses following diagnosis, with attention to treatment plans and recommended specialist care. Our patients are the oldest known with arginine-substituting amino acid variants, and we conclude that early diagnosis and multidisciplinary management may positively impact outcomes for this vulnerable group of patients. © 2017 Wiley Periodicals, Inc.

Musical emotions: predicting second-by-second subjective feelings of emotion from low-level psychoacoustic features and physiological measurements.

PubMed

Coutinho, Eduardo; Cangelosi, Angelo

2011-08-01

We sustain that the structure of affect elicited by music is largely dependent on dynamic temporal patterns in low-level music structural parameters. In support of this claim, we have previously provided evidence that spatiotemporal dynamics in psychoacoustic features resonate with two psychological dimensions of affect underlying judgments of subjective feelings: arousal and valence. In this article we extend our previous investigations in two aspects. First, we focus on the emotions experienced rather than perceived while listening to music. Second, we evaluate the extent to which peripheral feedback in music can account for the predicted emotional responses, that is, the role of physiological arousal in determining the intensity and valence of musical emotions. Akin to our previous findings, we will show that a significant part of the listeners' reported emotions can be predicted from a set of six psychoacoustic features--loudness, pitch level, pitch contour, tempo, texture, and sharpness. Furthermore, the accuracy of those predictions is improved with the inclusion of physiological cues--skin conductance and heart rate. The interdisciplinary work presented here provides a new methodology to the field of music and emotion research based on the combination of computational and experimental work, which aid the analysis of the emotional responses to music, while offering a platform for the abstract representation of those complex relationships. Future developments may aid specific areas, such as, psychology and music therapy, by providing coherent descriptions of the emotional effects of specific music stimuli. 2011 APA, all rights reserved

Clinical, Pathological, and Surgical Outcomes for Adult Pineoblastomas.

PubMed

Gener, Melissa A; Conger, Andrew R; Van Gompel, Jamie; Ariai, Mohammad S; Jentoft, Mark; Meyer, Fredric B; Cardinal, Jeremy S; Bonnin, José M; Cohen-Gadol, Aaron A

2015-12-01

Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults. Few published reports have compared the various aspects of these tumors between adults and children. The authors report a series of 12 pineoblastomas in adults from 2 institutions over 24 years. The clinical, radiologic, and pathologic features and clinical outcomes were compared with previously reported cases in children and adults. Patient age ranged from 24 to 81 years, and all but 1 patient exhibited symptoms of obstructive hydrocephalus. Three patients underwent gross total resection, and subtotal resection was performed in 3 patients. Diagnostic biopsy specimens were obtained in an additional 6 patients. Pathologically, the tumors had the classical morphologic and immunohistochemical features of pineoblastomas. Postoperatively, 10 patients received radiotherapy, and 5 patients received chemotherapy. Compared with previously reported cases, several differences were noted in clinical outcomes. Of the 12 patients, only 5 (42%) died of their disease (average length of survival, 118 months); 5 patients (42%) are alive with no evidence of disease (average length of follow-up, 92 months). One patient died of unrelated causes, and one was lost to follow-up. Patients with subtotal resections or diagnostic biopsies did not suffer a worse prognosis. Of the 9 patients with biopsy or subtotal resection, 4 are alive, 4 died of their disease, and 1 died of an unrelated hemorrhagic cerebral infarction. Although this series is small, the data suggest that pineoblastomas in adults have a less aggressive clinical course than in children. Copyright © 2015 Elsevier Inc. All rights reserved.

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

PubMed

Zuradelli, Monica; Peissel, Bernard; Manoukian, Siranoush; Zaffaroni, Daniela; Barile, Monica; Pensotti, Valeria; Cavallari, Ugo; Masci, Giovanna; Mariette, Frederique; Benski, Anne Caroline; Santoro, Armando; Radice, Paolo

2010-11-01

Double heterozygosity (DH) for BRCA1 and BRCA2 mutations is a very rare finding, particularly in non-Ashkenazi individuals, and only a few cases have been reported to date. In addition, little is known on the pathological features of the tumors that occur in DH cases and on their family history of cancer. Four carriers of pathogenic mutations in both BRCA1 and BRCA2 were identified among women who underwent genetic counseling for hereditary susceptibility to breast and ovarian carcinoma at three different Italian institutions. Clinical, pathological, and family history data were collected from medical records and during genetic counseling sessions. All identified DH cases developed breast carcinoma and three of them were also diagnosed with ovarian carcinoma. Mean ages of breast and ovarian cancer diagnosis were 42.7 and 48.6 years, respectively. The majority of breast cancers showed a BRCA1-related phenotype, being negative for hormone receptors and HER2. Two cases reported different gastrointestinal tumors among relatives. Although the individuals described in this study show more severe clinical features in comparison to previously reported BRCA1 and BRCA2 DH cases, our observations support the hypothesis of a non specific phenotype of DH cases in terms of age of disease onset. In addition, our observations indicate that in DH patients breast carcinogenesis appears to be driven mainly by the mutations in BRCA1. The possible association of DH for BRCA gene mutations with gastrointestinal tumors is in keeping with previous reports, but needs to be confirmed by further analyses.

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

PubMed

Schweitzer, Daniela N; Yano, Shoji; Earl, Dawn L; Graham, John M

2003-07-30

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives. Copyright 2003 Wiley-Liss, Inc.

Object similarity affects the perceptual strategy underlying invariant visual object recognition in rats

PubMed Central

Rosselli, Federica B.; Alemi, Alireza; Ansuini, Alessio; Zoccolan, Davide

2015-01-01

In recent years, a number of studies have explored the possible use of rats as models of high-level visual functions. One central question at the root of such an investigation is to understand whether rat object vision relies on the processing of visual shape features or, rather, on lower-order image properties (e.g., overall brightness). In a recent study, we have shown that rats are capable of extracting multiple features of an object that are diagnostic of its identity, at least when those features are, structure-wise, distinct enough to be parsed by the rat visual system. In the present study, we have assessed the impact of object structure on rat perceptual strategy. We trained rats to discriminate between two structurally similar objects, and compared their recognition strategies with those reported in our previous study. We found that, under conditions of lower stimulus discriminability, rat visual discrimination strategy becomes more view-dependent and subject-dependent. Rats were still able to recognize the target objects, in a way that was largely tolerant (i.e., invariant) to object transformation; however, the larger structural and pixel-wise similarity affected the way objects were processed. Compared to the findings of our previous study, the patterns of diagnostic features were: (i) smaller and more scattered; (ii) only partially preserved across object views; and (iii) only partially reproducible across rats. On the other hand, rats were still found to adopt a multi-featural processing strategy and to make use of part of the optimal discriminatory information afforded by the two objects. Our findings suggest that, as in humans, rat invariant recognition can flexibly rely on either view-invariant representations of distinctive object features or view-specific object representations, acquired through learning. PMID:25814936

A Machine Learning Approach to Discover Rules for Expressive Performance Actions in Jazz Guitar Music.

PubMed

Giraldo, Sergio I; Ramirez, Rafael

2016-01-01

Expert musicians introduce expression in their performances by manipulating sound properties such as timing, energy, pitch, and timbre. Here, we present a data driven computational approach to induce expressive performance rule models for note duration, onset, energy, and ornamentation transformations in jazz guitar music. We extract high-level features from a set of 16 commercial audio recordings (and corresponding music scores) of jazz guitarist Grant Green in order to characterize the expression in the pieces. We apply machine learning techniques to the resulting features to learn expressive performance rule models. We (1) quantitatively evaluate the accuracy of the induced models, (2) analyse the relative importance of the considered musical features, (3) discuss some of the learnt expressive performance rules in the context of previous work, and (4) assess their generailty. The accuracies of the induced predictive models is significantly above base-line levels indicating that the audio performances and the musical features extracted contain sufficient information to automatically learn informative expressive performance patterns. Feature analysis shows that the most important musical features for predicting expressive transformations are note duration, pitch, metrical strength, phrase position, Narmour structure, and tempo and key of the piece. Similarities and differences between the induced expressive rules and the rules reported in the literature were found. Differences may be due to the fact that most previously studied performance data has consisted of classical music recordings. Finally, the rules' performer specificity/generality is assessed by applying the induced rules to performances of the same pieces performed by two other professional jazz guitar players. Results show a consistency in the ornamentation patterns between Grant Green and the other two musicians, which may be interpreted as a good indicator for generality of the ornamentation rules.

Interstellar silicate dust in the z = 0.685 absorber toward TXS 0218+357

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

Aller, Monique C.; Kulkarni, Varsha P.; Liger, Nicholas

2014-04-10

We report the detection of interstellar silicate dust in the z {sub abs} = 0.685 absorber along the sightline toward the gravitationally lensed blazar TXS 0218+357. Using Spitzer Space Telescope Infrared Spectrograph data, we detect the 10 μm silicate absorption feature with a detection significance of 10.7σ. We fit laboratory-derived silicate dust profile templates obtained from the literature to the observed 10 μm absorption feature and find that the best single-mineral fit is obtained using an amorphous olivine template with a measured peak optical depth of τ{sub 10} = 0.49 ± 0.02, which rises to τ{sub 10} ∼ 0.67 ±more » 0.04 if the covering factor is taken into account. We also detected the 18 μm silicate absorption feature in our data with a >3σ significance. Due to the proximity of the 18 μm absorption feature to the edge of our covered spectral range, and associated uncertainty about the shape of the quasar continuum normalization near 18 μm, we do not independently fit this feature. We find, however, that the shape and depth of the 18 μm silicate absorption are well matched to the amorphous olivine template prediction, given the optical depth inferred for the 10 μm feature. The measured 10 μm peak optical depth in this absorber is significantly higher than those found in previously studied quasar absorption systems. However, the reddening, 21 cm absorption, and velocity spread of Mg II are not outliers relative to other studied absorption systems. This high optical depth may be evidence for variations in dust grain properties in the interstellar medium between this and the previously studied high redshift galaxies.« less

A Machine Learning Approach to Discover Rules for Expressive Performance Actions in Jazz Guitar Music

PubMed Central

Giraldo, Sergio I.; Ramirez, Rafael

2016-01-01

Expert musicians introduce expression in their performances by manipulating sound properties such as timing, energy, pitch, and timbre. Here, we present a data driven computational approach to induce expressive performance rule models for note duration, onset, energy, and ornamentation transformations in jazz guitar music. We extract high-level features from a set of 16 commercial audio recordings (and corresponding music scores) of jazz guitarist Grant Green in order to characterize the expression in the pieces. We apply machine learning techniques to the resulting features to learn expressive performance rule models. We (1) quantitatively evaluate the accuracy of the induced models, (2) analyse the relative importance of the considered musical features, (3) discuss some of the learnt expressive performance rules in the context of previous work, and (4) assess their generailty. The accuracies of the induced predictive models is significantly above base-line levels indicating that the audio performances and the musical features extracted contain sufficient information to automatically learn informative expressive performance patterns. Feature analysis shows that the most important musical features for predicting expressive transformations are note duration, pitch, metrical strength, phrase position, Narmour structure, and tempo and key of the piece. Similarities and differences between the induced expressive rules and the rules reported in the literature were found. Differences may be due to the fact that most previously studied performance data has consisted of classical music recordings. Finally, the rules' performer specificity/generality is assessed by applying the induced rules to performances of the same pieces performed by two other professional jazz guitar players. Results show a consistency in the ornamentation patterns between Grant Green and the other two musicians, which may be interpreted as a good indicator for generality of the ornamentation rules. PMID:28066290

Feature Selection for Chemical Sensor Arrays Using Mutual Information

PubMed Central

Wang, X. Rosalind; Lizier, Joseph T.; Nowotny, Thomas; Berna, Amalia Z.; Prokopenko, Mikhail; Trowell, Stephen C.

2014-01-01

We address the problem of feature selection for classifying a diverse set of chemicals using an array of metal oxide sensors. Our aim is to evaluate a filter approach to feature selection with reference to previous work, which used a wrapper approach on the same data set, and established best features and upper bounds on classification performance. We selected feature sets that exhibit the maximal mutual information with the identity of the chemicals. The selected features closely match those found to perform well in the previous study using a wrapper approach to conduct an exhaustive search of all permitted feature combinations. By comparing the classification performance of support vector machines (using features selected by mutual information) with the performance observed in the previous study, we found that while our approach does not always give the maximum possible classification performance, it always selects features that achieve classification performance approaching the optimum obtained by exhaustive search. We performed further classification using the selected feature set with some common classifiers and found that, for the selected features, Bayesian Networks gave the best performance. Finally, we compared the observed classification performances with the performance of classifiers using randomly selected features. We found that the selected features consistently outperformed randomly selected features for all tested classifiers. The mutual information filter approach is therefore a computationally efficient method for selecting near optimal features for chemical sensor arrays. PMID:24595058

Central serous choroidopathy in the Hallermann-Streiff Syndrome.

PubMed

Blair, N P; Brockhurst, R J; Lee, W

1981-08-01

Central serous choroidopathy was observed in a young patient with the Hallermann-Streiff syndrome. Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis. Exceptional aspects of this case include age of onset (11 years), high hyperopic refractive error (+ 13.00 sphere), and multiple recurrences caused by six separate documented leaks from the choroid. Fundus changes previously reported in the Hallermann-Streiff syndrome, interpreted as chorioretinal pigmentary changes, may have been secondary to previous undiagnosed central serous choroidopathy. Periodic ophthalmoscopy should be performed and may detect unrecognized episodes of central serous choroidopathy for which photocoagulation would be beneficial.

A case of thoracic splenosis in a post-splenectomy patient following abdominal trauma: Hello Howell-Jolly.

PubMed

Viviers, Petrus J

2014-08-01

Seeding of splenic tissue to extra-abdominal sites is a relatively infrequent consequence of open abdominal trauma. Immunological function of these small foci of ectopic splenic tissue is unknown and their use in determining the splenic function may be limited. In this case report, a patient is described who had previously undergone an emergency splenectomy. The absence of Howell-Jolly bodies on the blood smear in a patient who had previously undergone surgical splenectomy raised the suspicion of splenosis. The immunological features as well as non-invasive evaluation of these ill-defined splenic tissue sites are discussed.

Primary diaphragmatic haemangiopericytoma

PubMed Central

Seaton, Douglas

1974-01-01

Seaton, D. (1974).Thorax,29, 595-598. Primary diaphragmatic haemangiopericytoma. Haemangiopericytomas are tumours consisting of vascular spaces surrounded by proliferating pericytes. Since this neoplasm was first described (Stout and Murray, 1942) over 300 cases have been reported. All tumours of the diaphragm are rare, and a primary diaphragmatic haemangiopericytoma has not been previously recorded in the English literature. Such a case is described and the features of haemangiopericytomas are discussed. Images PMID:4610887

Evidence, Methodology, Test-Based Accountability, and Educational Policy: A Scholarly Exchange between Dr. Eric A. Hanushek and Drs. John Robert Warren and Eric Grodsky

ERIC Educational Resources Information Center

Hanushek, Eric A.; Warren, John Robert; Grodsky, Eric

2012-01-01

This exchange represents a follow-up to an article on the effects of state high school exit examinations that previously appeared in this journal (Warren, Grodsky, & Kalogrides 2009). That 2009 article was featured prominently in a report by the National Research Council (NRC) that evaluated the efficacy of test-based accountability systems.…

Complete Genome Sequence of the Avian Paramyxovirus Serotype 5 Strain APMV-5/budgerigar/Japan/TI/75.

PubMed

Hiono, Takahiro; Matsuno, Keita; Tuchiya, Kotaro; Lin, Zhifeng; Okamatsu, Masatoshi; Sakoda, Yoshihiro

2016-09-22

Here, we report the complete genome sequence of the avian paramyxovirus serotype 5 strain APMV-5/budgerigar/Japan/TI/75, which was determined using the Illumina MiSeq platform. The determined sequence shares 97% homology and similar genetic features with the previously known genome sequence of avian paramyxovirus serotype 5 strain APMV-5/budgerigar/Japan/Kunitachi/74. Copyright © 2016 Hiono et al.

Theoretical study of deuteronated PAHs as carriers for IR emission features in the ISM

NASA Astrophysics Data System (ADS)

Buragohain, Mridusmita; Pathak, Amit; Sarre, Peter; Onaka, Takashi; Sakon, Itsuki

2015-11-01

This work proposes deuteronated PAH (DPAH+) molecules as a potential carrier of the 4.4 and 4.65 μm mid-infrared emission bands that have been observationally detected towards the Orion and M17 regions. Density Functional Theory calculations have been carried out on DPAH+ molecules to see the variations in the spectral behaviour from that of a pure polycyclic aromatic hydrocarbon (PAH). DPAH+ molecules show features that arise due to the stretching of the aliphatic C-D bond. Deuterated PAHs have been previously reported as carriers for such features. However, preferred conditions of ionization of PAHs in the interstellar medium (ISM) indicates the possibility of the formation of DPAH+ molecules. Comparison of band positions of DPAH+s shows reasonable agreement with the observations. We report the effect of size of the DPAH+ molecules on band positions and intensities. This study also reports a D/H ratio ([D/H]_{sc}; the ratio of C-D stretch and C-H stretch bands per [D/H]_{num}) that is decreasing with the increasing size of DPAH+s. It is noted that large DPAH+ molecules (no. of C atoms ˜50) match the D/H ratio that has been estimated from observations. This ratio offers prospects to study the deuterium abundance and depletion in the ISM.

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

PubMed

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.

A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features

PubMed Central

Petrova, E.; Neuner, C.; Haaf, T.; Schmid, M.; Wirbelauer, J.; Jurkutat, A.; Wermke, K.; Nanda, I.; Kunstmann, E.

2014-01-01

The recurrent 10q22.3q23.2 deletion with breakpoints within low copy repeats 3 and 4 is a rare genomic disorder, reported in only 13 patients to date. The phenotype is rather uncharacteristic, which makes a clinical diagnosis difficult. A phenotypic feature described in almost all patients is a delay in speech development, albeit systematic studies are still pending. In this study, we report on a boy with an LCR3/4-flanked 10q22.3q23.2 deletion exhibiting an age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate – a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. The phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable, so counseling the families regarding the prognosis of an affected child should be done with caution. Long-term studies of affected children are needed to delineate the natural history of this rare disorder. PMID:24550761

Phosphaturic mesenchymal tumour mixed connective tissue variant: report of three cases with unusual histological findings.

PubMed

Shustik, David A; Ng, David Ce; Sittampalam, Kesavan

2015-01-01

Phosphaturic mesenchymal tumour mixed connective tissue variant (PMTMCT) is a rare tumour occurring in bone and soft tissue that usually behaves in a benign manner. Elaboration of biologically active substances by this tumour gives rise to a paraneoplastic syndrome known as oncogenic osteomalacia, manifesting clinically as bone pain, generalized weakness and pathological fractures. Recognition of PMTMCT and its associated syndrome is important, as resection of the tumour in most instances results in prompt resolution of symptoms. Previously reported cases of this tumour have emphasized the consistent presence of certain histological features that are considered prerequisite for making the diagnosis of PMTMCT. We describe three cases of PMTMCT, of which two first presented with progressive symptoms of osteomalacia and one remained clinically silent aside from the symptom of a palpable lump. Our cases highlight the wide-ranging histological patterns displayed by these tumours, and draw attention to certain microscopic findings that until now have been given little if any mention. Tentacular growth pattern and satellite nodules appear to be common findings in PMTMCTs, and can make complete surgical excision of these tumours challenging. The ability of this otherwise histologically benign tumour to permeate vascular spaces has to our knowledge never been described previously. One tumour lacked the characteristic calcifying matrix of PMTMCT, suggesting that in some tumours this defining feature may be focal if not entirely absent. PMTMCT shares features with and can resemble a variety of bone and soft tissue neoplasms, requiring the surgical pathologist to be familiar with this entity.

Phosphaturic mesenchymal tumour mixed connective tissue variant: report of three cases with unusual histological findings

PubMed Central

Shustik, David A; Ng, David CE; Sittampalam, Kesavan

2015-01-01

Phosphaturic mesenchymal tumour mixed connective tissue variant (PMTMCT) is a rare tumour occurring in bone and soft tissue that usually behaves in a benign manner. Elaboration of biologically active substances by this tumour gives rise to a paraneoplastic syndrome known as oncogenic osteomalacia, manifesting clinically as bone pain, generalized weakness and pathological fractures. Recognition of PMTMCT and its associated syndrome is important, as resection of the tumour in most instances results in prompt resolution of symptoms. Previously reported cases of this tumour have emphasized the consistent presence of certain histological features that are considered prerequisite for making the diagnosis of PMTMCT. We describe three cases of PMTMCT, of which two first presented with progressive symptoms of osteomalacia and one remained clinically silent aside from the symptom of a palpable lump. Our cases highlight the wide-ranging histological patterns displayed by these tumours, and draw attention to certain microscopic findings that until now have been given little if any mention. Tentacular growth pattern and satellite nodules appear to be common findings in PMTMCTs, and can make complete surgical excision of these tumours challenging. The ability of this otherwise histologically benign tumour to permeate vascular spaces has to our knowledge never been described previously. One tumour lacked the characteristic calcifying matrix of PMTMCT, suggesting that in some tumours this defining feature may be focal if not entirely absent. PMTMCT shares features with and can resemble a variety of bone and soft tissue neoplasms, requiring the surgical pathologist to be familiar with this entity. PMID:26261662

Contrasting natural histories of thoracic spine pneumatocysts: resolution versus rapid enlargement

PubMed Central

Wilkinson, V H; Carroll, T; Hoggard, N

2011-01-01

An intraosseous pneumatocyst is an unusual cause of gas in a vertebral body and is rarely reported in the thoracic spine. We report the evolution of thoracic spine pneumatocysts, one that enlarged rapidly with resorption of fluid and one that resolved. A 65-year-old female with lower back and left leg pain underwent MRI of the lumbar spine, which demonstrated a well-defined lesion in a T10 vertebral body of low-signal on T1 and T2 weighted imaging. CT confirmed this as a gas-containing cyst. Review of previous imaging showed that this lesion had initially contained fluid and had expanded rapidly over 14 months. It also showed smaller pneumatocysts, which had resolved. The variable natural history and imaging features of pneumatocysts make them an important differential diagnosis of an intravertebral lesion. Their aetiology is not known, but previous case reports suggest that they can occur spontaneously or in association with vacuum phenomenon in adjacent discs or facet joints. Previous reports have observed that they can fill with granulation tissue or fluid, and the case we report demonstrates that this fluid can be resorbed and that the pneumatocyst can undergo rapid enlargement. A pneumatocyst is a differential diagnosis for an expanding intravertebral lesion of indeterminate MRI characteristics. The diagnosis can be made with CT if the lesion is gas or gas and fluid filled. PMID:21415298

Hearing improvement in a patient with variant Muckle‐Wells syndrome in response to interleukin 1 receptor antagonism

PubMed Central

Rynne, M; Maclean, C; Bybee, A; McDermott, M F; Emery, P

2006-01-01

Background Muckle‐Wells syndrome (MWS), familial cold autoinflammatory syndrome, and neonatal onset multisystem inflammatory disease, also called chronic, infantile, neurological, cutaneous, and articular syndrome, are three hereditary autoinflammatory syndromes caused by mutations affecting the CIAS1/NALP3 gene on chromosome 1q44. The proinflammatory cytokine, interleukin 1β, is believed to have a fundamental role in their pathogenesis. Case report The case is described of a 59 year old white woman who presented with increasingly severe MWS‐type features over a 15 year period. The response to interleukin 1β inhibition with anakinra was dramatic, including a reduction in intracranial pressure with associated auditory improvement, as demonstrated by serial audiometry. Conclusions The confirmed improvement in hearing after initiation of interleukin 1 receptor antagonism corroborates previous reports that specific blockade of this single cytokine reverses most of the symptoms of this group of CIAS1/NALP3 related autoinflammatory conditions, including the sensorineural deafness, which has not been previously reported. PMID:16531551

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

PubMed

Abbasi, Ansar A; Blaesius, Kathrin; Hu, Hao; Latif, Zahid; Picker-Minh, Sylvie; Khan, Muhammad N; Farooq, Sundas; Khan, Muzammil A; Kaindl, Angela M

2017-12-01

TRAPPC9 gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world-wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non-syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous TRAPPC9 gene mutations, the novel nonsense mutation c.2065G>T (p.E689*) and the previously identified nonsense mutation c.1423C>T (p.R475*). We provide an overview of previously reported clinical features and highlight common symptoms and variability of MRT13. Common findings are intellectual disability and absent speech, and frequently microcephaly, motor delay and pathological findings on MRI including diminished cerebral white matter volume are present. Mutations in TRAPPC9 should be considered in non-syndromic autosomal recessive intellectual disability with severe speech disorder. © 2017 Wiley Periodicals, Inc.

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

PubMed

O'Rourke, Declan J; Ryan, Stephanie; Salomons, Gajja; Jakobs, Cornelis; Monavari, Ahmad; King, Mary D

2009-05-01

Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imaging, and treatment data of two female siblings (18y and 13y) with an unusual phenotype of GAMT deficiency. The oldest sibling had subacute onset of a movement disorder at age 17 years, later than has been previously reported. The younger sibling had better language skills than previously described in this disorder. After treatment with creatine, arginine restriction and ornithine-supplemented diet, seizure severity and movement disorder were reduced but cognition did not improve. This report confirms that GAMT deficiency, a heterogeneous, potentially treatable disorder, detected by increased levels of guanidinoacetate in body fluids (e.g. plasma or urine) or by an abnormal creatine peak on magnetic resonance spectroscopy, should be considered in patients of any age with unexplained, apparently static learning disability and epilepsy.

Prediction of heterotrimeric protein complexes by two-phase learning using neighboring kernels

PubMed Central

2014-01-01

Background Protein complexes play important roles in biological systems such as gene regulatory networks and metabolic pathways. Most methods for predicting protein complexes try to find protein complexes with size more than three. It, however, is known that protein complexes with smaller sizes occupy a large part of whole complexes for several species. In our previous work, we developed a method with several feature space mappings and the domain composition kernel for prediction of heterodimeric protein complexes, which outperforms existing methods. Results We propose methods for prediction of heterotrimeric protein complexes by extending techniques in the previous work on the basis of the idea that most heterotrimeric protein complexes are not likely to share the same protein with each other. We make use of the discriminant function in support vector machines (SVMs), and design novel feature space mappings for the second phase. As the second classifier, we examine SVMs and relevance vector machines (RVMs). We perform 10-fold cross-validation computational experiments. The results suggest that our proposed two-phase methods and SVM with the extended features outperform the existing method NWE, which was reported to outperform other existing methods such as MCL, MCODE, DPClus, CMC, COACH, RRW, and PPSampler for prediction of heterotrimeric protein complexes. Conclusions We propose two-phase prediction methods with the extended features, the domain composition kernel, SVMs and RVMs. The two-phase method with the extended features and the domain composition kernel using SVM as the second classifier is particularly useful for prediction of heterotrimeric protein complexes. PMID:24564744

Feature-based attention: it is all bottom-up priming.

PubMed

Theeuwes, Jan

2013-10-19

Feature-based attention (FBA) enhances the representation of image characteristics throughout the visual field, a mechanism that is particularly useful when searching for a specific stimulus feature. Even though most theories of visual search implicitly or explicitly assume that FBA is under top-down control, we argue that the role of top-down processing in FBA may be limited. Our review of the literature indicates that all behavioural and neuro-imaging studies investigating FBA suffer from the shortcoming that they cannot rule out an effect of priming. The mere attending to a feature enhances the mandatory processing of that feature across the visual field, an effect that is likely to occur in an automatic, bottom-up way. Studies that have investigated the feasibility of FBA by means of cueing paradigms suggest that the role of top-down processing in FBA is limited (e.g. prepare for red). Instead, the actual processing of the stimulus is needed to cause the mandatory tuning of responses throughout the visual field. We conclude that it is likely that all FBA effects reported previously are the result of bottom-up priming.

Feature-based attention: it is all bottom-up priming

PubMed Central

Theeuwes, Jan

2013-01-01

Feature-based attention (FBA) enhances the representation of image characteristics throughout the visual field, a mechanism that is particularly useful when searching for a specific stimulus feature. Even though most theories of visual search implicitly or explicitly assume that FBA is under top-down control, we argue that the role of top-down processing in FBA may be limited. Our review of the literature indicates that all behavioural and neuro-imaging studies investigating FBA suffer from the shortcoming that they cannot rule out an effect of priming. The mere attending to a feature enhances the mandatory processing of that feature across the visual field, an effect that is likely to occur in an automatic, bottom-up way. Studies that have investigated the feasibility of FBA by means of cueing paradigms suggest that the role of top-down processing in FBA is limited (e.g. prepare for red). Instead, the actual processing of the stimulus is needed to cause the mandatory tuning of responses throughout the visual field. We conclude that it is likely that all FBA effects reported previously are the result of bottom-up priming. PMID:24018717

Cytological features of warthin-like papillary thyroid carcinoma: A case report with review of previous cytology cases.

PubMed

Vallonthaiel, Archana George; Agarwal, Shipra; Jain, Deepali; Yadav, Rajni; Damle, Nishikant A

2017-09-01

Warthin-like papillary thyroid carcinoma (WLPTC) is a rare morphological variant of papillary thyroid carcinoma which mimics various benign and malignant lesions on thyroid aspiration cytology. As correct cytological diagnosis is the cornerstone for appropriate patient management, awareness of the salient cytomorphological characteristics of this tumor is essential. Here, we present cytological features of a case of WLPTC along with discussion of the common differential diagnoses and a brief review of the literature to ascertain the most consistent cytological findings of WLPTC. The present case also harboured BRAFV600E mutation which is the commonest molecular alteration seen in WLPTC. © 2017 Wiley Periodicals, Inc.

Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.

PubMed

Thomas, Anna K; Egelhoff, John C; Curran, John G; Thomas, Bobby

2016-03-01

Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis.

Dielectric spectroscopy in benzophenone: the beta relaxation and its relation to the mode-coupling Cole-Cole peak.

PubMed

Pardo, L C; Lunkenheimer, P; Loidl, A

2007-09-01

We report a thorough characterization of the glassy dynamics of benzophenone by broadband dielectric spectroscopy. We detect a well-pronounced beta relaxation peak developing into an excess wing with increasing temperature. A previous analysis of results from Optical-Kerr-effect measurements of this material within the mode-coupling theory revealed a high-frequency Cole-Cole peak. We address the question if this phenomenon also may explain the Johari-Goldstein beta relaxation, a so-far unexplained spectral feature inherent to glass-forming matter, mainly observed in dielectric spectra. Our results demonstrate that according to the present status of theory, both spectral features seem not to be directly related.

Human T-cell lymphotropic virus (HTLV)-associated encephalopathy: an under-recognised cause of acute encephalitis? Case series and literature review.

PubMed

Crawshaw, Ania A; Dhasmana, Divya; Jones, Brynmor; Gabriel, Carolyn M; Sturman, Steve; Davies, Nicholas W S; Taylor, Graham P

2018-04-01

Human T-cell lymphotropic virus (HTLV)-1-associated myelopathy (HAM) is well described. Clinical features are predominantly consistent with cord pathology, though imaging and autopsy studies also demonstrate brain inflammation. In general, this is subclinical; however, six cases have previously been reported of encephalopathy in HTLV-1-infected patients, without alternative identified aetiology. We describe three further cases of encephalitis in the UK HAM cohort (n = 142), whereas the annual incidence of acute encephalitis in the general population is 0.07-12.6 per 100,000. Clinical features included reduced consciousness, fever/hypothermia, headaches, seizures, and focal neurology. Investigation showed: raised CSF protein; pleocytosis; raised CSF:peripheral blood mononuclear cell HTLV-1 proviral load ratio; and MRI either normal or showing white matter changes in brain and cord. Four of the six previous case reports of encephalopathy in HTLV-infected patients also had HAM. Histopathology, reported in three, showed perivascular predominantly CD8+ lymphocytic infiltrates in the brain. One had cerebral demyelination, and all had cord demyelination. We have reviewed the existing six cases in the literature, together with our three new cases. In all seven with HAM, the spastic paraparesis deteriorated sub-acutely preceding encephalitis. Eight of the nine were female, and four of the seven treated with steroids improved. We propose that HTLV-associated encephalopathy may be part of the spectrum of HTLV-1-induced central nervous system disease.

Information presentation features and comprehensibility of hospital report cards: design analysis and online survey among users.

PubMed

Sander, Uwe; Emmert, Martin; Dickel, Jochen; Meszmer, Nina; Kolb, Benjamin

2015-03-16

Improving the transparency of information about the quality of health care providers is one way to improve health care quality. It is assumed that Internet information steers patients toward better-performing health care providers and will motivate providers to improve quality. However, the effect of public reporting on hospital quality is still small. One of the reasons is that users find it difficult to understand the formats in which information is presented. We analyzed the presentation of risk-adjusted mortality rate (RAMR) for coronary angiography in the 10 most commonly used German public report cards to analyze the impact of information presentation features on their comprehensibility. We wanted to determine which information presentation features were utilized, were preferred by users, led to better comprehension, and had similar effects to those reported in evidence-based recommendations described in the literature. The study consisted of 5 steps: (1) identification of best-practice evidence about the presentation of information on hospital report cards; (2) selection of a single risk-adjusted quality indicator; (3) selection of a sample of designs adopted by German public report cards; (4) identification of the information presentation elements used in public reporting initiatives in Germany; and (5) an online panel completed an online questionnaire that was conducted to determine if respondents were able to identify the hospital with the lowest RAMR and if respondents' hospital choices were associated with particular information design elements. Evidence-based recommendations were made relating to the following information presentation features relevant to report cards: evaluative table with symbols, tables without symbols, bar charts, bar charts without symbols, bar charts with symbols, symbols, evaluative word labels, highlighting, order of providers, high values to indicate good performance, explicit statements of whether high or low values indicate good performance, and incomplete data ("N/A" as a value). When investigating the RAMR in a sample of 10 hospitals' report cards, 7 of these information presentation features were identified. Of these, 5 information presentation features improved comprehensibility in a manner reported previously in literature. To our knowledge, this is the first study to systematically analyze the most commonly used public reporting card designs used in Germany. Best-practice evidence identified in international literature was in agreement with 5 findings about German report card designs: (1) avoid tables without symbols, (2) include bar charts with symbols, (3) state explicitly whether high or low values indicate good performance or provide a "good quality" range, (4) avoid incomplete data (N/A given as a value), and (5) rank hospitals by performance. However, these findings are preliminary and should be subject of further evaluation. The implementation of 4 of these recommendations should not present insurmountable obstacles. However, ranking hospitals by performance may present substantial difficulties.

A duplication of the mouth associated with a dysontogenic cyst: a case report and discussion of theories of origin.

PubMed

Mews, Lorissa; Isaac, Andre; Leonard, Norma; Lacson, Atilano G; AlQudehy, Zeinab Ali; El-Hakim, Hamdy

2014-05-01

IMPORTANCE Diprosopus is a medical condition that refers to full or partial craniofacial duplication. A particular subset of this condition, duplication of the mouth, is an exceedingly rare condition, with 7 reported cases in the medical literature. The embryogenesis and mechanism of disease are not well understood. The objective of this report was to describe a case of partial facial duplication with a discussion of the previous literature, leading to a proposed theory of embryogenesis for this rare anomaly. OBSERVATIONS We present a rare case of duplication of the mouth associated with an intraoral dysontogenic cyst, which presented with upper airway obstruction. The diagnostic and management strategies are discussed, as well as the histopathological features and theories of embryogenesis. CONCLUSIONS AND RELEVANCE On the basis of our findings, we propose the mechanism of origin for duplication of the mouth to be duplication of the first branchial arch. This case offers a deeper understanding of the mechanism of this disease than previously reported. Additional basic science and clinical research is needed to corroborate this theory.

Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome.

PubMed

Lim, Fong-Fong; Ng, Yan-Yan; Hu, Jui-Ming; Chen, Suh-Jen; Su, Pen-Hua; Chen, Jia-Yuh

2010-10-01

Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported. Copyright © 2010 Taiwan Pediatric Association. Published by Elsevier B.V. All rights reserved.

A Case Report of Gender Dysphoria with Morbid Jealousy in a Natal Female

PubMed Central

Rao, G. Prasad; Aparna, B.

2017-01-01

Gender dysphoria is a new entity introduced in the Diagnostic and Statistical Manual of Mental Disorder V to address the distress of the previously labeled gender identity disorder patients. It is less commonly seen in natal females, often starting in their childhood. Adults and adolescent natal females with early-onset gender dysphoria are almost always gynephilic. This case report is presented to discuss the interesting evolution of the symptoms in gender dysphoria case with difficulties in adjusting to the assigned sexual role, relationship problems, morbid jealousy, and severe depressive features with suicidal ideations. PMID:29284816

Modular, high power, variable R dynamic electrical load simulator

NASA Technical Reports Server (NTRS)

Joncas, K. P.

1974-01-01

The design of a previously developed basic variable R load simulator was entended to increase its power dissipation and transient handling capabilities. The delivered units satisfy all design requirements, and provides for a high power, modular simulation capability uniquely suited to the simulation of complex load responses. In addition to presenting conclusions and recommendations and pertinent background information, the report covers program accomplishments; describes the simulator basic circuits, transfer characteristic, protective features, assembly, and specifications; indicates the results of simulator evaluation, including burn-in and acceptance testing; provides acceptance test data; and summarizes the monthly progress reports.

Aggressive fibromatosis (fibrosarcoma) of the facial nerve.

PubMed

Pulec, J L

1993-07-01

Aggressive fibromatosis of the facial nerve is a very rare tumor. Three cases have been previously reported. The tumor is locally recurrent and often has a fatal outcome. This report is of a ten-year-old boy whose tumor originally developed in the parotid area with subsequent spread to the base of the skull, the neck and the cerebellopontine angle. Treatment was by wide surgical excision, radiation therapy and chemotherapy. Despite treatment, the patient died. The clinical features of this case will be described. Only wide surgical excision early in the course of the disease may offer a chance for cure.

Wearable EEG via lossless compression.

PubMed

Dufort, Guillermo; Favaro, Federico; Lecumberry, Federico; Martin, Alvaro; Oliver, Juan P; Oreggioni, Julian; Ramirez, Ignacio; Seroussi, Gadiel; Steinfeld, Leonardo

2016-08-01

This work presents a wearable multi-channel EEG recording system featuring a lossless compression algorithm. The algorithm, based in a previously reported algorithm by the authors, exploits the existing temporal correlation between samples at different sampling times, and the spatial correlation between different electrodes across the scalp. The low-power platform is able to compress, by a factor between 2.3 and 3.6, up to 300sps from 64 channels with a power consumption of 176μW/ch. The performance of the algorithm compares favorably with the best compression rates reported up to date in the literature.

Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7.

PubMed

Surapolchai, Pacharapan; Ha, Shau-Yin; Chan, Godfrey Chi-Fung; Lukito, Johannes B; Wan, Thomas S K; So, Chi-Chiu; Chiang, Alan Kwok-Shing

2013-03-01

Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.

Easily obtainable clinical features increase the diagnostic accuracy for latent autoimmune diabetes in adults: an evidence-based report.

PubMed

Lutgens, Maurice W M D; Meijer, Melanie; Peeters, Babette; Poulsen, Marie-Louise N F; Rutten, Marjet J; Bots, Michiel L; van der Heijden, Geert J M G; Soedamah-Muthu, Sabita S

2008-12-01

Latent autoimmune diabetes in adults (LADA) represents a subgroup of diabetes mellitus. LADA is characterised by adult-onset diabetes and circulating autoimmune antibodies. LADA patients may need a different therapeutic approach than the usual type 2 diabetes mellitus. When LADA is inadequately diagnosed as type 2 diabetes mellitus, LADA patients will mistakenly be exposed to a high dose of oral glucose lowering drugs and their possible side effects. To assess which clinical features predict the presence or absence of LADA in patients older than 25 years presenting with hyperglycemia. A structured Medline and Embase search was conducted. Titles and abstracts were screened using predetermined selection criteria. Critical appraisal was based on standardized validity criteria for diagnostic research. One-hundred and eighty-four papers were retrieved of which after assessment of relevance and validity 2 studies remained for further analysis. One study reported a probability of LADA of 0.99 with one or two out of the following five clinical features: age at onset <50 years; acute symptoms; BMI<25 kg/m(2); a history of autoimmune disease; a family history positive for diabetes mellitus. The other study reported a probability of LADA of zero with none of the following clinical features and of 0.32 with one out of three: fasting blood glucose> or =15 mmol/l and/or HbA(1c)> or =10%; 10% reduction in body weight in the previous 3 months; BMI<25 kg/m(2). Further testing for LADA by measurement of autoimmune antibodies appears to be unnecessary in the absence of a specific set of clinical features. Before initiating therapy applying the above criteria may help to separate LADA from usual type 2 diabetes.

The Contribution of the Vaccine Adverse Event Text Mining System to the Classification of Possible Guillain-Barré Syndrome Reports

PubMed Central

Botsis, T.; Woo, E. J.; Ball, R.

2013-01-01

Background We previously demonstrated that a general purpose text mining system, the Vaccine adverse event Text Mining (VaeTM) system, could be used to automatically classify reports of an-aphylaxis for post-marketing safety surveillance of vaccines. Objective To evaluate the ability of VaeTM to classify reports to the Vaccine Adverse Event Reporting System (VAERS) of possible Guillain-Barré Syndrome (GBS). Methods We used VaeTM to extract the key diagnostic features from the text of reports in VAERS. Then, we applied the Brighton Collaboration (BC) case definition for GBS, and an information retrieval strategy (i.e. the vector space model) to quantify the specific information that is included in the key features extracted by VaeTM and compared it with the encoded information that is already stored in VAERS as Medical Dictionary for Regulatory Activities (MedDRA) Preferred Terms (PTs). We also evaluated the contribution of the primary (diagnosis and cause of death) and secondary (second level diagnosis and symptoms) diagnostic VaeTM-based features to the total VaeTM-based information. Results MedDRA captured more information and better supported the classification of reports for GBS than VaeTM (AUC: 0.904 vs. 0.777); the lower performance of VaeTM is likely due to the lack of extraction by VaeTM of specific laboratory results that are included in the BC criteria for GBS. On the other hand, the VaeTM-based classification exhibited greater specificity than the MedDRA-based approach (94.96% vs. 87.65%). Most of the VaeTM-based information was contained in the secondary diagnostic features. Conclusion For GBS, clinical signs and symptoms alone are not sufficient to match MedDRA coding for purposes of case classification, but are preferred if specificity is the priority. PMID:23650490

A New Approach to Automated Labeling of Internal Features of Hardwood Logs Using CT Images

Treesearch

Daniel L. Schmoldt; Pei Li; A. Lynn Abbott

1996-01-01

The feasibility of automatically identifying internal features of hardwood logs using CT imagery has been established previously. Features of primary interest are bark, knots, voids, decay, and clear wood. Our previous approach: filtered original CT images, applied histogram segmentation, grew volumes to extract 3-d regions, and applied a rule base, with Dempster-...

GBM skin metastasis: a case report and review of the literature

PubMed Central

Lewis, Gary D; Rivera, Andreana L; Tremont-Lukats, Ivo W; Ballester-Fuentes, Leomar Y; Zhang, Yi Jonathan; Teh, Bin S

2017-01-01

Glioblastoma (GBM) is the most common type of malignant tumor found in the brain, and acts very aggressively by quickly and diffusely infiltrating the surrounding brain parenchyma. Despite its aggressive nature, GBM is rarely found to spread extracranially and develop distant metastases. The most common sites of these rare metastases are the lungs, pleura and cervical lymph nodes. There are also a few case reports of skin metastasis. We present the clinical, imaging and pathologic features of a case of a GBM with metastasis to the soft tissue scar and skin near the original craniotomy site. In addition, we discuss the details of this case in the context of the previously reported literature. PMID:28718312

Methamphetamine-related brainstem haemorrhage.

PubMed

Chiu, Zelia K; Bennett, Iwan E; Chan, Patrick; Rosenfeld, Jeffrey V

2016-10-01

We report the case of an otherwise healthy 29-year-old woman who presented with a brainstem haemorrhage following intravenous methamphetamine use. Extensive investigation did not reveal an underlying pathology, and the development of symptoms was temporally related to methamphetamine injection. Although intracerebral haemorrhage secondary to methamphetamine use is well documented, this report describes a haemorrhage within the brainstem which is a rare location. While animal studies have demonstrated the potential of methamphetamines to produce brainstem haemorrhages, there has only been one previous report describing a haemorrhage in this location due to amphetamine use in humans. We conclude with a brief discussion of the clinical features and aetiology of methamphetamine-related stroke. Copyright © 2016 Elsevier Ltd. All rights reserved.

The description of friction of silicon MEMS with surface roughness: virtues and limitations of a stochastic Prandtl-Tomlinson model and the simulation of vibration-induced friction reduction.

PubMed

van Spengen, W Merlijn; Turq, Viviane; Frenken, Joost W M

2010-01-01

We have replaced the periodic Prandtl-Tomlinson model with an atomic-scale friction model with a random roughness term describing the surface roughness of micro-electromechanical systems (MEMS) devices with sliding surfaces. This new model is shown to exhibit the same features as previously reported experimental MEMS friction loop data. The correlation function of the surface roughness is shown to play a critical role in the modelling. It is experimentally obtained by probing the sidewall surfaces of a MEMS device flipped upright in on-chip hinges with an AFM (atomic force microscope). The addition of a modulation term to the model allows us to also simulate the effect of vibration-induced friction reduction (normal-force modulation), as a function of both vibration amplitude and frequency. The results obtained agree very well with measurement data reported previously.

Ramp Creek and Harrodsburg Limestones: A shoaling-upward sequence with storm-produced features in southern Indiana, U.S.A.. Carbonate petrology seminar, Indiana University

NASA Astrophysics Data System (ADS)

1987-05-01

Most previously described examples of storm-produced stratification have been reported from siliciclastic rocks. However, such features should also be common in carbonate rocks. The Mississippian (Valmeyeran) Ramp Creek and Harrodsburg Limestones, deposited on the east margin of the Illinois Basin on top of the Borden Delta, contain storm-produced features. The dolomitic, geode-bearing Ramp Creek Limestone contains muddying-upward sequences, commonly with scoured bases overlain by grainstones, packstones, wackestones, and burrowed mudstones. These sequences are similar to hummocky sequences formed by storm waves below fair-weather wave base. The middle portion of the section including the upper Ramp Creek and lower Harrodsburg Limestones contains dolomitized mud lenses of uncertain origin. They may have formed by the baffling effect of bryozoans and/or unpreserved algae. The Harrodsburg is gradational with the Ramp Creek and consists predominantly of grainstones and packstones deposited in shallower water. Low-angle cross-stratification and truncation surfaces suggest a foreshore depositional environment for the Harrodsburg. Neither formation contains any indication of supratidal deposition as has been previously suggested. Open marine conditions during deposition of both formations are indicated by the fauna which includes crinoids, bryozoans, brachiopods, corals, ostracods, echinoids, trilobites, molluscs, fish (sharks), and trace fossils.

Genetic and environmental overlap between borderline personality disorder traits and psychopathy: evidence for promotive effects of factor 2 and protective effects of factor 1.

PubMed

Hunt, E; Bornovalova, M A; Patrick, C J

2015-05-01

Previous studies have reported strong genetic and environmental overlap between antisocial-externalizing (factor 2; F2) features of psychopathy and borderline personality disorder (BPD) tendencies. However, this line of research has yet to examine etiological associations of affective-interpersonal (factor 1, F1) features of psychopathy with BPD tendencies. The current study investigated differential phenotypic and genetic overlap of psychopathy factors 1 and 2 with BPD tendencies in a sample of over 250 male and female community-recruited adult twin pairs. Consistent with previous research, biometric analyses revealed strong genetic and non-shared environmental correlations of F2 with BPD tendencies, suggesting that common genetic and non-shared environmental factors contribute to both phenotypes. In contrast, negative genetic and non-shared environmental correlations were observed between F1 and BPD tendencies, indicating that the genetic factors underlying F1 serve as protective factors against BPD. No gender differences emerged in the analyses. These findings provide further insight into associations of psychopathic features - F1 as well as F2 - and BPD tendencies. Implications for treatment and intervention are discussed, along with how psychopathic traits may differentially influence the manifestation of BPD tendencies.

Bioactive natural compounds from the plant endophytic fungi Pestalotiopsis spp.

PubMed

Wang, Kuiwu; Lei, Jinxiu; Wei, Jiguang; Yao, Nan

2012-11-01

The plant-endophytic strains of the fungus Pestalotiopsis (Amphisphaeriaceae) are distributed throughout the world. Previous chemical investigation of members of the genus resulted in the discovery of various bioactive secondary metabolites including chromones, cytosporones, polyketides, terpenoids and coumarins with diverse structural features. The present report reviews the papers, which have appeared in the literature till now, concerning the isolation, structural elucidation, and biological activities of the secondary metabolites from Pestalotiopsis species.

Built-Up Area Feature Extraction: Second Year Technical Progress Report

DTIC Science & Technology

1990-02-01

Contract DACA 72-87-C-001. During this year we have built on previous research, in road network extraction and in the detection and delineation of buildings...methods to perform stereo analysis using loosely coupled techniques where comparison is deferred until each method has performed a complete estimate...or missing information. A course of action may be suggested to the user depending on the error. Although the checks do not guarantee the correctness

Promoting stair use: single versus multiple stair-riser messages.

PubMed

Webb, Oliver J; Eves, Frank F

2005-09-01

Message banners attached to stair risers produced a significant increase in pedestrian stair use, exceeding effects previously reported for conventional posters. Multiple instances of the same message banner, however, were as effective as banners featuring different messages. Therefore, greater visibility, rather than message variety, appears to account for the superiority of the banner format. Our findings indicate the feasibility of simple stair-use promotion campaigns based around the repetition of a single message.

Selection of features within and without objects: effects of gestalt appearance and object-based instruction on behavior and event-related brain potentials.

PubMed

Verleger, Rolf; Groen, Margriet; Heide, Wolfgang; Sobieralska, Kinga; Jaśkowski, Piotr

2008-05-01

We studied how physical and instructed embedding of features in gestalts affects perceptual selection. Four ovals on the horizontal midline were either unconnected or pairwise connected by circles, forming ears of left and right heads (gestalts). Relevant to responding was the position of one colored oval, either within its pair or relative to fixation ("object-based" or "fixation-based" instruction). Responses were faster under fixation- than object-based instruction, less so with gestalts. Previously reported increases of N1 when evoked by features within objects were replicated for fixation-based instruction only. There was no effect of instruction on N2pc. However P1 increased under the adequate instruction, object-based for gestalts, fixation-based for unconnected items, which presumably indicated how foci of attention were set by expecting specific stimuli under instructions that specified how to bind these stimuli to objects.

Building Data and Information Capacity in Environmental Public Health: A Best-Worst Scaling Experiment.

PubMed

Wallar, Lauren E; Sargeant, Jan M; McEwen, Scott A; Mercer, Nicola J; Papadopoulos, Andrew

Environmental public health practitioners rely on information technology (IT) to maintain and improve environmental health. However, current systems have limited capacity. A better understanding of the importance of IT features is needed to enhance data and information capacity. (1) Rank IT features according to the percentage of respondents who rated them as essential to an information management system and (2) quantify the relative importance of a subset of these features using best-worst scaling. Information technology features were initially identified from a previously published systematic review of software evaluation criteria and a list of software options from a private corporation specializing in inspection software. Duplicates and features unrelated to environmental public health were removed. The condensed list was refined by a working group of environmental public health management to a final list of 57 IT features. The essentialness of features was electronically rated by environmental public health managers. Features where 50% to 80% of respondents rated them as essential (n = 26) were subsequently evaluated using best-worst scaling. Ontario, Canada. Environmental public health professionals in local public health. Importance scores of IT features. The majority of IT features (47/57) were considered essential to an information management system by at least half of the respondents (n = 52). The highest-rated features were delivery to printer, software encryption capability, and software maintenance services. Of the 26 features evaluated in the best-worst scaling exercise, the most important features were orientation to all practice areas, off-line capability, and ability to view past inspection reports and results. The development of a single, unified environmental public health information management system that fulfills the reporting and functionality needs of system users is recommended. This system should be implemented by all public health units to support data and information capacity in local environmental public health. This study can be used to guide vendor evaluation, negotiation, and selection in local environmental public health, and provides an example of academia-practice partnerships and the use of best-worst scaling in public health research.

Parkes full polarization spectra of OH masers - II. Galactic longitudes 240° to 350°

NASA Astrophysics Data System (ADS)

Caswell, J. L.; Green, J. A.; Phillips, C. J.

2014-04-01

Full polarization measurements of 1665 and 1667 MHz OH masers at 261 sites of massive star formation have been made with the Parkes radio telescope. Here, we present the resulting spectra for 157 southern sources, complementing our previously published 104 northerly sources. For most sites, these are the first measurements of linear polarization, with good spectral resolution and complete velocity coverage. Our spectra exhibit the well-known predominance of highly circularly polarized features, interpreted as σ components of Zeeman patterns. Focusing on the generally weaker and rarer linear polarization, we found three examples of likely full Zeeman triplets (a linearly polarized π component, straddled in velocity by σ components), adding to the solitary example previously reported. We also identify 40 examples of likely isolated π components, contradicting past beliefs that π components might be extremely rare. These were recognized at 20 sites where a feature with high linear polarization on one transition is accompanied on the other transition by a matching feature, at the same velocity and also with significant linear polarization. Large velocity ranges are rare, but we find eight exceeding 25 km s-1, some of them indicating high-velocity blue-shifted outflows. Variability was investigated on time-scales of one year and over several decades. More than 20 sites (of 200) show high variability (intensity changes by factors of 4 or more) in some prominent features. Highly stable sites are extremely rare.

Recognizing Facial Slivers.

PubMed

Gilad-Gutnick, Sharon; Harmatz, Elia Samuel; Tsourides, Kleovoulos; Yovel, Galit; Sinha, Pawan

2018-07-01

We report here an unexpectedly robust ability of healthy human individuals ( n = 40) to recognize extremely distorted needle-like facial images, challenging the well-entrenched notion that veridical spatial configuration is necessary for extracting facial identity. In face identification tasks of parametrically compressed internal and external features, we found that the sum of performances on each cue falls significantly short of performance on full faces, despite the equal visual information available from both measures (with full faces essentially being a superposition of internal and external features). We hypothesize that this large deficit stems from the use of positional information about how the internal features are positioned relative to the external features. To test this, we systematically changed the relations between internal and external features and found preferential encoding of vertical but not horizontal spatial relationships in facial representations ( n = 20). Finally, we employ magnetoencephalography imaging ( n = 20) to demonstrate a close mapping between the behavioral psychometric curve and the amplitude of the M250 face familiarity, but not M170 face-sensitive evoked response field component, providing evidence that the M250 can be modulated by faces that are perceptually identifiable, irrespective of extreme distortions to the face's veridical configuration. We theorize that the tolerance to compressive distortions has evolved from the need to recognize faces across varying viewpoints. Our findings help clarify the important, but poorly defined, concept of facial configuration and also enable an association between behavioral performance and previously reported neural correlates of face perception.

Scenic drive landslide of January-March 1998, La Honda, San Mateo County, California

USGS Publications Warehouse

Jayko, Angela S.; Rymer, Michael J.; Prentice, Carol S.; Wilson, Ray C.; Wells, Ray E.

1998-01-01

The small rural town of La Honda, Calif., is an unincorporated region of San Mateo County situated in the Santa Cruz Mountains in the western part of the San Francisco peninsula. Much of the town is underlain by a previously recognized ancient landslide complex. The ancient slide complex covers about 1.0 to 1.25 km2, parts of which have been historically active. This report describes a recent landslide involving part of Scenic Drive, La Honda, that became active in January 1998. This report does not describe other currently active landslides in La Honda, such as the January 1998 slide on lower Recreation Drive, or the history of sliding in the area. This report concerns the principal morphological features we observed and mapped between 11 February and 21 March 1998 on an enlargement of a 1:7500-scale air photo acquired 6 March 1998 and prior to that on a town property-line map, and by laser survey carried out between 26 February and 8 March. The principal objective of this report is to make available the detailed photographic and topographic base maps and associated description of surface morphological features.

The Gratton effect remains after controlling for contingencies and stimulus repetitions

PubMed Central

Blais, Chris; Stefanidi, Aikaterini; Brewer, Gene A.

2014-01-01

Highlights: The conflict monitoring hypothesis signals the need for cognitive controlThe Gratton effect is a key result attributed to the conflict monitoring hypothesisSome argue that controlling binding confounds eliminates the Gratton effect A Gratton effect remains in a vocal Stroop task after eliminating confounds The Gratton effect, the observation that the size of the Stroop effect is larger following a congruent trial compared to an incongruent trial, is one pivotal observation in support of the conflict-monitoring hypothesis. Previous reports have demonstrated that non-conflict components, such as feature binding, also contribute to this effect. Critically, Schmidt and De Houwer (2011) report a flanker task and a button-press Stroop task suggesting that there is no conflict adaptation in the Gratton effect; it is entirely caused by feature binding. The current investigation attempts to replicate and extend this important finding across two experiments using a canonical four-choice Stroop task with vocal responses. In contrast to Schmidt and De Houwer, we observe reliable conflict adaptation after controlling for feature binding. We argue that the overall strength of conflict is critical for determining whether a conflict adaptation component will remain in the Gratton effect after explaining binding components. PMID:25386151

Prediction of distal residue participation in enzyme catalysis.

PubMed

Brodkin, Heather R; DeLateur, Nicholas A; Somarowthu, Srinivas; Mills, Caitlyn L; Novak, Walter R; Beuning, Penny J; Ringe, Dagmar; Ondrechen, Mary Jo

2015-05-01

A scoring method for the prediction of catalytically important residues in enzyme structures is presented and used to examine the participation of distal residues in enzyme catalysis. Scores are based on the Partial Order Optimum Likelihood (POOL) machine learning method, using computed electrostatic properties, surface geometric features, and information obtained from the phylogenetic tree as input features. Predictions of distal residue participation in catalysis are compared with experimental kinetics data from the literature on variants of the featured enzymes; some additional kinetics measurements are reported for variants of Pseudomonas putida nitrile hydratase (ppNH) and for Escherichia coli alkaline phosphatase (AP). The multilayer active sites of P. putida nitrile hydratase and of human phosphoglucose isomerase are predicted by the POOL log ZP scores, as is the single-layer active site of P. putida ketosteroid isomerase. The log ZP score cutoff utilized here results in over-prediction of distal residue involvement in E. coli alkaline phosphatase. While fewer experimental data points are available for P. putida mandelate racemase and for human carbonic anhydrase II, the POOL log ZP scores properly predict the previously reported participation of distal residues. 2015 The Authors Protein Science published by Wiley Periodicals, Inc. on behalf of The Protein Society.

Multimodal predictor of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy.

PubMed

Temko, Andriy; Doyle, Orla; Murray, Deirdre; Lightbody, Gordon; Boylan, Geraldine; Marnane, William

2015-08-01

Automated multimodal prediction of outcome in newborns with hypoxic-ischaemic encephalopathy is investigated in this work. Routine clinical measures and 1h EEG and ECG recordings 24h after birth were obtained from 38 newborns with different grades of HIE. Each newborn was reassessed at 24 months to establish their neurodevelopmental outcome. A set of multimodal features is extracted from the clinical, heart rate and EEG measures and is fed into a support vector machine classifier. The performance is reported with the statistically most unbiased leave-one-patient-out performance assessment routine. A subset of informative features, whose rankings are consistent across all patients, is identified. The best performance is obtained using a subset of 9 EEG, 2h and 1 clinical feature, leading to an area under the ROC curve of 87% and accuracy of 84% which compares favourably to the EEG-based clinical outcome prediction, previously reported on the same data. The work presents a promising step towards the use of multimodal data in building an objective decision support tool for clinical prediction of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy. Copyright © 2015 Elsevier Ltd. All rights reserved.

Dental panoramic image analysis for enhancement biomarker of mandibular condyle for osteoporosis early detection

NASA Astrophysics Data System (ADS)

Suprijanto; Azhari; Juliastuti, E.; Septyvergy, A.; Setyagar, N. P. P.

2016-03-01

Osteoporosis is a degenerative disease characterized by low Bone Mineral Density (BMD). Currently, a BMD level is determined by Dual Energy X-ray Absorptiometry (DXA) at the lumbar vertebrae and femur. Previous studies reported that dental panoramic radiography image has potential information for early osteoporosis detection. This work reported alternative scheme, that consists of the determination of the Region of Interest (ROI) the condyle mandibular in the image as biomarker and feature extraction from ROI and classification of bone conditions. The minimum value of intensity in the cavity area is used to compensate an offset on the ROI. For feature extraction, the fraction of intensity values in the ROI that represent high bone density and the ROI total area is perfomed. The classification will be evaluated from the ability of each feature and its combinations for the BMD detection in 2 classes (normal and abnormal), with the artificial neural network method. The evaluation system used 105 panoramic image data from menopause women which consist of 36 training data and 69 test data that were divided into 2 classes. The 2 classes of classification obtained 88.0% accuracy rate and 88.0% sensitivity rate.

A switch from parallel to antiparallel strand orientation in a coiled-coil X-ray structure via two core hydrophobic mutations

DOE PAGES

Malashkevich, Vladimir N.; Higgins, Chelsea D.; Almo, Steven C.; ...

2015-05-06

The coiled-coil is one of the most ubiquitous and well studied protein structural motifs. Significant effort has been devoted to dissecting subtle variations of the typical heptad repeat sequence pattern that can designate larger topological features such as relative α-helical orientation and oligomer size. Here in this paper we report the X-ray structure of a model coiled-coil peptide, HA2-Del-L2seM, which forms an unanticipated core antiparallel dimer with potential sites for discrete higher-order multimerization (trimer or tetramer). In the X-ray structure, a third, partially-ordered α-helix is weakly associated with the antiparallel dimer and analytical ultracentrifugation experiments indicate the peptide forms amore » well-defined tetramer in solution. The HA2-Del-L2seM sequence is closely related to a parent model peptide, HA2-Del, which we previously reported adopts a parallel trimer; HA2-Del-L2seM differs by only hydrophobic leucine to selenomethione mutations and thus this subtle difference is sufficient to switch both relative α-helical topology and number of α-helices participating in the coiled-coil. Comparison of the X-ray structures of HA2-Del-L2seM (reported here) with the HA2-Del parent (reported previously) reveals novel interactions involving the selenomethionine residues that promote antiparallel coiled-coil configuration and preclude parallel trimer formation. Finally, these novel atomic insights are instructive for understanding subtle features that can affect coiled-coil topology and provide additional information for design of antiparallel coiled-coils.« less

User Manual for the NASA Glenn Ice Accretion Code LEWICE. Version 2.2.2

NASA Technical Reports Server (NTRS)

Wright, William B.

2002-01-01

A research project is underway at NASA Glenn to produce a computer code which can accurately predict ice growth under a wide range of meteorological conditions for any aircraft surface. This report will present a description of the code inputs and outputs from version 2.2.2 of this code, which is called LEWICE. This version differs from release 2.0 due to the addition of advanced thermal analysis capabilities for de-icing and anti-icing applications using electrothermal heaters or bleed air applications. An extensive effort was also undertaken to compare the results against the database of electrothermal results which have been generated in the NASA Glenn Icing Research Tunnel (IRT) as was performed for the validation effort for version 2.0. This report will primarily describe the features of the software related to the use of the program. Appendix A of this report has been included to list some of the inner workings of the software or the physical models used. This information is also available in the form of several unpublished documents internal to NASA. This report is intended as a replacement for all previous user manuals of LEWICE. In addition to describing the changes and improvements made for this version, information from previous manuals may be duplicated so that the user will not need to consult previous manuals to use this code.

A clinically useful self-report measure of the DSM-5 mixed features specifier of major depressive disorder.

PubMed

Zimmerman, Mark; Chelminski, Iwona; Young, Diane; Dalrymple, Kristy; Martinez, Jennifer H

2014-10-01

To acknowledge the clinical significance of manic features in depressed patients, DSM-5 included criteria for a mixed features specifier for major depressive disorder (MDD). In the present report from the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project we modified our previously published depression scale to include a subscale assessing the DSM-5 mixed features specifier. More than 1100 psychiatric outpatients with MDD or bipolar disorder completed the Clinically Useful Depression Outcome Scale (CUDOS) supplemented with questions for the DSM-5 mixed features specifier (CUDOS-M). To examine discriminant and convergent validity the patients were rated on clinician severity indices of depression, anxiety, agitation, and irritability. Discriminant and convergent validity was further examined in a subset of patients who completed other self-report symptom severity scales. Test-retest reliability was examined in a subset who completed the CUDOS-M twice. We compared CUDOS-M scores in patients with MDD, bipolar depression, and hypomania. The CUDOS-M subscale had high internal consistency and test-retest reliability, was more highly correlated with another self-report measure of mania than with measures of depression, anxiety, substance use problems, eating disorders, and anger, and was more highly correlated with clinician severity ratings of agitation and irritability than anxiety and depression. CUDOS-M scores were significantly higher in hypomanic patients than depressed patients, and patients with bipolar depression than patients with MDD. The study was cross-sectional, thus we did not examine whether the CUDOS-M detects emerging mixed symptoms when depressed patients are followed over time. Also, while we examined the correlation between the CUDOS-M and clinician ratings of agitation and irritability, we did not examine the association with a clinician measure of manic symptomatology such as the Young Mania Rating Scale In the present study of a large sample of psychiatric outpatients, the CUDOS-M was a reliable and valid measure of the DSM-5 mixed features specifier for MDD. Copyright © 2014 Elsevier B.V. All rights reserved.

Portable automatic text classification for adverse drug reaction detection via multi-corpus training.

PubMed

Sarker, Abeed; Gonzalez, Graciela

2015-02-01

Automatic detection of adverse drug reaction (ADR) mentions from text has recently received significant interest in pharmacovigilance research. Current research focuses on various sources of text-based information, including social media-where enormous amounts of user posted data is available, which have the potential for use in pharmacovigilance if collected and filtered accurately. The aims of this study are: (i) to explore natural language processing (NLP) approaches for generating useful features from text, and utilizing them in optimized machine learning algorithms for automatic classification of ADR assertive text segments; (ii) to present two data sets that we prepared for the task of ADR detection from user posted internet data; and (iii) to investigate if combining training data from distinct corpora can improve automatic classification accuracies. One of our three data sets contains annotated sentences from clinical reports, and the two other data sets, built in-house, consist of annotated posts from social media. Our text classification approach relies on generating a large set of features, representing semantic properties (e.g., sentiment, polarity, and topic), from short text nuggets. Importantly, using our expanded feature sets, we combine training data from different corpora in attempts to boost classification accuracies. Our feature-rich classification approach performs significantly better than previously published approaches with ADR class F-scores of 0.812 (previously reported best: 0.770), 0.538 and 0.678 for the three data sets. Combining training data from multiple compatible corpora further improves the ADR F-scores for the in-house data sets to 0.597 (improvement of 5.9 units) and 0.704 (improvement of 2.6 units) respectively. Our research results indicate that using advanced NLP techniques for generating information rich features from text can significantly improve classification accuracies over existing benchmarks. Our experiments illustrate the benefits of incorporating various semantic features such as topics, concepts, sentiments, and polarities. Finally, we show that integration of information from compatible corpora can significantly improve classification performance. This form of multi-corpus training may be particularly useful in cases where data sets are heavily imbalanced (e.g., social media data), and may reduce the time and costs associated with the annotation of data in the future. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Portable Automatic Text Classification for Adverse Drug Reaction Detection via Multi-corpus Training

PubMed Central

Gonzalez, Graciela

2014-01-01

Objective Automatic detection of Adverse Drug Reaction (ADR) mentions from text has recently received significant interest in pharmacovigilance research. Current research focuses on various sources of text-based information, including social media — where enormous amounts of user posted data is available, which have the potential for use in pharmacovigilance if collected and filtered accurately. The aims of this study are: (i) to explore natural language processing approaches for generating useful features from text, and utilizing them in optimized machine learning algorithms for automatic classification of ADR assertive text segments; (ii) to present two data sets that we prepared for the task of ADR detection from user posted internet data; and (iii) to investigate if combining training data from distinct corpora can improve automatic classification accuracies. Methods One of our three data sets contains annotated sentences from clinical reports, and the two other data sets, built in-house, consist of annotated posts from social media. Our text classification approach relies on generating a large set of features, representing semantic properties (e.g., sentiment, polarity, and topic), from short text nuggets. Importantly, using our expanded feature sets, we combine training data from different corpora in attempts to boost classification accuracies. Results Our feature-rich classification approach performs significantly better than previously published approaches with ADR class F-scores of 0.812 (previously reported best: 0.770), 0.538 and 0.678 for the three data sets. Combining training data from multiple compatible corpora further improves the ADR F-scores for the in-house data sets to 0.597 (improvement of 5.9 units) and 0.704 (improvement of 2.6 units) respectively. Conclusions Our research results indicate that using advanced NLP techniques for generating information rich features from text can significantly improve classification accuracies over existing benchmarks. Our experiments illustrate the benefits of incorporating various semantic features such as topics, concepts, sentiments, and polarities. Finally, we show that integration of information from compatible corpora can significantly improve classification performance. This form of multi-corpus training may be particularly useful in cases where data sets are heavily imbalanced (e.g., social media data), and may reduce the time and costs associated with the annotation of data in the future. PMID:25451103

Searching for the 3.5 keV Line in the Stacked Suzaku Observations of Galaxy Clusters

NASA Technical Reports Server (NTRS)

Bulbul, Esra; Markevitch, Maxim; Foster, Adam; Miller, Eric; Bautz, Mark; Lowenstein, Mike; Randall, Scott W.; Smith, Randall K.

2016-01-01

We perform a detailed study of the stacked Suzaku observations of 47 galaxy clusters, spanning a redshift range of 0.01-0.45, to search for the unidentified 3.5 keV line. This sample provides an independent test for the previously detected line. We detect a 2sigma-significant spectral feature at 3.5 keV in the spectrum of the full sample. When the sample is divided into two subsamples (cool-core and non-cool core clusters), the cool-core subsample shows no statistically significant positive residuals at the line energy. A very weak (approx. 2sigma confidence) spectral feature at 3.5 keV is permitted by the data from the non-cool-core clusters sample. The upper limit on a neutrino decay mixing angle of sin(sup 2)(2theta) = 6.1 x 10(exp -11) from the full Suzaku sample is consistent with the previous detections in the stacked XMM-Newton sample of galaxy clusters (which had a higher statistical sensitivity to faint lines), M31, and Galactic center, at a 90% confidence level. However, the constraint from the present sample, which does not include the Perseus cluster, is in tension with previously reported line flux observed in the core of the Perseus cluster with XMM-Newton and Suzaku.

Morphological classification of odontogenic keratocysts using Bouligand-Minkowski fractal descriptors.

PubMed

Florindo, Joao B; Bruno, Odemir M; Landini, Gabriel

2017-02-01

The Odontogenic keratocyst (OKC) is a cystic lesion of the jaws, which has high growth and recurrence rates compared to other cysts of the jaws (for instance, radicular cyst, which is the most common jaw cyst type). For this reason OKCs are considered by some to be benign neoplasms. There exist two sub-types of OKCs (sporadic and syndromic) and the ability to discriminate between these sub-types, as well as other jaw cysts, is an important task in terms of disease diagnosis and prognosis. With the development of digital pathology, computational algorithms have become central to addressing this type of problem. Considering that only basic feature-based methods have been investigated in this problem before, we propose to use a different approach (the Bouligand-Minkowski descriptors) to assess the success rates achieved on the classification of a database of histological images of the epithelial lining of these cysts. This does not require the level of abstraction necessary to extract histologically-relevant features and therefore has the potential of being more robust than previous approaches. The descriptors were obtained by mapping pixel intensities into a three dimensional cloud of points in discrete space and applying morphological dilations with spheres of increasing radii. The descriptors were computed from the volume of the dilated set and submitted to a machine learning algorithm to classify the samples into diagnostic groups. This approach was capable of discriminating between OKCs and radicular cysts in 98% of images (100% of cases) and between the two sub-types of OKCs in 68% of images (71% of cases). These results improve over previously reported classification rates reported elsewhere and suggest that Bouligand-Minkowski descriptors are useful features to be used in histopathological images of these cysts. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Paraganglioma of the hypoglossal nerve.

PubMed

Fink, Daniel S; Benoit, Margo McKenna; Lamuraglia, Glenn M; Deschler, Daniel G

2010-01-01

To report a case of paraganglioma arising from the hypoglossal nerve and review the anatomy, clinical features, and literature to date. Case report and review of the literature. Case records including paper and electronic chart and imaging reports were reviewed and summarized for the index case. A literature search was performed using pubmed keywords paraganglioma, hypoglossal, chemodactoma, carotid body, and glomus tumor. The available literature on the topic was reviewed and summarized. Paragangliomas associated with the hypoglossal nerve were reported in 4 cases over the past 47 years. Our index case presented with similar clinical features compared to those reported in the literature. Imaging with computed tomography and angiography showed a hypervascular mass at the carotid bifurcation, splaying the internal and external carotid arteries. As in previously reported cases, the source of the paraganglioma was only identified intraoperatively. The current case differs from prior reported literature in that the tumor was dissected from the associated hypoglossal nerve which was preserved. The patient clinically had no deficits in articulation or deglutination following excision of the lesion and was able to return to a normal diet within 24 hours of surgery. Hypoglossal paraganglioma is a neck mass that may not be distinguishable from more common carotid body or vagus tumors despite the use of multiple imaging modalities. Although XIIth nerve sacrifice may be requires in some instances, nerve preserving surgery, when possible, allows for complete recovery without functional deficits.

Design a Learning-Oriented Fall Event Reporting System Based on Kirkpatrick Model.

PubMed

Zhou, Sicheng; Kang, Hong; Gong, Yang

2017-01-01

Patient fall has been a severe problem in healthcare facilities around the world due to its prevalence and cost. Routine fall prevention training programs are not as effective as expected. Using event reporting systems is the trend for reducing patient safety events such as falls, although some limitations of the systems exist at current stage. We summarized these limitations through literature review, and developed an improved web-based fall event reporting system. The Kirkpatrick model, widely used in the business area for training program evaluation, has been integrated during the design of our system. Different from traditional event reporting systems that only collect and store the reports, our system automatically annotates and analyzes the reported events, and provides users with timely knowledge support specific to the reported event. The paper illustrates the design of our system and how its features are intended to reduce patient falls by learning from previous errors.

Guided Search for Triple Conjunctions

PubMed Central

Nordfang, Maria; Wolfe, Jeremy M

2017-01-01

A key tenet of Feature Integration Theory and related theories such as Guided Search (GS) is that the binding of basic features requires attention. This would seem to predict that conjunctions of features of objects that have not been attended should not influence search. However, Found (1998) reported that an irrelevant feature (size) improved the efficiency of search for a color × orientation conjunction if it was correlated with the other two features across the display compared to the case where size was not correlated with color and orientation features. We examine this issue with somewhat different stimuli. We use triple conjunctions of color, orientation and shape (e.g. search for a red, vertical, oval-shaped item). This allows us to manipulate the number of features that each distractor shares with the target (Sharing) and it allows us to vary the total number of distractor types (and, thus, the number of groups of identical items; Grouping). We find these triple conjunction searches are generally very efficient – producing very shallow reaction time (RT) × set size slopes, consistent with strong guidance by basic features. Nevertheless, both of these variables, Sharing and Grouping modulate performance. These influences are not predicted by previous accounts of GS. However, both can be accommodated in a GS framework. Alternatively, it is possible, if not necessary, to see these effects as evidence for “preattentive binding” of conjunctions. PMID:25005070

Guided search for triple conjunctions.

PubMed

Nordfang, Maria; Wolfe, Jeremy M

2014-08-01

A key tenet of feature integration theory and of related theories such as guided search (GS) is that the binding of basic features requires attention. This would seem to predict that conjunctions of features of objects that have not been attended should not influence search. However, Found (1998) reported that an irrelevant feature (size) improved the efficiency of search for a Color × Orientation conjunction if it was correlated with the other two features across the display, as compared to the case in which size was not correlated with color and orientation features. We examined this issue with somewhat different stimuli. We used triple conjunctions of color, orientation, and shape (e.g., search for a red, vertical, oval-shaped item). This allowed us to manipulate the number of features that each distractor shared with the target (sharing) and it allowed us to vary the total number of distractor types (and, thus, the number of groups of identical items: grouping). We found that these triple conjunction searches were generally very efficient--producing very shallow Reaction Time × Set Size slopes, consistent with strong guidance by basic features. Nevertheless, both of the variables, sharing and grouping, modulated performance. These influences were not predicted by previous accounts of GS; however, both can be accommodated in a GS framework. Alternatively, it is possible, though not necessary, to see these effects as evidence for "preattentive binding" of conjunctions.

Extramedullary (EMP) relapse in unusual locations in multiple myeloma: Is there an association with precedent thalidomide administration and a correlation of special biological features with treatment and outcome?

PubMed

Katodritou, E; Gastari, V; Verrou, E; Hadjiaggelidou, C; Varthaliti, M; Georgiadou, S; Laschos, K; Xirou, P; Yiannaki, E; Constantinou, N; Markala, D; Zervas, K

2009-08-01

Extramedullary relapse constitutes an uncommon manifestation of multiple myeloma (MM), characterized by highly malignant histology, special biological features, resistance to treatment and poor outcome. Its incidence has been increased during the last years, probably due to the introduction of novel strategies in the management of MM, including intensified treatment and immunomodulatory drugs. Here we report nine cases of extramedullary relapse of MM, presented in unusual locations, seven of which had previously been treated with thalidomide-containing regimens (TCR). Our aim was to explore the morphological, immunophenotypical, molecular and laboratory characteristics accompanying EMP-relapse and seek possible correlations with treatment and clinical outcome.

Did Groundwater Processes Shape the Saharan Landscape during the Previous Wet Periods? a Remote Sensing and Geostatistical Approach

NASA Astrophysics Data System (ADS)

Farag, A. Z. A.; Sultan, M.; Elkadiri, R.; Abdelhalim, A.

2014-12-01

An integrated approach using remote sensing, landscape analysis and statistical methods was conducted to assess the role of groundwater sapping in shaping the Saharan landscape. A GIS-based logistic regression model was constructed to automatically delineate the spatial distribution of the sapping features over areas occupied by the Nubian Sandstone Aquifer System (NSAS): (1) an inventory was compiled of known locations of sapping features identified either in the field or from satellite datasets (e.g. Orbview-3 and Google Earth Digital Globe imagery); (2) spatial analyses were conducted in a GIS environment and seven geomorphological and geological predisposing factors (i.e. slope, stream density, cross-sectional and profile curvature, minimum and maximum curvature, and lithology) were identified; (3) a binary logistic regression model was constructed, optimized and validated to describe the relationship between the sapping locations and the set of controlling factors and (4) the generated model (prediction accuracy: 90.1%) was used to produce a regional sapping map over the NSAS. Model outputs indicate: (1) groundwater discharge and structural control played an important role in excavating the Saharan natural depressions as evidenced by the wide distribution of sapping features (areal extent: 1180 km2) along the fault-controlled escarpments of the Libyan Plateau; (2) proximity of mapped sapping features to reported paleolake and tufa deposits suggesting a causal effect. Our preliminary observations (from satellite imagery) and statistical analyses together with previous studies in the North Western Sahara Aquifer System (North Africa), Sinai Peninsula, Negev Desert, and The Plateau of Najd (Saudi Arabia) indicate extensive occurrence of sapping features along the escarpments bordering the northern margins of the Saharan-Arabian Desert; these areas share similar hydrologic settings with the NSAS domains and they too witnessed wet climatic periods in the Mid-Late Quaternary.

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

PubMed Central

Chograni, Manèl; Rejeb, Imen; Jemaa, Lamia Ben; Châabouni, Myriam; Bouhamed, Habiba Chaabouni

2011-01-01

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR–SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR–SNP of the exon 8 (3′-UTR) is specific to the Tunisian population. PMID:21559051

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

PubMed

Chograni, Manèl; Rejeb, Imen; Jemaa, Lamia Ben; Châabouni, Myriam; Bouhamed, Habiba Chaabouni

2011-08-01

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population.

Diffuse large B cell lymphoma of thyroid as a masquerader of anaplastic carcinoma of thyroid, diagnosed by FNA: a case report

PubMed Central

Daneshbod, Yahya; Omidvari, Shapour; Daneshbod, Khosrow; Negahban, Shahrzad; Dehghani, Mehdi

2006-01-01

Background Both thyroid lymphoma and anaplastic carcinoma of thyroid present with rapidly growing mass in eldery patients. Anaplastic carcinoma has high mortality rate and combination of surgery, radiation therapy and multidrug chemotherapy are the best chance for cure. Prognosis of thyroid lymphoma is excellent and chemotherapy for widespred lymphoms and radiotherapy with or without adjuvant chemotherapy for tumors localized to the gland, are the treatment of choice. Case report This article reports a 70 year old man presenting with diffuse neck swelling and hoarseness of few weeks duration. Fine needle aspiration was done and reported as anaplastic carcinoma of thyroid which thyroidectomy was planned. The slides were sent for second opinion. After review, with initial diagnosis of anaplastic carcinoma versus lymphoma, immunocytochemical study was performed. Smears were positive for B cell markers and negative for cytokeratin, so with the impression of diffuse large B cell lymphoma, the patient received two courses of chemotherapy by which the tumor disappeared during two weaks. Conclusion Despite previous reports, stating easy diagnosis of high-grade thyroid lymphoma on the grounds of cytomorphological features we like to emphasize, overlapping cytologic features of the curable high grade thyroid lymphoma form noncurable anaplastic thyroid carcinoma and usefulness of immunocytochemistry to differentiate these two disease. PMID:17052355

To tell or not to tell? Psychopathic traits and response integrity in youth delinquency surveys.

PubMed

Laajasalo, Taina; Aronen, Eeva T; Saukkonen, Suvi; Salmi, Venla; Aaltonen, Mikko; Kivivuori, Janne

2016-04-01

Individuals with high psychopathy scores are capable of providing valid self-reports on their own personality traits, but there have been no empirical studies of the effect of psychopathic features on responding to sensitive survey questions about specific behaviours. The aim of this study is to investigate any relationship between facets of psychopathy and participants' willingness to report antisocial acts in youth delinquency surveys, controlling for demographic variables known to be associated with response integrity. In a nationally representative sample of 4,855 Finnish mainstream adolescents aged 15-16, honesty of responding was assessed through direct response integrity questions related to violence, property crime and drug use. Psychopathy was measured with the Antisocial Process Screening Device - Self Report (APSD-SR). Callous-unemotional traits and, to a lesser degree, narcissistic features were associated with a dishonest response style, although the effect size was modest. Although psychopathy does not seem to influence the capability and willingness to report personality traits accurately, it may be associated with endorsing dishonest responses to questions about specific behaviours that have possible repercussions. Our findings suggest that previously observed associations between adolescents' self-reported delinquent behaviour and psychopathic traits may be underestimations of the strength of the effects. Copyright © 2014 John Wiley & Sons, Ltd.

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

PubMed Central

Haghighi, Amirreza; Haghighi, Alireza; Setoodeh, Aria; Saleh-Gohari, Nasrollah; Astuti, Dewi; Barrett, Timothy G

2013-01-01

Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the affected and healthy members of two families. The clinical diagnosis of WFS was confirmed by the existence of diabetes mellitus and optic atrophy in the affected patients, who in addition had severe neurodegenerative complications. Sequencing of WFS1 was undertaken in one affected member from each family. Targeted mutations were tested in all members of relevant families. Patients had most of the reported features of WFS. Two affected males in the first family had fathered unaffected children. We identified two homozygous mutations previously reported with apparently milder phenotypes: family 1: c.631G>A (p.Asp211Asn) in exon 5, and family 2: c.1456C>T (p.Gln486*) in exon 8. Heterozygous carriers were unaffected. This is the first report of male Wolfram patients who have successfully fathered children. Surprisingly, they also had almost all the complications associated with WFS. Our report has implications for genetic counseling and family planning advice for other affected families. PMID:22781099

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

PubMed

Fusco, Carmela; Micale, Lucia; Augello, Bartolomeo; Teresa Pellico, Maria; Menghini, Deny; Alfieri, Paolo; Cristina Digilio, Maria; Mandriani, Barbara; Carella, Massimo; Palumbo, Orazio; Vicari, Stefano; Merla, Giuseppe

2014-01-01

Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry ~3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of ~1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.

Prescribing patterns of psychotropic medications and clinical features in patients with major depressive disorder with and without comorbid dysthymia in China.

PubMed

Feng, Yuan; Sha, Sha; Hu, Chen; Wang, Gang; Ungvari, Gabor S; Chiu, Helen F K; Ng, Chee H; Si, Tian-Mei; Chen, Da-Fang; Fang, Yi-Ru; Lu, Zheng; Yang, Hai-Chen; Hu, Jian; Chen, Zhi-Yu; Huang, Yi; Sun, Jing; Wang, Xiao-Ping; Li, Hui-Chun; Zhang, Jin-Bei; Xiang, Yu-Tao

2017-03-01

Little has been reported about the demographic and clinical features of major depressive disorder (MDD) with comorbid dysthymia in Chinese patients. This study examined the frequency of comorbid dysthymia in Chinese MDD patients together with the demographic and clinical correlates and prescribing patterns of psychotropic drugs. Consecutively collected sample of 1178 patients with MDD were examined in 13 major psychiatric hospitals in China. Patients' demographic and clinical characteristics and psychotropic drugs prescriptions were recorded using a standardized protocol and data collection procedure. The diagnosis of dysthymia was established using the Mini International Neuropsychiatric Interview. Medications ascertained included antidepressants, antipsychotics, benzodiazepines, and mood stabilizers. One hundred and three (8.7%) patients fulfilled criteria for dysthymia. In multiple logistic regression analyses, compared to non-dysthymia counterparts, MDD patients with dysthymia had more depressive episodes with atypical features including increased appetite, sleep, and weight gain, more frequent lifetime depressive episodes, and less likelihood of family history of psychiatric disorders. There was no significant difference in the pattern of psychotropic prescription between the 2 groups. There are important differences in the demographic and clinical features of comorbid dysthymia in Chinese MDD patients compared with previous reports. The clinical profile found in this study has implications for treatment decisions. © 2016 John Wiley & Sons Australia, Ltd.

Small bowel perforation: a rare complication of ventriculoperitoneal shunt placement

PubMed Central

Bourm, Kelsey; Pfeifer, Cory; Zarchan, Adam

2016-01-01

Small bowel perforation is a rare complication of ventriculoperitoneal (VP) shunt placement. When seen, it most commonly affects the stomach or colon. We describe a case and image findings of an 8-year-old female who presented with sepsis and erosion of the VP shunt into the small bowel. The imaging findings were confirmed surgically. We also provide an overview of the current literature discussing previously reported cases, clinical features, and treatment. PMID:27761183

Acquired immunodeficiency syndrome in a patient with no known risk factors: a pathological study.

PubMed

Burt, A D; Scott, G; Shiach, C R; Isles, C G

1984-04-01

We present the pathological findings in a case of acquired immunodeficiency syndrome (AIDS) in a patient with no known risk factor. Postmortem examination showed klebsiella lung abscess, generalised cytomegalovirus infection, cerebral toxoplasmosis, and a primary cerebral lymphoma. An additional feature was the presence of dilatation of the intrahepatic large bile ducts in association with an atypical distribution of cytomegalovirus. The relation between this case and previously reported cases of AIDS is discussed.

Toward a Superior Promotion System

DTIC Science & Technology

2012-08-01

AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK NUMBER 5f. WORK UNIT NUMBER 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Air Force Research Institute (AFRI...Air & Space Power Journal,155 N Twining Street,Maxwell AFB,AL,36112 8. PERFORMING ORGANIZATION REPORT NUMBER 9. SPONSORING/MONITORING AGENCY NAME...this lan­ guage might have arisen to remedy a problem in this or previous evalua­ tion systems and has continued to exist as a vestigial feature. The

Vulvar lymphangioma circumscriptum: a rare complication of therapy for squamous cell carcinoma of the cervix

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

LaPolla, J.; Foucar, E.; Leshin, B.

1985-11-01

The clinical and pathological features of a case of multifocal lymphangioma circumscriptum of the vulva are reported in a patient with chronic lymphedema of a lower extremity. Ten years previously the patient had been treated for squamous cell carcinoma of the cervix. Although lymphangioma circumscriptum is an extremely rare complication of altered lymphatic drainage, the presence of multiple noninflammatory vesicular appearing lesions in this setting should suggest the correct diagnosis.

Mechanisms of value-learning in the guidance of spatial attention.

PubMed

Anderson, Brian A; Kim, Haena

2018-05-11

The role of associative reward learning in the guidance of feature-based attention is well established. The extent to which reward learning can modulate spatial attention has been much more controversial. At least one demonstration of a persistent spatial attention bias following space-based associative reward learning has been reported. At the same time, multiple other experiments have been published failing to demonstrate enduring attentional biases towards locations at which a target, if found, yields high reward. This is in spite of evidence that participants use reward structures to inform their decisions where to search, leading some to suggest that, unlike feature-based attention, spatial attention may be impervious to the influence of learning from reward structures. Here, we demonstrate a robust bias towards regions of a scene that participants were previously rewarded for selecting. This spatial bias relies on representations that are anchored to the configuration of objects within a scene. The observed bias appears to be driven specifically by reinforcement learning, and can be observed with equal strength following non-reward corrective feedback. The time course of the bias is consistent with a transient shift of attention, rather than a strategic search pattern, and is evident in eye movement patterns during free viewing. Taken together, our findings reconcile previously conflicting reports and offer an integrative account of how learning from feedback shapes the spatial attention system. Copyright © 2018 Elsevier B.V. All rights reserved.

Hilar cholangiocarcinoma with intratumoral calcification: A case report.

PubMed

Inoko, Kazuho; Tsuchikawa, Takahiro; Noji, Takehiro; Kurashima, Yo; Ebihara, Yuma; Tamoto, Eiji; Nakamura, Toru; Murakami, Soichi; Okamura, Keisuke; Shichinohe, Toshiaki; Hirano, Satoshi

2015-10-14

This report describes a rare case of hilar cholangiocarcinoma with intratumoral calcification that mimicked hepatolithiasis. A 73-year-old man presented to a local hospital with a calcified lesion in the hepatic hilum. At first, hepatolithiasis was diagnosed, and he underwent endoscopic stone extraction via the trans-papillary route. This treatment strategy failed due to biliary stricture. He was referred to our hospital, and further examination suggested the existence of cholangiocarcinoma. He underwent left hepatectomy with caudate lobectomy and extrahepatic bile duct resection. Pathological examination revealed hilar cholangiocarcinoma with intratumoral calcification, while no stones were found. To the best of our knowledge, only one case of calcified hilar cholangiocarcinoma has been previously reported in the literature. Here, we report a rare case of calcified hilar cholangiocarcinoma and reveal its clinicopathologic features.

Exposures to traditional automatic dishwashing tablets and a comparison with exposures to soluble film tablets reported to the United Kingdom National Poisons Information Service 2008-2015.

PubMed

Day, Rachael; Eddleston, Michael; Thomas, Simon H L; Thompson, John P; Vale, J Allister

2017-03-01

Traditional automatic dishwashing tablets are contained within an external wrapper that requires removal prior to use. To determine the toxicity of traditional tablets and to compare this with our previously reported experience of soluble film dishwashing tablets. Telephone enquiries regarding traditional tablets were analysed retrospectively for the period January 2008 to December 2015. Traditional tablets: There were 503 enquiries relating to 492 patients who had been exposed to a traditional tablet. Most involved children aged 5 years or less (87.4%). The majority (78.6%) of patients did not develop symptoms after exposure; 21.1% developed minor (PSS 1) symptoms while one patient developed moderate features. Exposure occurred predominantly as a result of ingestion (n = 476, 96.7%); the most common feature in symptomatic patients (n = 99, 20.8%) was vomiting (70 [14.7%] cases). Significantly (p < 0.0001) more adults (44.9% of 49 adults; 95% CI = 31.9-58.7) were reported with features than children (18.2% of 434; 95% CI = 14.9-22.1). There were five cases of eye contact which resulted in eye pain in two patients and eye irritation in another. Only one of 11 patients exposed dermally developed features (a rash around the mouth). Comparison with soluble film exposures: The percentage of patients that were reported with clinical symptoms following ingestion of a soluble film dishwashing tablet (31.7% of 473 patients; 95% CI = 27.7-36.0) was significantly greater (p < 0.0001) than that for a traditional tablet (20.9% of 483 patients; 95% CI = 17.5-24.8). Vomiting was the most commonly reported feature and occurred significantly (p < 0.0001) more frequently amongst patients who had ingested a soluble film tablet (25.5%; 95% CI = 21.8-29.6) than a traditional tablet (14.7%; 95% CI = 11.8-18.1). Exposure to both traditional and soluble film tablets only rarely produced clinically significant symptoms (PSS ≥2). However, ingestion of a soluble film tablet was significantly more likely to result in clinical features than ingestion of a traditional tablet.

Optic Nerve Lymphoma. Report of Two Cases and Review of the Literature

PubMed Central

Kim, Jennifer L.; Mendoza, Pia; Rashid, Alia; Hayek, Brent; Grossniklaus, Hans E.

2014-01-01

Lymphoma may involve the optic nerve as isolated optic nerve lymphoma or in association with CNS or systemic lymphoma. We present two biopsy-proven non-Hodgkin lymphomas of the optic nerve and compare our findings with previously reported cases. We discuss the mechanism of metastasis, classification of optic nerve involvement, clinical features, radiologic findings, optic nerve biopsy indications and techniques, histologic features, and treatments. We propose a classification system of optic nerve lymphoma: isolated optic nerve involvement, optic nerve involvement with CNS disease, optic nerve involvement with systemic disease, and optic nerve involvement with primary intraocular lymphoma. Although it is an uncommon cause of infiltrative optic neuropathy, optic nerve metastasis should be considered in patients with a history of lymphoma. The recommended approach to a patient with presumed optic nerve lymphoma includes neuroimaging, and cerebrospinal fluid evaluation as part of the initial work-up, then judicious use of optic nerve biopsy, depending on the clinical situation. PMID:25595061

Building a profile of subjective well-being for social media users.

PubMed

Chen, Lushi; Gong, Tao; Kosinski, Michal; Stillwell, David; Davidson, Robert L

2017-01-01

Subjective well-being includes 'affect' and 'satisfaction with life' (SWL). This study proposes a unified approach to construct a profile of subjective well-being based on social media language in Facebook status updates. We apply sentiment analysis to generate users' affect scores, and train a random forest model to predict SWL using affect scores and other language features of the status updates. Results show that: the computer-selected features resemble the key predictors of SWL as identified in early studies; the machine-predicted SWL is moderately correlated with the self-reported SWL (r = 0.36, p < 0.01), indicating that language-based assessment can constitute valid SWL measures; the machine-assessed affect scores resemble those reported in a previous experimental study; and the machine-predicted subjective well-being profile can also reflect other psychological traits like depression (r = 0.24, p < 0.01). This study provides important insights for psychological prediction using multiple, machine-assessed components and longitudinal or dense psychological assessment using social media language.

Building a profile of subjective well-being for social media users

PubMed Central

Kosinski, Michal; Stillwell, David; Davidson, Robert L.

2017-01-01

Subjective well-being includes ‘affect’ and ‘satisfaction with life’ (SWL). This study proposes a unified approach to construct a profile of subjective well-being based on social media language in Facebook status updates. We apply sentiment analysis to generate users’ affect scores, and train a random forest model to predict SWL using affect scores and other language features of the status updates. Results show that: the computer-selected features resemble the key predictors of SWL as identified in early studies; the machine-predicted SWL is moderately correlated with the self-reported SWL (r = 0.36, p < 0.01), indicating that language-based assessment can constitute valid SWL measures; the machine-assessed affect scores resemble those reported in a previous experimental study; and the machine-predicted subjective well-being profile can also reflect other psychological traits like depression (r = 0.24, p < 0.01). This study provides important insights for psychological prediction using multiple, machine-assessed components and longitudinal or dense psychological assessment using social media language. PMID:29135991

Park Use in Low-Income Urban Neighborhoods: Who Uses the Parks and Why?

PubMed

Vaughan, Christine A; Colabianchi, Natalie; Hunter, Gerald P; Beckman, Robin; Dubowitz, Tamara

2018-04-01

We examined individual and environmental influences on park use among residents of two low-income predominantly African American neighborhoods to identify determinants of park use in lower-income urban neighborhoods. We analyzed data from interviews of 1003 individuals randomly selected from the neighborhoods, systematic observations of neighborhood parks, and police-recorded crime incidence within a .5-mi buffer around each park. Most participants (82.4%) had previously visited a neighborhood park, and nearly half (46.2%) had visited one in the past month. However, only 8.5% of participants were aware of their closest park. Compared with the parks closest to home, parks that participants reported visiting most were larger and had more amenities and features and fewer incivilities and reported crimes of a serious nature. Park use among residents of lower-income neighborhoods may be increased by offering more amenities and features and ensuring the presence of a well-appointed park within easy walking distance of residents' homes.

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.

PubMed

Bassett, J K; Chandler, K E; Douzgou, S

2016-08-01

Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms. Hyperphagia and childhood obesity is widely reported in Prader-Willi Syndrome (PWS) but there is only one previous report of this presentation in chromosome 22q11.2 deletion syndrome. We describe two further cases of chromosome 22q11.2 deletion syndrome in which hyperphagia and childhood obesity were the presenting features. This may be a manifestation of obsessive behaviour secondary to some of the psychiatric features commonly seen in chromosome 22q11.2 deletion syndrome. Serious complications may result from hyperphagia and childhood obesity therefore early recognition and intervention is crucial. Due to the similar clinical presentation of these two patients to patients with PWS, it is suggested that the hyperphagia seen here should be managed in a similar way to how it is managed in PWS. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Psychosocial short stature with psychosis: a case report.

PubMed

Wattchow, Naomi; Lee, Hsu-En; Brock, Philip

2015-02-01

Our objective was to report and describe a case of psychosocial short stature in an adolescent girl with psychotic features. Psychosocial short stature is a rare condition in which emotional stress or deprivation in childhood profoundly reduces growth, leading to persistent short stature. This disorder is variably known as psychosocial dwarfism, hyperphagic short stature or maternal deprivation dwarfism. In the literature, psychosocial short stature has not been associated previously with psychosis. We formulate that our patient's short stature, developmental regression and psychotic features were culminations of insecure mother-child attachment, personal traumatic experiences, immigrant status, high family expressed emotions and social isolation. Neuropsychiatric influences were critically regarded due to our patient's fluctuations in behaviour and affect, in the setting of cortical volume loss on brain MRI. Diagnostic hypotheses included childhood disintegrative disorder or childhood-onset schizophrenia. The management plan involved inpatient family psychoeducation, a pharmacological trial with an atypical antipsychotic and community mental health service follow-up for family therapy and psychotherapy. © The Royal Australian and New Zealand College of Psychiatrists 2014.

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

PubMed

Brunetti-Pierri, Nicola; Del Gaudio, Daniela; Peters, Hartmut; Justino, Henri; Ott, Claus-Eric; Mundlos, Stefan; Bacino, Carlos A

2008-11-01

Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome. Copyright 2008 Wiley-Liss, Inc.

Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability.

PubMed

Isidor, Bertrand; David, Albert

2015-01-01

Here, we report two unrelated girls with prenatal onset short stature, short neck, cervical vertebral anomalies, Sprengel deformity, and mild intellectual disability. The association of these features first suggested a syndromic form of Klippel-Feil anomaly. We therefore analyzed the three known disease causing genes and the candidate gene PAX1. However, direct sequencing of GDF6, GDF3, PAX1, and MEOX1 failed to identify any mutation. To our knowledge, the phenotype we report has not been described previously, leading us to speculate that this condition may represent a new syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Hypertriglyceridemia thalassemia syndrome.

PubMed

Jain, Mili; Ali, Wahid; Singh, Brijendra Bahadur; Verma, Nishant; Kumar, Ashutosh

2018-06-14

Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

Actinomyces turicensis Bacteremia Secondary to Pyometra.

PubMed

Hagiya, Hideharu; Ogawa, Hiroko; Takahashi, Yusuke; Kimura, Kosuke; Hasegawa, Kan; Otsuka, Fumio

2015-01-01

We herein present a rare case of Actinomyces turicensis bacteremia that was caused by pyometra. The patient was successfully treated with transvaginal drainage and antibiotic therapy. A literature review in MEDLINE showed that there have been only 8 previously reported cases of A. turicensis bacteremia. This infection frequently occurs in patients with visceral abscesses, and blood culture examinations usually reveal a polymicrobial pattern. However, the prognosis of such patients has been reported to generally be benign. Due to difficulties in performing bacterial identification and the wide-spectrum clinical pictures associated with this bacteremia, no comprehensive understanding of the clinical features of each Actinomyces species has yet been established.

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).

PubMed Central

Delicado, A; Escribano, E; Lopez Pajares, I; Diaz de Bustamante, A; Carrasco, S

1991-01-01

We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed. Images PMID:2002483

Breast fibromatosis associated with breast implants.

PubMed

Seo, Yoon Nae; Park, Young Mi; Yoon, Hye Kyoung; Lee, Sun Joo; Choo, Hye Jung; Ryu, Ji Hwa

2015-09-01

Fibromatosis refers to an extra-abdominal desmoid tumor or aggressive fibromatosis. Breast fibromatosis can develop in association with the capsule around a breast implant, although reports of cases of fibromatosis associated with breast implants are rare. As the demand for breast augmentation has increased, it is important to understand the diseases associated with breast implants. In the present report, we describe a case of breast fibromatosis that developed adjacent to a breast implant and demonstrated a relatively well-defined border even though it invaded the surrounding structures. We also explore the specific imaging features for diagnosing breast fibromatosis in association with implants by reviewing previous literature.

[A disseminated form of Langerhans histiocytosis associated with diabetes insipidus and diabetes mellitus].

PubMed

Ben Ghorbel, I; Houman, M H; B'chir, S; Chamakhi, S; Miled, M

2001-05-01

Langerhans' cell histiocytosis is a rare disorder of unknown etiology characterized by a wide clinical spectrum and varied behavior. Diabetes insipidus is a relatively common feature in Langerhans' cell histiocytosis. The presence of both diabetes insipidus and mellitus associated with histiocytosis in an adult is rare. To our knowledge, only three previous cases have been reported. We report the clinical presentation, pathologic findings and clinical progress in an adult female who had disseminated Langerhans' cell histiocytosis (hypothalamic infiltration, multifocal bone involvement) associated with both diabetes insipidus and mellitus. The pathogenesis of diabetes mellitus in such an association will be discussed.

An experimental study of a turbulent boundary layer in the trailing edge region of a circulation-control airfoil

NASA Technical Reports Server (NTRS)

Heinemann, K.; Brown, Jeff

1992-01-01

This report discusses progress made on NASA Cooperative Agreement NCC2-545, 'An Experimental Study of a Turbulent Boundary Layer in the Trailing-Edge Region of a Circulation-Control Airfoil' during the period 9/1/91 through 9/30/92. The study features 2-component laser Doppler velocimeter (LDV) measurements in the trailing edge and wake regions of a generic 2-dimensional circulation-control model. The final experimental phase of the study will be carried out in the Ames High Reynolds Number Channel 2 (HRC2) transonic blow-down-facility. During the 13-month period covered by this report, work continued on the development of the near-wall laser Doppler velocimeter (LDV) described in previous reports.

The mental representation of living and nonliving things: differential weighting and interactivity of sensorial and non-sensorial features.

PubMed

Ventura, Paulo; Morais, José; Brito-Mendes, Carlos; Kolinsky, Régine

2005-02-01

Warrington and colleagues (Warrington & McCarthy, 1983, 1987; Warrington & Shallice, 1984) claimed that sensorial and functional-associative (FA) features are differentially important in determining the meaning of living things (LT) and nonliving things (NLT). The first aim of the present study was to evaluate this hypothesis through two different access tasks: feature generation (Experiment 1) and cued recall (Experiment 2). The results of both experiments provided consistent empirical support for Warrington and colleagues' assumption. The second aim of the present study was to test a new differential interactivity hypothesis that combines Warrington and colleagueS' assumption with the notion of a higher number of intercorrelations and hence of a stronger connectivity between sensorial and non-sensorial features for LTs than for NLTs. This hypothesis was motivated by previoUs reports of an uncrossed interaction between domain (LTs vs NLTs) and attribute type (sensorial vs FA) in, for example, a feature verification task (Laws, Humber, Ramsey, & McCarthy, 1995): while FA attributes are verified faster than sensorial attributes for NLTs, no difference is observed for LTs. We replicated and generalised this finding using several feature verification tasks on both written words and pictures (Experiment 3), including in conditions aimed at minimising the intervention of priming biases and strategic or mnemonic processes (Experiment 4). The whole set of results suggests that both privileged relations between features and categories, and the differential importance of intercorrelations between features as a function of category, modulate access to semantic features.

Simulation of synthetic gecko arrays shearing on rough surfaces

PubMed Central

Gillies, Andrew G.; Fearing, Ronald S.

2014-01-01

To better understand the role of surface roughness and tip geometry in the adhesion of gecko synthetic adhesives, a model is developed that attempts to uncover the relationship between surface feature size and the adhesive terminal feature shape. This model is the first to predict the adhesive behaviour of a plurality of hairs acting in shear on simulated rough surfaces using analytically derived contact models. The models showed that the nanoscale geometry of the tip shape alters the macroscale adhesion of the array of fibres by nearly an order of magnitude, and that on sinusoidal surfaces with amplitudes much larger than the nanoscale features, spatula-shaped features can increase adhesive forces by 2.5 times on smooth surfaces and 10 times on rough surfaces. Interestingly, the summation of the fibres acting in concert shows behaviour much more complex that what could be predicted with the pull-off model of a single fibre. Both the Johnson–Kendall–Roberts and Kendall peel models can explain the experimentally observed frictional adhesion effect previously described in the literature. Similar to experimental results recently reported on the macroscale features of the gecko adhesive system, adhesion drops dramatically when surface roughness exceeds the size and spacing of the adhesive fibrillar features. PMID:24694893

Diagnosis and management of dementia with Lewy bodies

PubMed Central

Boeve, Bradley F.; Dickson, Dennis W.; Halliday, Glenda; Taylor, John-Paul; Weintraub, Daniel; Aarsland, Dag; Galvin, James; Attems, Johannes; Ballard, Clive G.; Bayston, Ashley; Beach, Thomas G.; Blanc, Frédéric; Bohnen, Nicolaas; Bonanni, Laura; Bras, Jose; Brundin, Patrik; Burn, David; Chen-Plotkin, Alice; Duda, John E.; El-Agnaf, Omar; Feldman, Howard; Ferman, Tanis J.; ffytche, Dominic; Fujishiro, Hiroshige; Galasko, Douglas; Goldman, Jennifer G.; Gomperts, Stephen N.; Graff-Radford, Neill R.; Honig, Lawrence S.; Iranzo, Alex; Kantarci, Kejal; Kaufer, Daniel; Kukull, Walter; Lee, Virginia M.Y.; Leverenz, James B.; Lewis, Simon; Lippa, Carol; Lunde, Angela; Masellis, Mario; Masliah, Eliezer; McLean, Pamela; Mollenhauer, Brit; Montine, Thomas J.; Moreno, Emilio; Mori, Etsuro; Murray, Melissa; O'Brien, John T.; Orimo, Sotoshi; Postuma, Ronald B.; Ramaswamy, Shankar; Ross, Owen A.; Salmon, David P.; Singleton, Andrew; Taylor, Angela; Thomas, Alan; Tiraboschi, Pietro; Toledo, Jon B.; Trojanowski, John Q.; Tsuang, Debby; Walker, Zuzana; Yamada, Masahito; Kosaka, Kenji

2017-01-01

The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for the last decade. The revised DLB consensus criteria now distinguish clearly between clinical features and diagnostic biomarkers, and give guidance about optimal methods to establish and interpret these. Substantial new information has been incorporated about previously reported aspects of DLB, with increased diagnostic weighting given to REM sleep behavior disorder and 123iodine-metaiodobenzylguanidine (MIBG) myocardial scintigraphy. The diagnostic role of other neuroimaging, electrophysiologic, and laboratory investigations is also described. Minor modifications to pathologic methods and criteria are recommended to take account of Alzheimer disease neuropathologic change, to add previously omitted Lewy-related pathology categories, and to include assessments for substantia nigra neuronal loss. Recommendations about clinical management are largely based upon expert opinion since randomized controlled trials in DLB are few. Substantial progress has been made since the previous report in the detection and recognition of DLB as a common and important clinical disorder. During that period it has been incorporated into DSM-5, as major neurocognitive disorder with Lewy bodies. There remains a pressing need to understand the underlying neurobiology and pathophysiology of DLB, to develop and deliver clinical trials with both symptomatic and disease-modifying agents, and to help patients and carers worldwide to inform themselves about the disease, its prognosis, best available treatments, ongoing research, and how to get adequate support. PMID:28592453

Geomorphic investigation of craters in Alba Mons, Mars: Implications for Late Amazonian glacial activity in the region

NASA Astrophysics Data System (ADS)

Sinha, Rishitosh K.; Vijayan, S.

2017-09-01

Evidence for mid-high latitude glacial episodes existing within the Late Amazonian history of Mars has been reported from analysis of variety of glacial/periglacial landforms and their stratigraphic relationships. In this study, using the Context Camera (CTX) images, we have surveyed the interior of craters within the Alba Mons region of Mars (30°-60°N; 80°-140°W) to decipher the presence of ice-related flow features. The primary goals of this study are to (1) suggest from observations that the flow features identified in the interior of Alba Mons craters have flow characteristic possibly different from concentric crater fill (CCF) landforms and (2) interpret the extent of glacial activity that led to formation of flow features with respect to previously described mid-latitude ice-related landforms. Our geomorphic investigation revealed evidence for the presence of tongue-like or lobate shaped ice-related flow feature from the interior of ∼346 craters in the study region. The presence of ring-mold crater morphologies and brain-terrain texture preserved on the surface of flow features suggests that they are possibly formed of near-surface ice-rich bodies. We found that these flow features tend to form inside both the smaller (<5 km) and larger (>5 km) diameter craters emplaced at a wide range of elevation (from ∼ -3.3 km to 6.1 km). The measurement of overall length and flow direction of flow features is suggestive that they are similar to pole-facing small-scale lobate debris apron (LDA) formed inside craters. Crater size-frequency distribution of these small-scale LDAs reveals a model age of ∼10-100 Ma. Together with topographic and geomorphic observations, orientation measurements, and distribution within the study region, we suggest that the flow features (identified as pole-facing small-scale LDAs in the interior of craters) have flow characteristic possibly different from CCF landforms. Our observations and findings support the results of previous analyses that suggests Mars to have preserved records of multiple debris-covered glacial episodes occurred in the Late Amazonian.

Giant fibroadenomatoid hyperplasia of the breast: a case report.

PubMed

Zhang, Hao; Wang, Xin-Lu; Ren, Wei-Dong; Shi, Tie-Mei

2014-01-01

Fibroadenomatoid hyperplasia of the breast (FAHB) is a rare benign breast lesion and its clinical features are similar to fibroadenoma and fibrocystic changes. FAHB has been previously termed sclerosing lobular hyperplasia, fibroadenomatosis, fibroadenomatoid change, or fibroadenomatoid mastopathy. Typically, FAHB is derived from stroma and epithelia. The pathologic characteristics of FAHB are microfocal lobulocentric proliferation of stroma accompanied by epithelial and myoepithelial components resembling similar histological changes, as found in fibroadenoma, apocrine hyperplasia, intraductal hyperplasia, and lobular hyperplasia. FAHB could be present as a localized or diffused pattern in pathology. Most cases show no well-circumscribed mass lesions and no apparent capsules; it is usually identified as an incidental finding in other benign lesions or in random sampling in cancerous breast tissues. FAHB is categorized as a benign proliferative breast disease and it has previously been reported; however, the authors believe this study may be the first case with two giant masses reported. Fiber adenoma hyperplasia is a rare cystic hyperplasia of breast pathology and its ultrasonographic manifestations are easily confused with breast cancer. Comparative MRI ultrasound analysis will help make the differential diagnosis. © 2014 S. Karger AG, Basel.

Guillain-Barré syndrome presenting with Raynaud's phenomenon: a case report.

PubMed

Gunatilake, Sonali Sihindi Chapa; Wimalaratna, Harith

2014-09-03

Guillain-Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain-Barré syndrome. Raynaud's phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain-Barré syndrome up to date. We report the first case of Guillain-Barré syndrome presenting with Raynaud's phenomenon in a 21-year-old previously well boy. New onset Raynaud's phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud's phenomenon and autonomic disturbances. Guillain-Barré syndrome presenting with Raynaud's phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud's phenomenon should prompt the physician to consider Guillain-Barré syndrome with a complimentary clinical picture.

Charge exchange in galaxy clusters

NASA Astrophysics Data System (ADS)

Gu, Liyi; Mao, Junjie; de Plaa, Jelle; Raassen, A. J. J.; Shah, Chintan; Kaastra, Jelle S.

2018-03-01

Context. Though theoretically expected, the charge exchange emission from galaxy clusters has never been confidently detected. Accumulating hints were reported recently, including a rather marginal detection with the Hitomi data of the Perseus cluster. As previously suggested, a detection of charge exchange line emission from galaxy clusters would not only impact the interpretation of the newly discovered 3.5 keV line, but also open up a new research topic on the interaction between hot and cold matter in clusters. Aim. We aim to perform the most systematic search for the O VIII charge exchange line in cluster spectra using the RGS on board XMM-Newton. Methods: We introduce a sample of 21 clusters observed with the RGS. In order to search for O VIII charge exchange, the sample selection criterion is a >35σ detection of the O VIII Lyα line in the archival RGS spectra. The dominating thermal plasma emission is modeled and subtracted with a two-temperature thermal component, and the residuals are stacked for the line search. The systematic uncertainties in the fits are quantified by refitting the spectra with a varying continuum and line broadening. Results: By the residual stacking, we do find a hint of a line-like feature at 14.82 Å, the characteristic wavelength expected for oxygen charge exchange. This feature has a marginal significance of 2.8σ, and the average equivalent width is 2.5 × 10-4 keV. We further demonstrate that the putative feature can be barely affected by the systematic errors from continuum modeling and instrumental effects, or the atomic uncertainties of the neighboring thermal lines. Conclusions: Assuming a realistic temperature and abundance pattern, the physical model implied by the possible oxygen line agrees well with the theoretical model proposed previously to explain the reported 3.5 keV line. If the charge exchange source indeed exists, we expect that the oxygen abundance could have been overestimated by 8-22% in previous X-ray measurements that assumed pure thermal lines. These new RGS results bring us one step forward to understanding the charge exchange phenomenon in galaxy clusters.

Inattention in primary school is not good for your future school achievement—A pattern classification study

PubMed Central

Bøe, Tormod; Lundervold, Arvid

2017-01-01

Inattention in childhood is associated with academic problems later in life. The contribution of specific aspects of inattentive behaviour is, however, less known. We investigated feature importance of primary school teachers’ reports on nine aspects of inattentive behaviour, gender and age in predicting future academic achievement. Primary school teachers of n = 2491 children (7–9 years) rated nine items reflecting different aspects of inattentive behaviour in 2002. A mean academic achievement score from the previous semester in high school (2012) was available for each youth from an official school register. All scores were at a categorical level. Feature importances were assessed by using multinominal logistic regression, classification and regression trees analysis, and a random forest algorithm. Finally, a comprehensive pattern classification procedure using k-fold cross-validation was implemented. Overall, inattention was rated as more severe in boys, who also obtained lower academic achievement scores in high school than girls. Problems related to sustained attention and distractibility were together with age and gender defined as the most important features to predict future achievement scores. Using these four features as input to a collection of classifiers employing k-fold cross-validation for prediction of academic achievement level, we obtained classification accuracy, precision and recall that were clearly better than chance levels. Primary school teachers’ reports of problems related to sustained attention and distractibility were identified as the two most important features of inattentive behaviour predicting academic achievement in high school. Identification and follow-up procedures of primary school children showing these characteristics should be prioritised to prevent future academic failure. PMID:29182663

Inattention in primary school is not good for your future school achievement-A pattern classification study.

PubMed

Lundervold, Astri J; Bøe, Tormod; Lundervold, Arvid

2017-01-01

Inattention in childhood is associated with academic problems later in life. The contribution of specific aspects of inattentive behaviour is, however, less known. We investigated feature importance of primary school teachers' reports on nine aspects of inattentive behaviour, gender and age in predicting future academic achievement. Primary school teachers of n = 2491 children (7-9 years) rated nine items reflecting different aspects of inattentive behaviour in 2002. A mean academic achievement score from the previous semester in high school (2012) was available for each youth from an official school register. All scores were at a categorical level. Feature importances were assessed by using multinominal logistic regression, classification and regression trees analysis, and a random forest algorithm. Finally, a comprehensive pattern classification procedure using k-fold cross-validation was implemented. Overall, inattention was rated as more severe in boys, who also obtained lower academic achievement scores in high school than girls. Problems related to sustained attention and distractibility were together with age and gender defined as the most important features to predict future achievement scores. Using these four features as input to a collection of classifiers employing k-fold cross-validation for prediction of academic achievement level, we obtained classification accuracy, precision and recall that were clearly better than chance levels. Primary school teachers' reports of problems related to sustained attention and distractibility were identified as the two most important features of inattentive behaviour predicting academic achievement in high school. Identification and follow-up procedures of primary school children showing these characteristics should be prioritised to prevent future academic failure.

Comparing ensemble learning methods based on decision tree classifiers for protein fold recognition.

PubMed

Bardsiri, Mahshid Khatibi; Eftekhari, Mahdi

2014-01-01

In this paper, some methods for ensemble learning of protein fold recognition based on a decision tree (DT) are compared and contrasted against each other over three datasets taken from the literature. According to previously reported studies, the features of the datasets are divided into some groups. Then, for each of these groups, three ensemble classifiers, namely, random forest, rotation forest and AdaBoost.M1 are employed. Also, some fusion methods are introduced for combining the ensemble classifiers obtained in the previous step. After this step, three classifiers are produced based on the combination of classifiers of types random forest, rotation forest and AdaBoost.M1. Finally, the three different classifiers achieved are combined to make an overall classifier. Experimental results show that the overall classifier obtained by the genetic algorithm (GA) weighting fusion method, is the best one in comparison to previously applied methods in terms of classification accuracy.

Prediction of new ground-state crystal structure of T a2O5

NASA Astrophysics Data System (ADS)

Yang, Yong; Kawazoe, Yoshiyuki

2018-03-01

Tantalum pentoxide (T a2O5 ) is a wide-gap semiconductor which has important technological applications. Despite the enormous efforts from both experimental and theoretical studies, the ground-state crystal structure of T a2O5 is not yet uniquely determined. Based on first-principles calculations in combination with evolutionary algorithm, we identify a triclinic phase of T a2O5 , which is energetically much more stable than any phases or structural models reported previously. Characterization of the static and dynamical properties of the phase reveals the common features shared with previous metastable phases of T a2O5 . In particular, we show that the d spacing of ˜3.8 Å found in the x-ray diffraction patterns of many previous experimental works is actually the radius of the second Ta-Ta coordination shell as defined by radial distribution functions.

Overactive lifestyle in patients with fibromyalgia as a core feature of bipolar spectrum disorder.

PubMed

Alciati, Alessandra; Sarzi-Puttini, Piercarlo; Batticciotto, Alberto; Torta, Riccardo; Gesuele, Felice; Atzeni, Fabiola; Angst, Jules

2012-01-01

To test the hypothesis that the premorbid overactivity previously described in subjects with fibromyalgia is a core feature of the manic/hypomanic symptoms characterising bipolar spectrum disorders. 110 consecutive patients with fibromyalgia were assessed for bipolar spectrum disorders using both categorical and dimensional approaches. The first was based on a version of the DSM-IV SCID-CV interview, modified to improve the detection of bipolar spectrum disorders, the second on the hypomania symptom checklist HCL-32, which adopts a dimensional perspective of the manic/hypomanic component of mood by including sub-syndromal hypomania. Both DSM-IV and Zurich criteria diagnosed high rates of bipolar spectrum disorder in patients with fibromyalgia (70% and 86.3%, respectively). Individuals with a major bipolar spectrum disorder (bipolar II disorder) and with a minor bipolar spectrum disorder (subthreshold depression and hypomania) did not differ in their demographic and clinical aspects. Hypomanic symptom counts on the HCL-32 confirmed high estimates of the bipolar spectrum, with 79% of subjects with fibromyalgia scoring 14 (threshold for hypomania) or above. Overactivity reported in previous studies may be considered a core feature of hypomanic symptoms or syndromes comorbid with bipolar spectrum disorders. Major and minor bipolar spectrum disorders are not associated with differences in demographic or clinical characteristics, suggesting that fibromyalgia rather than being related specifically to depression is related to bipolar spectrum disorders and in particular to the hypomania/overactivity component.

POLYPOIDAL CHOROIDAL VASCULOPATHY SECONDARY TO A STABLE CHOROIDAL NEVUS.

PubMed

Wong, James G; Lai, Xin Jie; Sarafian, Richard Y; Wong, Hon Seng; Smith, Jeremy B

2016-01-01

Choroidal nevus is the most common ocular fundus tumor in adults. Previous studies have widely discussed the features of choroidal neovascularization secondary to nevus and its treatment options. Polypoidal choroidal vasculopathy (PCV) is an exudative chorioretinopathy that is often underdiagnosed. Clinical features, natural history, and treatment response of PCV are distinct from occult choroidal neovascularization. Polypoidal choroidal vasculopathy secondary to choroidal nevus has not been previously documented. We report a patient with a history of stable choroidal nevus who developed a polypoidal lesion at the edge of the nevus lesion. A white woman who presented with a choroidal nevus and clinical features of PCV was examined using fundoscopy, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. A polypoidal lesion with an associated branching vascular network adjacent to the nevus was demonstrated by optical coherence tomography, fluorescein angiography, and indocyanine green angiography. The patient was asymptomatic and was managed conservatively. Our case showed that PCV developing in association with a stable choroidal nevus. Pathogenic mechanisms of this condition may include chronic degenerative or inflammatory changes at the level of the retinal pigment epithelium resulting in vascular changes. Unlike treatment of occult choroidal neovascularization secondary to nevus, optimal management of PCV secondary to nevus may vary. Indocyanine green angiography is the gold standard for the diagnosis of PCV and is a useful investigation in atypical choroidal neovascularization.

Morphological image analysis for classification of gastrointestinal tissues using optical coherence tomography

NASA Astrophysics Data System (ADS)

Garcia-Allende, P. Beatriz; Amygdalos, Iakovos; Dhanapala, Hiruni; Goldin, Robert D.; Hanna, George B.; Elson, Daniel S.

2012-01-01

Computer-aided diagnosis of ophthalmic diseases using optical coherence tomography (OCT) relies on the extraction of thickness and size measures from the OCT images, but such defined layers are usually not observed in emerging OCT applications aimed at "optical biopsy" such as pulmonology or gastroenterology. Mathematical methods such as Principal Component Analysis (PCA) or textural analyses including both spatial textural analysis derived from the two-dimensional discrete Fourier transform (DFT) and statistical texture analysis obtained independently from center-symmetric auto-correlation (CSAC) and spatial grey-level dependency matrices (SGLDM), as well as, quantitative measurements of the attenuation coefficient have been previously proposed to overcome this problem. We recently proposed an alternative approach consisting of a region segmentation according to the intensity variation along the vertical axis and a pure statistical technology for feature quantification. OCT images were first segmented in the axial direction in an automated manner according to intensity. Afterwards, a morphological analysis of the segmented OCT images was employed for quantifying the features that served for tissue classification. In this study, a PCA processing of the extracted features is accomplished to combine their discriminative power in a lower number of dimensions. Ready discrimination of gastrointestinal surgical specimens is attained demonstrating that the approach further surpasses the algorithms previously reported and is feasible for tissue classification in the clinical setting.

Dominant inheritance of cerebral gigantism.

PubMed

Zonana, J; Sotos, J F; Romshe, C A; Fisher, D A; Elders, M J; Rimoin, D L

1977-08-01

Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.

Design and characterization of very high frequency pulse tube prototypes

NASA Astrophysics Data System (ADS)

Lopes, Diogo; Duval, Jean-Marc; Charles, Ivan; Butterworth, James; Trollier, Thierry; Tanchon, Julien; Ravex, Alain; Daniel, Christophe

2012-06-01

Weight and size are important features of a cryocooler when it comes to space applications. Given their reliability and low level of exported vibrations (due to the absence of moving cold parts), pulse tubes are good candidates for spatial purposes and their miniaturization has been the focus of many studies. We report on the design and performance of a small-scale very high frequency pulse tube prototype, modeled after two previous prototypes which were optimized with a numerical code.

A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

PubMed Central

Farag, T I; Al-Awadi, S A; Hunt, M C; Satyanath, S; Zahran, M; Usha, R; Uma, R

1987-01-01

We present an Arab family with some features of Kniest disease. The proband was a six year old boy with rhizomelic short limbed dwarfism, 'dish-like' facies, cleft palate, deafness, and camptodactyly. Most radiological changes were compatible with Kniest disease. Two younger sibs, similarly affected, had died at a few months old, and the pedigree shows strong evidence of autosomal recessive inheritance, unlike previously reported cases of Kniest disease which have shown autosomal dominant inheritance. Images PMID:3681904

Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy.

PubMed

Thomas, P K; Claus, D; King, R H

1999-02-01

A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) with cerebellar involvement in a teenager

PubMed Central

Langille, Megan M.; Desai, Jay

2015-01-01

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) typically presents with limbic encephalitis and medial temporal lobe involvement on neuroimaging. We describe a case of 13 year girl female with encephalitis due to antibodies to VGKC with signal changes in the cerebellar dentate nuclei bilaterally and clinical features that suggested predominant cerebellar involvement. These have never been reported previously in the literature. Our case expands the phenotypic spectrum of this rare condition. PMID:26019428

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) with cerebellar involvement in a teenager.

PubMed

Langille, Megan M; Desai, Jay

2015-01-01

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) typically presents with limbic encephalitis and medial temporal lobe involvement on neuroimaging. We describe a case of 13 year girl female with encephalitis due to antibodies to VGKC with signal changes in the cerebellar dentate nuclei bilaterally and clinical features that suggested predominant cerebellar involvement. These have never been reported previously in the literature. Our case expands the phenotypic spectrum of this rare condition.

Polymorphism at the ref(2)P locus in Drosophila melanogaster: preliminary experiments concerning the selection mechanisms involved in its maintenance.

PubMed

Fleuriet, A

1981-02-01

It has been shown previously that a polymorphism for two alleles of the ref(2)P locus is a regular feature of French natural populations of Drosophila melanogaster and that this is maintained in laboratory populations raised in cages. In this paper, an experimental population and egg-collection experiments are reported. Differential survival of the three genotypes would be the main factor leading to the equilibrium frequencies, working only in drastic conditions of larval competition.

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

PubMed Central

Al-Herz, Waleed; Bousfiha, Aziz; Casanova, Jean-Laurent; Chapel, Helen; Conley, Mary Ellen; Cunningham-Rundles, Charlotte; Etzioni, Amos; Fischer, Alain; Franco, Jose Luis; Geha, Raif S.; Hammarström, Lennart; Nonoyama, Shigeaki; Notarangelo, Luigi Daniele; Ochs, Hans Dieter; Puck, Jennifer M.; Roifman, Chaim M.; Seger, Reinhard; Tang, Mimi L. K.

2011-01-01

We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases. PMID:22566844

Data Validation for Earth Probe-Total Ozone Mapping Spectrometer

NASA Technical Reports Server (NTRS)

Stanford, John L.

1995-01-01

This presentation represents the final report for the NASA grant project. The goal of this project was to provide scientific analysis to aid in validation fo data sets used in detection of long term global trends of total ozone. Ozone data from the Earth Probe Total Ozone Mapping Spectrometer instrument was compared for validation purposes with features in previous TOMS data. Atmospheric dynamic concepts were used in the analysis. The publications sponsored by the grant are listed along with abstracts.

"Anti-Michael addition" of Grignard reagents to sulfonylacetylenes: synthesis of alkynes.

PubMed

Esteban, Francisco; Boughani, Lazhar; García Ruano, José L; Fraile, Alberto; Alemán, José

2017-05-10

In this work, the addition of Grignard reagents to arylsulfonylacetylenes, which undergoes an "anti-Michael addition", resulting in their alkynylation under very mild conditions is described. The simplicity of the experimental procedure and the functional group tolerance are the main features of this methodology. This is an important advantage over the use of organolithium at -78 °C that we previously reported. Moreover, the synthesis of diynes and other examples showing functional group tolerance in this anti-Michael reaction is also presented.

Design and evaluation of 1,7-naphthyridones as novel KDM5 inhibitors.

PubMed

Labadie, Sharada S; Dragovich, Peter S; Cummings, Richard T; Deshmukh, Gauri; Gustafson, Amy; Han, Ning; Harmange, Jean-Christophe; Kiefer, James R; Li, Yue; Liang, Jun; Liederer, Bianca M; Liu, Yichin; Manieri, Wanda; Mao, Wiefeng; Murray, Lesley; Ortwine, Daniel F; Trojer, Patrick; VanderPorten, Erica; Vinogradova, Maia; Wen, Li

2016-09-15

Features from a high throughput screening (HTS) hit and a previously reported scaffold were combined to generate 1,7-naphthyridones as novel KDM5 enzyme inhibitors with nanomolar potencies. These molecules exhibited high selectivity over the related KDM4C and KDM2B isoforms. An X-ray co-crystal structure of a representative molecule bound to KDM5A showed that these inhibitors are competitive with the co-substrate (2-oxoglutarate or 2-OG). Copyright © 2016 Elsevier Ltd. All rights reserved.

PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions.

PubMed

Bhattacharya, J J; Luo, C B; Alvarez, H; Rodesch, G; Pongpech, S; Lasjaunias, P L

2004-03-01

PHACE and PHACES are acronyms for a syndrome of variable expression comprising posterior cranial fossa malformations, facial haemangiomas, arterial anomalies, aortic coarctation and other cardiac disorders, ocular abnormalities and stenotic arterial disease. We review five girls and three boys aged 1 month-14 years with disorders from this spectrum. Six had large facial haemangiomas but recent reports suggest that small haemangiomas may occur; hence our inclusion of two possible cases. We also focus on the recently recognised feature of progressive intracranial arterial occlusions, present in four of our patients, later than previously recognised, from 4 to 14 years of age. We suggest that many elements of this disorder could reflect an abnormality of cell proliferation and apoptosis.

Sporadic inclusion body myositis misdiagnosed as idiopathic granulomatous myositis.

PubMed

Lavian, Monica; Goyal, Namita; Mozaffar, Tahseen

2016-11-01

We present a case of a 65-year-old woman who was previously diagnosed with idiopathic granulomatous myositis and treated with immunosuppressive therapy for the next 10 years before a clinical diagnosis of inclusion body myositis was made. A review of the previously performed muscle biopsy showed most of the cardinal myopathologic features of sporadic inclusion body myositis, in addition to the granuloma. Her clinical course was strongly suggestive of inclusion body myositis with selective asymmetric weakness of forearm flexor muscles and quadriceps. This report highlights the importance of correlating clinical picture with muscle pathology changes along with judicious use of magnetic resonance imaging and serological studies to establish a definite diagnosis. Copyright © 2016 Elsevier B.V. All rights reserved.

New insights on late stage volcanism in the Pigafetta basin, western Pacific

NASA Astrophysics Data System (ADS)

Stadler, T.; Tominaga, M.

2014-12-01

We document observations of late stage volcanism in the western Pacific Pigafetta Basin by integrating previously published and new multichannel seismic (MCS) reflection profiles, Ocean Drilling Program (ODP) drill core, and well log data. We examine data from three seismic experiments (FM35-12, MESOPAC II, and MTr5) conducted in the Pigafetta Basin, one of the oldest, deepest abyssal basins in the world, where crustal age is suggested to range from M29 (~157 Ma) to M44 (~169.8 Ma) based on Japanese Mesozoic magnetic lineations. We use a total of ~2150 km of MCS lines along with core and wire-line logging data from ODP Hole 801C. As a basis for our interpretation, we use previously defined seismic stratigraphy for the Pigafetta Basin, including Horizon B (basement) and lower transparent unit (volcaniclastic turbidites) terminology. We build synthetic seismograms from density and p-wave velocity logs using OpendTect v 4.6.0 tie well to seismic feature. We then incorporate energy and similarity attributes of the MCS profiles with the modeled seismogram to correlate reflectors to ODP Hole 801C lithostratigraphy. From this correlation, to be consistent with previous studies, we assign lithology and age to prominent sedimentary and basement reflectors throughout all survey lines. We characterize widely distributed deformation of Horizon B and lower sedimentary unit reflectors based on coherency of wiggle traces, lateral and vertical energy attenuation, and dip of reflectors over a range of scales (>10 km to <1 km). Our findings provide new evidence of late stage volcanism occurring in the Pigafetta Basin during the mid-Cretaceous (110 - 90 Ma). We classify late stage volcanism into 3 types of volcanic related features: (1) seamounts, (2) sills, and (3) vertical seismic disturbance zones (<<1 km wide) characterized by bilateral upward drag of reflectors (indicating a thin, vertical volcanic intrusion). The distribution of these features provide new insights into Cretaceous volcanism in the Pigafetta Basin: (i) late stage volcanism is more widely distributed and younger than previously reported, (ii) findings indicate a local source of magma, and (iii) the modes of volcanism differ from previously documented flood basalts and massive flows.

Combining Deep and Handcrafted Image Features for Presentation Attack Detection in Face Recognition Systems Using Visible-Light Camera Sensors

PubMed Central

Nguyen, Dat Tien; Pham, Tuyen Danh; Baek, Na Rae; Park, Kang Ryoung

2018-01-01

Although face recognition systems have wide application, they are vulnerable to presentation attack samples (fake samples). Therefore, a presentation attack detection (PAD) method is required to enhance the security level of face recognition systems. Most of the previously proposed PAD methods for face recognition systems have focused on using handcrafted image features, which are designed by expert knowledge of designers, such as Gabor filter, local binary pattern (LBP), local ternary pattern (LTP), and histogram of oriented gradients (HOG). As a result, the extracted features reflect limited aspects of the problem, yielding a detection accuracy that is low and varies with the characteristics of presentation attack face images. The deep learning method has been developed in the computer vision research community, which is proven to be suitable for automatically training a feature extractor that can be used to enhance the ability of handcrafted features. To overcome the limitations of previously proposed PAD methods, we propose a new PAD method that uses a combination of deep and handcrafted features extracted from the images by visible-light camera sensor. Our proposed method uses the convolutional neural network (CNN) method to extract deep image features and the multi-level local binary pattern (MLBP) method to extract skin detail features from face images to discriminate the real and presentation attack face images. By combining the two types of image features, we form a new type of image features, called hybrid features, which has stronger discrimination ability than single image features. Finally, we use the support vector machine (SVM) method to classify the image features into real or presentation attack class. Our experimental results indicate that our proposed method outperforms previous PAD methods by yielding the smallest error rates on the same image databases. PMID:29495417

Combining Deep and Handcrafted Image Features for Presentation Attack Detection in Face Recognition Systems Using Visible-Light Camera Sensors.

PubMed

Nguyen, Dat Tien; Pham, Tuyen Danh; Baek, Na Rae; Park, Kang Ryoung

2018-02-26

Although face recognition systems have wide application, they are vulnerable to presentation attack samples (fake samples). Therefore, a presentation attack detection (PAD) method is required to enhance the security level of face recognition systems. Most of the previously proposed PAD methods for face recognition systems have focused on using handcrafted image features, which are designed by expert knowledge of designers, such as Gabor filter, local binary pattern (LBP), local ternary pattern (LTP), and histogram of oriented gradients (HOG). As a result, the extracted features reflect limited aspects of the problem, yielding a detection accuracy that is low and varies with the characteristics of presentation attack face images. The deep learning method has been developed in the computer vision research community, which is proven to be suitable for automatically training a feature extractor that can be used to enhance the ability of handcrafted features. To overcome the limitations of previously proposed PAD methods, we propose a new PAD method that uses a combination of deep and handcrafted features extracted from the images by visible-light camera sensor. Our proposed method uses the convolutional neural network (CNN) method to extract deep image features and the multi-level local binary pattern (MLBP) method to extract skin detail features from face images to discriminate the real and presentation attack face images. By combining the two types of image features, we form a new type of image features, called hybrid features, which has stronger discrimination ability than single image features. Finally, we use the support vector machine (SVM) method to classify the image features into real or presentation attack class. Our experimental results indicate that our proposed method outperforms previous PAD methods by yielding the smallest error rates on the same image databases.

Classification of octet AB-type binary compounds using dynamical charges: A materials informatics perspective

DOE PAGES

Pilania, G.; Gubernatis, J. E.; Lookman, T.

2015-12-03

The role of dynamical (or Born effective) charges in classification of octet AB-type binary compounds between four-fold (zincblende/wurtzite crystal structures) and six-fold (rocksalt crystal structure) coordinated systems is discussed. We show that the difference in the dynamical charges of the fourfold and sixfold coordinated structures, in combination with Harrison’s polarity, serves as an excellent feature to classify the coordination of 82 sp–bonded binary octet compounds. We use a support vector machine classifier to estimate the average classification accuracy and the associated variance in our model where a decision boundary is learned in a supervised manner. Lastly, we compare the out-of-samplemore » classification accuracy achieved by our feature pair with those reported previously.« less

On the Automaticity of the Evaluative Priming Effect in the Valent/Non-Valent Categorization Task

PubMed Central

Spruyt, Adriaan; Tibboel, Helen

2015-01-01

It has previously been argued (a) that automatic evaluative stimulus processing is critically dependent upon feature-specific attention allocation and (b) that evaluative priming effects can arise in the absence of dimensional overlap between the prime set and the response set. In line with both claims, research conducted at our lab revealed that the evaluative priming effect replicates in the valent/non-valent categorization task. This research was criticized, however, because non-automatic, strategic processes may have contributed to the emergence of this effect. We now report the results of a replication study in which the operation of non-automatic, strategic processes was controlled for. A clear-cut evaluative priming effect emerged, thus supporting initial claims concerning feature-specific attention allocation and dimensional overlap. PMID:25803444

On the automaticity of the evaluative priming effect in the valent/non-valent categorization task.

PubMed

Spruyt, Adriaan; Tibboel, Helen

2015-01-01

It has previously been argued (a) that automatic evaluative stimulus processing is critically dependent upon feature-specific attention allocation and (b) that evaluative priming effects can arise in the absence of dimensional overlap between the prime set and the response set. In line with both claims, research conducted at our lab revealed that the evaluative priming effect replicates in the valent/non-valent categorization task. This research was criticized, however, because non-automatic, strategic processes may have contributed to the emergence of this effect. We now report the results of a replication study in which the operation of non-automatic, strategic processes was controlled for. A clear-cut evaluative priming effect emerged, thus supporting initial claims concerning feature-specific attention allocation and dimensional overlap.

Implementation of visual data mining for unsteady blood flow field in an aortic aneurysm.

PubMed

Morizawa, Seiichiro; Shimoyama, Koji; Obayashi, Shigeru; Funamoto, Kenichi; Hayase, Toshiyuki

2011-12-01

This study was performed to determine the relations between the features of wall shear stress and aneurysm rupture. For this purpose, visual data mining was performed in unsteady blood flow simulation data for an aortic aneurysm. The time-series data of wall shear stress given at each grid point were converted to spatial and temporal indices, and the grid points were sorted using a self-organizing map based on the similarity of these indices. Next, the results of cluster analysis were mapped onto the real space of the aortic aneurysm to specify the regions that may lead to aneurysm rupture. With reference to previous reports regarding aneurysm rupture, the visual data mining suggested specific hemodynamic features that cause aneurysm rupture. GRAPHICAL ABSTRACT:

A new troodontid dinosaur from China with avian-like sleeping posture.

PubMed

Xu, Xing; Norell, Mark A

2004-10-14

Discovering evidence of behaviour in fossilized vertebrates is rare. Even rarer is evidence of behaviour in non-avialan dinosaurs that directly relates to stereotypical behaviour seen in extant birds (avians) and not previously predicted in non-avialan dinosaurs. Here we report the discovery of a new troodontid taxon from the Early Cretaceous Yixian Formation of western Liaoning, China. Numerous other three-dimensionally preserved vertebrate fossils have been recovered recently at this locality, including some specimens preserving behavioural information. The new troodontid preserves several features that have been implicated in avialan origins. Notably, the specimen is preserved in the stereotypical sleeping or resting posture found in extant Aves. Evidence of this behaviour outside of the crown group Aves further demonstrates that many bird features occurred early in dinosaurian evolution.

Novel FANCI mutations in Fanconi anemia with VACTERL association.

PubMed

Savage, Sharon A; Ballew, Bari J; Giri, Neelam; Chandrasekharappa, Settara C; Ameziane, Najim; de Winter, Johan; Alter, Blanche P

2016-02-01

Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel and all mutations are likely deleterious to protein function. There are now 16 reported cases of FA due to FANCI of whom 7 have at least 3 features of the VACTERL association (44%). This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized. © 2015 Wiley Periodicals, Inc.

Improvement to the scanning electron microscope image adaptive Canny optimization colorization by pseudo-mapping.

PubMed

Lo, T Y; Sim, K S; Tso, C P; Nia, M E

2014-01-01

An improvement to the previously proposed adaptive Canny optimization technique for scanning electron microscope image colorization is reported. The additional feature, called pseudo-mapping technique, is that the grayscale markings are temporarily mapped to a set of pre-defined pseudo-color map as a mean to instill color information for grayscale colors in chrominance channels. This allows the presence of grayscale markings to be identified; hence optimization colorization of grayscale colors is made possible. This additional feature enhances the flexibility of scanning electron microscope image colorization by providing wider range of possible color enhancement. Furthermore, the nature of this technique also allows users to adjust the luminance intensities of selected region from the original image within certain extent. © 2014 Wiley Periodicals, Inc.

Diffuse large B cell lymphoma of thyroid as a masquerader of anaplastic carcinoma of thyroid, diagnosed by FNA: a case report.

PubMed

Daneshbod, Yahya; Omidvari, Shapour; Daneshbod, Khosrow; Negahban, Shahrzad; Dehghani, Mehdi

2006-10-19

Both thyroid lymphoma and anaplastic carcinoma of thyroid present with rapidly growing mass in eldery patients. Anaplastic carcinoma has high mortality rate and combination of surgery, radiation therapy and multidrug chemotherapy are the best chance for cure. Prognosis of thyroid lymphoma is excellent and chemotherapy for widespred lymphoms and radiotherapy with or without adjuvant chemotherapy for tumors localized to the gland, are the treatment of choice. This article reports a 70 year old man presenting with diffuse neck swelling and hoarseness of few weeks duration. Fine needle aspiration was done and reported as anaplastic carcinoma of thyroid which thyroidectomy was planned. The slides were sent for second opinion. After review, with initial diagnosis of anaplastic carcinoma versus lymphoma, immunocytochemical study was performed. Smears were positive for B cell markers and negative for cytokeratin, so with the impression of diffuse large B cell lymphoma, the patient received two courses of chemotherapy by which the tumor disappeared during two weaks. Despite previous reports, stating easy diagnosis of high-grade thyroid lymphoma on the grounds of cytomorphological features we like to emphasize, overlapping cytologic features of the curable high grade thyroid lymphoma form noncurable anaplastic thyroid carcinoma and usefulness of immunocytochemistry to differentiate these two disease.

Temperature and field direction dependences of first-order reversal curve (FORC) diagrams of hot-deformed Nd-Fe-B magnets

NASA Astrophysics Data System (ADS)

Yomogita, Takahiro; Okamoto, Satoshi; Kikuchi, Nobuaki; Kitakami, Osamu; Sepehri-Amin, Hossein; Ohkubo, Tadakatsu; Hono, Kazuhiro; Akiya, Takahiro; Hioki, Keiko; Hattori, Atsushi

2018-02-01

First-order reversal curve (FORC) diagram has been previously adopted for the analyses of magnetization reversal process and/or quantitative evaluation of coercivity and interaction field dispersions in various magnetic samples. Although these kinds of information are valuable for permanent magnets, previously reported FORC diagrams of sintered Nd-Fe-B magnets exhibit very complicated patterns. In this paper, we have studied the FORC diagrams of hot-deformed Nd-Fe-B magnets under various conditions. Contrary to the previous reports on sintered Nd-Fe-B magnets, the FORC diagram of the hot-deformed Nd-Fe-B magnet exhibits a very simple pattern consisting of a strong spot and a weak line. From this FORC diagram pattern, it is revealed that the coercivity dispersion of the hot-deformed Nd-Fe-B magnets is surprisingly small. Moreover, this feature of the FORC diagram pattern is very robust and unaffected by changes in various conditions such as grain boundary diffusion process, temperature, and field direction, whereas these conditions significantly change the coercivity and the shape of magnetization curve. This fact indicates that the magnetization reversal process of the hot-deformed Nd-Fe-B magnets is almost unchanged against these conditions.

Pap-tests with non-hyperchromatic dyskariosis are often associated with squamous intraepithelial lesions of the cervix uteri with eosinophilic features.

PubMed

Bellisano, Giulia; Ambrosini-Spaltro, Andrea; Faa, Gavino; Ravarino, Alberto; Piccin, Andrea; Peer, Irmgard; Kasal, Armin; Vittadello, Fabio; Negri, Giovanni

2016-10-01

Squamous intraepithelial lesions of the cervix uteri with eosinophilic features (eosinophilic dysplasia, ED) are a peculiar type of dysplasia with metaplastic phenotype which was described in histological specimens. The cytological features of these lesions have not been studied yet. Histological samples from 66 women with features of ED and positive p16(INK4a) staining were included in the study. Within the previous year, all women had at least one pap-test, whose features were recorded and compared with 31 control samples with high-grade dysplasia of usual type. The previous pap-test showed high-grade dysplastic cells with non-hyperchromatic nuclei in 56/66 (84.8%) cases and metaplastic features in 60/66 (90.9%) cases. Conversely, the dysplastic cells of the usual lesions showed non-hyperchromatic nuclei in 6/31 (19.4%) and metaplastic features in 4/31 (12.9%) cases. Statistical analysis showed significant differences in distribution of the non-hyperchromatic nuclei (P < 0.001), metaplastic features (P < 0.001), presence of both non-hyperchromatic nuclei and metaplastic features (P < 0.001) and usual dysplastic features (P < 0.001) among the study and control groups. A high-grade squamous intraepithelial lesion with non-hyperchromatic nuclei or metaplastic features is often found in the pap-test previous to the histological diagnosis of ED and may represent the cytologic correlate of this particular type of dysplasia. Diagn. Cytopathol. 2016;44:783-786. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Components of effective randomized controlled trials of hydrotherapy programs for fibromyalgia syndrome: A systematic review.

PubMed

Perraton, Luke; Machotka, Zuzana; Kumar, Saravana

2009-11-30

Previous systematic reviews have found hydrotherapy to be an effective management strategy for fibromyalgia syndrome (FMS). The aim of this systematic review was to summarize the components of hydrotherapy programs used in randomized controlled trials. A systematic review of randomized controlled trials was conducted. Only trials that have reported significant FMS-related outcomes were included. Data relating to the components of hydrotherapy programs (exercise type, duration, frequency and intensity, environmental factors, and service delivery) were analyzed. Eleven randomized controlled trials were included in this review. Overall, the quality of trials was good. Aerobic exercise featured in all 11 trials and the majority of hydrotherapy programs included either a strengthening or flexibility component. Great variability was noted in both the environmental components of hydrotherapy programs and service delivery. Aerobic exercise, warm up and cool-down periods and relaxation exercises are common features of hydrotherapy programs that report significant FMS-related outcomes. Treatment duration of 60 minutes, frequency of three sessions per week and an intensity equivalent to 60%-80% maximum heart rate were the most commonly reported exercise components. Exercise appears to be the most important component of an effective hydrotherapy program for FMS, particularly when considering mental health-related outcomes.

Descriptive features and causal attributions of headache in an Australian community.

PubMed

Fernandez, E; Sheffield, J

1996-04-01

The reported characteristics and causes of headache differ across individuals and between groups. Such differences are of interest from an epidemiological point of view. This study set out to identify the main descriptive features and causal attributions of headache within an Australian urban community. A sample of 261 subjects reporting headache volunteered to participate in the survey. Subjects completed a self-report questionnaire for assessing demographic variables, headache parameters (intensity, duration, etc), headache medication habits, and perceived causes of one's headache (as in the UK headache survey by Blau, 1990). Results revealed that the typical headache sufferer was a middle-aged employed individual. Migraine versus tension headache were equivalent in number, and on the average, subjects experienced moderate intensity, day-long headaches that recurred about nine times per month. With regard to causal attributions, the prevalence of headaches due to mental stress was higher than that due to any other single stimulus (eg, noise, exercise), and alcohol was the most frequent dietary cause of headache. These findings are generally consistent with those from previous surveys, although some interesting departures emerge which may be accounted for by demographic differences in the populations studied.

Cryogenic terahertz spectrum of (+)-methamphetamine hydrochloride and assignment using solid-state density functional theory.

PubMed

Hakey, Patrick M; Allis, Damian G; Ouellette, Wayne; Korter, Timothy M

2009-04-30

The cryogenic terahertz spectrum of (+)-methamphetamine hydrochloride from 10.0 to 100.0 cm(-1) is presented, as is the complete structural analysis and vibrational assignment of the compound using solid-state density functional theory. This cryogenic investigation reveals multiple spectral features that were not previously reported in room-temperature terahertz studies of the title compound. Modeling of the compound employed eight density functionals utilizing both solid-state and isolated-molecule methods. The results clearly indicate the necessity of solid-state simulations for the accurate assignment of solid-state THz spectra. Assignment of the observed spectral features to specific atomic motions is based on the BP density functional, which provided the best-fit solid-state simulation of the experimental spectrum. The seven experimental spectral features are the result of thirteen infrared-active vibrational modes predicted at a BP/DNP level of theory with more than 90% of the total spectral intensity associated with external crystal vibrations.

Automated spike sorting algorithm based on Laplacian eigenmaps and k-means clustering.

PubMed

Chah, E; Hok, V; Della-Chiesa, A; Miller, J J H; O'Mara, S M; Reilly, R B

2011-02-01

This study presents a new automatic spike sorting method based on feature extraction by Laplacian eigenmaps combined with k-means clustering. The performance of the proposed method was compared against previously reported algorithms such as principal component analysis (PCA) and amplitude-based feature extraction. Two types of classifier (namely k-means and classification expectation-maximization) were incorporated within the spike sorting algorithms, in order to find a suitable classifier for the feature sets. Simulated data sets and in-vivo tetrode multichannel recordings were employed to assess the performance of the spike sorting algorithms. The results show that the proposed algorithm yields significantly improved performance with mean sorting accuracy of 73% and sorting error of 10% compared to PCA which combined with k-means had a sorting accuracy of 58% and sorting error of 10%.A correction was made to this article on 22 February 2011. The spacing of the title was amended on the abstract page. No changes were made to the article PDF and the print version was unaffected.

The relation between attachment, personality, internalizing, and externalizing dimensions in adolescents with borderline personality disorder.

PubMed

Ramos, Vera; Canta, Guilherme; de Castro, Filipa; Leal, Isabel

2016-01-01

The relation between attachment and personality features is an important field to explore in adolescent borderline personality disorder (BPD), and previous research has shown that personality features may be conceptualized within latent internalizing and externalizing dimensions. This cross-sectional study used a structural equation model to examine the association between the BPD participants' perception of attachment and personality features, mediated by the underlying internalizing/externalizing personality dimensions. Data were analyzed for 60 adolescents, ages 15 to 18 years, diagnosed with BPD who completed attachment and personality self-report measures. The authors' results showed a good fit of the model, suggesting a significant association between attachment and the internalizing/externalizing dimensions, which simultaneously congregate and influence personality traits. The perception of attachment anxiety was positively related to the internalizing dimension and at the same time negatively related to the externalizing dimension. However, the perception of attachment avoidance was not related to internalizing or externalizing personality dimensions.

Self-reported impulsivity, rather than sociosexuality, predicts women's preferences for masculine features in male faces.

PubMed

Boothroyd, Lynda G; Brewer, Gayle

2014-07-01

Previous research has suggested that an individual's sociosexual orientation (i.e., their willingness to engage in sexual behavior outside of long-term relationships) may influence the qualities they find attractive in a potential mate. Results, however, have not been consistent and, moreover, studies have tended to draw from specific social groups. Here, we tested the relationship between sociosexuality and female's preferences for masculinity in male faces, using a diverse population. We furthermore investigated impulsivity alongside sociosexuality, as this trait has been suggested as a "root" cause of variation in sexual behavior (Cross, 2010) and thus may better explain variation in mate choice. Results showed a significant association between increases in both sociosexuality and two subcomponents of impulsivity and greater preferences for masculine male features. Regression analysis suggested that a subcomponent of impulsivity, namely lack of planning, was the primary determinant of preferences. We discuss the implications these results have for our understanding of female attraction to masculine features.

Constrained Source Apportionment of Coarse Particulate Matter and Selected Trace Elements in Three Cities from the Multi-Ethnic Study of Atherosclerosis

PubMed Central

Sturtz, Timothy M.; Adar, Sara D.; Gould, Timothy; Larson, Timothy V.

2016-01-01

PM10-2.5 mass and trace element concentrations were measured in Winston-Salem, Chicago, and St. Paul at up to 60 sites per city during two different seasons in 2010. Positive Matrix Factorization (PMF) was used to explore the underlying sources of variability. Information on previously reported PM10-2.5 tire and brake wear profiles was used to constrain these features in PMF by prior specification of selected species ratios. We also modified PMF to allow for combining the measurements from all three cities into a single model while preserving city-specific soil features. Relatively minor differences were observed between model predictions with and without the prior ratio constraints, increasing confidence in our ability to identify separate brake wear and tire wear features. Brake wear, tire wear, fertilized soil, and re-suspended soil were found to be important sources of copper, zinc, phosphorus, and silicon respectively across all three urban areas. PMID:27468256

Examining the relationship between childhood sexual abuse and borderline personality disorder: does social support matter?

PubMed

Elzy, Meredith B

2011-05-01

The relationship between childhood sexual abuse and borderline personality disorder is a prominent issue in the etiological research on borderline personality disorder. This study further explored the relationship between childhood sexual abuse and the development of borderline personality features while evaluating the moderating role of a primary social support source in a sample of 290 female undergraduate students enrolled at a major southeastern university. Consistent with previous research, retrospective self-reports of childhood sexual abuse and low social support were both positively correlated with current borderline personality features. It was hypothesized that the presence of a supportive relationship at the time the childhood sexual abuse occurred would moderate the relationship between childhood sexual abuse and borderline personality features. This moderation hypothesis was not supported in the current study, but post-hoc analyses reveal the need to further examine how we define social support following childhood sexual abuse. This research is a stepping stone toward the prevention of borderline personality disorder following childhood sexual abuse.

The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges.

PubMed

Burger, Bettina; Fuchs, Dana; Sprecher, Eli; Itin, Peter

2011-05-01

In the digital age, personal identification by fingerprints (epidermal ridges) has become more frequent and is often required for biometric passports. The more fingerprints are analyzed, the more variants in their formation are documented. Individuals completely missing fingerprints as an isolated finding are extremely rare. Only 4 kindreds have been described to date, with additional clinical features in most cases. We describe a female patient with missing epidermal ridges on the fingers, palms, toes, and soles as an isolated feature. Absent fingerprints, or adermatoglyphia, were inherited over 4 generations of her family in an autosomal dominant fashion. We present the clinical features of the index patient, and compare the case with previous reports in the literature. Because of problems in personal identification, this embryologic malformation caused the patient significant difficulties when traveling to other countries, which is why we name it the immigration delay disease. Copyright © 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Constrained source apportionment of coarse particulate matter and selected trace elements in three cities from the multi-ethnic study of atherosclerosis

NASA Astrophysics Data System (ADS)

Sturtz, Timothy M.; Adar, Sara D.; Gould, Timothy; Larson, Timothy V.

2014-02-01

PM10-2.5 mass and trace element concentrations were measured in Winston-Salem, Chicago, and St. Paul at up to 60 sites per city during two different seasons in 2010. Positive Matrix Factorization (PMF) was used to explore the underlying sources of variability. Information on previously reported PM10-2.5 tire and brake wear profiles was used to constrain these features in PMF by prior specification of selected species ratios. We also modified PMF to allow for combining the measurements from all three cities into a single model while preserving city-specific soil features. Relatively minor differences were observed between model predictions with and without the prior ratio constraints, increasing confidence in our ability to identify separate brake wear and tire wear features. Brake wear, tire wear, fertilized soil, and resuspended soil were found to be important sources of copper, zinc, phosphorus, and silicon, respectively, across all three urban areas.

A Hybrid Classification System for Heart Disease Diagnosis Based on the RFRS Method.

PubMed

Liu, Xiao; Wang, Xiaoli; Su, Qiang; Zhang, Mo; Zhu, Yanhong; Wang, Qiugen; Wang, Qian

2017-01-01

Heart disease is one of the most common diseases in the world. The objective of this study is to aid the diagnosis of heart disease using a hybrid classification system based on the ReliefF and Rough Set (RFRS) method. The proposed system contains two subsystems: the RFRS feature selection system and a classification system with an ensemble classifier. The first system includes three stages: (i) data discretization, (ii) feature extraction using the ReliefF algorithm, and (iii) feature reduction using the heuristic Rough Set reduction algorithm that we developed. In the second system, an ensemble classifier is proposed based on the C4.5 classifier. The Statlog (Heart) dataset, obtained from the UCI database, was used for experiments. A maximum classification accuracy of 92.59% was achieved according to a jackknife cross-validation scheme. The results demonstrate that the performance of the proposed system is superior to the performances of previously reported classification techniques.

The Effects of Pop-up Harm Minimisation Messages on Electronic Gaming Machine Gambling Behaviour in New Zealand.

PubMed

Palmer du Preez, Katie; Landon, Jason; Bellringer, Maria; Garrett, Nick; Abbott, Max

2016-12-01

In New Zealand a simple pop-up message feature that provides gambling session information and forces a break in play is mandatory on all electronic gaming machines in all venues (EGMs). Previous research has demonstrated small effects of more sophisticated pop-up messages tested predominantly in laboratory environments. The present research examined gambler engagement with and views on the New Zealand pop-up messages and on the relationship between pop-up messages and EGM expenditure. A sample of gamblers was recruited at casino and non-casino (pub) EGM venues. Most participants were aware of pop-up messages (57 %) and many saw them often (38 %). Among gamblers who reported seeing pop-up messages, half read the message content, and a quarter believed that pop-up messages helped them control the amount of money they spend on gambling. Participants who reported being likely to stop gambling in response to pop-up messages spent significantly less money on gambling when variables that were independently associated with EGM expenditure were controlled for. A modest harm minimisation effect of the pop-up message feature that has been operating in New Zealand for 5 years was evident. Suggestions for improvement of the harm minimisation potential of the current pop-up message feature are discussed.

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

PubMed

Mattioli, Francesca; Piton, Amelie; Gérard, Bénédicte; Superti-Furga, Andrea; Mandel, Jean-Louis; Unger, Sheila

2016-06-01

The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum. Recently, heterozygous de novo missense mutations in ZBTB20, coding for a zing finger protein, have been identified in Primrose syndrome patients. We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of ZBTB20 (Ser616Phe and Gly741Arg; both previously unreported). One of them, Ser616Phe, affects an amino acid located in one of the C2H2 zing-fingers involved in DNA-binding and close to other missense mutations already described. Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, macrocephaly, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism. Review of the literature reveals another Primrose syndrome patient with hypothyroidism and thus, this may represent an under recognized component that should be investigated in other patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Noninvasive forward-scattering system for rapid detection, characterization, and identification of Listeria colonies: image processing and data analysis

NASA Astrophysics Data System (ADS)

Rajwa, Bartek; Bayraktar, Bulent; Banada, Padmapriya P.; Huff, Karleigh; Bae, Euiwon; Hirleman, E. Daniel; Bhunia, Arun K.; Robinson, J. Paul

2006-10-01

Bacterial contamination by Listeria monocytogenes puts the public at risk and is also costly for the food-processing industry. Traditional methods for pathogen identification require complicated sample preparation for reliable results. Previously, we have reported development of a noninvasive optical forward-scattering system for rapid identification of Listeria colonies grown on solid surfaces. The presented system included application of computer-vision and patternrecognition techniques to classify scatter pattern formed by bacterial colonies irradiated with laser light. This report shows an extension of the proposed method. A new scatterometer equipped with a high-resolution CCD chip and application of two additional sets of image features for classification allow for higher accuracy and lower error rates. Features based on Zernike moments are supplemented by Tchebichef moments, and Haralick texture descriptors in the new version of the algorithm. Fisher's criterion has been used for feature selection to decrease the training time of machine learning systems. An algorithm based on support vector machines was used for classification of patterns. Low error rates determined by cross-validation, reproducibility of the measurements, and robustness of the system prove that the proposed technology can be implemented in automated devices for detection and classification of pathogenic bacteria.

Role of epidermal growth factor receptor tyrosine kinase inhibitors in the treatment of bronchoalveolar carcinoma.

PubMed

Patel, Jyoti D

2004-12-01

Bronchoalveolar carcinoma (BAC) is a previously uncommon subset of non-small-cell lung cancer (NSCLC) with unique epidemiology, pathology, clinical features, and natural history compared with other NSCLC subtypes. Recent data indicate that the incidence of BAC is increasing. Although many studies have reported that patients with BAC have prolonged survival, advanced BAC remains incurable, with most patients eventually dying of respiratory failure from progressive pulmonary involvement or intercurrent illness. Previous limited data suggest that chemotherapy for BAC provides modest benefit; however, anecdotal reports of swift and durable responses after treatment with tyrosine kinase (TK) inhibitors of the epidermal growth factor receptor (EGFR) in patients with BAC have prompted further investigation in this subset of patients. Two trials using the EGFR TK inhibitors gefitinib and/or erlotinib have demonstrated encouraging results, and have prompted further enthusiasm for this approach. Furthermore, recent insights into mechanisms of drug sensitivity should impact future clinical trial design.

A unique case of magnet ingestion with respect to presentation and management.

PubMed

Yalçin, Sule; Karnak, Ibrahim; Ekinci, Saniye; Senocak, Mehmet Emin

2012-01-01

Magnet ingestion may lead to serious complications with delay in diagnosis and treatment. The forceful attraction between magnets, with gastric and/or intestinal wall entrapped between them, can cause injury through pressure necrosis. The radiological appearance of more than one magnet on X-ray can be easily misinterpreted as belonging to only one rod-like radiopaque foreign body, even if the magnets are located in different parts of the gastrointestinal tract, thus delaying the management up to the onset of emergent surgical complications. A 17-month-old female with ingestion of a pair of magnets is presented, together with introduction of the clinical picture and therapeutic approach, which differed from the other previously reported cases. The ovoid shape of the magnets, their localization in the gastrointestinal tract (leading to entrapped gastric and intestinal wall between them), absence of any complication, and the therapeutic approach of endoscopic retrieval are the main distinguishing features of this case from those previously reported.

Adaptive Optics Imaging in Laser Pointer Maculopathy.

PubMed

Sheyman, Alan T; Nesper, Peter L; Fawzi, Amani A; Jampol, Lee M

2016-08-01

The authors report multimodal imaging including adaptive optics scanning laser ophthalmoscopy (AOSLO) (Apaeros retinal image system AOSLO prototype; Boston Micromachines Corporation, Boston, MA) in a case of previously diagnosed unilateral acute idiopathic maculopathy (UAIM) that demonstrated features of laser pointer maculopathy. The authors also show the adaptive optics images of a laser pointer maculopathy case previously reported. A 15-year-old girl was referred for the evaluation of a maculopathy suspected to be UAIM. The authors reviewed the patient's history and obtained fluorescein angiography, autofluorescence, optical coherence tomography, infrared reflectance, and AOSLO. The time course of disease and clinical examination did not fit with UAIM, but the linear pattern of lesions was suspicious for self-inflicted laser pointer injury. This was confirmed on subsequent questioning of the patient. The presence of linear lesions in the macula that are best highlighted with multimodal imaging techniques should alert the physician to the possibility of laser pointer injury. AOSLO further characterizes photoreceptor damage in this condition. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:782-785.]. Copyright 2016, SLACK Incorporated.

Neurologic manifestations of the cryopyrin-associated periodic syndrome.

PubMed

Kitley, Joanna L; Lachmann, Helen J; Pinto, Ashwin; Ginsberg, Lionel

2010-04-20

The cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable hereditary autoinflammatory condition. Without treatment, one third of patients develop amyloidosis with consequent renal failure and death. CAPS encompasses 3 conditions: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile, neurologic, cutaneous, and articular syndrome. Neurologic complications are common in children with the chronic infantile, neurologic, cutaneous, and articular phenotype, but there are no previous published reports of neurologic features in adults with milder phenotypes. In this case series, we report in detail an adult case of CAPS and summarize the neurologic features seen in 12 other adults with genetically proven CAPS. These patients participated in a recent randomized study of canakinumab in CAPS and we used pretreatment data collected in this study. Twelve of the 13 patients (92%) had headache, of whom 10 (77%) had features of migraine. Seven patients (54%) had sensorineural deafness. Nine patients (69%) reported myalgia. Six patients (46%) had papilledema and a further 2 (15%) had optic disc pallor. MRI brain scan was normal in all patients. CAPS is a rare but treatable condition that may be encountered by neurologists in adult clinical practice since it can present with headache, myalgia, papilledema, sensorineural deafness, and aseptic meningitis. Unrecognized and untreated, it can lead to significant morbidity and mortality from renal failure. Treatment with anti-interleukin-1 therapy leads to complete resolution of symptoms and should also prevent progression to amyloidosis and subsequent renal failure.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

PubMed

van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M

2014-01-01

Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. © 2013 Wiley Periodicals, Inc.

Does skull shape mediate the relationship between objective features and subjective impressions about the face?

PubMed

Marečková, Klára; Chakravarty, M Mallar; Huang, Mei; Lawrence, Claire; Leonard, Gabriel; Perron, Michel; Pike, Bruce G; Richer, Louis; Veillette, Suzanne; Pausova, Zdenka; Paus, Tomáš

2013-10-01

In our previous work, we described facial features associated with a successful recognition of the sex of the face (Marečková et al., 2011). These features were based on landmarks placed on the surface of faces reconstructed from magnetic resonance (MR) images; their position was therefore influenced by both soft tissue (fat and muscle) and bone structure of the skull. Here, we ask whether bone structure has dissociable influences on observers' identification of the sex of the face. To answer this question, we used a novel method of studying skull morphology using MR images and explored the relationship between skull features, facial features, and sex recognition in a large sample of adolescents (n=876; including 475 adolescents from our original report). To determine whether skull features mediate the relationship between facial features and identification accuracy, we performed mediation analysis using bootstrapping. In males, skull features mediated fully the relationship between facial features and sex judgments. In females, the skull mediated this relationship only after adjusting facial features for the amount of body fat (estimated with bioimpedance). While body fat had a very slight positive influence on correct sex judgments about male faces, there was a robust negative influence of body fat on the correct sex judgments about female faces. Overall, these results suggest that craniofacial bone structure is essential for correct sex judgments about a male face. In females, body fat influences negatively the accuracy of sex judgments, and craniofacial bone structure alone cannot explain the relationship between facial features and identification of a face as female. Copyright © 2013 Elsevier Inc. All rights reserved.

Identification of aberrant gene expression associated with aberrant promoter methylation in primordial germ cells between E13 and E16 rat F3 generation vinclozolin lineage.

PubMed

Taguchi, Y-h

2015-01-01

Transgenerational epigenetics (TGE) are currently considered important in disease, but the mechanisms involved are not yet fully understood. TGE abnormalities expected to cause disease are likely to be initiated during development and to be mediated by aberrant gene expression associated with aberrant promoter methylation that is heritable between generations. However, because methylation is removed and then re-established during development, it is not easy to identify promoter methylation abnormalities by comparing normal lineages with those expected to exhibit TGE abnormalities. This study applied the recently proposed principal component analysis (PCA)-based unsupervised feature extraction to previously reported and publically available gene expression/promoter methylation profiles of rat primordial germ cells, between E13 and E16 of the F3 generation vinclozolin lineage that are expected to exhibit TGE abnormalities, to identify multiple genes that exhibited aberrant gene expression/promoter methylation during development. The biological feasibility of the identified genes were tested via enrichment analyses of various biological concepts including pathway analysis, gene ontology terms and protein-protein interactions. All validations suggested superiority of the proposed method over three conventional and popular supervised methods that employed t test, limma and significance analysis of microarrays, respectively. The identified genes were globally related to tumors, the prostate, kidney, testis and the immune system and were previously reported to be related to various diseases caused by TGE. Among the genes reported by PCA-based unsupervised feature extraction, we propose that chemokine signaling pathways and leucine rich repeat proteins are key factors that initiate transgenerational epigenetic-mediated diseases, because multiple genes included in these two categories were identified in this study.

Identification of aberrant gene expression associated with aberrant promoter methylation in primordial germ cells between E13 and E16 rat F3 generation vinclozolin lineage

PubMed Central

2015-01-01

Background Transgenerational epigenetics (TGE) are currently considered important in disease, but the mechanisms involved are not yet fully understood. TGE abnormalities expected to cause disease are likely to be initiated during development and to be mediated by aberrant gene expression associated with aberrant promoter methylation that is heritable between generations. However, because methylation is removed and then re-established during development, it is not easy to identify promoter methylation abnormalities by comparing normal lineages with those expected to exhibit TGE abnormalities. Methods This study applied the recently proposed principal component analysis (PCA)-based unsupervised feature extraction to previously reported and publically available gene expression/promoter methylation profiles of rat primordial germ cells, between E13 and E16 of the F3 generation vinclozolin lineage that are expected to exhibit TGE abnormalities, to identify multiple genes that exhibited aberrant gene expression/promoter methylation during development. Results The biological feasibility of the identified genes were tested via enrichment analyses of various biological concepts including pathway analysis, gene ontology terms and protein-protein interactions. All validations suggested superiority of the proposed method over three conventional and popular supervised methods that employed t test, limma and significance analysis of microarrays, respectively. The identified genes were globally related to tumors, the prostate, kidney, testis and the immune system and were previously reported to be related to various diseases caused by TGE. Conclusions Among the genes reported by PCA-based unsupervised feature extraction, we propose that chemokine signaling pathways and leucine rich repeat proteins are key factors that initiate transgenerational epigenetic-mediated diseases, because multiple genes included in these two categories were identified in this study. PMID:26677731

Report of a new case with pentasomy X and novel clinical findings

PubMed Central

Demirhan, O; Tanriverdi, N; Yilmaz, MB; Kocaturk-Sel, S; Inandiklioglu, N; Luleyap, U; Akbal, E; Comertpay, G; Tufan, T; Dur, O

2015-01-01

Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions. PMID:26929910

A case of antenatal Bartter syndrome with sensorineural deafness.

PubMed

Lee, Hyun Seung; Cheong, Hae Il; Ki, Chang-Seok

2010-10-01

Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.

Lymphoepithelioma-like Carcinoma of the Breast: A Case Report

PubMed Central

Top, Ömer Erdinç; Vardar, Enver; Yağcı, Ayşe; Deniz, Senem; Öztürk, Rafet; Zengel, Baha

2014-01-01

Lymphoepithelioma-like carcinoma carries similar histopathological features with lymphoepithelioma typically located in the nasopharynx. Lymphoepithelioma-like carcinoma of the breast can be mistaken for breast lymphoma or medullary carcinoma due to the undifferentiated appearance of tumor cells and presence of prominent lymphoid component. Lymphoepithelioma-like carcinoma is rare, and the similarity between medullary carcinoma of the breast makes it difficult to distinguish these two tumors. In the presented case, neither lymph node nor distant metastases were detected. Breast lymphoepithelioma-like carcinoma is extremely rare with only 21 reported cases in the literature. Herein we present a 59-year-old woman with lymphoepithelioma-like carcinoma of the breast along with the cases previously published in the literature. PMID:28331666

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

PubMed

Gawlik-Kuklinska, Katarzyna; Wierzba, Jolanta; Wozniak, Agnieszka; Iliszko, Mariola; Debiec-Rychter, Maria; Dubaniewicz-Wybieralska, Miroslawa; Limon, Janusz

2008-01-01

We report on a 4-year-old boy with a proximal interstitial deletion in the short arm of chromosome 4p with the karyotype 46,XY,del(4)(p14p15.32),inv(9)(p13q13). For a precise delineation of the deleted region, an array-based comparative genomic hybridization (a-CGH) analysis was performed. The proband's phenotype and cytogenetic findings are compared with previously reported cases with proximal 4p deletion syndrome. The syndrome is associated with normal growth, varying degrees of mental retardation, characteristic facial appearance and minor dysmorphic features. Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia.

Botryomycosis presenting as nasal cutaneous fistulas caused by Prevotella melaninogenica.

PubMed

Huang, C-F; Liaw, F-Y; Dai, N-T; Ou, K-W; Wang, C-C; Wang, W-M

2012-07-01

Botryomycosis is an uncommon chronic suppurative granulomatous bacterial infection that can affect the skin and viscera. Clinically, lesions typically consist of small tender nodules from which draining sinuses may develop to expel a purulent discharge. Histopathological features include characteristic aggregation of microorganisms (grain) within the inflammatory infiltrate. The commonest causative organisms are Staphylococcus aureus and Pseudomonas aeruginosa, of others. Botryomycosis resulting from Prevotella melaninogenica has not been reported previously. We report the case of a middle-aged patient with botryomycosis presenting as nasal cutaneous fistulas caused by P. melaninogenica, which was successfully treated with surgical intervention combined with systemic antibiotic treatment. © The Author(s). CED © 2011 British Association of Dermatologists.

Myointimoma of the glans penis.

PubMed

Vardar, Enver; Gunlusoy, Bulent; Arslan, Murat; Kececi, Sibel

2007-03-01

Myointimoma is a recently described benign tumor, which is regarded as a rare type of mesenchymal tumor of the penis. The present patient was a 50-year-old man who had a nodule located in the glans penis. He had a 2 month history of a mass. An excisional biopsy was performed. The histological findings revealed a multinodular tumor that was characterized by spindle-shaped cells located in the intravascular area. This case, in addition to 11 cases reported in the literature, demonstrates that the myointimoma is frequently misdiagnosed on clinical and pathological grounds because of its rarity. Histological and immunohistochemical features are summarized on the basis of the present case and previously published reports.

Macular pigmentation complicating irritant contact dermatitis and viral warts in Laugier-Hunziker syndrome.

PubMed

Bhoyrul, B; Paulus, J

2016-04-01

Laugier-Hunziker syndrome (LHS) is a rare acquired disorder characterized by macu-lar pigmentation of the lips and oral mucosa, with frequent longitudinal melanonychia. Involvement of other areas, such as the genitalia and fingers, has rarely been described. LHS is a benign condition with no known systemic manifestations. We report the case of a woman who developed melanotic macules on her fingers and elbow 16 years after the onset of pigmentation of her lips. This unusual feature of LHS in our patient was associated with irritant contact dermatitis and viral warts. Only two cases of an association with an inflammatory dermatosis have been reported previously in the literature. © 2015 British Association of Dermatologists.

Stream specificity and asymmetries in feature binding and content-addressable access in visual encoding and memory.

PubMed

Huynh, Duong L; Tripathy, Srimant P; Bedell, Harold E; Ögmen, Haluk

2015-01-01

Human memory is content addressable-i.e., contents of the memory can be accessed using partial information about the bound features of a stored item. In this study, we used a cross-feature cuing technique to examine how the human visual system encodes, binds, and retains information about multiple stimulus features within a set of moving objects. We sought to characterize the roles of three different features (position, color, and direction of motion, the latter two of which are processed preferentially within the ventral and dorsal visual streams, respectively) in the construction and maintenance of object representations. We investigated the extent to which these features are bound together across the following processing stages: during stimulus encoding, sensory (iconic) memory, and visual short-term memory. Whereas all features examined here can serve as cues for addressing content, their effectiveness shows asymmetries and varies according to cue-report pairings and the stage of information processing and storage. Position-based indexing theories predict that position should be more effective as a cue compared to other features. While we found a privileged role for position as a cue at the stimulus-encoding stage, position was not the privileged cue at the sensory and visual short-term memory stages. Instead, the pattern that emerged from our findings is one that mirrors the parallel processing streams in the visual system. This stream-specific binding and cuing effectiveness manifests itself in all three stages of information processing examined here. Finally, we find that the Leaky Flask model proposed in our previous study is applicable to all three features.

MicroRNA categorization using sequence motifs and k-mers.

PubMed

Yousef, Malik; Khalifa, Waleed; Acar, İlhan Erkin; Allmer, Jens

2017-03-14

Post-transcriptional gene dysregulation can be a hallmark of diseases like cancer and microRNAs (miRNAs) play a key role in the modulation of translation efficiency. Known pre-miRNAs are listed in miRBase, and they have been discovered in a variety of organisms ranging from viruses and microbes to eukaryotic organisms. The computational detection of pre-miRNAs is of great interest, and such approaches usually employ machine learning to discriminate between miRNAs and other sequences. Many features have been proposed describing pre-miRNAs, and we have previously introduced the use of sequence motifs and k-mers as useful ones. There have been reports of xeno-miRNAs detected via next generation sequencing. However, they may be contaminations and to aid that important decision-making process, we aimed to establish a means to differentiate pre-miRNAs from different species. To achieve distinction into species, we used one species' pre-miRNAs as the positive and another species' pre-miRNAs as the negative training and test data for the establishment of machine learned models based on sequence motifs and k-mers as features. This approach resulted in higher accuracy values between distantly related species while species with closer relation produced lower accuracy values. We were able to differentiate among species with increasing success when the evolutionary distance increases. This conclusion is supported by previous reports of fast evolutionary changes in miRNAs since even in relatively closely related species a fairly good discrimination was possible.

Clinical features and epidemiology of cryptococcosis in cats and dogs in California: 93 cases (1988-2010).

PubMed

Trivedi, Sameer R; Sykes, Jane E; Cannon, Matthew S; Wisner, Erik R; Meyer, Wieland; Sturges, Beverly K; Dickinson, Peter J; Johnson, Lynelle R

2011-08-01

To compare clinical features of cryptococcosis among cats and dogs in California, determine whether the distribution of involved tissues differs from distribution reported previously in a study in southeastern Australia, and identify Cryptococcus spp isolated from the study population. Retrospective case series. 62 cats and 31 dogs with cryptococcosis. Medical records of cats and dogs with cryptococcosis were reviewed. Information collected included geographic location, species, signalment, and tissues or organs involved. Cryptococcosis was confirmed via serology, cytology, histology, or microbial culture, and molecular typing was performed. Odds ratios and 95% confidence intervals were calculated to determine significant associations among variables. Other comparisons were evaluated via χ(2) or unpaired t tests. American Cocker Spaniels were overrepresented, compared with other dog breeds. Serum cryptococcal antigen test results were positive in 51 of 53 cats and 15 of 18 dogs tested. Cryptococcus gattii was more commonly detected in cats (7/9 for which species identification was performed), and Cryptococcus neoformans was more commonly detected in dogs (6/8). Six of 7 C gattii isolates from cats were molecular type VGIII. Distribution of involved tissues was different between cats and dogs in California and between populations of the present study and those of the previously reported Australian study. Strains of Cryptococcus spp appeared to have host specificity in dogs and cats. Differences in lesion distribution between geographic locations may reflect strain differences or referral bias. Antigen assays alone may not be sufficient for diagnosis of cryptococcosis in cats and dogs.

Influence of social and built environment features on children walking to school: an observational study.

PubMed

Rothman, Linda; To, Teresa; Buliung, Ron; Macarthur, Colin; Howard, Andrew

2014-03-01

To estimate the proportion of children living within walking distance who walk to school in Toronto, Canada and identify built and social environmental correlates of walking. Observational counts of school travel mode were done in 2011, at 118 elementary schools. Built environment data were obtained from municipal sources and school field audits and mapped onto school attendance boundaries. The influence of social and built environmental features on walking counts was analyzed using negative binomial regression. The mean proportion observed walking was 67% (standard deviation=14.0). Child population (incidence rate ratio (IRR) 1.36), pedestrian crossover (IRR 1.32), traffic light (IRR 1.19), and intersection densities (IRR 1.03), school crossing guard (IRR 1.14) and primary language other than English (IRR 1.20) were positively correlated with walking. Crossing guard presence reduced the influence of other features on walking. This is the first large observational study examining school travel mode and the environment. Walking proportions were higher than those previously reported in Toronto, with large variability. Associations between population density and several roadway design features and walking were confirmed. School crossing guards may override the influence of roadway features on walking. Results have important implications for policies regarding walking promotion. Crown Copyright © 2013. Published by Elsevier Inc. All rights reserved.

Incorporating Feature-Based Annotations into Automatically Generated Knowledge Representations

NASA Astrophysics Data System (ADS)

Lumb, L. I.; Lederman, J. I.; Aldridge, K. D.

2006-12-01

Earth Science Markup Language (ESML) is efficient and effective in representing scientific data in an XML- based formalism. However, features of the data being represented are not accounted for in ESML. Such features might derive from events (e.g., a gap in data collection due to instrument servicing), identifications (e.g., a scientifically interesting area/volume in an image), or some other source. In order to account for features in an ESML context, we consider them from the perspective of annotation, i.e., the addition of information to existing documents without changing the originals. Although it is possible to extend ESML to incorporate feature-based annotations internally (e.g., by extending the XML schema for ESML), there are a number of complicating factors that we identify. Rather than pursuing the ESML-extension approach, we focus on an external representation for feature-based annotations via XML Pointer Language (XPointer). In previous work (Lumb &Aldridge, HPCS 2006, IEEE, doi:10.1109/HPCS.2006.26), we have shown that it is possible to extract relationships from ESML-based representations, and capture the results in the Resource Description Format (RDF). Thus we explore and report on this same requirement for XPointer-based annotations of ESML representations. As in our past efforts, the Global Geodynamics Project (GGP) allows us to illustrate with a real-world example this approach for introducing annotations into automatically generated knowledge representations.

[Changes in mammographic features of breast cancer--comparison with previous films].

PubMed

Matsunaga, T; Hagiwara, K; Kimura, K; Kusama, M

1992-11-25

Mammographic features of 87 breast cancer patients were studied in comparison with their previous survey films. Changes in the mammographic features included microcalicification (28 cases), tumor shadow (35 cases) and intratumorous microcalicifications (6 cases). Seven cases had several extremely faint calcifications on the previous films, and three of six cases with clustered and scattered microcalcifications that extended over an entire breast quadrant had increased in number, density and extent. Eight cases in which clustered microcalcifications had increased in number, density and extent suggested a relationship between the increase in the extent of microcalcifications and length of time between visits. In most cases with tumor shadow, a slight localized increase in mammary gland density, irregular margins and straightened trabeculae were overlooked because of breast density.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

PubMed Central

2013-01-01

Background Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported. Result We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication. Conclusion Our findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions. PMID:23639048

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

PubMed

Hemmat, Morteza; Hemmat, Omid; Anguiano, Arturo; Boyar, Fatih Z; El Naggar, Mohammed; Wang, Jia-Chi; Wang, Borris T; Sahoo, Trilochan; Owen, Renius; Haddadin, Mary

2013-05-02

Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported. We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication. Our findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions.

Evaluating depressive symptoms in mania: a naturalistic study of patients with bipolar disorder.

PubMed

Young, Allan H; Eberhard, Jonas

2015-01-01

This study aimed to evaluate patients with bipolar I disorder (BD-I) who have mania with depressive symptoms and who meet the new "with mixed features" specifier of the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). This prospective, multinational, naturalistic study surveyed psychiatrists and their patients with BD-I from October 2013 to March 2014. Eligible patients had BD-I, had a (current) manic episode, and had experienced onset of a manic episode within the previous 3 months. Psychiatrists provided patient information on depressive symptoms (DSM-5 criteria); symptoms of anxiety, irritability, and agitation; suicide attempts; and physician satisfaction with treatment response. Data were stratified according to whether patients met the criteria for the BD-I "with mixed features" specifier of DSM-5 (≥3 depressive symptoms) or not, and characteristics were compared between the two subgroups. Patients also self-reported on depressive symptoms using the Mini-International Neuropsychiatric Interview module questionnaire. Overall, 34% of 1,035 patients met the criteria for BD-I "with mixed features," exhibiting ≥3 depressive symptoms during their current manic episode. This correlated with the matched patient self-reports of depressive symptoms. During their current manic episode, BD-I patients "with mixed features" had more severe symptoms of anxiety, irritability, and agitation (average composite severity score of 4.1 vs 3.4), a higher incidence of suicide attempts (38% vs 9%), and more physician dissatisfaction with treatment response (22% vs 14%), compared to patients with 0-2 depressive symptoms (all P<0.05). This study found that patients with BD-I "with mixed features" (ie, ≥3 depressive symptoms during a manic episode), suffered, on average, from a greater burden of disease than patients with pure mania. Improved identification of these patients may help to optimize treatment outcomes.

New gravity anomaly map of Taiwan and its surrounding regions with some tectonic interpretations

NASA Astrophysics Data System (ADS)

Doo, Wen-Bin; Lo, Chung-Liang; Hsu, Shu-Kun; Tsai, Ching-Hui; Huang, Yin-Sheng; Wang, Hsueh-Fen; Chiu, Shye-Donq; Ma, Yu-Fang; Liang, Chin-Wei

2018-04-01

In this study, we compiled recently collected (from 2005 to 2015) and previously reported (published and open access) gravity data, including land, shipborne and satellite-derived data, for Taiwan and its surrounding regions. Based on the cross-over error analysis, all data were adjusted; and, new Free-air gravity anomalies were obtained, shedding light on the tectonics of the region. To obtain the Bouguer gravity anomalies, the densities of land terrain and marine sediments were assumed to be 2.53 and 1.80 g/cm3, respectively. The updated gravity dataset was gridded with a spacing of one arc-minute. Several previously unnoticed gravity features are revealed by the new maps and can be used in a broad range of applications: (1) An isolated gravity high is located between the Shoushan and the Kaoping Canyon off southwest Taiwan. (2) Along the Luzon Arc, both Free-air and Bouguer gravity anomaly maps reveal a significant gravity discontinuity feature at the latitude of 21°20‧N. (3) In the southwestern Okinawa Trough, the NE-SW trending cross-back-arc volcanic trail (CBVT) marks the low-high gravity anomaly (both Free-air and Bouguer) boundary.

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.

PubMed

Sethuraman, G; Fassihi, H; Ashton, G H S; Bansal, A; Kabra, M; Sharma, V K; McGrath, J A

2005-05-01

Kindler syndrome is an inherited skin condition that presents with blistering followed by photosensitivity and a progressive poikiloderma. The disorder results from mutations in the KIND1 gene, encoding the protein kindlin-1, a recently characterized 677-amino acid protein involved in anchorage of the actin cytoskeleton to the extracellular matrix. We report the clinical features of an 11-year-old boy with Kindler syndrome from a consanguineous Indian family and the identification of a homozygous nonsense mutation (C468X) in exon 12 of the KIND1 gene in his genomic DNA. This mutation has not been described previously but is similar to the 17 previously published KIND1 mutations that are all predicted to lead to loss of kindlin-1 protein expression and function. The clinical features in this boy highlight the relevance of kindlin-1 in skin biology, specifically to epidermal adhesion and response to acute and chronic sun exposure. Delineation of this new pathogenic mutation in KIND1 is also useful for genetic counselling in this family and in assessing carrier status in unaffected family members.

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.

PubMed

Fox, Robin; Ealing, John; Murphy, Helen; Gow, David P; Gosal, David

2016-09-01

DNA methyltransferase 1 (DNMT1) is an enzyme which has a role in methylation of DNA, gene regulation, and chromatin stability. Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). We report a case showing overlap of both of these syndromes plus associated clinical features of common variable immune deficiency, scleroderma, and endocrinopathy that could also be mutation associated. Our patient was found to be heterozygous for a previously unreported frameshift mutation, c.1635_1637delCAA p.(Asn545del) in the DNMT1 gene exon 20. This case displays both the first frameshift mutation described in the literature which is associated with a phenotype with a high degree of overlap between HSAN1E and ADCA-DN and early age of onset (c. 8 years). Our case is also of interest as the patient displays a number of new non-neurological features, which could also be DNMT1 mutation related. © 2016 Peripheral Nerve Society.

Precedence of the eye region in neural processing of faces

PubMed Central

Issa, Elias; DiCarlo, James

2012-01-01

SUMMARY Functional magnetic resonance imaging (fMRI) has revealed multiple subregions in monkey inferior temporal cortex (IT) that are selective for images of faces over other objects. The earliest of these subregions, the posterior lateral face patch (PL), has not been studied previously at the neurophysiological level. Perhaps not surprisingly, we found that PL contains a high concentration of ‘face selective’ cells when tested with standard image sets comparable to those used previously to define the region at the level of fMRI. However, we here report that several different image sets and analytical approaches converge to show that nearly all face selective PL cells are driven by the presence of a single eye in the context of a face outline. Most strikingly, images containing only an eye, even when incorrectly positioned in an outline, drove neurons nearly as well as full face images, and face images lacking only this feature led to longer latency responses. Thus, bottom-up face processing is relatively local and linearly integrates features -- consistent with parts-based models -- grounding investigation of how the presence of a face is first inferred in the IT face processing hierarchy. PMID:23175821

Direct observation of vast off-stoichiometric defects in single crystalline SnSe

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

Wu, Di; Wu, Lijun; He, Dongsheng

Single crystalline tin selenide (SnSe) recently emerged as a very promising thermoelectric material for waste heat harvesting and thermoelectric cooling, due to its record high figure of merit ZT in mediate temperature range. The most striking feature of SnSe lies in its extremely low lattice thermal conductivity as ascribed to the anisotropic and highly distorted Sn-Se bonds as well as the giant bond anharmonicity by previous studies, yet no theoretical models so far can give a quantitative explanation to such low a lattice thermal conductivity. Here, we presented direct observation of an astonishingly vast number of off-stoichiometric Sn vacancies andmore » Se interstitials, using sophisticated aberration corrected scanning transmission electron microscope; and credited the previously reported ultralow thermal conductivity of the SnSe single crystalline samples partly to their off-stoichiometric feature. In order to further validate the conclusion, we also synthesized stoichiometric SnSe single crystalline samples, and illustrated that the lattice thermal conductivity is deed much higher as compared with the off-stoichiometric single crystals. Finally, the scattering efficiency of individual point defect on heat-carrying phonons was then discussed in the state-of-art Debye-Callaway model.« less

Direct observation of vast off-stoichiometric defects in single crystalline SnSe

DOE PAGES

Wu, Di; Wu, Lijun; He, Dongsheng; ...

2017-04-06

Single crystalline tin selenide (SnSe) recently emerged as a very promising thermoelectric material for waste heat harvesting and thermoelectric cooling, due to its record high figure of merit ZT in mediate temperature range. The most striking feature of SnSe lies in its extremely low lattice thermal conductivity as ascribed to the anisotropic and highly distorted Sn-Se bonds as well as the giant bond anharmonicity by previous studies, yet no theoretical models so far can give a quantitative explanation to such low a lattice thermal conductivity. Here, we presented direct observation of an astonishingly vast number of off-stoichiometric Sn vacancies andmore » Se interstitials, using sophisticated aberration corrected scanning transmission electron microscope; and credited the previously reported ultralow thermal conductivity of the SnSe single crystalline samples partly to their off-stoichiometric feature. In order to further validate the conclusion, we also synthesized stoichiometric SnSe single crystalline samples, and illustrated that the lattice thermal conductivity is deed much higher as compared with the off-stoichiometric single crystals. Finally, the scattering efficiency of individual point defect on heat-carrying phonons was then discussed in the state-of-art Debye-Callaway model.« less

Vision Based Localization in Urban Environments

NASA Technical Reports Server (NTRS)

McHenry, Michael; Cheng, Yang; Matthies, Larry

2005-01-01

As part of DARPA's MARS2020 program, the Jet Propulsion Laboratory developed a vision-based system for localization in urban environments that requires neither GPS nor active sensors. System hardware consists of a pair of small FireWire cameras and a standard Pentium-based computer. The inputs to the software system consist of: 1) a crude grid-based map describing the positions of buildings, 2) an initial estimate of robot location and 3) the video streams produced by each camera. At each step during the traverse the system: captures new image data, finds image features hypothesized to lie on the outside of a building, computes the range to those features, determines an estimate of the robot's motion since the previous step and combines that data with the map to update a probabilistic representation of the robot's location. This probabilistic representation allows the system to simultaneously represent multiple possible locations, For our testing, we have derived the a priori map manually using non-orthorectified overhead imagery, although this process could be automated. The software system consists of two primary components. The first is the vision system which uses binocular stereo ranging together with a set of heuristics to identify features likely to be part of building exteriors and to compute an estimate of the robot's motion since the previous step. The resulting visual features and the associated range measurements are software component, a particle-filter based localization system. This system uses the map and the then fed to the second primary most recent results from the vision system to update the estimate of the robot's location. This report summarizes the design of both the hardware and software and will include the results of applying the system to the global localization of a robot over an approximately half-kilometer traverse across JPL'S Pasadena campus.

SPOT satellite mapping of Ice Stream B

NASA Technical Reports Server (NTRS)

Merry, Carolyn J.

1993-01-01

Numerous features of glaciological significance appear on two adjoining SPOT High Resolution Visible (HRV) images that cover the onset region of ice stream B. Many small-scale features, such as crevasses and drift plumes, have been previously observed in aerial photography. Subtle features, such as long flow traces that have not been mapped previously, are also clear in the satellite imagery. Newly discovered features include ladder-like runners and rungs within certain shear margins, flow traces that are parallel to ice flow, unusual crevasse patterns, and flow traces originating within shear margins. An objective of our work is to contribute to an understanding of the genesis of the features observed in satellite imagery. The genetic possibilities for flow traces, other lineations, bands of transverse crevasses, shear margins, mottles, and lumps and warps are described.

A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses.

PubMed

Hibbert, Sally

2005-02-01

Atypical dentofacial structures may be the first indicator of other anomalies linked to a syndrome. This case describes the management of a 9-year-old girl referred for the routine management of supernumerary teeth. The anomalous form of her teeth, together with multiple supernumerary units and a history of congenital cataracts, were suggestive of a diagnosis of Nance-Horan syndrome. This is an X-linked disorder, in which females usually demonstrate mild expression; this case was unusual in respect to the marked phenotype expressed. Unusually, the girl developed 2 spontaneous abscesses of her noncarious upper incisor teeth; a feature never previously described in this syndrome. This report details the patient's dental management and discusses the possible pathogenesis of the dental abscesses, together with the genetic implications of this syndrome.

The complete larval development of the mud shrimp Upogebia vasquezi (Gebiidea: Upogebiidae) reared in the laboratory.

PubMed

De Oliveira, Danielly Brito; Martinelli-Lemos, Jussara Moretto; Abrunhosa, Fernando Araújo

2014-07-01

The larval development of Upogebia vasquezi consists of four zoeal stages and a megalopa. In the present study, each larval stage was described and illustrated in detail. The first two stages are re-described in order to provide a detailed comparison with the data available for this species recorded in a previous study. The morphological features of all the stages are compared with those of the larvae of other Upogebia species reported previously in the literature. Broad morphological similarities and distinctions were found among most Upogebia species. The main interspecific variations in the morphology of the zoeal stages are the segmentation pattern of the antennular endopod and number of aesthetascs, the number of setae on the scaphognathite and the presence or absence of a mandibular palp.

Fluorescent recovery after photobleaching (FRAP) analysis of nuclear export rates identifies intrinsic features of nucleocytoplasmic transport.

PubMed

Cardarelli, Francesco; Tosti, Luca; Serresi, Michela; Beltram, Fabio; Bizzarri, Ranieri

2012-02-17

A quantitative description of carrier-mediated nuclear export in live cells is presented. To this end, we fused a prototypical leucine-rich nuclear export signal (NES) to GFP as a cargo model and expressed the fluorescent chimera in live CHO-K1 cells. By modeling FRAP data, we calculate the NES affinity for the export machinery and the maximum rate of nuclear export achievable at saturation of endogenous carriers. The measured active-export time through the Nuclear Pore Complex (NPC) is 18 ms, remarkably similar to the previously determined active-import rate. Also, our results reveal that active export/import and active export/passive diffusion fluxes are uncoupled, thus complementing previous reports on active import/passive diffusion uncoupling. These findings suggest differential gating at the NPC level.

Thrust imbalance of solid rocket motor pairs on Space Shuttle flights

NASA Technical Reports Server (NTRS)

Foster, W. A., Jr.; Shu, P. H.; Sforzini, R. H.

1986-01-01

This analysis extends the investigation presented at the 17th Joint Propulsion Conference in 1981 to include fifteen sets of Space Shuttle flight data. The previous report dealt only with static test data and the first flight pair. The objective is to compare the authors' previous theoretical analysis of thrust imbalance with actual Space Shuttle performance. The theoretical prediction method, which involves a Monte Carlo technique, is reviewed briefly as are salient features of the flight instrumentation system and the statistical analysis. A scheme for smoothing flight data is discussed. The effects of changes in design parameters are discussed with special emphasis on the filament wound motor case being developed to replace the steel case. Good agreement between the predictions and the flight data is demonstrated.

Morphology and phylogeny of Triadinium polyedricum (Pouchet) Dodge (Dinophyceae) from Korean coastal waters

NASA Astrophysics Data System (ADS)

Shin, Hyeon Ho; Li, Zhun; Kim, Eun Song; Youn, Joo Yeon; Jeon, Seul Gi; Oh, Seok Jin; Lim, Weol-Ae

2016-12-01

To identify features that can be used to differentiate Triadinium polyedricum from other related species, such as Fukuyoa paulensis and Alexandrium species, the detailed morphology and phylogeny of T. polyedricum collected from Korean coastal waters were investigated. The cells had a plate formula of Po, 3', 7″, 5‴, 1p and 2″″, which is consistent with morphological descriptions in previous reports. Large subunit ribosomal DNA sequences also revealed that T. polyedricum from Korean coastal waters is identical to previously recorded isolates. T. polyedricum is morphologically characterized by a ventral pore in the 1″ plate that is comparable to F. paulensis and Alexandrium species. This result indicates that the location and presence of this ventral pore seems suitable for differentiating T. polyedricum from other related species.

Automated social skills training with audiovisual information.

PubMed

Tanaka, Hiroki; Sakti, Sakriani; Neubig, Graham; Negoro, Hideki; Iwasaka, Hidemi; Nakamura, Satoshi

2016-08-01

People with social communication difficulties tend to have superior skills using computers, and as a result computer-based social skills training systems are flourishing. Social skills training, performed by human trainers, is a well-established method to obtain appropriate skills in social interaction. Previous works have attempted to automate one or several parts of social skills training through human-computer interaction. However, while previous work on simulating social skills training considered only acoustic and linguistic features, human social skills trainers take into account visual features (e.g. facial expression, posture). In this paper, we create and evaluate a social skills training system that closes this gap by considering audiovisual features regarding ratio of smiling, yaw, and pitch. An experimental evaluation measures the difference in effectiveness of social skill training when using audio features and audiovisual features. Results showed that the visual features were effective to improve users' social skills.

Learning Motion Features for Example-Based Finger Motion Estimation for Virtual Characters

NASA Astrophysics Data System (ADS)

Mousas, Christos; Anagnostopoulos, Christos-Nikolaos

2017-09-01

This paper presents a methodology for estimating the motion of a character's fingers based on the use of motion features provided by a virtual character's hand. In the presented methodology, firstly, the motion data is segmented into discrete phases. Then, a number of motion features are computed for each motion segment of a character's hand. The motion features are pre-processed using restricted Boltzmann machines, and by using the different variations of semantically similar finger gestures in a support vector machine learning mechanism, the optimal weights for each feature assigned to a metric are computed. The advantages of the presented methodology in comparison to previous solutions are the following: First, we automate the computation of optimal weights that are assigned to each motion feature counted in our metric. Second, the presented methodology achieves an increase (about 17%) in correctly estimated finger gestures in comparison to a previous method.

Jet-like features near the Nucleus of Chiron

NASA Technical Reports Server (NTRS)

Elliot, J. L.; Olkin, C. B.; Dunham, E. W.; Ford, C. H.; Gilmore, D. K.; Kurtz, D.; Lazzaro, D.; Rank, D. M.; Temi, P.; Bandyopadhyay, R. M.;

Deep Convolutional and LSTM Recurrent Neural Networks for Multimodal Wearable Activity Recognition.

PubMed

Ordóñez, Francisco Javier; Roggen, Daniel

2016-01-18

Human activity recognition (HAR) tasks have traditionally been solved using engineered features obtained by heuristic processes. Current research suggests that deep convolutional neural networks are suited to automate feature extraction from raw sensor inputs. However, human activities are made of complex sequences of motor movements, and capturing this temporal dynamics is fundamental for successful HAR. Based on the recent success of recurrent neural networks for time series domains, we propose a generic deep framework for activity recognition based on convolutional and LSTM recurrent units, which: (i) is suitable for multimodal wearable sensors; (ii) can perform sensor fusion naturally; (iii) does not require expert knowledge in designing features; and (iv) explicitly models the temporal dynamics of feature activations. We evaluate our framework on two datasets, one of which has been used in a public activity recognition challenge. Our results show that our framework outperforms competing deep non-recurrent networks on the challenge dataset by 4% on average; outperforming some of the previous reported results by up to 9%. Our results show that the framework can be applied to homogeneous sensor modalities, but can also fuse multimodal sensors to improve performance. We characterise key architectural hyperparameters' influence on performance to provide insights about their optimisation.

Fractal feature of sEMG from Flexor digitorum superficialis muscle correlated with levels of contraction during low-level finger flexions.

PubMed

Arjunan, Sridhar P; Kumar, Dinesh K; Naik, Ganesh R

2010-01-01

This research paper reports an experimental study on identification of the changes in fractal properties of surface Electromyogram (sEMG) with the changes in the force levels during low-level finger flexions. In the previous study, the authors have identified a novel fractal feature, Maximum fractal length (MFL) as a measure of strength of low-level contractions and has used this feature to identify various wrist and finger movements. This study has tested the relationship between the MFL and force of contraction. The results suggest that changes in MFL is correlated with the changes in contraction levels (20%, 50% and 80% maximum voluntary contraction (MVC)) during low-level muscle activation such as finger flexions. From the statistical analysis and by visualisation using box-plot, it is observed that MFL (p ≈ 0.001) is a more correlated to force of contraction compared to RMS (p≈0.05), even when the muscle contraction is less than 50% MVC during low-level finger flexions. This work has established that this fractal feature will be useful in providing information about changes in levels of force during low-level finger movements for prosthetic control or human computer interface.

Sci-Fin: Visual Mining Spatial and Temporal Behavior Features from Social Media

PubMed Central

Pu, Jiansu; Teng, Zhiyao; Gong, Rui; Wen, Changjiang; Xu, Yang

2016-01-01

Check-in records are usually available in social services, which offer us the opportunity to capture and analyze users’ spatial and temporal behaviors. Mining such behavior features is essential to social analysis and business intelligence. However, the complexity and incompleteness of check-in records bring challenges to achieve such a task. Different from the previous work on social behavior analysis, in this paper, we present a visual analytics system, Social Check-in Fingerprinting (Sci-Fin), to facilitate the analysis and visualization of social check-in data. We focus on three major components of user check-in data: location, activity, and profile. Visual fingerprints for location, activity, and profile are designed to intuitively represent the high-dimensional attributes. To visually mine and demonstrate the behavior features, we integrate WorldMapper and Voronoi Treemap into our glyph-like designs. Such visual fingerprint designs offer us the opportunity to summarize the interesting features and patterns from different check-in locations, activities and users (groups). We demonstrate the effectiveness and usability of our system by conducting extensive case studies on real check-in data collected from a popular microblogging service. Interesting findings are reported and discussed at last. PMID:27999398

Sci-Fin: Visual Mining Spatial and Temporal Behavior Features from Social Media.

PubMed

Pu, Jiansu; Teng, Zhiyao; Gong, Rui; Wen, Changjiang; Xu, Yang

2016-12-20

Check-in records are usually available in social services, which offer us the opportunity to capture and analyze users' spatial and temporal behaviors. Mining such behavior features is essential to social analysis and business intelligence. However, the complexity and incompleteness of check-in records bring challenges to achieve such a task. Different from the previous work on social behavior analysis, in this paper, we present a visual analytics system, Social Check-in Fingerprinting (Sci-Fin), to facilitate the analysis and visualization of social check-in data. We focus on three major components of user check-in data: location, activity, and profile. Visual fingerprints for location, activity, and profile are designed to intuitively represent the high-dimensional attributes. To visually mine and demonstrate the behavior features, we integrate WorldMapper and Voronoi Treemap into our glyph-like designs. Such visual fingerprint designs offer us the opportunity to summarize the interesting features and patterns from different check-in locations, activities and users (groups). We demonstrate the effectiveness and usability of our system by conducting extensive case studies on real check-in data collected from a popular microblogging service. Interesting findings are reported and discussed at last.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

PubMed

López-González, V; Domingo-Jiménez, M R; Burglen, L; Ballesta-Martínez, M J; Whalen, S; Piñero-Fernández, J A; Guillén-Navarro, E

2015-01-01

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date. The case is reported of a 4 and a half year-old male patient, affected by SGS. SETBP1 sequencing analysis revealed the presence of a non-previously described mutation: c.2608G>T (p.Gly870Cys). The clinical features and differential diagnosis of this rare condition are reviewed. Dysmorphic features are strongly suggestive of SGS. Its clinical recognition is essential to enable an early diagnosis, a proper follow-up, and to provide the family with genetic counseling. To date, this is the seventeenth SGS patient published with SETBP1 mutation, and the first in Spain, helping to widen clinical and molecular knowledge of the disease. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Studies of thermal wave phenomena on the Jovian planets

NASA Technical Reports Server (NTRS)

Deming, Drake

1991-01-01

Ground based and Voyager observations of Jupiter have provided evidence that the tropospheric temperature shows global scale longitudinal variations which are often wavelike in character. Voyager data are reported to exhibit the presence of slowly moving thermal features, wherein the jovian tropospheric temperature patterns are not advected by the equatorial zonal winds, but are not found to rotate at the System III (interior) rate. Ground based data in a broad infrared band (8 to 13 micron) show a wavelike structure whose amplitude and spatial scale are similar to the reported properties of the slowly moving thermal features. This study is directed toward obtaining additional ground based data in infrared spectral bands whose contribution functions are optimized for specific atmospheric regions (tropospheric at 20 micron, and stratospheric at 7.8 micron), in order to confirm the previous results, and to identify the nature and physical significance of wavelike longitudinal temperature fluctuations on the Jovian planets. A 2-D infrared array detector and low resolution cryogenic grating spectrometer is being adapted to obtain maps in approx. 2/cm bandpasses.

Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma.

PubMed

Furney, Simon J; Turajlic, Samra; Stamp, Gordon; Nohadani, Mahrokh; Carlisle, Anna; Thomas, J Meirion; Hayes, Andrew; Strauss, Dirk; Gore, Martin; van den Oord, Joost; Larkin, James; Marais, Richard

2013-07-01

Mucosal melanoma displays distinct clinical and epidemiological features compared to cutaneous melanoma. Here we used whole genome and whole exome sequencing to characterize the somatic alterations and mutation spectra in the genomes of ten mucosal melanomas. We observed somatic mutation rates that are considerably lower than occur in sun-exposed cutaneous melanoma, but comparable to the rates seen in cancers not associated with exposure to known mutagens. In particular, the mutation signatures are not indicative of ultraviolet light- or tobacco smoke-induced DNA damage. Genes previously reported as mutated in other cancers were also mutated in mucosal melanoma. Notably, there were substantially more copy number and structural variations in mucosal melanoma than have been reported in cutaneous melanoma. Thus, mucosal and cutaneous melanomas are distinct diseases with discrete genetic features. Our data suggest that different mechanisms underlie the genesis of these diseases and that structural variations play a more important role in mucosal than in cutaneous melanomagenesis. Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Spanish Heart Transplant Registry. 28th Official Report of the Spanish Society of Cardiology Working Group on Heart Failure (1984-2016).

PubMed

González-Vílchez, Francisco; Gómez-Bueno, Manuel; Almenar-Bonet, Luis; Crespo-Leiro, María G; Arizón Del Prado, José M; Delgado-Jiménez, Juan; Sousa-Casasnovas, Iago; Brossa-Loidi, Vicens; Sobrino-Márquez, José Manuel; González-Costelo, José

2017-12-01

The present article reports the characteristics and results of heart transplants in Spain since this therapeutic modality was first used in May 1984. We summarize the main features of recipients, donors, surgical procedures, and outcomes of all cardiac transplants performed in Spain up to December 31, 2016. A total of 281 cardiac transplants were performed in 2016. The whole historical series consisted of 7869 procedures. The main features of transplant procedures in 2016 were similar to those observed in recent years. A high percentage of procedures were urgent, particularly those with use of pretransplant continuous-flow left ventricular assist devices (19.1% of all transplants). Survival significantly improved in the last decade compared with previous periods. During the last few years, transplant activity in Spain has remained steady, with approximately 250-300 transplants/year. Despite a more complex clinical context, survival has improved in recent years. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

High-resolution, vacuum-ultraviolet absorption spectrum of boron trifluoride

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

Hughes, Patrick P.; Thompson, Alan K.; Vest, Robert E.

2014-11-21

In the course of investigations of thermal neutron detection based on mixtures of {sup 10}BF{sub 3} with other gases, knowledge was required of the photoabsorption cross sections of {sup 10}BF{sub 3} for wavelengths between 135 and 205 nm. Large discrepancies in the values reported in existing literature led to the absolute measurements reported in this communication. The measurements were made at the SURF III Synchrotron Ultraviolet Radiation Facility at the National Institute of Standards and Technology. The measured absorption cross sections vary from 10{sup −20} cm{sup 2} at 135 nm to less than 10{sup −21} cm{sup 2} in the regionmore » from 165 to 205 nm. Three previously unreported absorption features with resolvable structure were found in the regions 135–145 nm, 150–165 nm, and 190–205 nm. Quantum mechanical calculations, using the TD-B3LYP/aug-cc-pVDZ variant of time-dependent density functional theory implemented in Gaussian 09, suggest that the observed absorption features arise from symmetry-changing adiabatic transitions.« less

Evaluating molecular cobalt complexes for the conversion of N2 to NH3.

PubMed

Del Castillo, Trevor J; Thompson, Niklas B; Suess, Daniel L M; Ung, Gaël; Peters, Jonas C

2015-10-05

Well-defined molecular catalysts for the reduction of N2 to NH3 with protons and electrons remain very rare despite decades of interest and are currently limited to systems featuring molybdenum or iron. This report details the synthesis of a molecular cobalt complex that generates superstoichiometric yields of NH3 (>200% NH3 per Co-N2 precursor) via the direct reduction of N2 with protons and electrons. While the NH3 yields reported herein are modest by comparison to those of previously described iron and molybdenum systems, they intimate that other metals are likely to be viable as molecular N2 reduction catalysts. Additionally, a comparison of the featured tris(phosphine)borane Co-N2 complex with structurally related Co-N2 and Fe-N2 species shows how remarkably sensitive the N2 reduction performance of potential precatalysts is. These studies enable consideration of the structural and electronic effects that are likely relevant to N2 conversion activity, including the π basicity, charge state, and geometric flexibility.

Flexible black phosphorus ambipolar transistors, circuits and AM demodulator.

PubMed

Zhu, Weinan; Yogeesh, Maruthi N; Yang, Shixuan; Aldave, Sandra H; Kim, Joon-Seok; Sonde, Sushant; Tao, Li; Lu, Nanshu; Akinwande, Deji

2015-03-11

High-mobility two-dimensional (2D) semiconductors are desirable for high-performance mechanically flexible nanoelectronics. In this work, we report the first flexible black phosphorus (BP) field-effect transistors (FETs) with electron and hole mobilities superior to what has been previously achieved with other more studied flexible layered semiconducting transistors such as MoS2 and WSe2. Encapsulated bottom-gated BP ambipolar FETs on flexible polyimide afforded maximum carrier mobility of about 310 cm(2)/V·s with field-effect current modulation exceeding 3 orders of magnitude. The device ambipolar functionality and high-mobility were employed to realize essential circuits of electronic systems for flexible technology including ambipolar digital inverter, frequency doubler, and analog amplifiers featuring voltage gain higher than other reported layered semiconductor flexible amplifiers. In addition, we demonstrate the first flexible BP amplitude-modulated (AM) demodulator, an active stage useful for radio receivers, based on a single ambipolar BP transistor, which results in audible signals when connected to a loudspeaker or earphone. Moreover, the BP transistors feature mechanical robustness up to 2% uniaxial tensile strain and up to 5000 bending cycles.

Biliary Fasciola gigantica infestation in a nonendemic area--An intraoperative surprise.

PubMed

Menon, Prema; Sinha, Amit Kumar; Rao, Katragadda Lakshmi Narasimha; Khurana, Sumeeta; Lal, Sadhana; Thapa, Babu Ram

2015-11-01

A 7year old girl infected with the zoonotic trematode, Fasciola gigantica is reported because of the extreme rarity of this condition in our region. Because of the overlap in symptomatology and radiological features, the more common amebic/pyogenic liver abscess in the initial hepatic migratory phase and later choledochal cyst/biliary ascariasis when the parasite was finally located in the extrahepatic bile ducts, were thought of delaying effective treatment. The diagnosis was confirmed only by surgical exploration. The characteristic contrast enhanced computed tomography scan features retrospectively identified were multiple clustered hypodense lesions in the liver with peripheral enhancement in the acute hepatic migratory phase, and periportal tracking in the previously affected areas of the liver with biliary dilatation and a linear hypointense lesion within the common bile duct in the chronic phase. Although a known association, she did not have eosinophilia. This child, who became symptomatic at the age of 5.5years, also appears to be one of the youngest patients reported with Fasciola gigantica. Copyright © 2015 Elsevier Inc. All rights reserved.

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

PubMed

Adam, Margaret P; Hennekam, Raoul C M; Keppen, Laura Davis; Bull, Marilyn J; Clericuzio, Carol L; Burke, Leah W; Ormond, Kelly E; Hoyme, Eugene H

2005-08-30

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. (c) 2005 Wiley-Liss, Inc.

Development and testing of the infrared interferometer spectrometer for the Mariner Mars 1971 spacecraft

NASA Technical Reports Server (NTRS)

Hanel, R. H.; Schlachman, B.; Vanous, D.; Rogers, D.; Taylor, J. H.

1971-01-01

The design, development and testing of the infrared interferometer spectrometer is reported with emphasis on the unique features of the Mariner instrument as compared to previous IRIS instruments flown on the Nimbus meteorological research satellites. The interferometer functions in the spectral range from 50 microns to 6.3 microns. A noise equivalent radiance of 0.5 X 10 to the -7th power W/sq cm/ster/cm has been achieved. Major improvements that were implemented included the cesium iodide beamsplitter and electronic features to suppress the effect of vibration on the Michelson mirror motion and digital filtering through the summation of increased sampling of the infrared signal. A bit error detection and correction scheme was also implemented in order to recover the science data with a higher level of confidence over the telecommunication link.

Attention and apparent motion.

PubMed

Horowitz, T; Treisman, A

1994-01-01

Two dissociations between short- and long-range motion in visual search are reported. Previous research has shown parallel processing for short-range motion and apparently serial processing for long-range motion. This finding has been replicated and it has also been found that search for short-range targets can be impaired both by using bicontrast stimuli, and by prior adaptation to the target direction of motion. Neither factor impaired search in long-range motion displays. Adaptation actually facilitated search with long-range displays, which is attributed to response-level effects. A feature-integration account of apparent motion is proposed. In this theory, short-range motion depends on specialized motion feature detectors operating in parallel across the display, but subject to selective adaptation, whereas attention is needed to link successive elements when they appear at greater separations, or across opposite contrasts.

Dedifferentiated liposarcoma of the lower extremity with low-grade dedifferentiation and low-grade osteosarcomatous component.

PubMed

Zajicek, Anna K; Bridge, Julia A; Akers, Joshua W; McGarry, Sean V; Walker, Craig W

2017-02-01

Dedifferentiated liposarcoma can arise de novo or as a complication of a preexisting well-differentiated liposarcoma. We describe the radiologic and pathologic features of a long-standing liposarcoma with multiple recurrences in a 59-year-old male. Imaging demonstrated a heterogeneous fat-containing mass in the anterior thigh. The adjacent proximal femur showed irregular cortical new bone, eventually followed by intramedullary osteoblastic involvement and pathologic fracture. Histologic assessment at resection revealed dedifferentiated liposarcoma with low-grade osteosarcomatous component. The patient subsequently developed metastatic lesions in the lungs containing osteoid and osteoblastic bone metastases. We discuss the radiologic and pathologic features of this rare entity that, to our knowledge, has previously been reported to directly involve osseous structures in only one other case and discuss the potential pitfalls in diagnosis.

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

PubMed

Tekin, M; Bodurtha, J N; Nance, W E; Pandya, A

2001-10-01

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndrome.

PubMed

Saito, Reiko; Yamamoto, Yukiyo; Goto, Motohide; Araki, Shunsuke; Kubo, Kazuyasu; Kawagoe, Rinko; Kawada, Yasusada; Kusuhara, Koichi; Igarashi, Maki; Fukami, Maki

2014-01-01

Although tamoxifen has been shown to be fairly safe and effective for idiopathic pubertal gynecomastia, it remains unknown whether it is also beneficial for gynecomastia associated with endocrine disorders. Here, we report the effect of tamoxifen on pubertal gynecomastia in 2 siblings with partial androgen insensitivity syndrome (PAIS). Cases 1 and 2 presented with persistent pubertal gynecomastia at 13 and 16 years of age, respectively. Physical examinations revealed breast of Tanner stage 3 and normal male-type external genitalia in both cases. Clinical features such as female-type pubic hair and borderline small testis indicated mildly impaired masculinization. Molecular analysis identified a previously reported p.Arg789Ser mutation in the androgen receptor gene (AR) in the 2 cases. Two months of oral administration of tamoxifen ameliorated gynecomastia to Tanner stage 2 with no adverse events. Additional treatment with testosterone enanthate showed negligible effects on body hair and penile length. Hormone values of the 2 cases during tamoxifen treatment remained similar to those in previously reported untreated patients with PAIS. The results indicate that tamoxifen was effective in treating pubertal gynecomastia in these 2 patients with PAIS and may be considered as a therapeutic option in this situation pending further studies.

Change Detection in Uav Video Mosaics Combining a Feature Based Approach and Extended Image Differencing

NASA Astrophysics Data System (ADS)

Saur, Günter; Krüger, Wolfgang

2016-06-01

Change detection is an important task when using unmanned aerial vehicles (UAV) for video surveillance. We address changes of short time scale using observations in time distances of a few hours. Each observation (previous and current) is a short video sequence acquired by UAV in near-Nadir view. Relevant changes are, e.g., recently parked or moved vehicles. Examples for non-relevant changes are parallaxes caused by 3D structures of the scene, shadow and illumination changes, and compression or transmission artifacts. In this paper we present (1) a new feature based approach to change detection, (2) a combination with extended image differencing (Saur et al., 2014), and (3) the application to video sequences using temporal filtering. In the feature based approach, information about local image features, e.g., corners, is extracted in both images. The label "new object" is generated at image points, where features occur in the current image and no or weaker features are present in the previous image. The label "vanished object" corresponds to missing or weaker features in the current image and present features in the previous image. This leads to two "directed" change masks and differs from image differencing where only one "undirected" change mask is extracted which combines both label types to the single label "changed object". The combination of both algorithms is performed by merging the change masks of both approaches. A color mask showing the different contributions is used for visual inspection by a human image interpreter.

High Resolution Integral Field Spectroscopy of Europa's Sodium Clouds: Evidence for a Component with Origins in Iogenic Plasma.

NASA Astrophysics Data System (ADS)

Schmidt, C.; Johnson, R. E.; Mendillo, M.; Baumgardner, J. L.; Moore, L.; O'Donoghue, J.; Leblanc, F.

2015-12-01

With the object of constraining Iogenic contributions and identifying drivers for variability, we report new observations of neutral sodium in Europa's exosphere. An R~20000 integral field spectrograph at McDonald Observatory is used to generate Doppler maps of sodium cloud structures with a resolution of 2.8 km/s/pixel. In the five nights of observations since 2011, measurements on UT 6.15-6.31 May 2015 uniquely feature fast (10s of km/s) neutral sodium clouds extending nearly 100 Europa radii, more distant than in any previous findings. During these measurements, the satellite geometry was favorable for the transfer of Na from Io to Europa, located at 1:55 to 4:00 and 3:38 to 4:39 Jovian local time, respectively. Eastward emission (away from Jupiter) extends 10-20 Europa radii retaining the moon's rest velocity, while westward emission blue-shifts with distance, and a broad range of velocities are measured, reaching at least 70 km/s at 80 Europa radii. These cloud features are distinct from Io's "banana" and "stream" features, the distant Jupiter-orbiting nebula, and from terrestrial OH and Na contaminant emissions. Io's production was quiescent during this observation, following an extremely active phase in February 2015. These results are consistent with previous findings that Europa's Na exosphere has peak emission between midnight and dawn Jovian local time and support the idea that sodium escape from Io can significantly enhance the emission intensity measured at Europa.

Clinical and epidemiological features of leishmaniasis in northwestern-Argentina through a retrospective analysis of recent cases.

PubMed

García Bustos, María F; González-Prieto, Gabriela; Ramos, Federico; Mora, María C; Hashiguchi, Yoshihisa; Parodi, Cecilia; Basombrío, Miguel A; Moreno, Sonia; Monroig, Sibila; Beckar, Josefina; Jaime, Daniela; Sajama, Jesús; Yeo, Matthew; Marco, Jorge D; Locatelli, Fabricio M; Barrio, Alejandra

2016-02-01

Leishmaniasis is a parasitic disease caused by hemoflagellates of the genus Leishmania and is transmitted to humans by the bite of infected phlebotomine sandflies. Depending on the Leishmania species, the disease has different clinical forms including cutaneous, mucocutaneous, and visceral manifestations. Previous studies performed in endemic zones of northwestern-Argentina, during epidemic outbreaks, have been important for detecting patients suffering from the acute phase of the disease, but have not given a complete representation of the clinical and epidemiological features in the region. Furthermore, due to the resurgence of leishmaniasis worldwide and in particular the large increase of international tourism to the region, it seems pertinent to update the current epidemiological and clinical profile of leishmaniasis in northwestern-Argentina. Here we present a retrospective analysis of 95 Leishmania positive cases, presenting between 2000 and 2014. Patients were derived from hospitals and diagnosed in our lab at the University of Salta, located in a non-endemic area in Salta, Argentina. We detected numerous extensive mucocutaneous cases (34/95, 35.8%) distinct from mucosal affected patients, some instances originating in locations with no previously reported human cases. Additionally patients suffering from concomitant diseases, besides leishmaniasis, were assessed. These included Chagas disease, syphilis, deep mycoses, tuberculosis, toxoplasmosis and intestinal parasitosis. This study updates the clinical and epidemiological features of leishmaniasis in northwestern-Argentina, and discusses the implications and management strategy for patients who acquire the disease in this region. Copyright © 2015 Elsevier B.V. All rights reserved.

Predicting Cortical Dark/Bright Asymmetries from Natural Image Statistics and Early Visual Transforms

PubMed Central

Cooper, Emily A.; Norcia, Anthony M.

2015-01-01

The nervous system has evolved in an environment with structure and predictability. One of the ubiquitous principles of sensory systems is the creation of circuits that capitalize on this predictability. Previous work has identified predictable non-uniformities in the distributions of basic visual features in natural images that are relevant to the encoding tasks of the visual system. Here, we report that the well-established statistical distributions of visual features -- such as visual contrast, spatial scale, and depth -- differ between bright and dark image components. Following this analysis, we go on to trace how these differences in natural images translate into different patterns of cortical input that arise from the separate bright (ON) and dark (OFF) pathways originating in the retina. We use models of these early visual pathways to transform natural images into statistical patterns of cortical input. The models include the receptive fields and non-linear response properties of the magnocellular (M) and parvocellular (P) pathways, with their ON and OFF pathway divisions. The results indicate that there are regularities in visual cortical input beyond those that have previously been appreciated from the direct analysis of natural images. In particular, several dark/bright asymmetries provide a potential account for recently discovered asymmetries in how the brain processes visual features, such as violations of classic energy-type models. On the basis of our analysis, we expect that the dark/bright dichotomy in natural images plays a key role in the generation of both cortical and perceptual asymmetries. PMID:26020624

New Results on Hydration in M-Type Asteroids

NASA Astrophysics Data System (ADS)

Landsman, Zoe A.; Campins, Humberto; Pinilla-Alonso, Noemí; Emery, Joshua P.; Lorenzi, Vania

2014-11-01

The M-type asteroids are a taxonomic group considered to be a candidate source of iron meteorites due to spectral and albedo similarities; however, because the spectra of M-type asteroids lack strong diagnostic absorption features in the near-infrared (NIR), their composition is difficult to constrain. High-resolution NIR spectroscopy and radar studies have shown that a metallic interpretation is unlikely to be valid for the majority of M-types. Many show weak absorption features attributed to mafic silicates (Hardersen et al. 2005, 2011; Ockert-Bell et al. 2010; Fornasier et al. 2010). Radar results show evidence for elevated metal content on the surfaces of most M-type asteroids, but few are likely to be entirely metal (Shepard et al. 2010). Surprisingly, spectrophotometric studies in the 3-μm region have indicated that hydrated minerals are relatively common among the M-type population, confounding interpretations of M-types as highly thermally processed (Rivkin et al. 1995, 2000). The shape of the 3-μm band, diagnostic of hydrated and hydroxylated minerals, is relevant to an asteroid’s thermal history (Rivkin et al. 2002, Takir & Emery 2012). To characterize this region, we have conducted a 2 - 4 μm spectroscopic study of six M-type asteroids using SpeX at NASA’s Infrared Telescope Facility. In its LXD mode, SpeX allows us to investigate the 3-μm band at spectral resolutions unavailable during previously published studies. We report the presence of a 3-μm feature on all six asteroids, indicating hydrated minerals on the asteroids’ surfaces. We have also detected rotational variability of the 3-μm feature in asteroid (216) Kleopatra, which, interestingly, had been interpreted as “dry” in previous work (Rivkin et al. 2000). On all of our target asteroids, the 3-μm band depths are < 10%, and there is apparent variation in the shape of the feature among them. We discuss the impact of our results on interpretations of M-type asteroid composition.

An unusual osteomyelitis caused by Moraxella osloensis: A case report.

PubMed

Alkhatib, Nidal J; Younis, Manaf H; Alobaidi, Ahmad S; Shaath, Nebal M

2017-01-01

Moraxella osloensis is a gram-negative coccobacillus, that is saprophytic on skin and mucosa, and rarely causing human infections. Reported cases of human infections usually occur in immunocompromised patients. We report the second case of M. osloensis-caused-osteomyelitis in literature, occurring in a young healthy man. The organism was identified by sequencing analysis of the 16S ribosomal RNA gene. Our patient was treated successfully with surgical debridement and intravenous third-generation cephalosporins. M. osloensis has been rarely reported to cause local or invasive infections. Our case report is the second case in literature and it is different from the previously reported case in that our patient has no chronic medical problems, no history of trauma, with unique presentation and features on the MRI and intraoperative finding. Proper diagnosis is essential for appropriate treatment of osteomyelitis. RNA gene sequence analysis is the primary method of M. osloensis diagnosis. M. osloensis is usually susceptible to simple antibiotics. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

Finger drop sign-Characteristic pattern of distal weakness in Guillain-Barré Syndrome: A case report and review of the literature.

PubMed

Chee, Yong Chuan; Ong, Beng Hooi

2018-01-01

Guillain-Barré Syndrome is an acquired acute autoimmune polyradiculoneuropathy that commonly presents with limb weakness and occasional cranial nerve, respiratory and autonomic involvement. Although the classic description of Guillain-Barré Syndrome is that of a demyelinating neuropathy with ascending weakness, predominant bilateral finger drop as presenting feature has rarely been reported. A characteristic pattern of weakness involving the extensor components of the fingers known as "finger drop sign" has been first described to be specific in acute motor axonal neuropathy form of Guillain-Barré Syndrome in the literature. We report a case of acute motor-sensory axonal neuropathy, which showed characteristic pattern of predominant finger extensor weakness, and provide a summary of all reported cases to date. While previous reports suggested that this is a sign that carries good prognosis, our case report suggested otherwise as the patient succumbed to respiratory and autonomic complications. Further studies are needed to evaluate the clinical significance of this peculiar sign.

Classifying transcription factor targets and discovering relevant biological features

PubMed Central

Holloway, Dustin T; Kon, Mark; DeLisi, Charles

2008-01-01

Background An important goal in post-genomic research is discovering the network of interactions between transcription factors (TFs) and the genes they regulate. We have previously reported the development of a supervised-learning approach to TF target identification, and used it to predict targets of 104 transcription factors in yeast. We now include a new sequence conservation measure, expand our predictions to include 59 new TFs, introduce a web-server, and implement an improved ranking method to reveal the biological features contributing to regulation. The classifiers combine 8 genomic datasets covering a broad range of measurements including sequence conservation, sequence overrepresentation, gene expression, and DNA structural properties. Principal Findings (1) Application of the method yields an amplification of information about yeast regulators. The ratio of total targets to previously known targets is greater than 2 for 11 TFs, with several having larger gains: Ash1(4), Ino2(2.6), Yaf1(2.4), and Yap6(2.4). (2) Many predicted targets for TFs match well with the known biology of their regulators. As a case study we discuss the regulator Swi6, presenting evidence that it may be important in the DNA damage response, and that the previously uncharacterized gene YMR279C plays a role in DNA damage response and perhaps in cell-cycle progression. (3) A procedure based on recursive-feature-elimination is able to uncover from the large initial data sets those features that best distinguish targets for any TF, providing clues relevant to its biology. An analysis of Swi6 suggests a possible role in lipid metabolism, and more specifically in metabolism of ceramide, a bioactive lipid currently being investigated for anti-cancer properties. (4) An analysis of global network properties highlights the transcriptional network hubs; the factors which control the most genes and the genes which are bound by the largest set of regulators. Cell-cycle and growth related regulators dominate the former; genes involved in carbon metabolism and energy generation dominate the latter. Conclusion Postprocessing of regulatory-classifier results can provide high quality predictions, and feature ranking strategies can deliver insight into the regulatory functions of TFs. Predictions are available at an online web-server, including the full transcriptional network, which can be analyzed using VisAnt network analysis suite. Reviewers This article was reviewed by Igor Jouline, Todd Mockler(nominated by Valerian Dolja), and Sandor Pongor. PMID:18513408

Feature binding and attention in working memory: a resolution of previous contradictory findings.

PubMed

Allen, Richard J; Hitch, Graham J; Mate, Judit; Baddeley, Alan D

2012-01-01

We aimed to resolve an apparent contradiction between previous experiments from different laboratories, using dual-task methodology to compare effects of a concurrent executive load on immediate recognition memory for colours or shapes of items or their colour-shape combinations. Results of two experiments confirmed previous evidence that an irrelevant attentional load interferes equally with memory for features and memory for feature bindings. Detailed analyses suggested that previous contradictory evidence arose from limitations in the way recognition memory was measured. The present findings are inconsistent with an earlier suggestion that feature binding takes place within a multimodal episodic buffer Baddeley, ( 2000 ) and support a subsequent account in which binding takes place automatically prior to information entering the episodic buffer Baddeley, Allen, & Hitch, ( 2011 ). Methodologically, the results suggest that different measures of recognition memory performance (A', d', corrected recognition) give a converging picture of main effects, but are less consistent in detecting interactions. We suggest that this limitation on the reliability of measuring recognition should be taken into account in future research so as to avoid problems of replication that turn out to be more apparent than real.

A Transform-Based Feature Extraction Approach for Motor Imagery Tasks Classification

PubMed Central

Khorshidtalab, Aida; Mesbah, Mostefa; Salami, Momoh J. E.

2015-01-01

In this paper, we present a new motor imagery classification method in the context of electroencephalography (EEG)-based brain–computer interface (BCI). This method uses a signal-dependent orthogonal transform, referred to as linear prediction singular value decomposition (LP-SVD), for feature extraction. The transform defines the mapping as the left singular vectors of the LP coefficient filter impulse response matrix. Using a logistic tree-based model classifier; the extracted features are classified into one of four motor imagery movements. The proposed approach was first benchmarked against two related state-of-the-art feature extraction approaches, namely, discrete cosine transform (DCT) and adaptive autoregressive (AAR)-based methods. By achieving an accuracy of 67.35%, the LP-SVD approach outperformed the other approaches by large margins (25% compared with DCT and 6 % compared with AAR-based methods). To further improve the discriminatory capability of the extracted features and reduce the computational complexity, we enlarged the extracted feature subset by incorporating two extra features, namely, Q- and the Hotelling’s \\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{upgreek} \\usepackage{mathrsfs} \\setlength{\\oddsidemargin}{-69pt} \\begin{document} }{}$T^{2}$ \\end{document} statistics of the transformed EEG and introduced a new EEG channel selection method. The performance of the EEG classification based on the expanded feature set and channel selection method was compared with that of a number of the state-of-the-art classification methods previously reported with the BCI IIIa competition data set. Our method came second with an average accuracy of 81.38%. PMID:27170898

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

PubMed

Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

2018-06-01

Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Sonic horizon formation for oscillating Bose-Einstein condensates in isotropic harmonic potential

PubMed Central

Wang, Ying; Zhou, Yu; Zhou, Shuyu

2016-01-01

We study the sonic horizon phenomena of the oscillating Bose-Einstein condensates in isotropic harmonic potential. Based on the Gross-Pitaevskii equation model and variational method, we derive the original analytical formula for the criteria and lifetime of the formation of the sonic horizon, demonstrating pictorially the interaction parameter dependence for the occur- rence of the sonic horizon and damping effect of the system distribution width. Our analytical results corroborate quantitatively the particular features of the sonic horizon reported in previous numerical study. PMID:27922129

Hemiconvulsion-hemiplegia-epilepsy syndrome: characteristic early magnetic resonance imaging findings.

PubMed

Freeman, Jeremy L; Coleman, Lee T; Smith, Lindsay J; Shield, Lloyd K

2002-01-01

We report three patients with hemiconvulsion-hemiplegia-epilepsy syndrome who presented acutely and were shown to have striking neuroimaging findings suggestive of diffuse cytotoxic edema confined to one hemisphere, including extensive diffusion-weighted imaging abnormalities in two cases. Two patients subsequently developed progressive and extensive atrophy of the involved hemisphere. These findings are consistent with earlier descriptions of the classic neuroradiologic features of this syndrome and are helpful in the differential diagnosis of acute infantile hemiplegia. Further, the findings support the previously proposed pathogenetic mechanism of neuronal injury caused by status epilepticus.

First principles and experimental study of the electronic structure and phase stability of bulk thallium bromide

NASA Astrophysics Data System (ADS)

Smith, Holland M.; Zhou, Yuzhi; Ciampi, Guido; Kim, Hadong; Cirignano, Leonard J.; Shah, Kanai S.; Haller, E. E.; Chrzan, D. C.

2013-08-01

We apply state-of-art first principle calculations to study the polymorphism and electronic structure of three previously reported phases of TlBr. The calculated band structures of NaCl-structure phase and orthorhombic-structure phase have different features than that of commonly observed CsCl-structure phase. We further interpret photoluminescence spectra based on our calculations. Several peaks close to calculated band gap values of the NaCl-structure phase and the orthorhombic-structure phase are found in unpolished TlBr samples.

Polymorphism at the REF(2)P Locus in DROSOPHILA MELANOGASTER: Preliminary Experiments concerning the Selection Mechanisms Involved in Its Maintenance

PubMed Central

Fleuriet, Annie

1981-01-01

It has been shown previously that a polymorphism for two alleles of the ref(2)P locus is a regular feature of French natural populations of Drosophila melanogaster and that this is maintained in laboratory populations raised in cages. In this paper, an experimental population and egg-collection experiments are reported. Differential survival of the three genotypes would be the main factor leading to the equilibrium frequencies, working only in drastic conditions of larval competition. PMID:6791986

CPTAC researchers report first large-scale integrated proteomic and genomic analysis of a human cancer | Office of Cancer Clinical Proteomics Research

Cancer.gov

Investigators from the National Cancer Institute's Clinical Proteomic Tumor Analysis Consortium (CPTAC) who comprehensively analyzed 95 human colorectal tumor samples, have determined how gene alterations identified in previous analyses of the same samples are expressed at the protein level. The integration of proteomic and genomic data, or proteogenomics, provides a more comprehensive view of the biological features that drive cancer than genomic analysis alone and may help identify the most important targets for cancer detection and intervention.

The double quasar 0957+561: examination of the gravitational lens hypothesis using the very large array.

PubMed

Greenfield, P E; Roberts, D H; Burke, B F

1980-05-02

A full 12-hour synthesis at 6-centimeter wavelength with the Very Large Array confirms the major features previously reported for the double quasar 0957+561. In addition, the existence of radio jets apparently associated with both quasars is demonstrated. Gravitational lens models are now favored on the basis of recent optical observations, and the radio jets place severe constraints on such models. Further radio observations of the double quasar are needed to establish the expected relative time delay in variations between the images.

[Hepatic amyloidosis as cause of severe intrahepatic cholestasis].

PubMed

Gavilán, J C; Bermúdez, F J; Márquez, A; Sánchez-Carrillo, J J; González-Santos, P

2003-01-01

The liver is frequently involved by amyloidosis, but hyperbilirubinemia and liver failure are uncommon features. A mild elevation of the serum alkaline phosphatase value and, less frequently, hepatomegaly are the most common findings. Usually the patients have no symptoms related with the liver involvement; the clinical manifestation and the long term prognosis depends on the renal and cardiac disease. We report an unusual clinical presentation of primary amyloidosis in a previously asymptomatic 65 years old woman who was admitted to the hospital because of ictericia and ascitis mimicking a drug induced acute hepatic failure.

Primary vulvar neoplasia: a review of in situ and invasive carcinoma, 1935-1972.

PubMed

Japaze, H; Garcia-Bunuel, R; Woodruff, J D

1977-04-01

This survey reports the past 38 years of experience with 192 cases of carcinoma of the vulva seen and treated at the Johns Hopkins Hospital. The review stresses the increased incidence of in situ neoplasia and the importance of individualization of therapy. Also the changing concepts in terminology (eg, the leukoplakic vulvitis of the past is the dystrophy of the present) suggest that the precursory alterations of previous discussions must be reviewed in the light of such an altered nomenclature. Features of epidemiologic and histologic importance are discussed.

The Speed of Feature-Based Attention: Attentional Advantage Is Slow, but Selection Is Fast

ERIC Educational Resources Information Center

Huang, Liqiang

2010-01-01

When paying attention to a feature (e.g., red), no attentional advantage is gained in perceiving items with this feature in very brief displays. Therefore, feature-based attention seems to be slow. In previous feature-based attention studies, attention has often been measured as the difference in performance in a secondary task. In our recent work…

A Deep Learning Method to Automatically Identify Reports of Scientifically Rigorous Clinical Research from the Biomedical Literature: Comparative Analytic Study.

PubMed

Del Fiol, Guilherme; Michelson, Matthew; Iorio, Alfonso; Cotoi, Chris; Haynes, R Brian

2018-06-25

A major barrier to the practice of evidence-based medicine is efficiently finding scientifically sound studies on a given clinical topic. To investigate a deep learning approach to retrieve scientifically sound treatment studies from the biomedical literature. We trained a Convolutional Neural Network using a noisy dataset of 403,216 PubMed citations with title and abstract as features. The deep learning model was compared with state-of-the-art search filters, such as PubMed's Clinical Query Broad treatment filter, McMaster's textword search strategy (no Medical Subject Heading, MeSH, terms), and Clinical Query Balanced treatment filter. A previously annotated dataset (Clinical Hedges) was used as the gold standard. The deep learning model obtained significantly lower recall than the Clinical Queries Broad treatment filter (96.9% vs 98.4%; P<.001); and equivalent recall to McMaster's textword search (96.9% vs 97.1%; P=.57) and Clinical Queries Balanced filter (96.9% vs 97.0%; P=.63). Deep learning obtained significantly higher precision than the Clinical Queries Broad filter (34.6% vs 22.4%; P<.001) and McMaster's textword search (34.6% vs 11.8%; P<.001), but was significantly lower than the Clinical Queries Balanced filter (34.6% vs 40.9%; P<.001). Deep learning performed well compared to state-of-the-art search filters, especially when citations were not indexed. Unlike previous machine learning approaches, the proposed deep learning model does not require feature engineering, or time-sensitive or proprietary features, such as MeSH terms and bibliometrics. Deep learning is a promising approach to identifying reports of scientifically rigorous clinical research. Further work is needed to optimize the deep learning model and to assess generalizability to other areas, such as diagnosis, etiology, and prognosis. ©Guilherme Del Fiol, Matthew Michelson, Alfonso Iorio, Chris Cotoi, R Brian Haynes. Originally published in the Journal of Medical Internet Research (http://www.jmir.org), 25.06.2018.

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.

PubMed

Minucci, Angelo; Moradkhani, Kamran; Hwang, Ming Jing; Zuppi, Cecilia; Giardina, Bruno; Capoluongo, Ettore

2012-03-15

In the present paper we have updated the G6PD mutations database, including all the last discovered G6PD genetic variants. We underline that the last database has been published by Vulliamy et al. [1] who analytically reported 140 G6PD mutations: along with Vulliamy's database, there are two main sites, such as http://202.120.189.88/mutdb/ and www.LOVD.nl/MR, where almost all G6PD mutations can be found. Compared to the previous mutation reports, in our paper we have included for each mutation some additional information, such as: the secondary structure and the enzyme 3D position involving by mutation, the creation or abolition of a restriction site (with the enzyme involved) and the conservation score associated with each amino acid position. The mutations reported in the present tab have been divided according to the gene's region involved (coding and non-coding) and mutations affecting the coding region in: single, multiple (at least with two bases involved) and deletion. We underline that for the listed mutations, reported in italic, literature doesn't provide all the biochemical or bio-molecular information or the research data. Finally, for the "old" mutations, we tried to verify features previously reported and, when subsequently modified, we updated the specific information using the latest literature data. Copyright © 2012 Elsevier Inc. All rights reserved.

Patterns of Drug Use and HIV-Related Risk Behaviors among Incarcerated People in a Prison in Iran

PubMed Central

Farnia, Marziyeh; Torknejad, Alireza; Abbasi Alaei, Behrouz; Gholizadeh, Mehran; Kasraee, Farzad; Ono-Kihara, Masako; Oba, Koji; Kihara, Masahiro

2010-01-01

Previous research indicates that prisoners in Iran are at risk of drug-related harm, including acquisition of blood-borne infections. In response, several prevention interventions have been introduced into prisons in Iran, such as methadone maintenance treatment (MMT). MMT is now provided to opioid-dependent prisoners in 142 of the 230 prisons and correctional settings in Iran. A baseline behavioral survey was conducted in Karaj Central prison which mainly holds prisoners with drug-related charges. Overall, 203 male prisoners from randomly selected rooms in two prison blocks were interviewed using a structured questionnaire in 2007, just before the introduction of MMT program in this prison. Among participants, 7% reported never having used illicit drugs in their lifetime, but 51% had used non-injecting illicit drugs, and as high as 42% reported having injected an illicit drug. Up to 79% (160/203) of all participants reported using drugs, and about 6% (12/203) reported drug injecting during their current incarceration term. Same-gender sexual practice during current incarceration term was reported by 2.5% (5/203) of all male prisoners. Comparison between injecting and non-injecting drug-using prisoners indicated that drug injectors had higher rates of previous incarcerations, commenced drug use at a younger age, were more likely to have used illicit drugs in the previous week, were more likely to have been treated by a physician for drug addiction, had higher rates of registration for methadone treatment inside prison, and were more likely to have been tested for HIV infection. These study findings provide a behavioral profile of prisoners in regard to drug-related harm and can be considered in any plan to introduce or improve provision of MMT in prisons in Iran or other countries with similar features. PMID:20390391

Patterns of drug use and HIV-related risk behaviors among incarcerated people in a prison in Iran.

PubMed

Zamani, Saman; Farnia, Marziyeh; Torknejad, Alireza; Alaei, Behrouz Abbasi; Gholizadeh, Mehran; Kasraee, Farzad; Ono-Kihara, Masako; Oba, Koji; Kihara, Masahiro

2010-07-01

Previous research indicates that prisoners in Iran are at risk of drug-related harm, including acquisition of blood-borne infections. In response, several prevention interventions have been introduced into prisons in Iran, such as methadone maintenance treatment (MMT). MMT is now provided to opioid-dependent prisoners in 142 of the 230 prisons and correctional settings in Iran. A baseline behavioral survey was conducted in Karaj Central prison which mainly holds prisoners with drug-related charges. Overall, 203 male prisoners from randomly selected rooms in two prison blocks were interviewed using a structured questionnaire in 2007, just before the introduction of MMT program in this prison. Among participants, 7% reported never having used illicit drugs in their lifetime, but 51% had used non-injecting illicit drugs, and as high as 42% reported having injected an illicit drug. Up to 79% (160/203) of all participants reported using drugs, and about 6% (12/203) reported drug injecting during their current incarceration term. Same-gender sexual practice during current incarceration term was reported by 2.5% (5/203) of all male prisoners. Comparison between injecting and non-injecting drug-using prisoners indicated that drug injectors had higher rates of previous incarcerations, commenced drug use at a younger age, were more likely to have used illicit drugs in the previous week, were more likely to have been treated by a physician for drug addiction, had higher rates of registration for methadone treatment inside prison, and were more likely to have been tested for HIV infection. These study findings provide a behavioral profile of prisoners in regard to drug-related harm and can be considered in any plan to introduce or improve provision of MMT in prisons in Iran or other countries with similar features.

Internal attention to features in visual short-term memory guides object learning

PubMed Central

Fan, Judith E.; Turk-Browne, Nicholas B.

2013-01-01

Attending to objects in the world affects how we perceive and remember them. What are the consequences of attending to an object in mind? In particular, how does reporting the features of a recently seen object guide visual learning? In three experiments, observers were presented with abstract shapes in a particular color, orientation, and location. After viewing each object, observers were cued to report one feature from visual short-term memory (VSTM). In a subsequent test, observers were cued to report features of the same objects from visual long-term memory (VLTM). We tested whether reporting a feature from VSTM: (1) enhances VLTM for just that feature (practice-benefit hypothesis), (2) enhances VLTM for all features (object-based hypothesis), or (3) simultaneously enhances VLTM for that feature and suppresses VLTM for unreported features (feature-competition hypothesis). The results provided support for the feature-competition hypothesis, whereby the representation of an object in VLTM was biased towards features reported from VSTM and away from unreported features (Experiment 1). This bias could not be explained by the amount of sensory exposure or response learning (Experiment 2) and was amplified by the reporting of multiple features (Experiment 3). Taken together, these results suggest that selective internal attention induces competitive dynamics among features during visual learning, flexibly tuning object representations to align with prior mnemonic goals. PMID:23954925

Internal attention to features in visual short-term memory guides object learning.

PubMed

Fan, Judith E; Turk-Browne, Nicholas B

2013-11-01

Attending to objects in the world affects how we perceive and remember them. What are the consequences of attending to an object in mind? In particular, how does reporting the features of a recently seen object guide visual learning? In three experiments, observers were presented with abstract shapes in a particular color, orientation, and location. After viewing each object, observers were cued to report one feature from visual short-term memory (VSTM). In a subsequent test, observers were cued to report features of the same objects from visual long-term memory (VLTM). We tested whether reporting a feature from VSTM: (1) enhances VLTM for just that feature (practice-benefit hypothesis), (2) enhances VLTM for all features (object-based hypothesis), or (3) simultaneously enhances VLTM for that feature and suppresses VLTM for unreported features (feature-competition hypothesis). The results provided support for the feature-competition hypothesis, whereby the representation of an object in VLTM was biased towards features reported from VSTM and away from unreported features (Experiment 1). This bias could not be explained by the amount of sensory exposure or response learning (Experiment 2) and was amplified by the reporting of multiple features (Experiment 3). Taken together, these results suggest that selective internal attention induces competitive dynamics among features during visual learning, flexibly tuning object representations to align with prior mnemonic goals. Copyright © 2013 Elsevier B.V. All rights reserved.

An Integrated Account of Generalization across Objects and Features

ERIC Educational Resources Information Center

Kemp, Charles; Shafto, Patrick; Tenenbaum, Joshua B.

2012-01-01

Humans routinely make inductive generalizations about unobserved features of objects. Previous accounts of inductive reasoning often focus on inferences about a single object or feature: accounts of causal reasoning often focus on a single object with one or more unobserved features, and accounts of property induction often focus on a single…

Feature-based versus category-based induction with uncertain categories.

PubMed

Griffiths, Oren; Hayes, Brett K; Newell, Ben R

2012-05-01

Previous research has suggested that when feature inferences have to be made about an instance whose category membership is uncertain, feature-based inductive reasoning is used to the exclusion of category-based induction. These results contrast with the observation that people can and do use category-based induction when category membership is known. The present experiments examined the conditions that drive feature-based and category-based strategies in induction under category uncertainty. Specifically, 2 experiments investigated whether reliance on feature-based inductive strategies is a product of the lack of coherence in the categories used in previous research or is due to the use of a decision-only induction procedure. Experiment 1 found that feature-based reasoning remained the preferred strategy even when categories with relatively high internal coherence were used. Experiment 2 found a shift toward category-based reasoning when participants were trained to classify category members prior to feature induction. Together, these results suggest that an appropriate conceptual representation must be formed through experience with a category before it is likely to be used as a basis for feature induction. (c) 2012 APA, all rights reserved.

SAMS Acceleration Measurements on Mir from May 1997 to June 1998 (NASA Increments 5, 6, and 7)

NASA Technical Reports Server (NTRS)

DeLombard, Richard

1999-01-01

During NASA Increments 5, 6, and 7 (May 1997 to June 1998), about eight gigabytes of acceleration data were collected by the Space Acceleration Measurement System (SAMS) onboard the Russian Space Station Mir. The data were recorded on twenty-seven optical disks which were returned to Earth on Orbiter missions STS-86, STS-89, and STS-91. During these increments, SAMS data were collected in the Priroda module to support various microgravity experiments. This report points out some of the salient features of the microgravity acceleration environment to which the experiments were exposed. This report presents an overview of the SAMS acceleration measurements recorded by 10 Hz and 100 Hz sensor heads. The analyses included herein complement those presented in previous Mir increment summary reports prepared by the Principal Investigator Microgravity Services project.

Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.

PubMed

Azukizawa, Takayuki; Yamamoto, Masahito; Narumiya, Seirou; Takano, Tomoyuki

2013-04-01

We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child also had a hypothalamic hamartoma and a Dandy-Walker malformation, which have not been reported previously. The clinical features, including cerebral malformations, in several types of oral-facial-digital syndrome, overlap with each other. Further accumulation of new case reports and identification of new genetic mutations in oral-facial-digital syndrome may provide novel and important insights into the genetic mechanisms of this syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

Mild encephalopathy/encephalitis with a reversible splenial lesion (MERS): A report of five neonatal cases.

PubMed

Sun, Dan; Chen, Wen-Hong; Baralc, Suraj; Wang, Juan; Liu, Zhi-Sheng; Xia, Yuan-Peng; Chen, Lei

2017-06-01

Mild encephalopathy/encephalitis with a reversible splenial (MERS) lesion is a clinic-radiological entity. The clinical features of MERS in neonates are still not systemically reported. This paper presents five cases of MERS, and the up-to-date reviews of previously reported cases were collected and analyzed in the literature. Here we describe five cases clinically diagnosed with MERS. All of them were neonates and the average age was about 4 days. They were admitted for the common neurological symptoms such as hyperspasmia, poor reactivity and delirium. Auxiliary examinations during hospitalization also exhibited features in common. In this report, we reached following conclusions. Firstly, magnetic resonance imaging revealed solitary or comprehensive lesions in the splenium of corpus callosum, some of them extending to almost the whole corpus callosum. The lesions showed low intensity signal on T1-weighted images, homogeneously hyperintense signal on T2-weighted images, fluid-attenuated inversion recovery and diffusion-weighted images, and exhibited an obvious reduced diffusion on apparent diffusion coefficient map. Moreover, the lesions in the magnetic resonance imaging disappeared very quickly even prior to the clinical recovery. Secondly, all the cases depicted here suffered electrolyte disturbances especially hyponatremia which could be easily corrected. Lastly, all of the cases recovered quickly over one week to one month and majority of them exhibited signs of infections and normal electroencephalography.

Near-death states reported in a sample of 50 misusers.

PubMed

Corazza, Ornella; Schifano, Fabrizio

2010-05-01

Increase in recreational ketamine use may be a cause for concern. We aimed here at assessing, in a sample of ketamine misusers, concordance between the typical near-death experience (NDE) features and the on-drug psychoactive effects the subjects experienced. In 2003-2005, a sample of previous ketamine misusers recollecting a ketamine-related NDE were recruited through snowballing and screened with the means of the Greyson NDE Scale; 125 participants made an initial contact with the researcher and 50 reported a minimum score of seven at the "Greyson NDE Scale". Interviewees were in the range 21-66 years old; 27 participants (54%) were educated at BA level, 18 (36%) had an MSc, and 5 (10%) a PhD. Eight (16%) interviewees had a definite religious background. An average lifetime ketamine intake of 140 occasions was reported by the interviewees, who typically presented with a polydrug, including cannabis and MDMA/ecstasy, misuse history. In 45 (90%) cases, the NDE occurred during the first few occasions of intake. Most frequent features of reported NDE states included: altered perception of time (90%), strong sense of detaching from own physical body (88%), and a sense of peace/joy (76% of subjects). Although results here described were elicited from a self-selected, nonrandomized, limited size sample of misusers, we suggest that recreational ketamine intake may be associated with occurrence of near-death related states.

When fear of cancer recurrence becomes a clinical issue: a qualitative analysis of features associated with clinical fear of cancer recurrence.

PubMed

Mutsaers, Brittany; Jones, Georden; Rutkowski, Nicole; Tomei, Christina; Séguin Leclair, Caroline; Petricone-Westwood, Danielle; Simard, Sébastien; Lebel, Sophie

2016-10-01

Fear of cancer recurrence (FCR) is a common experience for cancer survivors. However, it remains unclear what characteristics differentiate non-clinical from clinical levels of FCR. The goal of this study was to investigate the potential hallmarks of clinical FCR. A convenience sample of 40 participants (n = 19 female) was drawn from another study (Lebel et al. in Qual Life Res 25:311-321. doi: 10.1007/s11136-015-1088-2 , 2016). The semi-structured interview for fear of cancer recurrence (Simard and Savard in J Cancer Surviv 9:481-491. doi: 10.1007/s11764-015-0424-4 , 2015) was used to identify participants with non-clinical and clinical FCR and qualitative analysis of these interviews was performed. Individuals with clinical FCR reported the following features: death-related thoughts, feeling alone, belief that the cancer would return, experiencing intolerance of uncertainty, having cancer-related thoughts and imagery that were difficult to control, daily and recurrent, lasted 30 minutes or more, increased over time, caused distress and impacted their daily life. Triggers of FCR and coping strategies did not appear to be features of clinical FCR as they were reported by participants with a range of FCR scores. While features of clinical FCR found in this analysis such as intrusive thoughts, distress and impact on functioning confirmed previous FCR research, other features spontaneously emerged from the interviews including "death-related thoughts," "feeling alone," and "belief that the cancer will return." The participants' descriptions of cancer-specific fear and worry suggest that FCR is a distinct phenomenon related to cancer survivorship, despite similarities with psychological disorders (e.g., Anxiety Disorders). Future research investigating the construct of FCR, and the distinguishing features of clinical FCR across a range of cancer types and gender is required.

Negative Emotion Does Not Modulate Rapid Feature Integration Effects

PubMed Central

Trübutschek, Darinka; Egner, Tobias

2012-01-01

Emotional arousal at encoding is known to facilitate later memory recall. In the present study, we asked whether this emotion-modulation of episodic memory is also evident at very short time scales, as measured by “feature integration effects,” the moment-by-moment binding of relevant stimulus and response features in episodic memory. This question was motivated by recent findings that negative emotion appears to potentiate first-order trial sequence effects in classic conflict tasks, which has been attributed to emotion-modulation of conflict-driven cognitive control processes. However, these effects could equally well have been carried by emotion-modulation of mnemonic feature binding processes, which were perfectly confounded with putative control processes in these studies. In the present experiments, we tried to shed light on this question by testing explicitly whether feature integration processes, assessed in isolation of conflict–control, are in fact susceptible to negative emotion-modulation. For this purpose, we adopted a standard protocol for assessing the rapid binding of stimulus and response features in episodic memory (Experiment 1) and paired it with the presentation of either neutral or fearful background face stimuli, shown either at encoding only (Experiment 2), or at both encoding and retrieval (Experiment 3). Whereas reliable feature integration effects were observed in all three experiments, no evidence for emotion-modulation of these effects was detected, in spite of significant effects of emotion on response times. These findings suggest that rapid feature integration of foreground stimulus and response features is not subject to modulation by negative emotional background stimuli and further suggest that previous reports of emotion-modulated trial–transition effects are likely attributable to the effects of emotion on cognitive control processes. PMID:22509172

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

PubMed

Lee, Cha Gon; Park, Sang-Jin; Yim, Shin-Young; Sohn, Young Bae

2013-08-01

Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several studies, the critical PTLS region was deduced to be 1.3Mb in length, and included RAI1 and 17 other genes. We report a 3-year-old Korean boy with the smallest duplication in 17p11.2 and a milder phenotype. He had no family history of neurologic disease or developmental delay and no history of seizure, autistic features, or behavior problems. He showed subtle facial dysmorphic features (dolichocephaly and a mildly asymmetric smile) and flat feet. All laboratory tests were normal and he had no evidence of internal organ anomalies. He was found to have mild intellectual disabilities (full scale IQ 65 on K-WPPSI) and language developmental delay (age of 2.2year-old on PRESS). Array comparative genomic hybridization (CGH) showed about a 0.25Mb microduplication on chromosome 17p11.2 containing four Refseq (NCBI reference sequence) genes, including RAI1 [arr 17p11.2(17,575,978-17,824,623)×3]. When compared with previously reported cases, the milder phenotype of our patient may be associated with the smallest duplication in 17p11.2, 0.25Mb in length. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Speech recognition features for EEG signal description in detection of neonatal seizures.

PubMed

Temko, A; Boylan, G; Marnane, W; Lightbody, G

2010-01-01

In this work, features which are usually employed in automatic speech recognition (ASR) are used for the detection of neonatal seizures in newborn EEG. Three conventional ASR feature sets are compared to the feature set which has been previously developed for this task. The results indicate that the thoroughly-studied spectral envelope based ASR features perform reasonably well on their own. Additionally, the SVM Recursive Feature Elimination routine is applied to all extracted features pooled together. It is shown that ASR features consistently appear among the top-rank features.

Kennedy, the early sixties, and visitation by the angel of death.

PubMed

O'Toole, D; Chase, C C L; Miller, M M; Campen, H Van

2014-11-01

The inaugural issue of Pathologia Veterinaria in 1964 contained the first detailed account of lesions in aborted fetuses following natural, experimental, and postvaccinal infection with bovine herpesvirus 1 (BoHV-1). The article, written by pathologists Kennedy and Richards, described diagnostic gross and histologic features in 13 bovine fetuses. The authors provided clinical and epidemiologic features of 1 postvaccination outbreak, including the absence of clinical signs in infected dams and the propensity for abortions to occur after 6 months' gestation. Subsequent field and experimental studies corroborated and expanded these observations. As a result of this and later reports, veterinarians became alert to the association between infectious bovine rhinotracheitis and abortion, including the risks of exposing pregnant cattle to live vaccinal BoHV-1. Methods were developed to corroborate a morphologic diagnosis of herpetic abortion in cattle, including immunofluorescence, immunohistochemistry, and polymerase chain reaction methods. Outbreaks of postvaccinal BoHV-1 abortion in the United States began to be reported with apparently increased frequency in the early 2000s. This coincided with licensure in 2003 of modified live BoHV-1 vaccines intended for use in pregnant cattle, which are now sold by 3 manufacturers. Ten recent herd episodes of postvaccinal BoHV-1 abortion are reported. All 10 BoHV-1 isolates had single-nucleotide polymorphism (SNPs) profiles previously identified in a group of BoHV-1 isolates that contains vaccine strains, based on a BoHV-1 SNP classification system. They lacked SNP features typical of those in characterized field-type strains of BoHV-1. © The Author(s) 2014.

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

PubMed

Quintero-Rivera, Fabiola; Martinez-Agosto, Julian A

2013-08-01

Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1-q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. Copyright © 2013 Wiley Periodicals, Inc.

NuSTAR Observations of X-Ray Bursts from the Magnetar 1E 1048.1-5937

NASA Technical Reports Server (NTRS)

An, Hongjun; Kaspi, Victoria M.; Beloborodov, Andrei M.; Kouveliotou, Chryssa; Archibald, Robert T.; Boggs, Steven E.; Christensen, Finn E.; Craig, William W.; Gotthelf, Eric V.; Stern, Daniel;

Segmental stiff skin syndrome (SSS): A distinct clinical entity.

PubMed

Myers, Kathryn L; Mir, Adnan; Schaffer, Julie V; Meehan, Shane A; Orlow, Seth J; Brinster, Nooshin K

2016-07-01

Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features. Copyright © 2016 American Academy of Dermatology, Inc. All rights reserved.

Attention please: evaluative priming effects in a valent/non-valent categorisation task (reply to Werner & Rothermund, 2013).

PubMed

Spruyt, Adriaan

2014-04-01

It has previously been argued (a) that automatic evaluative stimulus processing is dependent upon feature-specific attention allocation (FSAA) and (b) that evaluative priming effects can arise in the absence of dimensional overlap between the prime set and the response set. In opposition to these claims, Werner and Rothermund (2013) recently reported that they were unable to replicate the evaluative priming effect in a valent/non-valent categorisation task. In this manuscript, I report the results of a conceptual replication of the studies by Werner and Rothermund (2013). A clear-cut evaluative priming effect was found, thus supporting the initial claims about FSAA and dimensional overlap. An explanation for these divergent findings is discussed.

Recovery of Third Nerve Palsy after Endovascular Packing of Internal Carotid-Posterior Communicating Artery Aneurysms

PubMed Central

Mavilio, N.; Pisani, R.; Rivano, C.; Testa, V.; Spaziante, R.; Rosa, M.

2000-01-01

Summary Endovascular packing of intracranial aneurysm with preservation of the parent vessel has become in many cases a valid alternative to surgical clipping. Regression of oculomotor disorders after clipping of internal carotid-posterior communicating artery (ICA-PCoA) aneurysms has been well assessed. This report focuses on the reversal of third nerve palsy after endovascular packing of ICA-PCoA aneurysms. To this end, clinical appearances, neuroradiological features, and endovascular interventional procedures of six treated patient are reported and discussed in the light of the very few previous case observations found in the literature. Results indicate that endovascular packing of ICA-PCoA aneurysms may produce effective recovery of correlated third nerve dysfunction. PMID:20667199

An unusual mechanism for injury of the anterior cruciate ligament in figure skating.

PubMed

Wilson, Eugene K; Lahurd, Alexandra P; Wilckens, John H

2012-03-01

A 20-year-old competitive figure skater presented with an acute disabling knee injury that occurred in the overhead, non-weight-bearing knee during the performance of a Biellmann spin. Examination and magnetic resonance imaging confirmed the diagnosis of a complete anterior cruciate ligament (ACL) tear. To our knowledge, no previous cases of acute injury of the ACL sustained during the execution of a Biellmann spin have been reported. The ACL injury we report is unique because it occurred without the blade contacting the ice. The mechanism of injury has some features that are similar to those of other noncontact ACL injuries, with the addition of centrifugal force as a potential contributor to the injury.

Investigation of the detection and monitoring of forest insect infestations in the Sierra Nevada Mountains of California

NASA Technical Reports Server (NTRS)

Hall, R. C. (Principal Investigator)

1973-01-01

The author has identified the following significant results. In earlier reports it has been indicated that it is possible to delineate areas of lodgepole pine timber mortality into three degrees of damage from enlarged ERTS-1 color composites; light, medium, and heavy. It can also be confidently reported that it is now possible to detect all major areas of lodgepole pine defoliated by the needle miner. It has also been confirmed, through ground checking and helicopter observation that previous designation of the following features have been consistently accurate: timbered vs non-timbered areas; timber types; damaged vs undamaged areas; lakes, dome shadows which resemble lakes, mountain meadows, pasture and agricultural land, desert; riparian vegetation; and glaciers.

Glucose-6-phosphate dehydrogenase deficiency: an unusual cause of acute jaundice after paracetamol overdose.

PubMed

Phillpotts, Simon; Tash, Elliot; Sen, Sambit

2014-11-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest human enzyme defect causing haemolytic anaemia after exposure to specific triggers. Paracetamol-induced haemolysis in G6PD deficiency is a rare complication and mostly reported in children. We report the first case (to the best of our knowledge) of acute jaundice without overt clinical features of a haemolytic crisis, in an otherwise healthy adult female following paracetamol overdose, due to previously undiagnosed G6PD deficiency. It is important that clinicians consider this condition when a patient presents following a paracetamol overdose with significant and disproportionate jaundice, without transaminitis or coagulopathy. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Spectra of Hydrogen-poor Superluminous Supernovae from the Palomar Transient Factory

NASA Astrophysics Data System (ADS)

Quimby, Robert M.; De Cia, Annalisa; Gal-Yam, Avishay; Leloudas, Giorgos; Lunnan, Ragnhild; Perley, Daniel A.; Vreeswijk, Paul M.; Yan, Lin; Bloom, Joshua S.; Cenko, S. Bradley; Cooke, Jeff; Ellis, Richard; Filippenko, Alexei V.; Kasliwal, Mansi M.; Kleiser, Io K. W.; Kulkarni, Shrinivas R.; Matheson, Thomas; Nugent, Peter E.; Pan, Yen-Chen; Silverman, Jeffrey M.; Sternberg, Assaf; Sullivan, Mark; Yaron, Ofer

2018-03-01

Most Type I superluminous supernovae (SLSNe-I) reported to date have been identified by their high peak luminosities and spectra lacking obvious signs of hydrogen. We demonstrate that these events can be distinguished from normal-luminosity SNe (including Type Ic events) solely from their spectra over a wide range of light-curve phases. We use this distinction to select 19 SLSNe-I and four possible SLSNe-I from the Palomar Transient Factory archive (including seven previously published objects). We present 127 new spectra of these objects and combine these with 39 previously published spectra, and we use these to discuss the average spectral properties of SLSNe-I at different spectral phases. We find that Mn II most probably contributes to the ultraviolet spectral features after maximum light, and we give a detailed study of the O II features that often characterize the early-time optical spectra of SLSNe-I. We discuss the velocity distribution of O II, finding that for some SLSNe-I this can be confined to a narrow range compared to relatively large systematic velocity shifts. Mg II and Fe II favor higher velocities than O II and C II, and we briefly discuss how this may constrain power-source models. We tentatively group objects by how well they match either SN 2011ke or PTF12dam and discuss the possibility that physically distinct events may have been previously grouped together under the SLSN-I label.

Spectra of Hydrogen-poor Superluminous Supernovae from the Palomar Transient Factory

DOE PAGES

Quimby, Robert M.; Cia, Annalisa De; Gal-Yam, Avishay; ...

2018-02-27

Most Type I superluminous supernovae (SLSNe-I) reported to date have been identified by their high peak luminosities and spectra lacking obvious signs of hydrogen. Here, we demonstrate that these events can be distinguished from normal-luminosity SNe (including Type Ic events) solely from their spectra over a wide range of light-curve phases. We use this distinction to select 19 SLSNe-I and four possible SLSNe-I from the Palomar Transient Factory archive (including seven previously published objects). We present 127 new spectra of these objects and combine these with 39 previously published spectra, and we use these to discuss the average spectral propertiesmore » of SLSNe-I at different spectral phases. We find that Mn ii most probably contributes to the ultraviolet spectral features after maximum light, and we give a detailed study of the O II features that often characterize the early-time optical spectra of SLSNe-I. We discuss the velocity distribution of O II, finding that for some SLSNe-I this can be confined to a narrow range compared to relatively large systematic velocity shifts. Mg II and Fe II favor higher velocities than O II and C II, and we briefly discuss how this may constrain power-source models. We tentatively group objects by how well they match either SN 2011ke or PTF12dam and discuss the possibility that physically distinct events may have been previously grouped together under the SLSN-I label.« less

Spectra of Hydrogen-poor Superluminous Supernovae from the Palomar Transient Factory

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

Quimby, Robert M.; Cia, Annalisa De; Gal-Yam, Avishay

Most Type I superluminous supernovae (SLSNe-I) reported to date have been identified by their high peak luminosities and spectra lacking obvious signs of hydrogen. Here, we demonstrate that these events can be distinguished from normal-luminosity SNe (including Type Ic events) solely from their spectra over a wide range of light-curve phases. We use this distinction to select 19 SLSNe-I and four possible SLSNe-I from the Palomar Transient Factory archive (including seven previously published objects). We present 127 new spectra of these objects and combine these with 39 previously published spectra, and we use these to discuss the average spectral propertiesmore » of SLSNe-I at different spectral phases. We find that Mn ii most probably contributes to the ultraviolet spectral features after maximum light, and we give a detailed study of the O II features that often characterize the early-time optical spectra of SLSNe-I. We discuss the velocity distribution of O II, finding that for some SLSNe-I this can be confined to a narrow range compared to relatively large systematic velocity shifts. Mg II and Fe II favor higher velocities than O II and C II, and we briefly discuss how this may constrain power-source models. We tentatively group objects by how well they match either SN 2011ke or PTF12dam and discuss the possibility that physically distinct events may have been previously grouped together under the SLSN-I label.« less

Attention in the processing of complex visual displays: detecting features and their combinations.

PubMed

Farell, B

1984-02-01

The distinction between operations in visual processing that are parallel and preattentive and those that are serial and attentional receives both theoretical and empirical support. According to Treisman's feature-integration theory, independent features are available preattentively, but attention is required to veridically combine features into objects. Certain evidence supporting this theory is consistent with a different interpretation, which was tested in four experiments. The first experiment compared the detection of features and feature combinations while eliminating a factor that confounded earlier comparisons. The resulting priority of access to combinatorial information suggests that features and nonlocal combinations of features are not connected solely by a bottom-up hierarchical convergence. Causes of the disparity between the results of Experiment 1 and the results of previous research were investigated in three subsequent experiments. The results showed that of the two confounded factors, it was the difference in the mapping of alternatives onto responses, not the differing attentional demands of features and objects, that underlaid the results of the previous research. The present results are thus counterexamples to the feature-integration theory. Aspects of this theory are shown to be subsumed by more general principles, which are discussed in terms of attentional processes in the detection of features, objects, and stimulus alternatives.

Internal versus external features in triggering the brain waveforms for conjunction and feature faces in recognition.

PubMed

Nie, Aiqing; Jiang, Jingguo; Fu, Qiao

2014-08-20

Previous research has found that conjunction faces (whose internal features, e.g. eyes, nose, and mouth, and external features, e.g. hairstyle and ears, are from separate studied faces) and feature faces (partial features of these are studied) can produce higher false alarms than both old and new faces (i.e. those that are exactly the same as the studied faces and those that have not been previously presented) in recognition. The event-related potentials (ERPs) that relate to conjunction and feature faces at recognition, however, have not been described as yet; in addition, the contributions of different facial features toward ERPs have not been differentiated. To address these issues, the present study compared the ERPs elicited by old faces, conjunction faces (the internal and the external features were from two studied faces), old internal feature faces (whose internal features were studied), and old external feature faces (whose external features were studied) with those of new faces separately. The results showed that old faces not only elicited an early familiarity-related FN400, but a more anterior distributed late old/new effect that reflected recollection. Conjunction faces evoked similar late brain waveforms as old internal feature faces, but not to old external feature faces. These results suggest that, at recognition, old faces hold higher familiarity than compound faces in the profiles of ERPs and internal facial features are more crucial than external ones in triggering the brain waveforms that are characterized as reflecting the result of familiarity.

Physiological Differences in the Follicular, Luteal, and Menstrual Phases in Healthy Women Determined by Electrovestibulography: Depression, Anxiety, or Other Associations?

PubMed

Lithgow, Brian J; Moussavi, Zahra

2018-06-05

Electrovestibulography (EVestG) recordings have been previously applied toward classifying and/or measuring the severity of several neurological disorders including depression with and without anxiety. This study's objectives were to: (1) extract EVestG features representing physiological differences of healthy women during their menses, and follicular and luteal phases of their menstrual cycle, and (2) compare these features to those observed in previous studies for depression with and without anxiety. Three EVestG recordings were made on 15 young healthy menstruating females during menses, and follicular and luteal phases. Three features were extracted, using the shape and timing of the detected spontaneously evoked vestibulo-acoustic field potentials. Using these features, a 3-way separation of the 3 phases was achieved, with a leave-one-out cross-validation, resulting in accuracy of > 72%. Using an EVestG shape feature, separation of the follicular and luteal phases was achieved with a leave-one-out cross-validation accuracy of > 93%. The mechanism of separation was not like that in previous depression analyses, and is postulated to be more akin to a form of anxiety and/or progesterone sensitivity. © 2018 S. Karger AG, Basel.

Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature.

PubMed

Lata, Jeevan; Verma, Nitin; Kaur, Amandeep

2015-09-01

In Indian scenario, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome. The diagnostic findings of Gorlin-Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world. The most common features seen were keratocystic odontogenic tumors (100%), calcifications of falx cerebri (60%), palmar-plantar pits (80%), rib anomalies (80%), macroencephaly (60%), ocular hypertelorism (80%), and frontal bossing (60%) in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide. Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested.

Perivascular Epithelioid Cell Tumor of the Uterus with Ovarian Involvement: A Case Report and Review of the Literature.

PubMed

Fitzpatrick, Megan; Pulver, Tanya; Klein, Molly; Murugan, Paari; Khalifa, Mahmoud; Amin, Khalid

2016-05-06

Perivascular epithelioid cell tumors (PEComas) are a rare group of neoplasms composed of epithelioid cells that express both melanocytic and myoid markers. When considering PEComas of the female genital tract, the uterus is the most common location. Involvement of the ovary in the context of a primary uterine PEComa, in the absence of systemic disease associated with tuberous sclerosis, however, has only been reported in 1 previous case. We report a case of a PEComa of the uterus with metastasis to the left ovary in a 61-year-old Caucasian woman. Gross examination of the uterus revealed a 10.7×10.5×10.2 cm tan-brown, mostly solid, partially cystic mass. Microscopic examination showed epithelioid cells with clear to eosinophilic cytoplasm, arranged in fascicles. Intranuclear pseudoinclusions were also noted. The tumor cells were smooth muscle actin, caldesmon, and desmin positive (diffuse); HMB-45 positive (focal); and Melan-A, AE1/AE3, CD10, and S100 negative by immunohistochemistry. Distinguishing among mesenchymal neoplasms, including PEComas, endometrial stromal sarcomas, and leiomyosarcomas, can be difficult. Careful analysis of morphologic and immunohistochemical features is of the utmost importance. Differential diagnosis, including morphologic features and immunohistochemical patterns, is also discussed.

Direct Imaging Detection of Methane in the Atmosphere of GJ 504 b

NASA Technical Reports Server (NTRS)

Janson, Markus; Brandt, Timothy; Kuzuhara, Masayuki; Spiegel, David; Thalmann, Christian; Currie, Thayne; Bonnefoy, Mickael; Zimmerman, Neil; Sorahana, Satoko; Kotani, Takayuki;

Components of effective randomized controlled trials of hydrotherapy programs for fibromyalgia syndrome: A systematic review

PubMed Central

Perraton, Luke; Machotka, Zuzana; Kumar, Saravana

2009-01-01

Aim Previous systematic reviews have found hydrotherapy to be an effective management strategy for fibromyalgia syndrome (FMS). The aim of this systematic review was to summarize the components of hydrotherapy programs used in randomized controlled trials. Method A systematic review of randomized controlled trials was conducted. Only trials that have reported significant FMS-related outcomes were included. Data relating to the components of hydrotherapy programs (exercise type, duration, frequency and intensity, environmental factors, and service delivery) were analyzed. Results Eleven randomized controlled trials were included in this review. Overall, the quality of trials was good. Aerobic exercise featured in all 11 trials and the majority of hydrotherapy programs included either a strengthening or flexibility component. Great variability was noted in both the environmental components of hydrotherapy programs and service delivery. Conclusions Aerobic exercise, warm up and cool-down periods and relaxation exercises are common features of hydrotherapy programs that report significant FMS-related outcomes. Treatment duration of 60 minutes, frequency of three sessions per week and an intensity equivalent to 60%–80% maximum heart rate were the most commonly reported exercise components. Exercise appears to be the most important component of an effective hydrotherapy program for FMS, particularly when considering mental health-related outcomes. PMID:21197303

Neuropathic ocular pain due to dry eye is associated with multiple comorbid chronic pain syndromes

PubMed Central

Galor, Anat; Covington, Derek; Levitt, Alexandra E.; McManus, Katherine T.; Seiden, Benjamin; Felix, Elizabeth R.; Kalangara, Jerry; Feuer, William; Patin, Dennis J.; Martin, Eden R.; Sarantopoulos, Konstantinos D.; Levitt, Roy C.

2015-01-01

Recent data demonstrate that dry eye (DE) susceptibility and other chronic pain syndromes (CPS) such as chronic widespread pain, irritable bowel syndrome and pelvic pain, may share common heritable factors. Previously, we showed that DE patients describing more severe symptoms tended to report features of neuropathic ocular pain (NOP). We hypothesize that patients with a greater number of CPS would have a different DE phenotype compared to those with fewer CPS. We recruited a cohort of 154 DE patients from the Miami Veterans Affairs Hospital and defined high and low CPS groups by cluster analysis. In addition to worse non-ocular pain complaints and higher PTSD and depression scores (P<0.01), we found that the high CPS group reported more severe neuropathic-type DE symptoms compared to the low CPS group, including worse ocular pain assessed via 3 different pain scales (P<0.05), with similar objective corneal DE signs. This is the first study to demonstrate DE patients who manifest a greater number of comorbid CPS report more severe DE symptoms and features of NOP. These findings provide further evidence that NOP may represent a central pain disorder, and that shared mechanistic factors may underlie vulnerability to some forms of DE and other comorbid CPS. PMID:26606863

A one-year prospective study of refractory status epilepticus in Modena, Italy.

PubMed

Giovannini, Giada; Monti, Giulia; Polisi, Michela M; Mirandola, Laura; Marudi, Andrea; Pinelli, Giovanni; Valzania, Franco; Girardis, Massimo; Nichelli, Paolo F; Meletti, Stefano

2015-08-01

Refractory status epilepticus (RSE) is a particular critical condition characterized by seizures that continue despite the use of first- and second-line therapies and by high mortality. To date, only one prospective study investigated clinical features and prognostic factors in RSE. In this study, we performed a one-year prospective survey to identify clinical features, outcomes, and variables associated with the development of RSE in the adolescent and adult population of Modena, northern Italy. We observed 83 episodes of SE in 83 patients. In 31% of the cases, third-line therapy (anesthetic drug) was needed. Among this group, 14% resolved and were classified as RSE, while, in 17%, seizures recurred at withdrawal of anesthetics and were classified as super-RSE. The development of RSE/super-RSE was associated with a stuporous/comatose state at presentation and with the absence of a previous history of epilepsy. Refractory status epilepticus/super-refractory status epilepticus showed a worse outcome compared with responsive SE: 54% versus 21% for 30-day mortality; 19% versus 56% for a return to baseline condition. This prospective study confirms stupor/coma at onset as a relevant clinical factor associated with SE refractoriness. We observed a rate of RSE comparable with previous reports, with high mortality and morbidity. Mortality in the observed RSE was higher than in previous studies; this result is probably related to the low rate of a previous epilepsy history in our population that reflects a high incidence of acute symptomatic etiologies, especially the inclusion of patients with postanoxic SE who have a bad prognosis per se. This article is part of a Special Issue entitled "Status Epilepticus". Copyright © 2015 Elsevier Inc. All rights reserved.

Relevant incidental findings at abdominal multi-detector contrast-enhanced computed tomography: A collateral screening?

PubMed Central

Sconfienza, Luca Maria; Mauri, Giovanni; Muzzupappa, Claudia; Poloni, Alessandro; Bandirali, Michele; Esseridou, Anastassia; Tritella, Stefania; Secchi, Francesco; Di Leo, Giovanni; Sardanelli, Francesco

2015-01-01

AIM: To investigate the prevalence of relevant incidental findings (RIFs) detected during routine abdominal contrast-enhanced computed tomography (CeCT). METHODS: We retrospectively evaluated the reports of a consecutive series of abdominal CeCT studies performed between January and May 2013. For each report, patients’ age and sex, admission as inpatient or outpatient, clinical suspicion as indicated by the requesting physician, availability of a previous abdominal examination, and name of the reporting radiologist were recorded. Based on the clinical suspicion, the presence and features of any RIFs (if needing additional workup) was noted. RESULTS: One thousand forty abdominal CeCT were performed in 949 patients (528 males, mean age 66 ± 14 years). No significant difference was found between inpatients and outpatients age and sex distribution (P > 0.472). RIFs were found in 195/1040 (18.8%) CeCT [inpatients = 108/470 (23.0%); outpatients = 87/570 (15.2%); P = 0.002]. RIFs were found in 30/440 (6.8%) CeCT with a previous exam and in 165/600 (27.5%) without a previous exam (P < 0.001). Radiologists’ distribution between inpatients or outpatients was significantly different (P < 0.001). RIFs prevalence increased with aging, except for a peak in 40-49 year group. Most involved organs were kidneys, gallbladder, and lungs. CONCLUSION: A RIF is detected in 1/5 patients undergoing abdominal CeCT. Risk of overdiagnosis should be taken into account. PMID:26516432

User's Manual for LEWICE Version 3.2

NASA Technical Reports Server (NTRS)

Wright, William

2008-01-01

A research project is underway at NASA Glenn to produce a computer code which can accurately predict ice growth under a wide range of meteorological conditions for any aircraft surface. This report will present a description of the code inputs and outputs from version 3.2 of this software, which is called LEWICE. This version differs from release 2.0 due to the addition of advanced thermal analysis capabilities for de-icing and anti-icing applications using electrothermal heaters or bleed air applications, the addition of automated Navier-Stokes analysis, an empirical model for supercooled large droplets (SLD) and a pneumatic boot option. An extensive effort was also undertaken to compare the results against the database of electrothermal results which have been generated in the NASA Glenn Icing Research Tunnel (IRT) as was performed for the validation effort for version 2.0. This report will primarily describe the features of the software related to the use of the program. Appendix A has been included to list some of the inner workings of the software or the physical models used. This information is also available in the form of several unpublished documents internal to NASA. This report is intended as a replacement for all previous user manuals of LEWICE. In addition to describing the changes and improvements made for this version, information from previous manuals may be duplicated so that the user will not need to consult previous manuals to use this software.

Genome-Wide Analysis of Transposon and Retroviral Insertions Reveals Preferential Integrations in Regions of DNA Flexibility.

PubMed

Vrljicak, Pavle; Tao, Shijie; Varshney, Gaurav K; Quach, Helen Ngoc Bao; Joshi, Adita; LaFave, Matthew C; Burgess, Shawn M; Sampath, Karuna

2016-04-07

DNA transposons and retroviruses are important transgenic tools for genome engineering. An important consideration affecting the choice of transgenic vector is their insertion site preferences. Previous large-scale analyses of Ds transposon integration sites in plants were done on the basis of reporter gene expression or germ-line transmission, making it difficult to discern vertebrate integration preferences. Here, we compare over 1300 Ds transposon integration sites in zebrafish with Tol2 transposon and retroviral integration sites. Genome-wide analysis shows that Ds integration sites in the presence or absence of marker selection are remarkably similar and distributed throughout the genome. No strict motif was found, but a preference for structural features in the target DNA associated with DNA flexibility (Twist, Tilt, Rise, Roll, Shift, and Slide) was observed. Remarkably, this feature is also found in transposon and retroviral integrations in maize and mouse cells. Our findings show that structural features influence the integration of heterologous DNA in genomes, and have implications for targeted genome engineering. Copyright © 2016 Vrljicak et al.

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

PubMed

Zaidi, Syed H E; Meyer, Sascha; Peltekova, Vanya D; Lindinger, Angelika; Teebi, Ahmad S; Faiyaz-Ul-Haque, Muhammad

2009-07-01

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations in the SLC2A10 gene. In this article we describe an ATS girl of Kurdish origin who, in addition to arterial tortuosity and connective tissue features, displays stomach displacement within the thorax and bilateral hip dislocation. Clinical details of this patient have been reported previously. Sequencing of the SLC2A10 gene identified a novel homozygous non-sense c.756C>A mutation in this patient's DNA. This mutation in the SLC2A10 gene replaces a cysteine encoding codon with a stop signal. This is believed to cause a premature truncation of GLUT10 protein in this patient. We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene.

Separating Facts from Fiction: Linguistic Models to Classify Suspicious and Trusted News Posts on Twitter

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

Volkova, Svitlana; Shaffer, Kyle J.; Jang, Jin Yea

Pew research polls report 62 percent of U.S. adults get news on social media (Gottfried and Shearer, 2016). In a December poll, 64 percent of U.S. adults said that “made-up news” has caused a “great deal of confusion” about the facts of current events (Barthel et al., 2016). Fabricated stories spread in social media, ranging from deliberate propaganda to hoaxes and satire, contributes to this confusion in addition to having serious effects on global stability. In this work we build predictive models to classify 130 thousand news tweets as suspicious or verified, and predict four subtypes of suspicious news –more » satire, hoaxes, clickbait and propaganda. We demonstrate that neural network models trained on tweet content and social network interactions outperform lexical models. Unlike previous work on deception detection, we find that adding syntax and grammar features to our models decreases performance. Incorporating linguistic features, including bias and subjectivity, improves classification results, however social interaction features are most informative for finer-grained separation between our four types of suspicious news posts.« less

Neuroimaging features in subacute encephalopathy with seizures in alcoholics (SESA syndrome)

PubMed Central

Drake-Pérez, Marta; de Lucas, Enrique Marco; Lyo, John; Fernández-Torre, José L.

2017-01-01

Purpose To describe the neuroimaging findings in subacute encephalopathy with seizures in alcoholics (SESA syndrome). Methods We reviewed all cases reported previously, as well as 4 patients diagnosed in our center. We included a total of 8 patients. All subjects had clinical and EEG findings compatible with SESA syndrome and at least one MRI study that did not show other underlying condition that could be responsible for the clinical presentation. Results Initial MRI studies revealed the following features: cortical-subcortical areas of increased T2/FLAIR signal and restricted diffusion (6 patients), hyperperfusion (3 patients), atrophy (5 patients), chronic microvascular ischemic changes (4 patients). Follow-up MRI was performed in half of the patients, all showing a resolution of the hyperintense lesions, but developing focal atrophic changes in 75%. Conclusions SESA syndrome should be included among the alcohol-related encephalopathies. Its radiological features include transient cortical-subcortical T2-hyperintense areas with restricted diffusion (overlapping the typical findings in status epilepticus) observed in a patient with atrophy and chronic multifocal vascular lesions. PMID:27391464

Identification of new deep sea sinuous channels in the eastern Arabian Sea.

PubMed

Mishra, Ravi; Pandey, D K; Ramesh, Prerna; Clift, Peter D

2016-01-01

Deep sea channel systems are recognized in most submarine fans worldwide as well as in the geological record. The Indus Fan is the second largest modern submarine fan, having a well-developed active canyon and deep sea channel system. Previous studies from the upper Indus Fan have reported several active channel systems. In the present study, deep sea channel systems were identified within the middle Indus Fan using high resolution multibeam bathymetric data. Prominent morphological features within the survey block include the Raman Seamount and Laxmi Ridge. The origin of the newly discovered channels in the middle fan has been inferred using medium resolution satellite bathymetry data. Interpretation of new data shows that the highly sinuous deep sea channel systems also extend to the east of Laxmi Ridge, as well as to the west of Laxmi Ridge, as previously reported. A decrease in sinuosity southward can be attributed to the morphological constraints imposed by the elevated features. These findings have significance in determining the pathways for active sediment transport systems, as well as their source characterization. The geometry suggests a series of punctuated avulsion events leading to the present array of disconnected channels. Such channels have affected the Laxmi Basin since the Pliocene and are responsible for reworking older fan sediments, resulting in loss of the original erosional signature supplied from the river mouth. This implies that distal fan sediments have experienced significant signal shredding and may not represent the erosion and weathering conditions within the onshore basin at the time of sedimentation.

Computational study of β-N-acetylhexosaminidase from Talaromyces flavus, a glycosidase with high substrate flexibility.

PubMed

Kulik, Natallia; Slámová, Kristýna; Ettrich, Rüdiger; Křen, Vladimír

2015-01-28

β-N-Acetylhexosaminidase (GH20) from the filamentous fungus Talaromyces flavus, previously identified as a prominent enzyme in the biosynthesis of modified glycosides, lacks a high resolution three-dimensional structure so far. Despite of high sequence identity to previously reported Aspergillus oryzae and Penicilluim oxalicum β-N-acetylhexosaminidases, this enzyme tolerates significantly better substrate modification. Understanding of key structural features, prediction of effective mutants and potential substrate characteristics prior to their synthesis are of general interest. Computational methods including homology modeling and molecular dynamics simulations were applied to shad light on the structure-activity relationship in the enzyme. Primary sequence analysis revealed some variable regions able to influence difference in substrate affinity of hexosaminidases. Moreover, docking in combination with consequent molecular dynamics simulations of C-6 modified glycosides enabled us to identify the structural features required for accommodation and processing of these bulky substrates in the active site of hexosaminidase from T. flavus. To access the reliability of predictions on basis of the reported model, all results were confronted with available experimental data that demonstrated the principal correctness of the predictions as well as the model. The main variable regions in β-N-acetylhexosaminidases determining difference in modified substrate affinity are located close to the active site entrance and engage two loops. Differences in primary sequence and the spatial arrangement of these loops and their interplay with active site amino acids, reflected by interaction energies and dynamics, account for the different catalytic activity and substrate specificity of the various fungal and bacterial β-N-acetylhexosaminidases.

A case of bilateral lower cranial nerve palsies after base of skull trauma with complex management issues: case report and review of the literature.

PubMed

Lehn, Alexander Christoph; Lettieri, Jennie; Grimley, Rohan

2012-05-01

Fractures of the skull base can cause lower cranial nerve palsies because of involvement of the nerves as they traverse the skull. A variety of syndromes have been described, often involving multiple nerves. These are most commonly unilateral, and only a handful of cases of bilateral cranial nerve involvement have been reported. We describe a 64-year-old man with occipital condylar fracture complicated by bilateral palsies of IX and X nerves associated with dramatic physiological derangement causing severe management challenges. Apart from debilitating postural hypotension, he developed dysphagia, severe gastrointestinal dysmotility, issues with airway protection as well as airway obstruction, increased oropharyngeal secretions and variable respiratory control. This is the first report of a patient with traumatic bilateral cranial nerve IX and X nerve palsies. This detailed report and the summary of all 6 previous case reports of traumatic bilateral lower cranial nerve palsies illustrate clinical features, treatment strategies, and outcomes of these rare events.

Improved multimodal biomarkers for Alzheimer's disease and mild cognitive impairment diagnosis: data from ADNI

NASA Astrophysics Data System (ADS)

Martinez-Torteya, Antonio; Treviño-Alvarado, Víctor; Tamez-Peña, José

2013-02-01

The accurate diagnosis of Alzheimer's disease (AD) and mild cognitive impairment (MCI) confers many clinical research and patient care benefits. Studies have shown that multimodal biomarkers provide better diagnosis accuracy of AD and MCI than unimodal biomarkers, but their construction has been based on traditional statistical approaches. The objective of this work was the creation of accurate AD and MCI diagnostic multimodal biomarkers using advanced bioinformatics tools. The biomarkers were created by exploring multimodal combinations of features using machine learning techniques. Data was obtained from the ADNI database. The baseline information (e.g. MRI analyses, PET analyses and laboratory essays) from AD, MCI and healthy control (HC) subjects with available diagnosis up to June 2012 was mined for case/controls candidates. The data mining yielded 47 HC, 83 MCI and 43 AD subjects for biomarker creation. Each subject was characterized by at least 980 ADNI features. A genetic algorithm feature selection strategy was used to obtain compact and accurate cross-validated nearest centroid biomarkers. The biomarkers achieved training classification accuracies of 0.983, 0.871 and 0.917 for HC vs. AD, HC vs. MCI and MCI vs. AD respectively. The constructed biomarkers were relatively compact: from 5 to 11 features. Those multimodal biomarkers included several widely accepted univariate biomarkers and novel image and biochemical features. Multimodal biomarkers constructed from previously and non-previously AD associated features showed improved diagnostic performance when compared to those based solely on previously AD associated features.

Breaking object correspondence across saccades impairs object recognition: The role of color and luminance.

PubMed

Poth, Christian H; Schneider, Werner X

2016-09-01

Rapid saccadic eye movements bring the foveal region of the eye's retina onto objects for high-acuity vision. Saccades change the location and resolution of objects' retinal images. To perceive objects as visually stable across saccades, correspondence between the objects before and after the saccade must be established. We have previously shown that breaking object correspondence across the saccade causes a decrement in object recognition (Poth, Herwig, & Schneider, 2015). Color and luminance can establish object correspondence, but it is unknown how these surface features contribute to transsaccadic visual processing. Here, we investigated whether changing the surface features color-and-luminance and color alone across saccades impairs postsaccadic object recognition. Participants made saccades to peripheral objects, which either maintained or changed their surface features across the saccade. After the saccade, participants briefly viewed a letter within the saccade target object (terminated by a pattern mask). Postsaccadic object recognition was assessed as participants' accuracy in reporting the letter. Experiment A used the colors green and red with different luminances as surface features, Experiment B blue and yellow with approximately the same luminances. Changing the surface features across the saccade deteriorated postsaccadic object recognition in both experiments. These findings reveal a link between object recognition and object correspondence relying on the surface features colors and luminance, which is currently not addressed in theories of transsaccadic perception. We interpret the findings within a recent theory ascribing this link to visual attention (Schneider, 2013).

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

PubMed

Steichen-Gersdorf, Elisabeth; Lorenz-Depiereux, Bettina; Strom, Tim Matthias; Shaw, Nicholas J

2015-07-01

Autosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication rather than a part of the disease. We report two children who presented in mid to late childhood with progressive varus deformity of their legs due to hypophosphatemic rickets caused by mutations in the ENPP1 gene. Both children had evidence of progressive hearing loss requiring the use of hearing aids. This report of two unrelated infants with compound heterozygous mutations in ENPP1 and previously published cases confirms that mild to moderate hearing loss is frequently associated with ARHR2. Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia.

Affiliative and aggressive behavior in a group of female Somali wild ass (Equus africanus somalicus).

PubMed

Asa, Cheryl S; Marshall, Fiona; Fischer, Martha

2012-01-01

We observed a group of three young female Somali wild asses to develop an ethogram of social behavior in the first phase of a longer term study of social, sexual, and maternal/infant behavior. The most unexpected finding was the frequency and extent of aggressive interactions, which included Charge, Drive, Neck Wrestle, Head Butt, and Body Slam, behaviors previously reported only for males of other equid species. The overall frequency of aggressive behavior was higher than that of affiliative behavior (84±16.5 vs. 32±5.5, P=0.03), yet no injuries occurred. The dyadic directionality of aggressive behavior suggested a dominance hierarchy, a feature not previously reported for either wild ass or domestic donkeys. The aggression observed may be an accurate representation of the behavior of this species, or their relatively young ages, or their recent transfer from their natal group through quarantine and into a new enclosure may have heightened agonistic tendencies. Further studies will determine whether with time their aggressive behavior becomes more intense or dissipates with maturity. © 2011 Wiley Periodicals, Inc.

Enhanced Cycling Stability of Sulfur Electrodes through Effective Binding of Pyridine-Functionalized Polymer

DOE PAGES

Tsao, Yuchi; Chen, Zheng; Rondeau-Gagne, Simon; ...

2017-09-20

Porous carbons have previously been widely used as host materials for sulfur (S) electrodes because of their high conductivity and high surface area. However, they generally lack strong chemical affinity to stabilize polysulfide species. Therefore, conducting polymers have been employed to stabilize S electrodes. Integrating conducting polymers with high-surface-area carbons can create a new materials platform and synergize their functions. However, the previously used conducting polymers were often insoluble, and coating them uniformly from solution onto a nonpolar carbon substrate is a challenge. Here, we report that solution-processable isoindigo-based polymers incorporating polar substituents provide critical features: the conjugated backbone providesmore » good conductivity; functional pyridine groups provide high affinity to polysulfide species; and they possess high solubility in organic solvents. Here, these lead to effective coating on various carbonaceous substrates to provide highly stable sulfur electrodes. Importantly, the electrodes exhibit good capacity retention (80% over 300 cycles) at sulfur mass loading of 3.2 mg/cm 2, which significantly surpasses the performance of others reported in polymer-enabled sulfur cathodes.« less

Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.

PubMed

del Río Holgado, María; Martínez, Josep M; Gómez, Olga; Casals, Gemma; Bargalló, Nuria; Fortuny, Albert; Puerto, Bienvenido

2005-01-01

Jarcho-Levin syndrome (JLS; spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. We describe a case diagnosed during the second trimester routine ultrasound scan for screening of fetal anomalies without a previous family history. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the JLS. To the best of our knowledge there is only one case reported in the literature of a prenatal diagnosis of the syndrome in a family with low risk for the condition. Copyright (c) 2005 S. Karger AG, Basel.

Structural geologic analysis of Nevada using ERTS-1 images: A preliminary report

NASA Technical Reports Server (NTRS)

Rowan, L. C.; Wetlaufer, P. H.

1973-01-01

Structural analysis of Nevada using ERTS-1 images showns several previously unrecognized lineaments which may be the surface manifestations of major fault or fracture zones. Principle trends are NE, NW, NNE-NNW, and ENE. Two lineament zones, the Walker Lane and Midas Trench lineament system, transect the predominantly NNE-NNW trending mountain ranges for more than 500 km. 50 circular features have been delineated. Comparison with known Tertiary volcanic centers and reference to geologic maps suggest 8 new centers. Preferred distribution of mines and Tertiary volcanic centers along some of the major lineament suggests a genetic relationship. The intersection of three previously unmapped lineaments in northwestern Nevada is the location of a highly productive metallogenic district. In the Walker Lane, ENE-trending lineament appear to be related to the occurrence of productive ore deposits.

Fluorescent Recovery after Photobleaching (FRAP) Analysis of Nuclear Export Rates Identifies Intrinsic Features of Nucleocytoplasmic Transport*

PubMed Central

Cardarelli, Francesco; Tosti, Luca; Serresi, Michela; Beltram, Fabio; Bizzarri, Ranieri

2012-01-01

A quantitative description of carrier-mediated nuclear export in live cells is presented. To this end, we fused a prototypical leucine-rich nuclear export signal (NES) to GFP as a cargo model and expressed the fluorescent chimera in live CHO-K1 cells. By modeling FRAP data, we calculate the NES affinity for the export machinery and the maximum rate of nuclear export achievable at saturation of endogenous carriers. The measured active-export time through the Nuclear Pore Complex (NPC) is 18 ms, remarkably similar to the previously determined active-import rate. Also, our results reveal that active export/import and active export/passive diffusion fluxes are uncoupled, thus complementing previous reports on active import/passive diffusion uncoupling. These findings suggest differential gating at the NPC level. PMID:22190681

Rare and Common Variants Conferring Risk of Tooth Agenesis.

PubMed

Jonsson, L; Magnusson, T E; Thordarson, A; Jonsson, T; Geller, F; Feenstra, B; Melbye, M; Nohr, E A; Vucic, S; Dhamo, B; Rivadeneira, F; Ongkosuwito, E M; Wolvius, E B; Leslie, E J; Marazita, M L; Howe, B J; Moreno Uribe, L M; Alonso, I; Santos, M; Pinho, T; Jonsson, R; Audolfsson, G; Gudmundsson, L; Nawaz, M S; Olafsson, S; Gustafsson, O; Ingason, A; Unnsteinsdottir, U; Bjornsdottir, G; Walters, G B; Zervas, M; Oddsson, A; Gudbjartsson, D F; Steinberg, S; Stefansson, H; Stefansson, K

2018-05-01

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

Sixth report of the United States Geographic Board: 1890 to 1932

USGS Publications Warehouse

1933-01-01

This report contains, with the exception of a comparatively small number, all the decisions rendered by the board from its organization in 1890 through June, 1932, and supersedes all previous reports. Not included in this report are such decisions as have either been vacated, or, being revised, have been replaced by new decisions listed under the revised name or spelling.Several thousand earlier decisions for features and places in the United States, Alaska, and the Philippine Islands have been amplified, brought up to date, and made to agree in form and content with the decisions rendered in recent years.So great have been the changes since 1914 in the geographic nomenclature of the Eastern Hemisphere that the board deemed it advisable to vacate all the names as given in the fifth and earlier reports for places and features not within the United States and its outlying territories and possessions. In place of these a new list has been drawn up comprising some 2,500 of the more important names, which are in accord with the changes which have taken place since the World War. These new decisions, printed in 1932 in a separate pamphlet with the title, "First Report on Foreign Geographic Names," have been consolidated in this volume with domestic names in one alphabetical arrangement.In the fifth report the Philippine and the Hawaiian names were each separately listed at the close of that volume. In the present report, however, they are interspersed alphabetically with other names.The Board welcomes the views of map makers and of all others who are interested in geographic nomenclature as to how its decisions may be made of greater service.

Evaluation of features to support safety and quality in general practice clinical software

PubMed Central

2011-01-01

Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

Navigating neurites utilize cellular topography of Schwann cell somas and processes for optimal guidance

PubMed Central

Lopez-Fagundo, Cristina; Mitchel, Jennifer A.; Ramchal, Talisha D.; Dingle, Yu-Ting L.; Hoffman-Kim, Diane

2013-01-01

The path created by aligned Schwann cells (SCs) after nerve injury underlies peripheral nerve regeneration. We developed geometric bioinspired substrates to extract key information needed for axon guidance by deconstructing the topographical cues presented by SCs. We have previously reported materials that directly replicate SC topography with micro- and nanoscale resolution, but a detailed explanation of the means of directed axon extension on SC topography has not yet been described. Here, using neurite tracing and time-lapse microscopy, we analyzed the SC features that influence axon guidance. Novel poly(dimethylsiloxane) materials, fabricated via photolithography, incorporated bioinspired topographical components with the shapes and sizes of aligned SCs, namely somas and processes, where the length of the processes were varied but the soma geometry and dimensions were kept constant. Rat dorsal root ganglia neurites aligned to all materials presenting bioinspired topography after a 5 days in culture and to bioinspired materials presenting soma and process features after only 17 hours in culture. Key findings of this study were: Neurite response to underlying bioinspired topographical features was time dependent, where at 5 days, neurites aligned most strongly to materials presenting combinations of soma and process features, with higher than average density of either process or soma features; but at 17 hours they aligned more strongly to materials presenting average densities of soma and process features and to materials presenting process features only. These studies elucidate the influence of SC topography on axon guidance in a time-dependent setting and have implications for the optimization of nerve regeneration strategies. PMID:23557939

Assessing the dream-lag effect for REM and NREM stage 2 dreams.

PubMed

Blagrove, Mark; Fouquet, Nathalie C; Henley-Einion, Josephine A; Pace-Schott, Edward F; Davies, Anna C; Neuschaffer, Jennifer L; Turnbull, Oliver H

2011-01-01

This study investigates evidence, from dream reports, for memory consolidation during sleep. It is well-known that events and memories from waking life can be incorporated into dreams. These incorporations can be a literal replication of what occurred in waking life, or, more often, they can be partial or indirect. Two types of temporal relationship have been found to characterize the time of occurrence of a daytime event and the reappearance or incorporation of its features in a dream. These temporal relationships are referred to as the day-residue or immediate incorporation effect, where there is the reappearance of features from events occurring on the immediately preceding day, and the dream-lag effect, where there is the reappearance of features from events occurring 5-7 days prior to the dream. Previous work on the dream-lag effect has used spontaneous home recalled dream reports, which can be from Rapid Eye Movement Sleep (REM) and from non-Rapid Eye Movement Sleep (NREM). This study addresses whether the dream-lag effect occurs only for REM sleep dreams, or for both REM and NREM stage 2 (N2) dreams. 20 participants kept a daily diary for over a week before sleeping in the sleep laboratory for 2 nights. REM and N2 dreams collected in the laboratory were transcribed and each participant rated the level of correspondence between every dream report and every diary record. The dream-lag effect was found for REM but not N2 dreams. Further analysis indicated that this result was not due to N2 dream reports being shorter, in terms of number of words, than the REM dream reports. These results provide evidence for a 7-day sleep-dependent non-linear memory consolidation process that is specific to REM sleep, and accord with proposals for the importance of REM sleep to emotional memory consolidation.

Assessing the Dream-Lag Effect for REM and NREM Stage 2 Dreams

PubMed Central

Blagrove, Mark; Fouquet, Nathalie C.; Henley-Einion, Josephine A.; Pace-Schott, Edward F.; Davies, Anna C.; Neuschaffer, Jennifer L.; Turnbull, Oliver H.

2011-01-01

This study investigates evidence, from dream reports, for memory consolidation during sleep. It is well-known that events and memories from waking life can be incorporated into dreams. These incorporations can be a literal replication of what occurred in waking life, or, more often, they can be partial or indirect. Two types of temporal relationship have been found to characterize the time of occurrence of a daytime event and the reappearance or incorporation of its features in a dream. These temporal relationships are referred to as the day-residue or immediate incorporation effect, where there is the reappearance of features from events occurring on the immediately preceding day, and the dream-lag effect, where there is the reappearance of features from events occurring 5–7 days prior to the dream. Previous work on the dream-lag effect has used spontaneous home recalled dream reports, which can be from Rapid Eye Movement Sleep (REM) and from non-Rapid Eye Movement Sleep (NREM). This study addresses whether the dream-lag effect occurs only for REM sleep dreams, or for both REM and NREM stage 2 (N2) dreams. 20 participants kept a daily diary for over a week before sleeping in the sleep laboratory for 2 nights. REM and N2 dreams collected in the laboratory were transcribed and each participant rated the level of correspondence between every dream report and every diary record. The dream-lag effect was found for REM but not N2 dreams. Further analysis indicated that this result was not due to N2 dream reports being shorter, in terms of number of words, than the REM dream reports. These results provide evidence for a 7-day sleep-dependent non-linear memory consolidation process that is specific to REM sleep, and accord with proposals for the importance of REM sleep to emotional memory consolidation. PMID:22046336

Cortical-basal ganglionic degeneration.

PubMed

Riley, D E; Lang, A E; Lewis, A; Resch, L; Ashby, P; Hornykiewicz, O; Black, S

1990-08-01

We report our experience with 15 patients believed to have cortical-basal ganglionic degeneration. The clinical picture is distinctive, comprising features referable to both cortical and basal ganglionic dysfunction. Characteristic manifestations include cortical sensory loss, focal reflex myoclonus, "alien limb" phenomena, apraxia, rigidity and akinesia, a postural-action tremor, limb dystonia, hyperreflexia, and postural instability. The asymmetry of symptoms and signs is often striking. Brain imaging may demonstrate greater abnormalities contralateral to the more affected side. Postmortem studies in 2 patients revealed the characteristic pathologic features of swollen, poorly staining (achromatic) neurons and degeneration of cerebral cortex and substantia nigra. Biochemical analysis of 1 brain showed a severe, diffuse loss of dopamine in the striatum. This condition is more frequent than previously believed, and the diagnosis can be predicted during life on the basis of clinical findings. However, as with other "degenerative" diseases of the nervous system, a definitive diagnosis of cortical-basal ganglionic degeneration requires confirmation by autopsy.

Differential Impact of Message Appeals, Food Healthiness, and Poverty Status on Evaluative Responses to Nutrient-Content Claimed Food Advertisements.

PubMed

Choi, Hojoon; Reid, Leonard N

2015-01-01

A 2 × 3 × 2 mixed factorial experimental design was used to examine how three message appeals (benefit-seeking vs. risk-avoidance vs. taste appeals), food healthiness (healthy vs. unhealthy foods), and consumer poverty status (poverty vs. nonpoverty groups) impact evaluative responses to nutrient-content claimed food advertisements. Subjects were partitioned into two groups, those below and those above the poverty line, and exposed to nutrient-content claimed advertisement treatments for healthy and unhealthy foods featuring the three appeals. The findings reaffirmed the interaction effects between perceivably healthy and unhealthy foods and different appeals reported in previous studies, and found interaction effects between consumer poverty level and response to the message appeals featured in the experimental food advertisements. Age, body mass index, current dieting status, education, and gender were examined as covariates.