A test of the comet hypothesis of the Tunguska Meteor Fall - Nature of the meteor 'thermal' explosion paradox

Science.gov (United States)

Liu, V. C.

1978-01-01

The hypothesis that a comet was responsible for the Tunguska Meteor Fall is rejected because the hypothesis does not seem to account for the intense terminal spherical shock. A porous meteoroid model is proposed, and an analysis indicates that an entity of this type might produce an aerodynamic heat flux large enough to account for the terminal meteor explosion. It is suggested that the presence of olivine and of highly irregular macrostructure in meteors might indicate the presence of some porosity. For a highly porous meteoroid, it is postulated that during entry into the atmosphere the aerodynamic heat transfer at its external or pore walls would become so intensified as to cause either complete ablation with popping or a solid-liquid-vapor phase transition accompanied by an explosion.

Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot.

Science.gov (United States)

Jernigan, Eric G; Strassle, Paula D; Stebbins, Rebecca C; Meyer, Robert E; Nelson, Jennifer S

2017-08-15

A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies. Multivariable logistic regression was used to estimate the direct effect of each concomitant BD, after adjusting for all others. A total of 496 infants with TOF were included, and 15% (n = 76) died. The number of concomitant BD systems was significantly associated with the risk of death at 1-year, p < 0.0001. Specifically, the risk of mortality was 8% among infants with TOF with or without additional cardiac defects, 16% among infants with TOF and 1 extracardiac BD system, 19% among infants with 2 extracardiac BD systems, and 39% among infants with ≥ 3 extracardiac BD systems. After adjustment, concomitant eye and gastrointestinal defects were significantly associated increased with 1-year mortality, odds ratio 2.83 (95% confidence interval, 1.08-7.32) and odds ratio 4.43 (95% confidence interval, 1.57, 12.45), respectively. Infants with trisomy 13 or trisomy 18 were also significantly more likely to die, p < 0.0001. Both concomitant BDs and genetic anomalies increase the risk of mortality among infants with TOF. Future studies are needed to identify the underlying genetic and socioeconomic risk factors for high-risk TOF infants. Birth Defects Research 109:1154-1165, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Effect of Maternal Diabetes on the Embryo, Fetus, and Children: Congenital Anomalies, Genetic and Epigenetic Changes and Developmental Outcomes

Czech Academy of Sciences Publication Activity Database

Ornoy, A.; Reece, E.A.; Pavlínková, Gabriela; Kappen, C.; Miller, R.K.

2015-01-01

Roč. 105, č. 1 (2015), s. 53-72 ISSN 1542-975X R&D Projects: GA MŠk(CZ) ED1.1.00/02.0109 Institutional research plan: CEZ:AV0Z50520701 Keywords : PGDM * GDM * congenital anomalies Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.120, year: 2015

Reports on various anomalies of the ribs

Energy Technology Data Exchange (ETDEWEB)

Brinkmann, G.; Brix, F.

1988-02-01

Three patients are presented who were suffering from different anomalies of the ribs: There was one each plus and minus variant and a female patient with Gorlin-Goltz syndrome (basal cell nevus syndrome) demonstrating several changes in the ribs as an expression of a genetically determined segmentation disturbance. These presentations are followed by a detailed discussion on the types and causes of such anomalies.

Reports on various anomalies of the ribs

International Nuclear Information System (INIS)

Brinkmann, G.; Brix, F.

1988-01-01

Three patients are presented who were suffering from different anomalies of the ribs: There was one each plus and minus variant and a female patient with Gorlin-Goltz syndrome (basal cell nevus syndrome) demonstrating several changes in the ribs as an expression of a genetically determined segmentation disturbance. These presentations are followed by a detailed discussion on the types and causes of such anomalies. (orig.) [de

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun

2003-01-01

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2003-12-15

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

Fetal Kidney Anomalies: Next Generation Sequencing

DEFF Research Database (Denmark)

Rasmussen, Maria; Sunde, Lone; Nielsen, Marlene Louise

Aim and Introduction Identification of abnormal kidneys in the fetus may lead to termination of the pregnancy and raises questions about the underlying cause and recurrence risk in future pregnancies. In this study, we investigate the effectiveness of targeted next generation sequencing in fetuses...... with prenatally detected kidney anomalies in order to uncover genetic explanations and assess recurrence risk. Also, we aim to study the relation between genetic findings and post mortem kidney histology. Methods The study comprises fetuses diagnosed prenatally with bilateral kidney anomalies that have undergone...... postmortem examination. The approximately 110 genes included in the targeted panel were chosen on the basis of their potential involvement in embryonic kidney development, cystic kidney disease, or the renin-angiotensin system. DNA was extracted from fetal tissue samples or cultured chorion villus cells...

High-throughput genetic analysis in a cohort of patients with Ocular Developmental Anomalies

Directory of Open Access Journals (Sweden)

Suganya Kandeeban

2017-10-01

Full Text Available Anophthalmia and microphthalmia (A/M are developmental ocular malformations in which the eye fails to form or is smaller than normal with both genetic and environmental etiology. Microphthalmia is often associated with additional ocular anomalies, most commonly coloboma or cataract [1, 2]. A/M has a combined incidence between 1-3.2 cases per 10,000 live births in Caucasians [3, 4]. The spectrum of genetic abnormalities (chromosomal and molecular associated with these ocular developmental defects are being investigated in the current study. A detailed pedigree analysis and ophthalmic examination have been documented for the enrolled patients followed by blood collection and DNA extraction. The strategies for genetic analysis included chromosomal analysis by conventional and array based (affymetrix cytoscan HD array methods, targeted re-sequencing of the candidate genes and whole exome sequencing (WES in Illumina HiSEQ 2500. WES was done in families excluded for mutations in candidate genes. Twenty four samples (Microphthalmia (M-5, Anophthalmia (A-7,Coloboma-2, M&A-1, microphthalmia and coloboma / other ocular features-9 were initially analyzed using conventional Geimsa Trypsin Geimsa banding of which 4 samples revealed gross chromosomal aberrations (deletions in 3q26.3-28, 11p13 (N=2 and 11q23 regions. Targeted re sequencing of candidate genes showed mutations in CHX10, PAX6, FOXE3, ABCB6 and SHH genes in 6 samples. High throughput array based chromosomal analysis revealed aberrations in 4 samples (17q21dup (n=2, 8p11del (n=2. Overall, genetic alterations in known candidate genes are seen in 50% of the study subjects. Whole exome sequencing was performed in samples that were excluded for mutations in candidate genes and the results are discussed.

Comment on ”John’s stone: A possible fragment of the 1908 Tunguska meteorite” (Anfinogenov et al., 2014, Icarus 243, 139-147)

DEFF Research Database (Denmark)

Haack, Henning; Greenwood, Richard; Busemann, Henner

2016-01-01

et al. However, since sandstones can only form on a parent body with liquid water and by inference, also an atmosphere, we argue that there are only two possible parent bodies in the Solar System: the Earth and Mars. Mars can be ruled out for several reasons, including the oxygen isotopic and noble...... gas composition of John’s stone, which is clearly distinct from martian meteorites. Consistent with the O study, the noble gases do not provide any evidence for an extraterrestrial origin of the samples. The lack of any cosmogenic noble gases (particularly striking in 3He, 21Ne, 38Ar) is consistent...... with a terrestrial origin or an extraterrestrial origin under large shielding. Based on the combined evidence obtained in this study we infer that John’s stone is a terrestrial rock unrelated to the Tunguska impactor....

An unusual case of non-syndromic occurrence of multiple dental anomalies

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Suprabha B

2009-01-01

Full Text Available Dental anomalies have been known to occur in humans due to a variety of genetic and environmental factors. Combinations of dental anomalies are known to be associated with specific syndromes. A few cases of multiple dental anomalies have been reported in patients with no generalized abnormalities. This case report describes an unusual occurrence of a combination of dental anomalies in an apparently normal healthy 12-year-old female patient. The dental anomalies in this patient were multiple dens invaginatus, generalized enamel hypoplasia, generalized microdontia, root resorption and multiple periapical lesions, shovel shaped incisors, cup shaped premolars, taurodontism, hypodontia and supernumerary teeth.

Minor physical anomalies and schizophrenia spectrum disorders: a prospective investigation

DEFF Research Database (Denmark)

Schiffman, Jason; Ekstrøm, Morten; LaBrie, Joseph

2002-01-01

at high risk. RESULTS: Individuals with a high number of minor physical anomalies developed schizophrenia spectrum disorders significantly more often than they developed a no mental illness outcome. Further, individuals with a high number of minor physical anomalies tended to develop schizophrenia......OBJECTIVE: The authors prospectively assessed the relationship between minor physical anomalies identified in childhood and adult psychiatric outcome. METHOD: In 1972, minor physical anomalies were measured in a group of 265 Danish children ages 11-13. The examination was part of a larger study...... spectrum disorders more often than other psychopathology. Among individuals at genetic high risk, higher numbers of minor physical anomalies may interact with pre-existing vulnerabilities for schizophrenia to increase the likelihood of a schizophrenia spectrum disorder outcome. CONCLUSIONS: Minor physical...

Dental and oral anomalies in incontinentia pigmenti: a systematic review.

Science.gov (United States)

Minić, Snežana; Trpinac, Dušan; Gabriel, Heinz; Gencik, Martin; Obradović, Miljana

2013-01-01

Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by a mutation of the IKBKG gene. The objective of this study was to present a systematic review of the dental and oral types of anomalies, to determine the total number and sex distribution of the anomalies, and to analyze possible therapies. We analyzed the literature data from 1,286 IP cases from the period 1993-2010. Dental and/or oral anomalies were diagnosed for 54.38% of the investigated IP patients. Most of the anomaly types were dental, and the most frequent of these were dental shape anomalies, hypodontia, and delayed dentition. The most frequent oral anomaly types were cleft palate and high arched palate. IKBKG exon 4-10 deletion was present in 86.36% of genetically confirmed IP patients. According to the frequency, dental and/or oral anomalies represent the most frequent and important IP minor criteria. The most frequent mutation was IKBKG exon 4-10 deletion. The majority of dental anomalies and some of the oral anomalies could be corrected. Because of the presence of cleft palate and high arched palate in IP patients, these two anomalies may be considered as diagnostic IP minor criteria as well.

First and second trimester screening for fetal structural anomalies.

Science.gov (United States)

Edwards, Lindsay; Hui, Lisa

2018-04-01

Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies will not be evident until later in the pregnancy. To this extent, the second trimester anatomy is recommended by professional societies as the standard investigation for the detection of fetal structural anomalies. The reported detection rates of structural anomalies vary according to the organ system being examined, and are also dependent upon factors such as the equipment settings and sonographer experience. Technological advances over the past two decades continue to support the role of ultrasound as the primary imaging modality in pregnancy, and the safety of ultrasound for the developing fetus is well established. With increasing capabilities and experience, detailed examination of the central nervous system and cardiovascular system is possible, with dedicated examinations such as the fetal neurosonogram and the fetal echocardiogram now widely performed in tertiary centers. Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of congenital diaphragmatic hernia), and pre-surgical planning prior to fetal spina bifida repair. When a major structural abnormality is detected prenatally, genetic testing with chromosomal microarray is recommended over

Prevalence and distribution of dental anomalies in orthodontic patients.

Science.gov (United States)

Montasser, Mona A; Taha, Mahasen

2012-01-01

To study the prevalence and distribution of dental anomalies in a sample of orthodontic patients. The dental casts, intraoral photographs, and lateral panoramic and cephalometric radiographs of 509 Egyptian orthodontic patients were studied. Patients were examined for dental anomalies in number, size, shape, position, and structure. The prevalence of each dental anomaly was calculated and compared between sexes. Of the total study sample, 32.6% of the patients had at least one dental anomaly other than agenesis of third molars; 32.1% of females and 33.5% of males had at least one dental anomaly other than agenesis of third molars. The most commonly detected dental anomalies were impaction (12.8%) and ectopic eruption (10.8%). The total prevalence of hypodontia (excluding third molars) and hyperdontia was 2.4% and 2.8%, respectively, with similiar distributions in females and males. Gemination and accessory roots were reported in this study; each of these anomalies was detected in 0.2% of patients. In addition to genetic and racial factors, environmental factors could have more important influence on the prevalence of dental anomalies in every population. Impaction, ectopic eruption, hyperdontia, hypodontia, and microdontia were the most common dental anomalies, while fusion and dentinogenesis imperfecta were absent.

Minor physical anomalies and schizophrenia spectrum disorders: a prospective investigation

DEFF Research Database (Denmark)

Schiffman, Jason; Ekstrøm, Morten; LaBrie, Joseph

2002-01-01

OBJECTIVE: The authors prospectively assessed the relationship between minor physical anomalies identified in childhood and adult psychiatric outcome. METHOD: In 1972, minor physical anomalies were measured in a group of 265 Danish children ages 11-13. The examination was part of a larger study...... investigating early signs of schizophrenia spectrum disorders. Many of the subjects had a parent with schizophrenia, leaving them at high risk for developing a schizophrenia spectrum disorder. In 1991, adult psychiatric outcome data were obtained for 91.3% (N=242) of the original subjects, including 81 who were...... anomalies may provide important clues to understanding schizophrenia spectrum disorders from a neurodevelopmental perspective. Minor physical anomalies appear to signal stressors relevant to schizophrenia spectrum development, especially in those at genetic risk for schizophrenia....

Genetics of Congenital Heart Disease: Past and Present.

Science.gov (United States)

Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Genetic Diseases and Genetic Determinism Models in French Secondary School Biology Textbooks

Science.gov (United States)

Castera, Jeremy; Bruguiere, Catherine; Clement, Pierre

2008-01-01

The presentation of genetic diseases in French secondary school biology textbooks is analysed to determine the major conceptions taught in the field of human genetics. References to genetic diseases, and the processes by which they are explained (monogeny, polygeny, chromosomal anomaly and environmental influence) are studied in recent French…

ANOMALY DETECTION IN NETWORKING USING HYBRID ARTIFICIAL IMMUNE ALGORITHM

Directory of Open Access Journals (Sweden)

D. Amutha Guka

2012-01-01

Full Text Available Especially in today’s network scenario, when computers are interconnected through internet, security of an information system is very important issue. Because no system can be absolutely secure, the timely and accurate detection of anomalies is necessary. The main aim of this research paper is to improve the anomaly detection by using Hybrid Artificial Immune Algorithm (HAIA which is based on Artificial Immune Systems (AIS and Genetic Algorithm (GA. In this research work, HAIA approach is used to develop Network Anomaly Detection System (NADS. The detector set is generated by using GA and the anomalies are identified using Negative Selection Algorithm (NSA which is based on AIS. The HAIA algorithm is tested with KDD Cup 99 benchmark dataset. The detection rate is used to measure the effectiveness of the NADS. The results and consistency of the HAIA are compared with earlier approaches and the results are presented. The proposed algorithm gives best results when compared to the earlier approaches.

Bilateral first branchial cleft anomaly with evidence of a genetic aetiology.

Science.gov (United States)

Gonzalez-Perez, L M; Prats-Golczer, V E; Montes Carmona, J F; Heurtebise Saavedra, J M

2014-03-01

Anomalies of the first branchial cleft (FBC) are uncommon, and recognizing them can be difficult. Although present at birth, many cases do not become evident until later in childhood or adolescence, with an initial clinical presentation in adulthood being encountered only rarely. Typically, FBC anomalies present as a unilateral cyst, sinus, or fistula associated with the external auditory canal, or with swelling or an inflammatory opening in the peri-auricular/parotid area. They are commonly misdiagnosed and are often treated inadequately before being excised completely. A 40-year-old woman presented to the maxillofacial outpatient clinic with an episode of bilateral pre-auricular tumefaction, initially diagnosed as temporomandibular dysfunction syndrome. This was associated with bilateral pre-auricular pain that increased with mandibular movements. In relation to the patient's history, and given the bilateral presence of a pre-auricular pit, a diagnosis of FBC anomaly was made. Further investigation showed a related asymptomatic history in five other cases across four generations of the same family. The authors describe here the case, the diagnostic methodology, and the wide local excision technique used for removal of the branchial sinus. Copyright © 2013 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Azoospermia in a Male with Klippel-Feil Anomaly.

Science.gov (United States)

Uloko, Maria; Bearrick, Elizabeth; Bodie, Joshua

2017-07-01

Müllerian-duct aplasia, renal agenesis, and cervical somite dysplasia (MURCS) is a rare genetic disorder. Previously thought to be exclusive in females, there have now been a small number of case reports describing a male analogue. We describe a patient with obstructive azoospermia and Klippel-Feil anomaly.

Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system

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Ilanna Fragoso Peixoto Gazzaneo

2016-03-01

Full Text Available Abstract Objective: To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. Methods: Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype, hormone levels and genitourinary ultrasound for basic evaluation. Laparoscopy, gonadal biopsy and molecular studies were performed in specific cases. Patients with genitourinary malformations were classified as genitourinary anomalies (GUA, whereas the others, as Disorders of Sex Differentiation (DSD. Chi-square, Fisher and Kruskal–Wallis tests were used for statistical analysis and comparison between groups. Results: 80 subjects met the inclusion criteria, 91% with DSD and 9% with isolated/syndromic GUA. The age was younger in the GUA group (p<0.02, but these groups did not differ regarding external and internal genitalia, as well as karyotype. Karyotype 46,XY was verified in 55% and chromosomal aberrations in 17.5% of cases. Ambiguous genitalia occurred in 45%, predominantly in 46,XX patients (p<0.006. Disorders of Gonadal Differentiation accounted for 25% and congenital adrenal hyperplasia, for 17.5% of the sample. Consanguinity occurred in 16%, recurrence in 12%, lack of birth certificate in 20% and interrupted follow-up in 31% of cases. Conclusions: Patients with DSD predominated. Ambiguous genitalia and abnormal sexual differentiation were more frequent among infants and prepubertal individuals. Congenital adrenal hyperplasia was the most prevalent nosology. Younger patients were more common in the GUA group. Abandonment and lower frequency of birth certificate occurred in patients with ambiguous or malformed genitalia. These characteristics corroborate the literature and show the biopsychosocial impact of genitourinary anomalies.

The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.

Science.gov (United States)

Riccardi, V M; Grum, C M

1977-01-01

The genetic, clinical, and necropsy findings of 2 brothers with the prune belly anomaly are presented and the literature reviewed. The combined data emphasise the clinical and genetic heterogeneity of the disorder and show that in at least some instances a heritable component may be the primary insult. The most likely heritable explanation involves a two-step autosomal dominant mutation with sex-limited expression that partially mimics X-linkage. PMID:144797

The mirror world interpretation of the 1908 Tunguska event and other more recent events

OpenAIRE

Foot, R.

2001-01-01

Mirror matter is predicted to exist if parity (i.e. left-right symmetry) is a symmetry of nature. Remarkably mirror matter is capable of simply explaining a large number of contemporary puzzles in astrophysics and particle physics including: Explanation of the MACHO gravitational microlensing events, the existence of close-in extrasolar gas giant planets, apparently `isolated' planets, the solar, atmospheric and LSND neutrino anomalies, the orthopositronium lifetime anomaly and perhaps even g...

Dental anomalies in pediatric patients with familial adenomatous polyposis.

Science.gov (United States)

Septer, Seth; Bohaty, Brenda; Onikul, Robin; Kumar, Vandana; Williams, Karen B; Attard, Thomas M; Friesen, Craig A; Friesen, Lynn Roosa

2018-04-01

Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body. The control group was identified from a retrospective chart review and selected if there was a current panoramic radiograph. The only significant difference between familial adenomatous polyposis patients and controls were the presence of jaw osteomas and sclerosis (p = .0001). Patients with a mutation in, or upstream of codon 1309 had a higher frequency of osteomas (77.8%) and jaw-bone sclerosis (44.4%), and 77% of these had at least one dental anomaly. This preliminary study showed an association between a genetic variant at, or upstream of codon 1309, and radiographic dental anomalies.

Gravitational anomalies

Energy Technology Data Exchange (ETDEWEB)

Leutwyler, H; Mallik, S

1986-12-01

The effective action for fermions moving in external gravitational and gauge fields is analyzed in terms of the corresponding external field propagator. The central object in our approach is the covariant energy-momentum tensor which is extracted from the regular part of the propagator at short distances. It is shown that the Lorentz anomaly, the conformal anomaly and the gauge anomaly can be expressed in terms of the local polynomials which determine the singular part of the propagator. (There are no coordinate anomalies). Except for the conformal anomaly, for which we give explicit representations only in dless than or equal to4, we consider an arbitrary number of dimensions.

A hybrid approach for efficient anomaly detection using metaheuristic methods

Directory of Open Access Journals (Sweden)

Tamer F. Ghanem

2015-07-01

Full Text Available Network intrusion detection based on anomaly detection techniques has a significant role in protecting networks and systems against harmful activities. Different metaheuristic techniques have been used for anomaly detector generation. Yet, reported literature has not studied the use of the multi-start metaheuristic method for detector generation. This paper proposes a hybrid approach for anomaly detection in large scale datasets using detectors generated based on multi-start metaheuristic method and genetic algorithms. The proposed approach has taken some inspiration of negative selection-based detector generation. The evaluation of this approach is performed using NSL-KDD dataset which is a modified version of the widely used KDD CUP 99 dataset. The results show its effectiveness in generating a suitable number of detectors with an accuracy of 96.1% compared to other competitors of machine learning algorithms.

Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

Energy Technology Data Exchange (ETDEWEB)

Freire-Maia, A [Faculdade de Ciencias Medicas e Biologicas de Botucatu (Brazil). Departamento de Genetica

1974-01-01

The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general.

Holonomy anomalies

International Nuclear Information System (INIS)

Bagger, J.; Nemeschansky, D.; Yankielowicz, S.

1985-05-01

A new type of anomaly is discussed that afflicts certain non-linear sigma models with fermions. This anomaly is similar to the ordinary gauge and gravitational anomalies since it reflects a topological obstruction to the reparametrization invariance of the quantum effective action. Nonlinear sigma models are constructed based on homogeneous spaces G/H. Anomalies arising when the fermions are chiral are shown to be cancelled sometimes by Chern-Simons terms. Nonlinear sigma models are considered based on general Riemannian manifolds. 9 refs

Anomalies

International Nuclear Information System (INIS)

Bardeen, W.A.

1985-08-01

Anomalies have a diverse impact on many aspects of physical phenomena. The role of anomalies in determining physical structure from the amplitude for π 0 decay to the foundations of superstring theory will be reviewed. 36 refs

Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

International Nuclear Information System (INIS)

Freire-Maia, A.

1974-01-01

The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general [pt

Anomaly-free models for flavour anomalies

Science.gov (United States)

Ellis, John; Fairbairn, Malcolm; Tunney, Patrick

2018-03-01

We explore the constraints imposed by the cancellation of triangle anomalies on models in which the flavour anomalies reported by LHCb and other experiments are due to an extra U(1)^' gauge boson Z^' . We assume universal and rational U(1)^' charges for the first two generations of left-handed quarks and of right-handed up-type quarks but allow different charges for their third-generation counterparts. If the right-handed charges vanish, cancellation of the triangle anomalies requires all the quark U(1)^' charges to vanish, if there are either no exotic fermions or there is only one Standard Model singlet dark matter (DM) fermion. There are non-trivial anomaly-free models with more than one such `dark' fermion, or with a single DM fermion if right-handed up-type quarks have non-zero U(1)^' charges. In some of the latter models the U(1)^' couplings of the first- and second-generation quarks all vanish, weakening the LHC Z^' constraint, and in some other models the DM particle has purely axial couplings, weakening the direct DM scattering constraint. We also consider models in which anomalies are cancelled via extra vector-like leptons, showing how the prospective LHC Z^' constraint may be weakened because the Z^' → μ ^+ μ ^- branching ratio is suppressed relative to other decay modes.

Risk factors for congenital anomalies in high risk pregnant women: A ...

African Journals Online (AJOL)

Tella Sunitha

2016-05-14

May 14, 2016 ... genital malformations cannot be linked to a specific cause. BOH implies ... results were interpreted on the basis of Immune Status Ratio. (ISR) index ... lar System disorders [atrial and ventricular septal defects, pericardial .... Family H/o congenital anomalies/mental retardation/genetic diseases. Yes. 36(10).

Anomalias dentárias associadas: o ortodontista decodificando a genética que rege os distúrbios de desenvolvimento dentário Associated dental anomalies: the orthodontist decoding the genetics which regulates the dental development disturbances

Directory of Open Access Journals (Sweden)

Daniela Gamba Garib

2010-04-01

Full Text Available O presente trabalho versa sobre o diagnóstico e a abordagem ortodôntica das anomalias dentárias, enfatizando os aspectos etiológicos que definem tais irregularidades de desenvolvimento. Parece existir uma inter-relação genética na determinação de algumas dessas anomalias, considerando-se a alta frequência de associações. Um mesmo defeito genético pode originar diferentes manifestações fenotípicas, incluindo agenesias, microdontias, ectopias e atraso no desenvolvimento dentário. As implicações clínicas das anomalias dentárias associadas são muito relevantes, uma vez que o diagnóstico precoce de uma determinada anomalia dentária pode alertar o clínico sobre a possibilidade de desenvolvimento de outras anomalias associadas no mesmo paciente ou em outros membros da família, permitindo a intervenção ortodôntica em época oportuna.This article aims to approach the diagnosis and orthodontic intervention of the dental anomalies, emphasizing the etiological aspects which define these developmental irregularities. It seems to exist a genetic inter-relationship determining some dental anomalies, considering the high frequency of associations. The same genetic defect may give rise to different phenotypes, including tooth agenesis, microdontia, ectopias and delayed dental development. The clinical implications of the associated dental anomalies are relevant, since early detection of a single dental anomaly may call the attention of professionals to the possible development of other associated anomalies in the same patient or in the family, allowing timely orthodontic intervention.

Global gravitational anomalies

International Nuclear Information System (INIS)

Witten, E.

1985-01-01

A general formula for global gauge and gravitational anomalies is derived. It is used to show that the anomaly free supergravity and superstring theories in ten dimensions are all free of global anomalies that might have ruined their consistency. However, it is shown that global anomalies lead to some restrictions on allowed compactifications of these theories. For example, in the case of O(32) superstring theory, it is shown that a global anomaly related to π 7 (O(32)) leads to a Dirac-like quantization condition for the field strength of the antisymmetric tensor field. Related to global anomalies is the question of the number of fermion zero modes in an instanton field. It is argued that the relevant gravitational instantons are exotic spheres. It is shown that the number of fermion zero modes in an instanton field is always even in ten dimensional supergravity. (orig.)

Kohn anomalies in superconductors

International Nuclear Information System (INIS)

Flatte, M.E.

1994-01-01

The detailed behavior of phonon dispersion curves near momenta which span the electronic Fermi sea in a superconductor is presented. An anomaly, similar to the metallic Kohn anomaly, exists in a superconductor's dispersion curves when the frequency of the photon spanning the Fermi sea exceeds twice the superconducting energy gap. This anomaly occurs at approximately the same momentum but is stronger than the normal-state Kohn anomaly. It also survives at finite temperature, unlike the metallic anomaly. Determination of Fermi-surface diameters from the location of these anomalies, therefore, may be more successful in the superconducting phase than in the normal state. However, the superconductor's anomaly fades rapidly with increased phonon frequency and becomes unobservable when the phonon frequency greatly exceeds the gap. This constraint makes these anomalies useful only in high-temperature superconductors such as La 1.85 Sr 0.15 CuO 4

[Congenital anomalies of cerebral artery and intracranial aneurysm].

Science.gov (United States)

Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

1976-02-01

It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

Introduction to anomalies

International Nuclear Information System (INIS)

Alvarez-Gaume, L.

1986-01-01

These lectures are dedicated to the study of the recent progress and implications of anomalies in quantum field theory. In this introduction the author recapitulates some of the highlights in the history of the subject. The outline of these lectures is as follows: Section II contains a quick review of spinors in Euclidean and Minkowski space, some other group theory results relevant for the computation of anomalies in various dimensions, and an exposition of the index theorem. Section III starts the analysis of fermion determinants and chiral effective actions by deriving the non-Abelian anomaly from index theory. Using the results of Section II, the anomaly cancellation recently discovered by Green and Schwarz will be presented in Section IV as well as the connection of these results of Section III with the descent equations and the Wess-Zumino-Witten Lagrangians. Section V contains the generalization of anomalies to σ-models and some of its application in string theory. Section VI will deal with the anomalies from the Hamiltonian point of view. An exact formula for the imaginary part of the effective action for chiral fermions in the presence of arbitrary external gauge and gravitational fields will be derived in Section VII, and used in Section VIII for the study of global anomalies. 85 references

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

Science.gov (United States)

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Algebraic structure of chiral anomalies

International Nuclear Information System (INIS)

Stora, R.

1985-09-01

I will describe first the algebraic aspects of chiral anomalies, exercising however due care about the topological delicacies. I will illustrate the structure and methods in the context of gauge anomalies and will eventually make contact with results obtained from index theory. I will go into two sorts of generalizations: on the one hand, generalizing the algebraic set up yields e.g. gravitational and mixed gauge anomalies, supersymmetric gauge anomalies, anomalies in supergravity theories; on the other hand most constructions applied to the cohomologies which characterize anomalies easily extend to higher cohomologies. Section II is devoted to a description of the general set up as it applies to gauge anomalies. Section III deals with a number of algebraic set ups which characterize more general types of anomalies: gravitational and mixed gauge anomalies, supersymmetric gauge anomalies, anomalies in supergravity theories. It also includes brief remarks on σ models and a reminder on the full BRST algebra of quantized gauge theories

Chiral anomalies and differential geometry

International Nuclear Information System (INIS)

Zumino, B.

1983-10-01

Some properties of chiral anomalies are described from a geometric point of view. Topics include chiral anomalies and differential forms, transformation properties of the anomalies, identification and use of the anomalies, and normalization of the anomalies. 22 references

Clustering and Recurring Anomaly Identification: Recurring Anomaly Detection System (ReADS)

Science.gov (United States)

McIntosh, Dawn

2006-01-01

This viewgraph presentation reviews the Recurring Anomaly Detection System (ReADS). The Recurring Anomaly Detection System is a tool to analyze text reports, such as aviation reports and maintenance records: (1) Text clustering algorithms group large quantities of reports and documents; Reduces human error and fatigue (2) Identifies interconnected reports; Automates the discovery of possible recurring anomalies; (3) Provides a visualization of the clusters and recurring anomalies We have illustrated our techniques on data from Shuttle and ISS discrepancy reports, as well as ASRS data. ReADS has been integrated with a secure online search

Tracheobronchial Branching Anomalies

International Nuclear Information System (INIS)

Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick; Park, A Young

2010-01-01

There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

Tracheobronchial Branching Anomalies

Energy Technology Data Exchange (ETDEWEB)

Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick [Soonchunhyang University, Cheonan Hospital, Cheonan (Korea, Republic of); Park, A Young [Soonchunhyang University College of Medicine, Asan (Korea, Republic of)

2010-04-15

There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

Branchial anomalies in children.

Science.gov (United States)

Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

2011-08-01

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type

Genetics Home Reference: Miller syndrome

Science.gov (United States)

... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

Genetics Home Reference: genitopatellar syndrome

Science.gov (United States)

... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

Exotic Meteoritic Phenomena: The Tunguska Event and Anomalous Low Altitude Fireballs - Manifestations of the Mirror World ?

International Nuclear Information System (INIS)

Foot, R.; Yoon, T.L.

2002-01-01

There are a number of very puzzling meteoritic events including (a) The Tunguska event. It is the only known example of a low altitude atmospheric explosion. It is also the largest recorded event. Remarkably no fragments or significant chemical traces have ever been recovered. (b) Anomalous low altitude fireballs which (in some cases) have been observed to hit the ground. The absence of fragments is particularly striking in these cases, but this is not the only reason they are anomalous. The other main puzzling feature is the lack of a consistent trajectory: low altitude fireballs, if caused by an ordinary cosmic body penetrating the Earth's atmosphere, should have been extremely luminous at high altitudes. But in these anomalous cases this is (remarkably) not observed to occur !. On the other hand, there is strong evidence that most of our galaxy is made from exotic dark material - ''dark matter''. Mirror matter is one well motivated dark matter candidate, since it is dark and stable and it is required to exist if particle interactions are mirror symmetric. If mirror matter is the dark matter, then some amount must exist in our solar system. Although there is not much room for a large amount of mirror matter in the inner solar system, numerous small asteroid sized mirror matter objects are a fascinating possibility because they can potentially collide with the Earth. We demonstrate that the mirror matter theory allows for a simple explanation for the puzzling meteoritic events [both (a) and (b)] if they are due to mirror matter space-bodies. A direct consequence of this explanation is that mirror matter fragments should exist in (or on) the ground at various impact sites. The properties of this potentially recoverable material depend importantly on the sign of the photon-mirror photon kinetic mixing parameter, ε. We argue that the broad characteristics of the anomalous events suggests that ε is probably negative. Strategies for detecting mirror matter in the

External ear anomalies and hearing impairment in Noonan Syndrome.

Science.gov (United States)

van Trier, Dorothée C; van Nierop, Josephine; Draaisma, Jos M Th; van der Burgt, Ineke; Kunst, Henricus; Croonen, Ellen A; Admiraal, Ronald J C

2015-06-01

This is the first cohort in which hearing impairment and external ear anomalies in Noonan Syndrome are described extensively. Retrospective analysis of the otorhinolaryngological and clinical genetic data from 97 Noonan Syndrome (NS) patients. Forty-four NS patients were seen by an otorhinolaryngologist for the analysis of hearing impairment. In our cohort 80 of the 97 patients were genetically tested. In 71 of these mutations were found: in 48 patients a mutation in PTPN11, in 10 patients in SOS1, in 5 patients in SHOC2, in 5 patients in RAF1, in 1 patient in MAP2K2, in 1 patient in KRAS and in 1 patient in A2ML1. External ear anomalies were reported in 75 NS patients (77%). In 69 patients the ears were low-set, 28 patients had posteriorly rotated ears, 14 patients showed protruding ears and 18 had thickened helices. Hearing impairment was detected in 34 NS patients. Nine patients had sensorineural hearing impairment, two a permanent conductive hearing impairment, two other patients had mixed hearing impairment and 20 patients had conductive hearing impairment in the past, caused by otitis media with effusion. Their temporary conductive hearing impairment resolved between the ages of 2 and 18 years. Sensorineural hearing impairment varied between mild high-frequency hearing impairment and profound (uni- and bilateral) hearing impairment and was progressive in three patients. Four NS patients received cochlear implants for their severe sensorineural hearing impairment. The cohort is small for genotype-phenotype correlations, but sensorineural hearing impairment, especially the bilateral severe hearing impairment, was only seen in patients with a PTPN11 mutation. NS is characterized by dysmorphic external ear anomalies and both sensorineural and conductive hearing impairment. Audiological examinations are recommended in all patients with Noonan Syndrome. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Genetic studies in congenital anterior midline cervical cleft

DEFF Research Database (Denmark)

Jakobsen, L P; Pfeiffer, P; Andersen, M

2012-01-01

Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

Agenesis of maxillary lateral incisors and associated dental anomalies.

Science.gov (United States)

Garib, Daniela Gamba; Alencar, Bárbara Maria; Lauris, José Roberto Pereira; Baccetti, Tiziano

2010-06-01

The objectives of this study were to evaluate the prevalence of dental anomalies in patients with agenesis of maxillary lateral incisors and to compare the findings with the prevalence of these anomalies in the general population. A sample of 126 patients, aged 7 to 35 years, with agenesis of at least 1 maxillary lateral incisor was selected. Panoramic and periapical radiographs and dental casts were used to analyze other associated dental anomalies, including agenesis of other permanent teeth, ectopia of unerupted permanent teeth, microdontia of maxillary lateral incisors, and supernumerary teeth. The occurrence of these anomalies was compared with prevalence data previously reported for the general population. Statistical testing was performed with the chi-square test (P <0.05) and the odds ratio. Patients with maxillary lateral incisor agenesis had a significantly increased prevalence rate of permanent tooth agenesis (18.2%), excluding the third molars. The occurrence of third-molar agenesis in a subgroup aged 14 years or older (n = 76) was 35.5%. The frequencies of maxillary second premolar agenesis (10.3%), mandibular second premolar agenesis (7.9%), microdontia of maxillary lateral incisors (38.8%), and distoangulation of mandibular second premolars (3.9%) were significantly increased in our sample compared with the general population. In a subgroup of patients aged 10 years or older (n = 115), the prevalence of palatally displaced canines was elevated (5.2%). The prevalences of mesioangulation of mandibular second molars and supernumerary teeth were not higher in the sample. Permanent tooth agenesis, maxillary lateral incisor microdontia, palatally displaced canines, and distoangulation of mandibular second premolars are frequently associated with maxillary lateral incisor agenesis, providing additional evidence of a genetic interrelationship in the causes of these dental anomalies. 2010 American Association of Orthodontists. Published by Mosby, Inc. All

Using EVT for Geological Anomaly Design and Its Application in Identifying Anomalies in Mining Areas

Directory of Open Access Journals (Sweden)

Feilong Qin

2016-01-01

Full Text Available A geological anomaly is the basis of mineral deposit prediction. Through the study of the knowledge and characteristics of geological anomalies, the category of extreme value theory (EVT to which a geological anomaly belongs can be determined. Associating the principle of the EVT and ensuring the methods of the shape parameter and scale parameter for the generalized Pareto distribution (GPD, the methods to select the threshold of the GPD can be studied. This paper designs a new algorithm called the EVT model of geological anomaly. These study data on Cu and Au originate from 26 exploration lines of the Jiguanzui Cu-Au mining area in Hubei, China. The proposed EVT model of the geological anomaly is applied to identify anomalies in the Jiguanzui Cu-Au mining area. The results show that the model can effectively identify the geological anomaly region of Cu and Au. The anomaly region of Cu and Au is consistent with the range of ore bodies of actual engineering exploration. Therefore, the EVT model of the geological anomaly can effectively identify anomalies, and it has a high indicating function with respect to ore prospecting.

Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

Science.gov (United States)

Janssens, S; Defoort, P; Vandenbroecke, C; Scheffer, H; Mortier, G

2008-01-01

We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.

Science.gov (United States)

Solomon, Benjamin D; Raam, Manu S; Pineda-Alvarez, Daniel E

2011-06-01

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.

Radiologic analysis of congenital limb anomalies

International Nuclear Information System (INIS)

Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

1994-01-01

Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

Dental Anomalies: An Update

Directory of Open Access Journals (Sweden)

Fatemeh Jahanimoghadam

2016-01-01

Full Text Available Dental anomalies are usual congenital malformation that can happen either as isolated findings or as a part of a syndrome. Developmental anomalies influencing the morphology exists in both deciduous and permanent dentition and shows different forms such as gemination, fusion, concrescence, dilaceration, dens evaginatus (DE, enamel pearls, taurodontism or peg-shaped laterals. All These anomalies have clinical significance concerning aesthetics, malocclusion and more necessary preparing of the development of dental decays and oral diseases. Through a search in PubMed, Google, Scopus and Medline, a total of eighty original research papers during 1928-2016 were found with the keywords such as dental anomaly, syndrome, tooth and hypodontia. One hundred review titles were identified, eighty reviews were retrieved that were finally included as being relevant and of sufficient quality. In this review, dental anomalies including gemination, fusion, concrescence, dilaceration, dens invaginatus, DE, taurodontism, enamel pearls, fluorosis, peg-shaped laterals, dentinal dysplasia, regional odontodysplasia and hypodontia are discussed. Diagnosing dental abnormality needs a thorough evaluation of the patient, involving a medical, dental, familial and clinical history. Clinical examination and radiographic evaluation and in some of the cases, specific laboratory tests are also needed. Developmental dental anomalies require careful examination and treatment planning. Where one anomaly is present, clinicians should suspect that other anomalies may also be present. Moreover, careful clinical and radiographical examination is required. Furthermore, more complex cases need multidisciplinary planning and treatment.

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

The Holographic Weyl anomaly

CERN Document Server

Henningson, M; Henningson, Mans; Skenderis, Kostas

1998-01-01

We calculate the Weyl anomaly for conformal field theories that can be described via the adS/CFT correspondence. This entails regularizing the gravitational part of the corresponding supergravity action in a manner consistent with general covariance. Up to a constant, the anomaly only depends on the dimension d of the manifold on which the conformal field theory is defined. We present concrete expressions for the anomaly in the physically relevant cases d = 2, 4 and 6. In d = 2 we find for the central charge c = 3 l/ 2 G_N in agreement with considerations based on the asymptotic symmetry algebra of adS_3. In d = 4 the anomaly agrees precisely with that of the corresponding N = 4 superconformal SU(N) gauge theory. The result in d = 6 provides new information for the (0, 2) theory, since its Weyl anomaly has not been computed previously. The anomaly in this case grows as N^3, where N is the number of coincident M5 branes, and it vanishes for a Ricci-flat background.

MAGSAT anomaly map and continental drift

Science.gov (United States)

Lemouel, J. L. (Principal Investigator); Galdeano, A.; Ducruix, J.

1981-01-01

Anomaly maps of high quality are needed to display unambiguously the so called long wave length anomalies. The anomalies were analyzed in terms of continental drift and the nature of their sources is discussed. The map presented confirms the thinness of the oceanic magnetized layer. Continental magnetic anomalies are characterized by elongated structures generally of east-west trend. Paleomagnetic reconstruction shows that the anomalies found in India, Australia, and Antarctic exhibit a fair consistency with the African anomalies. It is also shown that anomalies are locked under the continents and have a fixed geometry.

The incidence of genetic disorders in children and young adults

International Nuclear Information System (INIS)

Anderson, T.W.; Baird, P.A.; Lowry, R.B.; Newcombe, H.B.

1987-11-01

Current estimates of the genetic risks from exposure to ionizing radiation are based on two kinds of data: a) incidence rates in humans for the genetic diseases that are believed to be present in the population due to mutations of natural origin, and b) radiation induced mutation rates. One necessary prerequisite before any possible increase in genetic load from mutagens can be estimated is baseline information on the magnitude of genetically-caused ill health already present in the population. The present study utilizes the data base of an ongoing population-based Registry with multiple sources of ascertainment to estimate the present population load from genetic disease. It was found that 4.9% of liveborn individuals below 25 can be expected to have genetic or partly genetic diseases. This was composed of single-gene disorders (autosomal dominant, autosomal recessive and X-linked recessive), chromosomal anomalies and multifactorial disorders (including those present at birth and those later in onset). Since previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, data are also presented separately for this category to facilitate comparison with earlier studies. These new data should represent a better estimate of the genetic load in the population than previous studies

Global aspects of gauge anomalies

International Nuclear Information System (INIS)

Zhang, H.

1988-01-01

This dissertation discusses the global aspects of gauge anomalies in even dimensions. After a very brief description of local gauge anomalies, the possible global gauge anomalies for various gauge theories are discussed using homotopy theory. One of the main results obtained in a general formula for the SU(n - k) global gauge anomaly coefficient in arbitrary 2n dimensions. The result is expressed in terms of the James number of the Stiefel manifold SU(n + 1)/SU(n - k) and the generalized Dynkin indices. From this, the possibilities of SU(n), SU(n - 1), and SU(2) global gauge anomalies in arbitrary 2n dimensions have been determined. We have also determined the possibilities of global gauge anomalies for the gauge groups SP(2N) and SO(N) in certain general dimensions, as well as for the exceptional gauge groups in specific dimensions. Moreover, several general propositions are formulated and proved which are very useful in the study of global gauge anomalies

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

International Nuclear Information System (INIS)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

2017-01-01

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

Energy Technology Data Exchange (ETDEWEB)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

2017-12-15

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Anomalies on orbifolds

Energy Technology Data Exchange (ETDEWEB)

Arkani-Hamed, Nima; Cohen, Andrew G.; Georgi, Howard

2001-03-16

We discuss the form of the chiral anomaly on an S1/Z2 orbifold with chiral boundary conditions. We find that the 4-divergence of the higher-dimensional current evaluated at a given point in the extra dimension is proportional to the probability of finding the chiral zero mode there. Nevertheless the anomaly, appropriately defined as the five dimensional divergence of the current, lives entirely on the orbifold fixed planes and is independent of the shape of the zero mode. Therefore long distance four dimensional anomaly cancellation ensures the consistency of the higher dimensional orbifold theory.

First branchial groove anomaly.

Science.gov (United States)

Kumar, M; Hickey, S; Joseph, G

2000-06-01

First branchial groove anomalies are very rare. We report a case of a first branchial groove anomaly presented as an infected cyst in an 11-month-old child. Management of such lesions is complicated because of their close association with the facial nerve. Surgical management must include identification and protection of the facial nerve. Embryology and facial nerve disposition in relation to the anomaly are reviewed.

Mirror Objects in the Solar System?

International Nuclear Information System (INIS)

Silagadze, Z.K.

2002-01-01

This talk was given at the Tunguska-2001 international conference but it is not about the Tunguska event. Instead we tried to give some flavor of mirror matter, which is predicted to exist if parity is an unbroken symmetry of nature, to non-experts. The possible connection of the mirror matter ideas to the Tunguska phenomenon was indicated by Foot and Gninenko some time ago and was elaborated by Foot in the separate talk at this conference. If the mirror world interpretation of the Tunguska like events is indeed correct then the most fascinating (but very speculative) possibility is that some well known celestial bodies with strange properties are in fact made mostly from mirror matter, and so maybe the mirror world was discovered long ago and we just have not suspected this. (author)

Methods to estimate the genetic risk

International Nuclear Information System (INIS)

Ehling, U.H.

1989-01-01

The estimation of the radiation-induced genetic risk to human populations is based on the extrapolation of results from animal experiments. Radiation-induced mutations are stochastic events. The probability of the event depends on the dose; the degree of the damage dose not. There are two main approaches in making genetic risk estimates. One of these, termed the direct method, expresses risk in terms of expected frequencies of genetic changes induced per unit dose. The other, referred to as the doubling dose method or the indirect method, expresses risk in relation to the observed incidence of genetic disorders now present in man. The advantage of the indirect method is that not only can Mendelian mutations be quantified, but also other types of genetic disorders. The disadvantages of the method are the uncertainties in determining the current incidence of genetic disorders in human and, in addition, the estimasion of the genetic component of congenital anomalies, anomalies expressed later and constitutional and degenerative diseases. Using the direct method we estimated that 20-50 dominant radiation-induced mutations would be expected in 19 000 offspring born to parents exposed in Hiroshima and Nagasaki, but only a small proportion of these mutants would have been detected with the techniques used for the population study. These methods were used to predict the genetic damage from the fallout of the reactor accident at Chernobyl in the vicinity of Southern Germany. The lack of knowledge for the interaction of chemicals with ionizing radiation and the discrepancy between the high safety standards for radiation protection and the low level of knowledge for the toxicological evaluation of chemical mutagens will be emphasized. (author)

Frequency changes of inherited anomalies in the Republic of Belarus after the Chernobyl accident

Energy Technology Data Exchange (ETDEWEB)

Lazjuk, G.I.; Kirillova, I.A.; Nikolaev, D.L.; Novikova, I.V.; Fomina, Z.N.; Khmel, R.D. [Belarus Institute for Hereditary Diseases, Minsk (Belarus)

1995-12-31

Complex cytogenetic, embryologic and clinical studies of possible genetic consequences of the Chernobyl nuclear accident for the population of Belarus have been carried out. They showed that groups of the population (pregnant women, fetuses, school children) had received biologically significant doses of radiation, as assessed by the registration of ring and dicentric chromosomes in blood lymphocytes. The study of more than 22,000 embryos and fetuses, and of 4090 neonates with compulsory registered congenital malformations, showed a considerable increase of anomalies of intrauterine origin since 1987. They correlated with the level of {sup 137}Cs contamination in the areas, but did not correlate with the preconception dose to the mother from the same radionuclide. Teratogenic effects of the Chernobyl pollution have not been conclusively idenitifed. The increase of embryonal anomalies was mainly due to the group of multifactorial defects, and to the anomalies with a large contribution from dominant mutations. The Down`s syndrome incidence showed to increase. (Author).

Genetic study of congenital limb anomalies among Egyptian children

African Journals Online (AJOL)

All cases were selected from among patients attending the outpatient medical genetics clinic, faculty of medicine, Ain-Shams university, Cairo-Egypt. Enrolled cases were subjected to a list of investigations including complete history with pedigree construction, anthropometric measurements and full clinical examination.

Normative framework for the protection against genetic discrimination in Serbia

Directory of Open Access Journals (Sweden)

Petrušić Nevena

2015-01-01

Full Text Available The paper is devoted to a normative framework of protection against genetic discrimination in the legal system of the Republic of Serbia, contained in the Law on Patients Rights, as of 2013 and in the Law on Prevention and diagnostics of genetic disorders, genetically conditioned anomalies and rare diseases, as of 2015. The analysis has shown that the rules on protection of the genetic data and the use of genetic samples, which are crucially important for prevention of genetic discrimination, have not been harmonized with contemporary ethical and legal standards. The contents of the Article 9 of the Law on Prevention and diagnostics of genetic disorders, genetically conditioned anomalies and rare diseases reduces the scope and level of protection against genetic discrimination in relation to the protection, given by the General Antidiscrimination Law. The legal definition of the genetic discrimination notion is not comprehensive, clear or precise, either, so it causes confusions, which, additionally, make the application of anti-discrimination regulations more difficult. Having in mind the harmful effects caused by the genetic discrimination, there is a need to eliminate the observed normative failures in due time and enable people to enjoy the benefits, provided by genetic investigations, without the fear from discrimination. In order to prevent the genetic discrimination, it is necessary to work on both information providing and raising awareness about the genetic privacy and the genetic discrimination problem, but also on promotion of the social justice and development of sensibility for bioethical challenges brought by the new age.

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

DEFF Research Database (Denmark)

Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

2012-01-01

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.

Science.gov (United States)

Barik, Mayadhar; Mishra, Pravash R; Mohapatra, Ashok Kumar

2018-01-01

Split cord malformation (SCM) is associated with extensive vertebral fusions (Klippel-Feil anomaly). In light of previous embryological theories and recent research findings, we attempt to document the origin of split cord, and vertebral fusions involvement of spectrum of genes is necessary to know better the etiopathogenesis of SCM and its associated diseases. We used the various databases such as PubMed/MEDLINE, Cochrane Review, Hinari, and Google Scholar for the recently published medical literature. The women had been living and still born infants had SCM. The relative risk (RR) and possible molecular mechanism are described details of major genes and its variants in details. Although molecular genetics involvement including with recent advances of study add an evidence of both Mendelian and Non-Mendelian fashion is discussed with all genetic components. We mentioned our earlier experience and responsibility of SCM and its associated diseases. Although different mechanisms are suggested for the development of SCM observed in our experience, there is a midline lesion bisecting the neuroepithelium and the notochordal plate, which is responsible for complete splitting of the cervical cord with anterior bony defect. The localized disturbance of cervical neural tube closure accounts for SCM with partial dorsal splitting of the cord with posterior vertebral defect and associated diseases. According to the best of our knowledge, this report is the first one to be documented by wider spectrum of variants from (experimental studies to human subject). This add a complex interaction of mutant variants drive toward an additional second-hit alterations for the SCM. The up-to-date information, documented in proper order, derived the bench-to-bedside approach to overcome this burden of SCM, which is globally noticed with other additional diseases.

Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.

Science.gov (United States)

Panny, A; Glurich, I; Haws, R M; Acharya, A

2017-11-01

Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental anomalies are present in a majority of individuals affected by BBS due to abnormal embryonic orofacial and tooth development. Genetically encoded intrinsic oral structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities confound oral health management. Since the comorbid spectrum of BBS phenotypes spans diabetes, renal disease, obesity, sleep apnea, cardiovascular disease, and cognitive disorders, a broad spectrum of collateral oral disease may be encountered. The genetic impact of BBS on the anatomic development of oral components and oral pathology encountered in the context of various BBS phenotypes and their associated comorbidities are reviewed herein. Challenges encountered in managing patients with BBS are highlighted, emphasizing the spectrum of oral pathology associated with heterogeneous clinical phenotypic expression. Guidelines for provision of care across the spectrum of BBS clinical phenotypes are considered. Establishment of integrated medical-dental delivery models of oral care in the context of rare diseases is emphasized, including involvement of caregivers in the context of managing these patients with special needs.

Space weather and space anomalies

Directory of Open Access Journals (Sweden)

L. I. Dorman

2005-11-01

Full Text Available A large database of anomalies, registered by 220 satellites in different orbits over the period 1971-1994 has been compiled. For the first time, data from 49 Russian Kosmos satellites have been included in a statistical analysis. The database also contains a large set of daily and hourly space weather parameters. A series of statistical analyses made it possible to quantify, for different satellite orbits, space weather conditions on the days characterized by anomaly occurrences. In particular, very intense fluxes (>1000 pfu at energy >10 MeV of solar protons are linked to anomalies registered by satellites in high-altitude (>15000 km, near-polar (inclination >55° orbits typical for navigation satellites, such as those used in the GPS network, NAVSTAR, etc. (the rate of anomalies increases by a factor ~20, and to a much smaller extent to anomalies in geostationary orbits, (they increase by a factor ~4. Direct and indirect connections between anomaly occurrence and geomagnetic perturbations are also discussed.

6d, Coulomb branch anomaly matching

Science.gov (United States)

Intriligator, Kenneth

2014-10-01

6d QFTs are constrained by the analog of 't Hooft anomaly matching: all anomalies for global symmetries and metric backgrounds are constants of RG flows, and for all vacua in moduli spaces. We discuss an anomaly matching mechanism for 6d theories on their Coulomb branch. It is a global symmetry analog of Green-Schwarz-West-Sagnotti anomaly cancellation, and requires the apparent anomaly mismatch to be a perfect square, . Then Δ I 8 is cancelled by making X 4 an electric/magnetic source for the tensor multiplet, so background gauge field instantons yield charged strings. This requires the coefficients in X 4 to be integrally quantized. We illustrate this for theories. We also consider the SCFTs from N small E8 instantons, verifying that the recent result for its anomaly polynomial fits with the anomaly matching mechanism.

Renal anomalies in congenital heart disease

International Nuclear Information System (INIS)

Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

1987-01-01

In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

The Study of Congenital Anomalies Resulting in Legal Termination of Pregnancy in Iran

Directory of Open Access Journals (Sweden)

Saeid Dastgiri

2015-08-01

Full Text Available Background and objectives : Safe pregnancy is among the goals and missions of reproductive health which has an important part in Millennium Development Goals. Unfortunately, bad conditions in reproductive health are the major cause of women mortality in fertility age all over the world especially in developing countries. Congenital anomalies are pregnancy problems that in case of early diagnosis, the anomaly will be done according to list 51. The aim of this study was to determine families’ demographic situations, frequency of congenital anomalies types and the factors of legally termination of pregnancy to suggest solutions in order to reduce anomalies and promote reproductive health. Material and Methods : This is a case-control study carried out for 1 year period from 2010 to 2011 in which 603 pregnant women that were diagnosed/recommended to the Legal Medicine Organization for the termination of pregnancy as having a fetus with some types of birth defect(s. Among them, 201 were categorized as case group (receiving termination permission because their pregnancy was before week 20 and 402 of them were categorized as control group 1 (not receiving termination permission because their pregnancy was after week 20 and 200 women as control group 2 who referred to Alzahra hospital to give childbirth. A questionnaire containing demographic and geographical information was made for all the women in those three groups. Results : The average age of mothers in this study was 27.2 years (15-47 years old. In 100 % of women, at least 1 ultrasound examination was performed and genetic and Amniocentesis tests were conducted in 2.1 % and 3.5 % respectively in order to diagnose anomaly. In total, 33 % of pregnant women with congenital anomalies received pregnancy termination permission. The majority of congenital anomalies were neural tube defects 16.9 %, hydrocephaly 8.6 %, limb deformation 7.7 % and Down syndrome 6.4 %. Mother’s age, the history of

Optimal hydrogenerator governor tuning with a genetic algorithm

International Nuclear Information System (INIS)

Lansberry, J.E.; Wozniak, L.; Goldberg, D.E.

1992-01-01

Many techniques exist for developing optimal controllers. This paper investigates genetic algorithms as a means of finding optimal solutions over a parameter space. In particular, the genetic algorithm is applied to optimal tuning of a governor for a hydrogenerator plant. Analog and digital simulation methods are compared for use in conjunction with the genetic algorithm optimization process. It is shown that analog plant simulation provides advantages in speed over digital plant simulation. This speed advantage makes application of the genetic algorithm in an actual plant environment feasible. Furthermore, the genetic algorithm is shown to possess the ability to reject plant noise and other system anomalies in its search for optimizing solutions

Situs anomalies on prenatal MRI

International Nuclear Information System (INIS)

Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M.; Prayer, Daniela

2012-01-01

Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs.

RARE BRANCHIAL ARCH ANOMALIES

Directory of Open Access Journals (Sweden)

Jayanta Kumar

2016-03-01

Full Text Available AIM Amongst the branchial arch anomalies third arch anomaly occurs rarely and more so the fourth arch anomalies. We present our experience with cases of rare branchial arch anomalies. PATIENTS AND METHODS From June 2006 to January 2016, cases having their external opening in the lower third of sternocleidomastoid muscle with the tract going through thyroid gland and directing to pyriform sinus (PFS or cysts with internal opening in the PFS were studied. RESULTS No fourth arch anomaly was encountered. One cyst with internal opening which later on formed a fistula, three fistulae from beginning and two sinuses were encountered. The main stay of diagnosis was the fistula in the PFS and the tract lying posterior to the internal carotid artery. Simple excision technique with a small incision around the external opening was done. There was no recurrence. CONCLUSION Third arch fistula is not very rare as it was thought. Internal fistula is found in most of the cases. Though radiological investigations are helpful, fistulae can be diagnosed clinically and during operation. Extensive operation of the neck, mediastinum and pharynx is not required.

Algorithms for Anomaly Detection - Lecture 1

CERN Multimedia

CERN. Geneva

2017-01-01

The concept of statistical anomalies, or outliers, has fascinated experimentalists since the earliest attempts to interpret data. We want to know why some data points don’t seem to belong with the others: perhaps we want to eliminate spurious or unrepresentative data from our model. Or, the anomalies themselves may be what we are interested in: an outlier could represent the symptom of a disease, an attack on a computer network, a scientific discovery, or even an unfaithful partner. We start with some general considerations, such as the relationship between clustering and anomaly detection, the choice between supervised and unsupervised methods, and the difference between global and local anomalies. Then we will survey the most representative anomaly detection algorithms, highlighting what kind of data each approach is best suited to, and discussing their limitations. We will finish with a discussion of the difficulties of anomaly detection in high-dimensional data and some new directions for anomaly detec...

Algorithms for Anomaly Detection - Lecture 2

CERN Multimedia

CERN. Geneva

2017-01-01

The concept of statistical anomalies, or outliers, has fascinated experimentalists since the earliest attempts to interpret data. We want to know why some data points don’t seem to belong with the others: perhaps we want to eliminate spurious or unrepresentative data from our model. Or, the anomalies themselves may be what we are interested in: an outlier could represent the symptom of a disease, an attack on a computer network, a scientific discovery, or even an unfaithful partner. We start with some general considerations, such as the relationship between clustering and anomaly detection, the choice between supervised and unsupervised methods, and the difference between global and local anomalies. Then we will survey the most representative anomaly detection algorithms, highlighting what kind of data each approach is best suited to, and discussing their limitations. We will finish with a discussion of the difficulties of anomaly detection in high-dimensional data and some new directions for anomaly detec...

Road Anomalies Detection System Evaluation.

Science.gov (United States)

Silva, Nuno; Shah, Vaibhav; Soares, João; Rodrigues, Helena

2018-06-21

Anomalies on road pavement cause discomfort to drivers and passengers, and may cause mechanical failure or even accidents. Governments spend millions of Euros every year on road maintenance, often causing traffic jams and congestion on urban roads on a daily basis. This paper analyses the difference between the deployment of a road anomalies detection and identification system in a “conditioned” and a real world setup, where the system performed worse compared to the “conditioned” setup. It also presents a system performance analysis based on the analysis of the training data sets; on the analysis of the attributes complexity, through the application of PCA techniques; and on the analysis of the attributes in the context of each anomaly type, using acceleration standard deviation attributes to observe how different anomalies classes are distributed in the Cartesian coordinates system. Overall, in this paper, we describe the main insights on road anomalies detection challenges to support the design and deployment of a new iteration of our system towards the deployment of a road anomaly detection service to provide information about roads condition to drivers and government entities.

The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery.

Science.gov (United States)

Mahon, Nicola A; Joyce, Cormac W; Thomas, Sangeetha; Concannon, Elizabeth; Murray, Dylan

2015-09-01

Citation analysis is a recognized scientometric method of classifying cited articles according to the frequency of which they have been referenced. The total number of citations an article receives is considered to reflect it's significance among it's peers. Until now, a bibliometric analysis has never been performed in the specialty of craniofacial anomalies and craniofacial surgery. This citation analysis generates an extensive list of the 50 most influential papers in this developing field. Journals specializing in craniofacial surgery, maxillofacial surgery, plastic surgery, neurosurgery, genetics and pediatrics were searched to demonstrate which articles have cultivated the specialty within the past 55 years. The results show an intriguing compilation of papers which outline the fundamental knowledge of craniofacial anomalies and the developments of surgical techniques to manage these patients. This citation analysis provides a summation of the current most popular trends in craniofacial literature. These esteemed papers aid to direct our decision making today within this specialty.

Congenital hand anomalies in Upper Egypt

Directory of Open Access Journals (Sweden)

Tarek Abulezz

2016-01-01

Full Text Available Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. Patients and Methods: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. Results: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered. The mean age of presentation was 6 years and female to male ratio was 1.46:1. Hand anomalies were either isolated, associated with other anomalies or part of a syndrome. Conclusion: Incidence of congenital hand anomalies in Upper Egypt is difficult to be estimated due to social and cultural concepts, lack of education, poor registration and deficient medical survey. Management of hand anomalies should be individualised, carefully planned and started as early as possible to achieve the best outcome.

Hamiltonian Anomalies from Extended Field Theories

Science.gov (United States)

Monnier, Samuel

2015-09-01

We develop a proposal by Freed to see anomalous field theories as relative field theories, namely field theories taking value in a field theory in one dimension higher, the anomaly field theory. We show that when the anomaly field theory is extended down to codimension 2, familiar facts about Hamiltonian anomalies can be naturally recovered, such as the fact that the anomalous symmetry group admits only a projective representation on the Hilbert space, or that the latter is really an abelian bundle gerbe over the moduli space. We include in the discussion the case of non-invertible anomaly field theories, which is relevant to six-dimensional (2, 0) superconformal theories. In this case, we show that the Hamiltonian anomaly is characterized by a degree 2 non-abelian group cohomology class, associated to the non-abelian gerbe playing the role of the state space of the anomalous theory. We construct Dai-Freed theories, governing the anomalies of chiral fermionic theories, and Wess-Zumino theories, governing the anomalies of Wess-Zumino terms and self-dual field theories, as extended field theories down to codimension 2.

Consanguinity and genetic disorders: Profile from Jordan

International Nuclear Information System (INIS)

Hamamy, Hanan A.; Ajlouni, Kamel M.; Masri, Amira T.; Al-Hadidy, Azmy M.

2007-01-01

With 20-30% of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The objective of this study is to define the specific categories of genetic disorders associated with consanguineous marriages. Etiological categories and consanguinity rates were studied among 623 families with genetic syndromes, congenital anomalies or mental retardation, or both, seen at the National Center for Diabetes, Endocrinology and Genetics for the period August 2002 to August 2006. Comparisons were made for first cousin marriage rates in the study group and that for the general population. First cousin marriages constituted 69%, 22% and 41.7% of marriages among families with autosomal recessive conditions (group 1), dominant, X-linked and chromosomal conditions (group 2) and sporadic undiagnosed conditions (group 3) respectively. The differences in the rates of the first cousin matings were highly significant when comparing known figures in the general population with group 1 and 3, but not significant with group 2. Two messages to the public and health care personnel regarding consanguinity can be derived from this study. The first message is that among genetic disorders, only autosomal recessive disorders are strongly associated with consanguinity. The second message is that approximately 30% of sporadic undiagnosed cases of mental retardation, congenital anomalies and dimorphism may have an autosomal recessive etiology with risks of recurrence in future pregnancies. (author)

Formation of Si-Al-Mg-Ca-rich zoned magnetite in an end-Permian phreatomagmatic pipe in the Tunguska Basin, East Siberia

Science.gov (United States)

Neumann, Else-Ragnhild; Svensen, Henrik H.; Polozov, Alexander G.; Hammer, Øyvind

2017-12-01

Magma-sediment interactions in the evaporite-rich Tunguska Basin resulted in the formation of numerous phreatomagmatic pipes during emplacement of the Siberian Traps. The pipes contain magnetite-apatite deposits with copper and celestine mineralization. We have performed a detailed petrographic and geochemical study of magnetite from long cores drilled through three pipe breccia structures near Bratsk, East Siberia. The magnetite samples are zoned and rich in Si (≤5.3 wt% SiO2), Ca, Al, and Mg. They exhibit four textural types: (1) massive ore in veins, (2) coating on breccia clasts, (3) replacement ore, and (4) reworked ore at the crater base. The textural types have different chemical characteristics. "Breccia coating" magnetite has relatively low Mg content relative to Si, as compared to the other groups, and appears to have formed at lower oxygen fugacity. Time series analyses of MgO variations in microprobe transects across Si-bearing magnetite in massive ore indicate that oscillatory zoning in the massive ore was controlled by an internal self-organized process. We suggest that hydrothermal Fe-rich brines were supplied from basalt-sediment interaction zones in the evaporite-rich sedimentary basin, leading to magnetite ore deposition in the pipes. Hydrothermal fluid composition appears to be controlled by proximity to dolerite fragments, temperature, and oxygen fugacity. Magnetite from the pipes has attributes of iron oxide-apatite deposits (e.g., textures, oscillatory zoning, association with apatite, and high Si content) but has higher Mg and Ca content and different mineral assemblages. These features are similar to magnetite found in skarn deposits. We conclude that the Siberian Traps-related pipe magnetite deposit gives insight into the metamorphic and hydrothermal effects following magma emplacement in a sedimentary basin.

Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

Science.gov (United States)

Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

2014-01-01

Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

Analysis of Renal Anomalies in VACTERL Association

OpenAIRE

Cunningham, Bridget K.; Khromykh, Alina; Martinez, Ariel F.; Carney, Tyler; Hadley, Donald W.; Solomon, Benjamin D.

2014-01-01

VACTERL association refers to a combination of congenital anomalies that can include: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula with esophageal atresia, Renal anomalies (typically structural renal anomalies), and Limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least 3 component features of VACTERL and who had ab...

Sea surface temperature anomalies in the Arabian Sea

Digital Repository Service at National Institute of Oceanography (India)

RameshKumar, M.R.

temperature anomalies for the above regions respectively. An analysis has shown that most of the short duration anomalies (i.e., anomalies with periods less than 4 months) are driven by the surface heat fluxes. The medium duration anomalies (i.e., anomalies...

Anomalies and gravity

International Nuclear Information System (INIS)

Mielke, Eckehard W.

2006-01-01

Anomalies in Yang-Mills type gauge theories of gravity are reviewed. Particular attention is paid to the relation between the Dirac spin, the axial current j5 and the non-covariant gauge spin C. Using diagrammatic techniques, we show that only generalizations of the U(1)- Pontrjagin four-form F and F = dC arise in the chiral anomaly, even when coupled to gravity. Implications for Ashtekar's canonical approach to quantum gravity are discussed

Fivebrane gravitational anomalies

International Nuclear Information System (INIS)

Becker, Katrin; Becker, Melanie

2000-01-01

Freed, Harvey, Minasian and Moore (FHMM) have proposed a mechanism to cancel the gravitational anomaly of the M-theory fivebrane coming from diffeomorphisms acting on the normal bundle. This procedure is based on a modification of the conventional M-theory Chern-Simons term. We apply the FHMM mechanism in the ten-dimensional type IIA theory. We then analyze the relation to the anomaly cancellation mechanism for the type IIA fivebrane proposed by Witten

Mondini defect in association with multiple congenital anomalies.

Science.gov (United States)

Sekhar, H K; Sachs, M

1976-01-01

A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

Analyticity properties of Graham-Witten anomalies

International Nuclear Information System (INIS)

Asnin, Vadim

2008-01-01

Analytic properties of Graham-Witten anomalies are considered. Weyl anomalies according to their analytic properties are of type A (coming from δ-singularities in correlators of several energy-momentum tensors) or of type B (originating in counterterms which depend logarithmically on a mass scale). It is argued that all Graham-Witten anomalies can be divided into two groups, internal and external, and that all external anomalies are of type B, whereas among internal anomalies there is one term of type A and all the rest are of type B. This argument is checked explicitly for the case of a free scalar field in a six-dimensional space with a two-dimensional submanifold

Aeromagnetic anomalies over faulted strata

Science.gov (United States)

Grauch, V.J.S.; Hudson, Mark R.

2011-01-01

High-resolution aeromagnetic surveys are now an industry standard and they commonly detect anomalies that are attributed to faults within sedimentary basins. However, detailed studies identifying geologic sources of magnetic anomalies in sedimentary environments are rare in the literature. Opportunities to study these sources have come from well-exposed sedimentary basins of the Rio Grande rift in New Mexico and Colorado. High-resolution aeromagnetic data from these areas reveal numerous, curvilinear, low-amplitude (2–15 nT at 100-m terrain clearance) anomalies that consistently correspond to intrasedimentary normal faults (Figure 1). Detailed geophysical and rock-property studies provide evidence for the magnetic sources at several exposures of these faults in the central Rio Grande rift (summarized in Grauch and Hudson, 2007, and Hudson et al., 2008). A key result is that the aeromagnetic anomalies arise from the juxtaposition of magnetically differing strata at the faults as opposed to chemical processes acting at the fault zone. The studies also provide (1) guidelines for understanding and estimating the geophysical parameters controlling aeromagnetic anomalies at faulted strata (Grauch and Hudson), and (2) observations on key geologic factors that are favorable for developing similar sedimentary sources of aeromagnetic anomalies elsewhere (Hudson et al.).

Holographic entanglement entropy and gravitational anomalies

NARCIS (Netherlands)

Castro, A.; Detournay, S.; Iqbal, N.; Perlmutter, E.

2014-01-01

We study entanglement entropy in two-dimensional conformal field theories with a gravitational anomaly. In theories with gravity duals, this anomaly is holographically represented by a gravitational Chern-Simons term in the bulk action. We show that the anomaly broadens the Ryu-Takayanagi minimal

Toward Baseline Software Anomalies in NASA Missions

Science.gov (United States)

Layman, Lucas; Zelkowitz, Marvin; Basili, Victor; Nikora, Allen P.

2012-01-01

In this fast abstract, we provide preliminary findings an analysis of 14,500 spacecraft anomalies from unmanned NASA missions. We provide some baselines for the distributions of software vs. non-software anomalies in spaceflight systems, the risk ratings of software anomalies, and the corrective actions associated with software anomalies.

Branchial anomalies in the pediatric population.

Science.gov (United States)

Schroeder, James W; Mohyuddin, Nadia; Maddalozzo, John

2007-08-01

We sought to review the presentation, evaluation, and treatment of branchial anomalies in the pediatric population and to relate these findings to recurrences and complications. We conducted a retrospective study at a tertiary care pediatric hospital. Ninety-seven pediatric patients who were treated for branchial anomalies over a 10-year period were reviewed. Patients were studied if they underwent surgical treatment for the branchial anomaly and had 1 year of postoperative follow-up; 67 children met criteria, and 74 anomalies were studied. Patients with cysts presented at a later age than did those with branchial anomaly fistulas or sinus branchial anomalies. 32% of branchial anomalies were previously infected. Of these, 71% had more than one preoperative infection. 18% of the BA were first arch derivatives, 69% were second arch derivatives and 7% were third arch derivatives. There were 22 branchial cysts, 31 branchial sinuses and 16 branchial fistulas. The preoperative and postoperative diagnoses differed in 17 cases. None of the excised specimens that contained a cystic lining recurred; all five recurrences had multiple preoperative infections. Recurrence rates are increased when there are multiple preoperative infections and when there is no epithelial lining identified in the specimen.

Dynamical supersymmetry breaking and gauge anomalies

International Nuclear Information System (INIS)

Zhang, H.

1991-01-01

Some aspects of supersymmetric gauge theories are discussed. It is shown that dynamical supersymmetry breaking does not occur in supersymmetric QED in higher dimensions. The cancellation of both local (perturbative) and global (non-perturbative) gauge anomalies are also discussed in supersymmetric gauge theories. We argue that there is no dynamical supersymmetry breaking in higher dimensions in any supersymmetric gauge theories free of gauge anomalies. It is also shown that for supersymmetric gauge theories in higher dimensions with a compact connected simple gauge group, when the local anomaly-free condition is satisfied, there can be at most a possible Z 2 global gauge anomaly in extended supersymmetric SO(10) (or spin (10)) gauge theories in D=10 dimensions containing additional Weyl fermions in a spinor representation of SO(10) (or spin (10)). In four dimensions with local anomaly-free condition satisfied, the only possible global gauge anomalies in supersymmetric gauge theories are Z 2 global gauge anomalies for extended supersymmetric SP(2N) (N=rank) gauge theories containing additional Weyl fermions in a representation of SP(2N) with an odd 2nd-order Dynkin index. (orig.)

On Newton-Cartan trace anomalies

International Nuclear Information System (INIS)

Auzzi, Roberto; Baiguera, Stefano; Nardelli, Giuseppe

2016-01-01

We classify the trace anomaly for parity-invariant non-relativistic Schrödinger theories in 2+1 dimensions coupled to background Newton-Cartan gravity. The general anomaly structure looks very different from the one in the z=2 Lifshitz theories. The type A content of the anomaly is remarkably identical to that of the relativistic 3+1 dimensional case, suggesting the conjecture that an a-theorem should exist also in the Newton-Cartan context.

On Newton-Cartan trace anomalies

Energy Technology Data Exchange (ETDEWEB)

Auzzi, Roberto [Dipartimento di Matematica e Fisica, Università Cattolica del Sacro Cuore,Via Musei 41, 25121 Brescia (Italy); INFN Sezione di Perugia,Via A. Pascoli, 06123 Perugia (Italy); Baiguera, Stefano [Dipartimento di Matematica e Fisica, Università Cattolica del Sacro Cuore,Via Musei 41, 25121 Brescia (Italy); Nardelli, Giuseppe [Dipartimento di Matematica e Fisica, Università Cattolica del Sacro Cuore,Via Musei 41, 25121 Brescia (Italy); TIFPA - INFN, c/o Dipartimento di Fisica, Università di Trento,38123 Povo (Italy)

2016-02-01

We classify the trace anomaly for parity-invariant non-relativistic Schrödinger theories in 2+1 dimensions coupled to background Newton-Cartan gravity. The general anomaly structure looks very different from the one in the z=2 Lifshitz theories. The type A content of the anomaly is remarkably identical to that of the relativistic 3+1 dimensional case, suggesting the conjecture that an a-theorem should exist also in the Newton-Cartan context.

Coronary Artery Anomalies in Animals

Directory of Open Access Journals (Sweden)

Brian A. Scansen

2017-04-01

Full Text Available Coronary artery anomalies represent a disease spectrum from incidental to life-threatening. Anomalies of coronary artery origin and course are well-recognized in human medicine, but have received limited attention in veterinary medicine. Coronary artery anomalies are best described in the dog, hamster, and cow though reports also exist in the horse and pig. The most well-known anomaly in veterinary medicine is anomalous coronary artery origin with a prepulmonary course in dogs, which limits treatment of pulmonary valve stenosis. A categorization scheme for coronary artery anomalies in animals is suggested, dividing these anomalies into those of major or minor clinical significance. A review of coronary artery development, anatomy, and reported anomalies in domesticated species is provided and four novel canine examples of anomalous coronary artery origin are described: an English bulldog with single left coronary ostium and a retroaortic right coronary artery; an English bulldog with single right coronary ostium and transseptal left coronary artery; an English bulldog with single right coronary ostium and absent left coronary artery with a prepulmonary paraconal interventricular branch and an interarterial circumflex branch; and a mixed-breed dog with tetralogy of Fallot and anomalous origin of all coronary branches from the brachiocephalic trunk. Coronary arterial fistulae are also described including a coronary cameral fistula in a llama cria and an English bulldog with coronary artery aneurysm and anomalous shunting vessels from the right coronary artery to the pulmonary trunk. These examples are provided with the intent to raise awareness and improve understanding of such defects.

Ferret Workflow Anomaly Detection System

National Research Council Canada - National Science Library

Smith, Timothy J; Bryant, Stephany

2005-01-01

The Ferret workflow anomaly detection system project 2003-2004 has provided validation and anomaly detection in accredited workflows in secure knowledge management systems through the use of continuous, automated audits...

Asymmetry and discordance for congenital anomalies in conjoined twins: a report of six cases.

Science.gov (United States)

Ornoy, A; Navot, D; Menashi, M; Laufer, N; Chemke, J

1980-10-01

Six pairs of conjoined twins have been studied. The first case was a pair of 13-week-old omphalopagus fetuses. One was a holoacradius amorphus and the other had rachischisis and anencephaly. The second case was a pair of omphalopagus twins. One of the twins was macerated and corresponded to a developmental age of 13-14 weeks, while the other was developed to 28-30 weeks of gestation and exhibited urogenital and gastrointestinal defects not found in the smaller twin. In the third case, that of a thoracoomphalopagus, one had cleft lip and palate, pulmonic stenosis, and atresia of the ileocecal valve, while the other did not show these anomalies. In the fourth cae, also omphalopagus twins, one had a lumbosacral meningomyelocele and severe gastrointestinal and urogenital anomalies not found in the second twin. The fifth case was a pair of thoracoomphalopagus twins, sharing a common heart with asymmetrical anomalies. The sixth case was a diprosopus anencephalic conjoined twin. The first pairs of conjoined twins were discordant for several abnormalities in nonshared organs, in addition to having abnormalities of the conjoined organs. It seems that discordance in conjoined twins is not a rare finding. The factors that play a role in discordance of anomalies in conjoined twins are probably similar to the factors in monozygotic twins--i.e., environmental, genetic, and abnormal placental and/or fetal circulation.

Impact of parental ages and other characteristics at childbearing on congenital anomalies: Results for the Czech Republic, 2000-2007

Directory of Open Access Journals (Sweden)

Jitka Rychtarikova

2013-01-01

Full Text Available BACKGROUND If the impact of maternal age at childbearing on congenital anomalies is well-known for the occurrence of Down syndrome, less is known concerning its effects on other major anomalies. Information is even scarcer for the possible effects of other maternal characteristics and of age of the father. OBJECTIVE We present new results on the associations between parental ages and other maternal characteristics, on the one hand, and congenital anomalies, on the other hand, using data linkage between three Czech registries on mother, newborn, and malformations, for the period 2000-2007. METHODS As the variables are in categorical format, binary logistic regression is used in order to investigate the relationship between presence/absence of a congenital anomaly, for each of the eleven types of anomalies considered, and the set of predictors. RESULTS This research confirms the impact of a higher age of the mother on Down syndrome and on other chromosomal anomalies. Paternal age is not associated with chromosomal anomalies and, in this Czech population, has a rather slight effect on some of the congenital anomalies examined. Another finding of the present study is the possible role of various other maternal characteristics on congenital malformations. CONCLUSIONS Based on a large data set, this study concludes that both parental ages can be associated with congenital anomalies of the child, and that maternal characteristics other than age have also to be considered. COMMENTS Risk factors can be tentatively proposed if they are based on a plausible and suitably tested explanatory mechanism. Unfortunately, in the majority of individual cases of congenital anomaly, the cause of the condition is still unknown and suspected to be an interaction of multiple environmental and genetic factors.

Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone

Energy Technology Data Exchange (ETDEWEB)

Leonard, C.M. [Univ. of Florida Health Science Center, Gainesville, FL (United States); Hauser, P.; Weintraub, B.D. [National Institute of Mental Health, Bethesda, MD (United States)]|[Baltimore VA Medical Center, MD (United States)] [and others

1995-06-19

Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl`s transverse gyri (primary auditory cortex) were noted. There was a significantly increased frequency of anomalous Sylvian fissures in the left hemisphere in males with RTH (AM: 70%; AF: 30%; UM: 28% UF: 28%). Also, there was an increased frequency of anomalous Sylvian fissures on the left combined with multiple Heschl`s gyri in either hemisphere in males with RTH (AM: 50%; AF: 9%; UM: 6%; UF: 0%). However, RTH subjects with anomalies did not have an increased frequency of ADHD as compared with RTH subjects with no anomalies. Abnormal thyroid hormone action in the male fetus early during brain development may be associated with grossly observable cerebral anomalies of the left hemisphere. The effects of mutations in the thyroid receptor beta gene provide a model system for studying the complex interaction of genetic and non-genetic factors on brain and behavioral development. 19 refs., 2 figs., 2 tabs.

Distribution of branchial anomalies in a paediatric Asian population.

Science.gov (United States)

Teo, Neville Wei Yang; Ibrahim, Shahrul Izham; Tan, Kun Kiaang Henry

2015-04-01

The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies. This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review. A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification. The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly.

Coronary anomalies: what the radiologist should know*

Science.gov (United States)

Neves, Priscilla Ornellas; Andrade, Joalbo; Monção, Henry

2015-01-01

Coronary anomalies comprise a diverse group of malformations, some of them asymptomatic with a benign course, and the others related to symptoms as chest pain and sudden death. Such anomalies may be classified as follows: 1) anomalies of origination and course; 2) anomalies of intrinsic coronary arterial anatomy; 3) anomalies of coronary termination. The origin and the proximal course of anomalous coronary arteries are the main prognostic factors, and interarterial course or a coronary artery is considered to be malignant due its association with increased risk of sudden death. Coronary computed tomography angiography has become the reference method for such an assessment as it detects not only anomalies in origination of these arteries, but also its course in relation to other mediastinal structures, which plays a relevant role in the definition of the therapeutic management. Finally, it is essential for radiologists to recognize and characterize such anomalies. PMID:26379322

A review of non-strabismic accommodative and vergence anomalies in school-age children. Part 2: Accommodative anomalies

Directory of Open Access Journals (Sweden)

Samuel O. Wajuihian

2015-08-01

Full Text Available Comfortable reading and the performance of related near point activities involve efficient accommodative and vergence systems. However, accommodative and convergence anomalies are associated with various symptoms of asthenopia that impair efficient near point tasks. In Part 1 of this two-part article, studies on vergence anomalies were reviewed. In the current paper (Part 2, anomalies of accommodation are reviewed. The aims of the latter paper were to derive the prevalence and distribution estimates of anomalies of accommodation in school-age children and address variations in the study methods and findings. Despite variations in the study methods and findings, anomalies of accommodation are prevalent among school-age populations. Variations and limitations of previous studies are discussed and recommendations for improving future studies are suggested.

Anomaly coefficients: Their calculation and congruences

International Nuclear Information System (INIS)

Braden, H.W.

1988-01-01

A new method for the calculation of anomaly coefficients is presented. For su(n) some explicit and general expressions are given for these. In particular, certain congruences are discovered and investigated among the leading anomaly coefficients. As an application of these congruences, the absence of global six-dimensional gauge anomalies is shown

The reactor antineutrino anomalies

Energy Technology Data Exchange (ETDEWEB)

Haser, Julia; Buck, Christian; Lindner, Manfred [Max-Planck-Institut fuer Kernphysik, Heidelberg (Germany)

2016-07-01

Major discoveries were made in the past few years in the field of neutrino flavour oscillation. Nuclear reactors produce a clean and intense flux of electron antineutrinos and are thus an essential neutrino source for the determination of oscillation parameters. Most currently the reactor antineutrino experiments Double Chooz, Daya Bay and RENO have accomplished to measure θ{sub 13}, the smallest of the three-flavour mixing angles. In the course of these experiments two anomalies emerged: (1) the reanalysis of the reactor predictions revealed a deficit in experimentally observed antineutrino flux, known as the ''reactor antineutrino anomaly''. (2) The high precision of the latest generation of neutrino experiments resolved a spectral shape distortion relative to the expected energy spectra. Both puzzles are yet to be solved and triggered new experimental as well as theoretical studies, with the search for light sterile neutrinos as most popular explanation for the flux anomaly. This talk outlines the two reactor antineutrino anomalies. Discussing possible explanations for their occurrence, recent and upcoming efforts to solve the reactor puzzles are highlighted.

A rare anomaly: Double right coronary artery

Directory of Open Access Journals (Sweden)

Dursun Çayan Akkoyun

2013-01-01

Full Text Available Coronary artery anomalies are rare anomalies. Theseare usually asymptomatic and are discovered incidentally.Double right coronary artery (RCA is a rare coronaryartery anomaly. Although there is controversy aboutidentification and classification of double RCA, it is oftena benign condition, but it can be complicated by atherosclerosisand can lead to serious conditions such asmyocardial infarction (MI and may be accompanied byother anomalies. In our case, double RCA were detectedin coronary angiography for acute anterior MI, and in thenext session successful percutaneous coronary interventionwas performed.Key words: Coronary anomaly, coronary angiography,coronary stenosis

Congenital anomalies and normal skeletal variants

International Nuclear Information System (INIS)

Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

1987-01-01

Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

Genetic, chromosomal, and syndromic causes of neural tube defects.

Science.gov (United States)

Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

2014-12-01

To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

"It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

Science.gov (United States)

Menezes, Melody A; Hodgson, Jan M; Sahhar, Margaret A; Aitken, Maryanne; Metcalfe, Sylvia A

2010-12-01

Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few studies have explored whether this type of work impacts on genetic counselors themselves. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding--that of the impact experienced by counselors from both countries while working when pregnant.

Algebraic study of chiral anomalies

Indian Academy of Sciences (India)

Chiral anomalies; gauge theories; bundles; connections; quantum field ... The algebraic structure of chiral anomalies is made globally valid on non-trivial bundles by the introduction of a fixed background connection. ... Current Issue : Vol.

Experience of diagnosis of congenital arterial anomaly in a child with bronchial obstruction: clinical case and summary

Directory of Open Access Journals (Sweden)

L.V. Besh

2017-08-01

Full Text Available Congenital anomalies of the aortic arch are a large group of cardiovascular anomalies. Some of them are isolated; others are associated with congenital heart defects or genetic syndromes. There can be different clinical manifestations of these anomalies — from silent forms (accidentally discovered in the examination to a critical circulatory disturbance, requiring surgical intervention in the first hours after the birth of the baby. The article describes clinical search of double aortic arch in a child and successful surgical treatment of this anomaly. This congenital defect of the aorta usually causes the greatest compression of airways compared to other vascular abnormalities. Double aortic arch develops due to absence of involution of distal IV right aortic arch. As a result, two IV arches keep on developing and join together in the left-sided descending thoracic aorta, thus surrounding the trachea and esophagus. Smaller of the two arches is often subjected to atresia, but it is still connected to the descending aorta, creating a complete vascular ring. As a double aortic arch pressures on the trachea and esophagus, it can cause airway obstruction and dysphagia in a patient. Therapeutic tactic depends on the intensity of symptoms, presence of concomitant anomalies or diseases, and many additional factors, which are analyzed and considered within the council of physicians of different specialties.

Clinical Study of Second Branchial Cleft Anomalies.

Science.gov (United States)

Lee, Dong Hoon; Yoon, Tae Mi; Lee, Joon Kyoo; Lim, Sang Chul

2018-03-30

The objective of this study was to review the clinical characteristics and surgical treatment outcomes of second branchial cleft anomalies, and to evaluate the usefulness and accuracy of preoperative fine-needle aspiration cytology (FNAC) in the diagnosis of branchial cleft cysts. A retrospective chart review was performed at Chonnam National University Hwasun Hospital from January 2010 to December 2016. Among 25 patients with second branchial cleft anomalies, in 23 patients (92.0%), these anomalies presented as cysts, and in the remaining 2 patients (8.0%), these anomalies presented as fistulas. Fine-needle aspiration cytology had a diagnostic sensitivity of 100%, a positive-predictive value of 100%, and accuracy of 100% for diagnosing second branchial cleft cyst. All patients of second branchial cleft anomalies were treated surgically under general anesthesia. No recurrence of second branchial cleft anomalies was observed. Branchial cleft cysts were the most common type of second branchial cleft anomalies. Preoperative FNAC is a useful and accurate method for preoperative evaluation of branchial cleft cysts. Surgical excision of second branchial cleft anomalies is the treatment of choice without any complications and with no recurrence.

Anomaly depth detection in trans-admittance mammography: a formula independent of anomaly size or admittivity contrast

International Nuclear Information System (INIS)

Zhang, Tingting; Lee, Eunjung; Seo, Jin Keun

2014-01-01

Trans-admittance mammography (TAM) is a bioimpedance technique for breast cancer detection. It is based on the comparison of tissue conductivity: cancerous tissue is identified by its higher conductivity in comparison with the surrounding normal tissue. In TAM, the breast is compressed between two electrical plates (in a similar architecture to x-ray mammography). The bottom plate has many sensing point electrodes that provide two-dimensional images (trans-admittance maps) that are induced by voltage differences between the two plates. Multi-frequency admittance data (Neumann data) are measured over the range 50 Hz–500 kHz. TAM aims to determine the location and size of any anomaly from the multi-frequency admittance data. Various anomaly detection algorithms can be used to process TAM data to determine the transverse positions of anomalies. However, existing methods cannot reliably determine the depth or size of an anomaly. Breast cancer detection using TAM would be improved if the depth or size of an anomaly could also be estimated, properties that are independent of the admittivity contrast. A formula is proposed here that can estimate the depth of an anomaly independent of its size and the admittivity contrast. This depth estimation can also be used to derive an estimation of the size of the anomaly. The proposed estimations are verified rigorously under a simplified model. Numerical simulation shows that the proposed method also works well in general settings. (paper)

Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.

Science.gov (United States)

Pini Prato, Alessio; Musso, Marco; Ceccherini, Isabella; Mattioli, Girolamo; Giunta, Camilla; Ghiggeri, Gian Marco; Jasonni, Vincenzo

2009-03-01

Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on the common genetic background of enteric nervous system and kidney development, the reported association of CAKUT and HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived neurotrophic factor (GDNF), and GDNF family receptor alpha1 (GFRalpha1) mutations or haplotypes associated with this subset of HSCR patients. Eighty-four HSCR patients consecutively admitted to our department between July 2006 and July 2007 underwent interviews, notes review, ultrasound screening (further investigation according to detected anomaly), urinalysis, and DNA extraction for molecular genetics study. Another 27 patients with isolated CAKUT were included as a control group for the molecular genetics study. Twenty-one patients (25%) with HSCR had associated CAKUT, with hydronephrosis and hypoplasia being the most frequent diagnoses. Nine of 21 CAKUT were symptomatic. Six additional patients had other non-CAKUT anomalies (for example, stones, Barter syndrome) that were excluded from association and molecular genetics analysis to avoid bias of inclusion criteria. RET mutations were found in 5 patients (4 HSCR, 1 HSCR + CAKUT, 0 CAKUT) and GDNF mutations in 3 (2 HSCR, 1 CAKUT, 0 HSCR + CAKUT). No GFRalpha1 mutations were found. Finally, the HSCR-predisposing T haplotype of RET proto-oncogene was found in 64% of HSCR, 50% of HSCR + CAKUT, and in 24% of CAKUT patients. The incidence of CAKUT in HSCR patients is 4- to 6-fold higher than expected. Therefore, a patient with HSCR has a 3- to 18-fold higher risk of developing a CAKUT, particularly hydronephrosis or hypoplasia. If we consider that the proportion of predisposing haplotype in HSCR + CAKUT patients resembles that of other syndromic HSCR, we can conclude that HSCR + CAKUT has to be considered

Meiotic consequences of induced chromosomal anomalies in Triticum aestivum L

International Nuclear Information System (INIS)

Larik, A.S.; Hafiz, H.M.I.; Ansari, N.N.

1981-01-01

Investigations on the mechanism of chromosome breakages, types of aberrations and their genetic consequences form an integral part of the most of the studies on radiation genetics (BROCK 1977; KONZAK et al. 1977; LARIK 1975; SEARS 1977; SHARMA & FORSBEGR 1977), covering a wide range of plants belonging to both wild and cultivated species. Mutations due to deficiency of genes with a dominant or epistatic effect occur in very high frequency (MAC KEY 1968) because the well buffered genomes of polyploids can tolerate losses of large chromosome segments and even of entire chromosomes (LARIK 1978a; LARIK & THOMAS 1979; LARIK et al. 1980a). Extensive investigations on the effect of physical and chemical mutagens on the cytological behaviour of wheat and other plants have already been reported (GAUL 1977). However, cytological studies on the M 2 and M 3 populations are very limited (LARIK et al. 1980a). An attempt has been made in the present work to extend these studies. This paper presents an analysis of meiotic anomalies in M 3 populations of bread wheat and discusses their significance with reference to genetics and plant breeding

Advances in the knowledge of the mining geological anomaly uraniferous Medano Rico, Disc. Jachal, San Juan Province

International Nuclear Information System (INIS)

Matar, M.; Arroqui, A.; Wetten, A.; Banchig, P.; Iglesias, R.

2010-01-01

Preliminary results of research carried out in the area of ​​Medano Rico, Dto Jachal San Juan Province, under the project Implementation of a model for exploration of uranium in Pre cordillera describes this work. The research tasks are intended to deepen the knowledge of the area to establish a genetic model of uranium anomaly

An introduction to gravitational anomalies

International Nuclear Information System (INIS)

Alvarez-Gaume', L.

1984-01-01

The outline of these lectures is as follows: We will first analyze the abelian anomaly from the point of view of the Atiyah-Singer index theorem. This is clearly not the first time that this analysis has been carried out, but it will give us a chance of introducing a general method of computing anomalies based on supersymmetric quantum mechanics. Then we will present the general strategy for identifying and computing the anomalies in the energy-momentum tensor and what can be learned from them

Inversion of self-potential anomalies caused by simple-geometry bodies using global optimization algorithms

International Nuclear Information System (INIS)

Göktürkler, G; Balkaya, Ç

2012-01-01

Three naturally inspired meta-heuristic algorithms—the genetic algorithm (GA), simulated annealing (SA) and particle swarm optimization (PSO)—were used to invert some of the self-potential (SP) anomalies originated by some polarized bodies with simple geometries. Both synthetic and field data sets were considered. The tests with the synthetic data comprised of the solutions with both noise-free and noisy data; in the tests with the field data some SP anomalies observed over a copper belt (India), graphite deposits (Germany) and metallic sulfide (Turkey) were inverted. The model parameters included the electric dipole moment, polarization angle, depth, shape factor and origin of the anomaly. The estimated parameters were compared with those from previous studies using various optimization algorithms, mainly least-squares approaches, on the same data sets. During the test studies the solutions by GA, PSO and SA were characterized as being consistent with each other; a good starting model was not a requirement to reach the global minimum. It can be concluded that the global optimization algorithms considered in this study were able to yield compatible solutions with those from widely used local optimization algorithms. (paper)

Global anomalies in chiral lattice gauge theories

International Nuclear Information System (INIS)

Baer, O.

2000-07-01

We study global anomalies in a new approach to chiral gauge theories on the lattice, which is based on the Ginsparg-Wilson relation. In this approach, global anomalies make it impossible to define consistently a fermionic measure for the functional integral. We show that a global anomaly occurs in an SU(2) theory if the fundamental representation is used for the fermion fields. The generalization to higher representations is also discussed. In addition we establish a close relation between global anomalies and the spectral flow of the Dirac operator and employ it in a numerical computation to prove the existence of the global SU(2) anomaly in a different way. This method is inspired by an earlier work of Witten who first discovered this type of anomalies in continuum field theory. (orig.)

Prevalence of dental anomalies in Saudi orthodontic patients.

Science.gov (United States)

Al-Jabaa, Aljazi H; Aldrees, Abdullah M

2013-07-01

This study aimed to investigate the prevalence of dental anomalies and study the association of these anomalies with different types of malocclusion in a random sample of Saudi orthodontic patients. Six hundred and two randomly selected pretreatment records including orthopantomographs (OPG), and study models were evaluated. The molar relationship was determined using pretreatment study models, and OPG were examined to investigate the prevalence of dental anomalies among the sample. The most common types of the investigated anomalies were: impaction followed by hypodontia, microdontia, macrodontia, ectopic eruption and supernumerary. No statistical significant correlations were observed between sex and dental anomalies. Dental anomalies were more commonly found in class I followed by asymmetric molar relation, then class II and finally class III molar relation. No malocclusion group had a statistically significant relation with any individual dental anomaly. The prevalence of dental anomalies among Saudi orthodontic patients was higher than the general population. Although, orthodontic patients have been reported to have high rates of dental anomalies, orthodontists often fail to consider this. If not detected, dental anomalies can complicate dental and orthodontic treatment; therefore, their presence should be carefully investigated during orthodontic diagnosis and considered during treatment planning.

MR imaging of paediatric uterovaginal anomalies

International Nuclear Information System (INIS)

Lang, I.M.; Babyn, P.; Oliver, G.D.

1999-01-01

Background. Transabdominal ultrasound (US) has not proved completely reliable in Muellerian duct anomalies. One study has shown it useful in obstructed uterovaginal anomalies. We are unaware of a study that has used endovaginal ultrasound in children to investigate uterovaginal anomalies. Magnetic resonance imaging (MRI) is now gaining wide acceptance in imaging congenital abnormalities of the genital tract. Objective. To identify the problems and potential pitfalls of using MRI to evaluate the female genital tract in paediatric patients. Materials and methods. A retrospective review of the MRI scans of 19 patients, aged 3 months to 19 years (mean 14 years), with uterovaginal anomalies. Results. The uterovaginal anomalies were categorised into three groups: (1) congenital absence of the Muellerian ducts, or the Mayer-Rokitansky-Kuster-Hauser syndrome (n = 7), (2) disorders of vertical fusion (n = 2) and (3) disorders of lateral fusion (n = 10). Conclusions. MRI is a reliable method for evaluating paediatric uterovaginal anomalies, but should be analysed in conjunction with other imaging modalities (US and genitography). Previous surgery makes interpretation more difficult and, if possible, MRI should be carried out prior to any surgery. An accurate MRI examination can be extremely helpful prior to surgery and it is important for the radiologist to have knowledge of how these complex anomalies are managed and what pitfalls to avoid. (orig.)

Gravitational Anomaly and Transport Phenomena

International Nuclear Information System (INIS)

Landsteiner, Karl; Megias, Eugenio; Pena-Benitez, Francisco

2011-01-01

Quantum anomalies give rise to new transport phenomena. In particular, a magnetic field can induce an anomalous current via the chiral magnetic effect and a vortex in the relativistic fluid can also induce a current via the chiral vortical effect. The related transport coefficients can be calculated via Kubo formulas. We evaluate the Kubo formula for the anomalous vortical conductivity at weak coupling and show that it receives contributions proportional to the gravitational anomaly coefficient. The gravitational anomaly gives rise to an anomalous vortical effect even for an uncharged fluid.

Praenatalt diagnosticeret hydronefrose og andre urologiske anomalier

DEFF Research Database (Denmark)

Cortes, Dina; Jørgensen, Troels Munch; Rittig, Søren

2006-01-01

By renal ultrasound examination, urological anomalies may be demonstrated in 1-2% of fetuses and in about 0.5% of newborns. Boys have about twice the frequency of girls. Surgical treatment is indicated in about one fourth of these urological anomalies. If all pregnant women in Denmark were to hav...... in cases of urological anomalies and guidelines for post-natal diagnosis, follow-up and treatment of these anomalies, especially hydronephrosis....

Prevalence of dental anomalies in Indian population.

Science.gov (United States)

Patil, Santosh; Doni, Bharati; Kaswan, Sumita; Rahman, Farzan

2013-10-01

Developmental anomalies of the dentition are not infrequently observed by the dental practitioner. The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. A retrospective study of 4133 panoramic radiographs of patients, who attended the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 was done. The ages of the patients ranged from 13 to 38 years with a mean age of 21.8 years. The orthopantomographs (OPGs) and dental records were examined for any unusual finding such as congenitally missing teeth, impactions, ectopic eruption, supernumerary teeth, odontoma, dilacerations, taurodontism, dens in dente, germination and fusion, among others. 1519 (36.7%) patients had at least one dental anomaly. The congenitally missing teeth 673 (16.3%) had the highest prevalence, followed by impacted teeth 641 (15.5%), supernumerary teeth 51 (1.2%) and microdontia 41 (1.0%). Other anomalies were found at lower prevalence ranging from transposition 7 (0.1%) to ectopic eruption 30 (0.7%). The most prevalent anomaly in the Indian population was congenitally missing teeth (16.3%), and the second frequent anomaly was impacted teeth (15.5%), whereas, macrodontia, odontoma and transposition were the least frequent anomalies, with a prevalence of 0.2%, 0.2% and 0.1% respectively. While the overall prevalence of these anomalies may be low, the early diagnosis is imperative for the patient management and treatment planning. Key words:Dental anomaly, prevalence, panoramic radiography.

Gaugino-assisted anomaly mediation

International Nuclear Information System (INIS)

Kribs, Graham D.

2001-01-01

I present a model of supersymmetry breaking mediated through a small extra dimension. Standard model matter multiplets and a supersymmetry-breaking (or 'hidden') sector are confined to opposite four-dimensional boundaries while gauge multiplets live in the bulk. The hidden sector does not contain a singlet and the dominant contribution to gaugino masses is via anomaly-mediated supersymmetry breaking. Scalar masses get contributions from both anomaly mediation and a tiny hard breaking of supersymmetry by operators on the hidden-sector boundary. These operators contribute to scalar masses at one loop and in most of parameter space, their contribution dominates. Thus it is easy to make all squared scalar masses positive. As no additional fields or symmetries are required below the Planck scale, this is among the simplest working models of anomaly mediation. The gaugino spectrum is left untouched and the phenomenology of the model is roughly similar to anomaly mediated supersymmetry breaking with a universal scalar mass added. Finally, the main differences in the spectrum between this model and other approaches are identified. This talk is based on work [1] done in collaboration with David E. Kaplan

Gaugino-Assisted Anomaly Mediation

International Nuclear Information System (INIS)

Kaplan, David Elazzar; Kribs, Graham D.

2000-01-01

We present a model of supersymmetry breaking mediated through a small extra dimension. Standard model matter multiplets and a supersymmetry-breaking (or ''hidden'') sector are confined to opposite four-dimensional boundaries while gauge multiplets live in the bulk. The hidden sector does not contain a singlet and the dominant contribution to gaugino masses is via anomaly-mediated supersymmetry breaking. Scalar masses get contributions from both anomaly mediation and a tiny hard breaking of supersymmetry by operators on the hidden-sector boundary. These operators contribute to scalar masses at one loop and in most of parameter space, their contribution dominates. Thus it is easy to make all squared scalar masses positive. As no additional fields or symmetries are required below the Planck scale, we consider this the simplest working model of anomaly mediation. The gaugino spectrum is left untouched and the phenomenology of the model is roughly similar to anomaly mediated supersymmetry breaking with a universal scalar mass added. We identify the main differences in the spectrum between this model and other approaches. We also discuss mechanisms for generating the μ term and constraints on additional bulk fields. (author)

Anomaly-specified virtual dimensionality

Science.gov (United States)

Chen, Shih-Yu; Paylor, Drew; Chang, Chein-I.

2013-09-01

Virtual dimensionality (VD) has received considerable interest where VD is used to estimate the number of spectral distinct signatures, denoted by p. Unfortunately, no specific definition is provided by VD for what a spectrally distinct signature is. As a result, various types of spectral distinct signatures determine different values of VD. There is no one value-fit-all for VD. In order to address this issue this paper presents a new concept, referred to as anomaly-specified VD (AS-VD) which determines the number of anomalies of interest present in the data. Specifically, two types of anomaly detection algorithms are of particular interest, sample covariance matrix K-based anomaly detector developed by Reed and Yu, referred to as K-RXD and sample correlation matrix R-based RXD, referred to as R-RXD. Since K-RXD is only determined by 2nd order statistics compared to R-RXD which is specified by statistics of the first two orders including sample mean as the first order statistics, the values determined by K-RXD and R-RXD will be different. Experiments are conducted in comparison with widely used eigen-based approaches.

Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication.

Science.gov (United States)

Gesser-Edelsburg, Anat; Shahbari, Nour Abed Elhadi

2017-04-04

This study focused on decision-making on terminating pregnancy for Arab Muslim women in Israel who were pregnant with fetuses diagnosed with congenital anomalies. It examined the impact of the doctor-patient interaction on the women's decision, especially in light of social and religious pressures not to terminate under any circumstances. Our goal was to identify perceptions and attitudes of Muslim Arab women who choose to continue their pregnancy following the detection of congenital anomalies in prenatal tests. Specific objectives included (1) To examine the Muslim Arab women's perceptions on genetic testing, and ascertain the reasons for their decision to continue the pregnancy following the detection of a congenital anomaly in the fetus; and (2) To examine risk communication of gynecologists regarding genetic testing and abortions, and regarding the decision of continuing or terminating a pregnancy following detection of a congenital anomaly. The research framework used the constructivist classical qualitative method to understand the experience of women at high risk for congenital anomalies and their experience of how doctors communicate the risk. It showed that the emotional element is no less dominant than religious and social elements. The findings emphasized the disparities between doctors and women regarding emotional involvement (non-directive counselling). The women interviewees (N = 24) felt that this expressed insensitivity. As far as we know, the emotional component has not been raised in previous studies of Muslim women at high risk for congenital defects in their fetus, and therefore comprises a significant contribution of the present study. To mitigate gaps, doctors should take affect into consideration in their communication with patients. It is important for doctors to understand the emotional element in risk communication, both in how they respect women's emotions and in creating an emotional interaction between themselves and the women.

Higher derivative regularization and chiral anomaly

International Nuclear Information System (INIS)

Nagahama, Yoshinori.

1985-02-01

A higher derivative regularization which automatically leads to the consistent chiral anomaly is analyzed in detail. It explicitly breaks all the local gauge symmetry but preserves global chiral symmetry and leads to the chirally symmetric consistent anomaly. This regularization thus clarifies the physics content contained in the consistent anomaly. We also briefly comment on the application of this higher derivative regularization to massless QED. (author)

MR imaging of neuronal migration anomaly

International Nuclear Information System (INIS)

Hong, Hyun Sook; Choi, Eun Wan; Kim, Dae Ho; Chung, Moo Chan; Kwon, Kuy Hyang; Kim, Ki Jung

1991-01-01

Abnormalities of neuronal migration are characterized by anectopic location of neurons in the cerebral cortex. This broad group of anomalies includes agyria, pachygyria, schizencephaly, unilateral megalencephaly, and gray matter heterotopia. Patients with this anomaly present clinically with a variety of symptoms which are proportional to the extent of the brain involved. These abnormalities have characterized pathologically in vivo by sonography and CT scan. MR appears to be an imaging technique of choice in evaluating these anomalies because it is capable of exceptionally good differentiation between gray and white matter, high contrast resolution, multiplanar display of the anatomy, and lack of overlying bone artifac. The purpose of this paper is to describe the MR findings of neuronal migration anomaly. The results of our study support that MR appears to be the imaging method of choice for diagnosing migration anomalies and the primary screening method for infants or children who have seisure/and delayed development

Analysis of renal anomalies in VACTERL association.

Science.gov (United States)

Cunningham, Bridget K; Khromykh, Alina; Martinez, Ariel F; Carney, Tyler; Hadley, Donald W; Solomon, Benjamin D

2014-10-01

VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least three component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis. Four other patients were additionally analyzed separately, with the hypothesis that subtle renal system anomalies may occur in patients who would not otherwise meet criteria for VACTERL association. Thirty-three (69%) of the 48 patients had a clinical manifestation affecting the renal system. The most common renal manifestation (RM) was vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%), followed by unilateral renal agenesis (24%), and then dysplastic/multicystic kidneys or duplicated collected system (18% for each). Twenty-two (88%) of the 25 patients with a structural RM had an associated anorectal malformation. Individuals with either isolated lower anatomic anomalies, or both upper and lower anatomic anomalies were not statistically more likely to have a structural renal defect than those with isolated upper anatomic anomalies (p = 0.22, p = 0.284, respectively). Given the high prevalence of isolated VUR in our cohort, we recommend a screening VCUG or other imaging modality be obtained to evaluate for VUR if initial renal ultrasound shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. © 2014 Wiley Periodicals, Inc.

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

Distribution of female genital tract anomalies in two classifications.

Science.gov (United States)

Heinonen, Pentti K

2016-11-01

This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97.3% of cases. Renal status was determined in 378 patients, including 5 with normal uterus and vagina. The European classification covered all 621 women studied. Uterine anomalies without cervical or vaginal anomaly were found in 302 (48.6%) patients. Uterine anomaly was associated with vaginal anomaly in 45.2%, and vaginal anomaly alone was found in 26 (4.2%) cases. Septate uterus was the most common (49.1%) of all genital tract anomalies, followed by bicorporeal uteri (18.2%). The American classification covered 590 (95%) out of the 621 women with genital tract anomalies. The American system did not take into account vaginal anomalies in 170 (34.7%) and cervical anomalies in 174 (35.5%) out of 490 cases with uterine malformations. Renal abnormalities were found in 71 (18.8%) out of 378 women, unilateral renal agenesis being the most common defect (12.2%), also found in 4 women without Müllerian duct anomaly. The European classification sufficiently covered uterine and vaginal abnormalities. The distribution of the main uterine anomalies was equal in both classifications. The American system missed cervical and vaginal anomalies associated with uterine anomalies. Evaluation of renal system is recommended for all patients with genital tract anomalies. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Prevalence of dental developmental anomalies: a radiographic study.

Science.gov (United States)

Ezoddini, Ardakani F; Sheikhha, M H; Ahmadi, H

2007-09-01

To determine the prevalence of developmental dental anomalies in patients attending the Dental Faculty of Medical University of Yazd, Iran and the gender differences of these anomalies. A retrospective study based on the panoramic radiographs of 480 patients. Patients referred for panoramic radiographs were clinically examined, a detailed family history of any dental anomalies in their first and second degree relatives was obtained and finally their radiographs were studied in detail for the presence of dental anomalies. 40.8% of the patients had dental anomalies. The more common anomalies were dilaceration (15%), impacted teeth (8.3%) and taurodontism (7.5%) and supernumerary teeth (3.5%). Macrodontia and fusion were detected in a few radiographs (0.2%). 49.1% of male patients had dental anomalies compared to 33.8% of females. Dilaceration, taurodontism and supernumerary teeth were found to be more prevalent in men than women, whereas impacted teeth, microdontia and gemination were more frequent in women. Family history of dental anomalies was positive in 34% of the cases.. Taurodontism, gemination, dens in dente and talon cusp were specifically limited to the patients under 20 year's old, while the prevalence of other anomalies was almost the same in all groups. Dilaceration, impaction and taurodontism were relatively common in the studied populaton. A family history of dental anomalies was positive in a third of cases.

Associated dental anomalies: case report Múltiplas anomalias dentárias associadas: caso clínico

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Daniela Gamba Garib

2005-12-01

Full Text Available Certain human dental anomalies frequently occur together, supporting the accumulated evidence of the shared genetic control of dental developmental disturbances. The present study reports a rare and interesting case of a 12-year-old girl with an association of multiple dental abnormalities, including agenesis, tooth malposition and delayed development. The etiology and treatment planning are discussed with reference to the literature. The clinical implications of genetically controlled patterns of dental anomalies are important in the establishment of early diagnosis and appropriate orthodontic intervention.Certas anomalias dentárias humanas freqüentemente ocorrem concomitantemente, contribuindo para validar as evidências do controle genético nos distúrbios de desenvolvimento. O presente estudo relata um caso raro e interessante de uma jovem de 12 anos de idade, com associação de anormalidades dentárias múltiplas, incluindo agenesia, ectopia e atraso no desenvolvimento dentário. A etiologia e tratamento planejados são discutidos com referência à literatura. As implicações clínicas do padrão de anomalias dentárias geneticamente controladas são importantes no estabelecimento do diagnóstico precoce e de adequada intervenção ortodôntica.

Axial anomaly at finite temperature

International Nuclear Information System (INIS)

Chaturvedi, S.; Gupte, Neelima; Srinivasan, V.

1985-01-01

The Jackiw-Bardeen-Adler anomaly for QED 4 and QED 2 are calculated at finite temperature. It is found that the anomaly is independent of temperature. Ishikawa's method [1984, Phys. Rev. Lett. vol. 53 1615] for calculating the quantised Hall effect is extended to finite temperature. (author)

Global gravitational anomalies and transport

Energy Technology Data Exchange (ETDEWEB)

Chowdhury, Subham Dutta; David, Justin R. [Centre for High Energy Physics, Indian Institute of Science,C. V. Raman Avenue, Bangalore 560012 (India)

2016-12-21

We investigate the constraints imposed by global gravitational anomalies on parity odd induced transport coefficients in even dimensions for theories with chiral fermions, gravitinos and self dual tensors. The η-invariant for the large diffeomorphism corresponding to the T transformation on a torus constraints the coefficients in the thermal effective action up to mod 2. We show that the result obtained for the parity odd transport for gravitinos using global anomaly matching is consistent with the direct perturbative calculation. In d=6 we see that the second Pontryagin class in the anomaly polynomial does not contribute to the η-invariant which provides a topological explanation of this observation in the ‘replacement rule’. We then perform a direct perturbative calculation for the contribution of the self dual tensor in d=6 to the parity odd transport coefficient using the Feynman rules proposed by Gaumé and Witten. The result for the transport coefficient agrees with that obtained using matching of global anomalies.

Genetic, chromosomal, and syndromic causes of neural tube defects

Science.gov (United States)

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

Low Risk Anomalies?

DEFF Research Database (Denmark)

Schneider, Paul; Wagner, Christian; Zechner, Josef

. Empirically, we find that option-implied ex-ante skewness is strongly related to ex-post residual coskewness and alphas. Beta- and volatility-based low risk anomalies are largely driven by a single principal component, which is in turn largely explained by skewness. Controlling for skewness renders the alphas......This paper shows that stocks' CAPM alphas are negatively related to CAPM betas if investors demand compensation for negative skewness. Thus, high (low) beta stocks appear to underperform (outperform). This apparent anomaly merely reflects compensation for residual coskewness ignored by the CAPM...... of betting-against-beta and -volatility insignificant....

Congenital laryngeal anomalies,

Directory of Open Access Journals (Sweden)

Michael J. Rutter

2014-12-01

Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

[Occlusal anomalies in the deciduous and mixed bites].

Science.gov (United States)

Legovic, M; Mady, L

1998-01-01

In 311 examines (177 boys and 134 girls) with primary dentition and 535 examinees (285 boys and 250 girls) with mixed dentition in Istria--Croatia, the frequency of orthodontic and occlusive anomalies in regard of space plane and premature extraction of c, m1 and m2 are investigated. The orthodontic anomalies are defected in 46.95%, premature loss in 11.25% and occlusive anomalies in 40.85% of examinees with primary dentition, while in mixed dentition the 58.69% of examinees have orthodontic anomaly, the 17.20% premature loss and the 48.97% of examinees have occlusal anomaly. In both phases of dentition the most frequent are occlusive anomalies in the following planes: sagittal, vertical and sagittal-vertical.

Lunar Bouguer gravity anomalies - Imbrian age craters

Science.gov (United States)

Dvorak, J.; Phillips, R. J.

1978-01-01

The Bouguer gravity of mass anomalies associated with four Imbrian age craters, analyzed in the present paper, are found to differ considerably from the values of the mass anomalies associated with some young lunar craters. Of the Imbrian age craters, only Piccolomini exhibits a negative gravity anomaly (i.e., a low density region) which is characteristic of the young craters studied. The Bouguer gravity anomalies are zero for each of the remaining Imbrian age craters. Since, Piccolomini is younger, or at least less modified, than the other Imbrian age craters, it is suggested that the processes responsible for the post-impact modification of the Imbrian age craters may also be responsible for removing the negative mass anomalies initially associated with these features.

Intracranial developmental venous anomaly: is it asymptomatic?

Science.gov (United States)

Puente, A Bolívar; de Asís Bravo Rodríguez, F; Bravo Rey, I; Romero, E Roldán

2018-03-16

Intracranial developmental venous anomalies are the most common vascular malformation. In the immense majority of cases, these anomalies are asymptomatic and discovered incidentally, and they are considered benign. Very exceptionally, however, they can cause neurological symptoms. In this article, we present three cases of patients with developmental venous anomalies that presented with different symptoms owing to complications derived from altered venous drainage. These anomalies were located in the left insula, right temporal lobe, and cerebellum. The exceptionality of the cases presented as well as of the images associated, which show the mechanism through which the symptoms developed, lies in the low incidence of symptomatic developmental venous anomalies reported in the literature. Copyright © 2018 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

Branchial anomalies: diagnosis and management.

Science.gov (United States)

Prasad, Sampath Chandra; Azeez, Arun; Thada, Nikhil Dinaker; Rao, Pallavi; Bacciu, Andrea; Prasad, Kishore Chandra

2014-01-01

Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence.

Branchial Anomalies: Diagnosis and Management

Science.gov (United States)

Azeez, Arun; Thada, Nikhil Dinaker; Rao, Pallavi; Prasad, Kishore Chandra

2014-01-01

Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence. PMID:24772172

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Science.gov (United States)

Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

2012-12-01

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

FOETAL ULTRASOUND - NEUROECTODERMAL ANOMALIES IN RURAL PREGNANT WOMEN

Directory of Open Access Journals (Sweden)

Mala Venkata

2016-06-01

Full Text Available BACKGROUND A prospective clinical study to know the various types of congenital Neuroectodermal Anomalies on obstetric Ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these Congenital Neuroectodermal Anomalies. To calculate the incidence and prevalence of different types of Congenital Neuroectodermal Anomalies, in these rural pregnant women. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. METHODS A prospective clinical study of Congenital Neuroectodermal Anomalies in 22,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. 44 cases of neuroectodermal anomalies were detected out of the 22000 cases, within an incidence of 2 per 1000 cases. Approximately 1 in every 500 cases showed an anomaly. RESULTS The most common lesions detected were hydrocephalus, and spina bifida followed by anencephaly. Association of these lesions with consanguinity, previous history of similar anomaly and intake of iron and folic acid tablets was noted. CONCLUSION Ultrasound is an excellent modality for the diagnosis and characterisation of the neuroectodermal anomalies. Its multiplanar imaging property along with real time image visualisation make it an excellent tool for the diagnosis and characterisation of these anomalies

Comparison of the dental anomalies found in maxillary canine-first premolar transposition cases with those in palatally displaced canine cases.

Science.gov (United States)

Scerri, Erica Sultana; McDonald, Fraser; Camilleri, Simon

2016-02-01

To compare the developmental dental anomalies associated with maxillary canine-first premolar (MxCP1) transposition and those of palatally displaced canine (PDC) with each other and with the background prevalence in the Maltese population in order to elucidate whether the two conditions have similar or differing genetic backgrounds. Dental records of 477 subjects with PDC, 57 subjects with MxCP1, and a control group of 500 subjects with no history of a PDC or tooth transposition were compared for canine eruption anomalies and hypodontia. A high frequency of bilateral occurrence was present for both canine malpositions and when unilateral, a trend to right-sided occurrence was evident. The occurrence of transpositions in the PDC group and of PDC in the MxCP1 group was higher than expected. The prevalence of incisor hypodontia was significantly higher in subjects with PDC and MxCP1, as compared to the control group. The size of the MxCP1 group is relatively small. The study population is a small isolated Caucasian population and the results may not be applicable to other populations. There is no significant difference between the MxCP1 and PDC groups in the prevalence or distribution of hypodontia and each of these groups exhibits a higher prevalence of the other canine anomaly. These findings support the theory that PDC and MxCP1 form part of a group of interrelated dental anomalies that share a common genetic basis. © The Author 2015. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Fetal renal anomalies : diagnosis, management, and outcome

NARCIS (Netherlands)

Damen-Elias, Henrica Antonia Maria

2004-01-01

In two to three percent of fetuses structural anomalies can be found with prenatal ultrasound investigation. Anomalies of the urinary tract account for 15 to 20% of these anomalies with a detection rate of approximately of 90%. In Chapter 2, 3 and 4 we present reference curves for size and growth

Human genetics studies in areas of high natural radiation. VII. Genetic load

Energy Technology Data Exchange (ETDEWEB)

Freire-Maia, A [Faculdade de Ciencias Medicas e Biologicas de Botucatu (Brazil). Departamento de Genetica

1975-01-01

Two methods to estimate the inbreeding load, employed in our analysis, are reviewed. Besides the total population, a sample constituted of individuals with no alien ancesters is also analyzed. The measurements by genetic load models show a clear effect of natural radioactivity (especially for abortions, pre-natal mortality, anomalies, and abnormalities in general). The results on stillbirths and post-natal and total mortalities are discussed and it is concluded that uncontrolled concomitant variables (if not chance alone) cause the differences.

DeepAnomaly: Combining Background Subtraction and Deep Learning for Detecting Obstacles and Anomalies in an Agricultural Field

Directory of Open Access Journals (Sweden)

Peter Christiansen

2016-11-01

Full Text Available Convolutional neural network (CNN-based systems are increasingly used in autonomous vehicles for detecting obstacles. CNN-based object detection and per-pixel classification (semantic segmentation algorithms are trained for detecting and classifying a predefined set of object types. These algorithms have difficulties in detecting distant and heavily occluded objects and are, by definition, not capable of detecting unknown object types or unusual scenarios. The visual characteristics of an agriculture field is homogeneous, and obstacles, like people, animals and other obstacles, occur rarely and are of distinct appearance compared to the field. This paper introduces DeepAnomaly, an algorithm combining deep learning and anomaly detection to exploit the homogenous characteristics of a field to perform anomaly detection. We demonstrate DeepAnomaly as a fast state-of-the-art detector for obstacles that are distant, heavily occluded and unknown. DeepAnomaly is compared to state-of-the-art obstacle detectors including “Faster R-CNN: Towards Real-Time Object Detection with Region Proposal Networks” (RCNN. In a human detector test case, we demonstrate that DeepAnomaly detects humans at longer ranges (45–90 m than RCNN. RCNN has a similar performance at a short range (0–30 m. However, DeepAnomaly has much fewer model parameters and (182 ms/25 ms = a 7.28-times faster processing time per image. Unlike most CNN-based methods, the high accuracy, the low computation time and the low memory footprint make it suitable for a real-time system running on a embedded GPU (Graphics Processing Unit.

Congenital anomalies of the male urethra

International Nuclear Information System (INIS)

Levin, Terry L.; Han, Bokyung; Little, Brent P.

2007-01-01

The spectrum of congenital anomalies of the male urethra is presented. The embryologic basis of each anomaly, when known, is discussed. Clinical and imaging features of each entity are presented. (orig.)

Signal anomaly detection and characterization

International Nuclear Information System (INIS)

Morgenstern, V.M.; Upadhyaya, B.R.; Gloeckler, O.

1988-08-01

As part of a comprehensive signal validation system, we have developed a signal anomaly detector, without specifically establishing the cause of the anomaly. A signal recorded from process instrumentation is said to have an anomaly, if during steady-state operation, the deviation in the level of the signal, its root-mean-square (RMS) value, or its statistical distribution changes by a preset value. This deviation could be an unacceptable increase or a decrease in the quantity being monitored. An anomaly in a signal may be characterized by wideband or single-frequency noise, bias error, pulse-type error, nonsymmetric behavior, or a change in the signal bandwidth. Various signatures can be easily computed from data samples and compared against specified threshold values. We want to point out that in real processes, pulses can appear with different time widths, and at different rates of change of the signal. Thus, in characterizing an anomaly as a pulse-type, the fastest pulse width is constrained by the signal sampling interval. For example, if a signal is sampled at 100 Hz, we will not be able to detect pulses occurring at kHz rates. Discussion with utility and Combustion Engineering personnel indicated that it is not practical to detect pulses having a narrow time width. 9 refs., 11 figs., 8 tabs

Thermal infrared anomalies of several strong earthquakes.

Science.gov (United States)

Wei, Congxin; Zhang, Yuansheng; Guo, Xiao; Hui, Shaoxing; Qin, Manzhong; Zhang, Ying

2013-01-01

In the history of earthquake thermal infrared research, it is undeniable that before and after strong earthquakes there are significant thermal infrared anomalies which have been interpreted as preseismic precursor in earthquake prediction and forecasting. In this paper, we studied the characteristics of thermal radiation observed before and after the 8 great earthquakes with magnitude up to Ms7.0 by using the satellite infrared remote sensing information. We used new types of data and method to extract the useful anomaly information. Based on the analyses of 8 earthquakes, we got the results as follows. (1) There are significant thermal radiation anomalies before and after earthquakes for all cases. The overall performance of anomalies includes two main stages: expanding first and narrowing later. We easily extracted and identified such seismic anomalies by method of "time-frequency relative power spectrum." (2) There exist evident and different characteristic periods and magnitudes of thermal abnormal radiation for each case. (3) Thermal radiation anomalies are closely related to the geological structure. (4) Thermal radiation has obvious characteristics in abnormal duration, range, and morphology. In summary, we should be sure that earthquake thermal infrared anomalies as useful earthquake precursor can be used in earthquake prediction and forecasting.

Euro-African MAGSAT anomaly-tectonic observations

Science.gov (United States)

Hinze, W. J.; Olivier, R.; Vonfrese, R. R. B.

1985-01-01

Preliminary satellite (MAGSAT) scalar magnetic anomaly data are compiled and differentially reduced to radial polarization by equivalent point source inversion for comparison with tectonic data of Africa, Europe and adjacent marine areas. A number of associations are evident to constrain analyses of the tectonic features and history of the region. The Precambrian shields of Africa and Europe exhibit varied magnetic signatures. All shields are not magnetic highs and, in fact, the Baltic shield is a marked minimum. The reduced-to-the-pole magnetic map shows a marked tendency for northeasterly striking anomalies in the eastern Atlantic and adjacent Africa, which is coincident to the track of several hot spots for the past 100 million years. However, there is little consistency in the sign of the magnetic anomalies and the track of the hot spots. Comparison of the radially polarized anomalies of Africa and Europe with other reduced-to-the-pole magnetic satellite anomaly maps of the Western Hemisphere support the reconstruction of the continents prior to the origin of the present-day Atlantic Ocean in the Mesozoic Era.

[Genetics of congenital heart diseases].

Science.gov (United States)

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Coronary artery anomalies in Turner Syndrome.

Science.gov (United States)

Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

Magnetic resonance imaging of Muellerian duct anomalies in children

International Nuclear Information System (INIS)

Li, Yi; Phelps, Andrew; Zapala, Matthew A.; MacKenzie, John D.; MacKenzie, Tippi C.; Courtier, Jesse

2016-01-01

Muellerian duct anomalies encompass a wide variety of disorders resulting from abnormalities in the embryological development of the Muellerian ducts. In the prepubertal pediatric population, Muellerian duct anomalies are often incidental findings on studies obtained for other reasons. The onset of menses can prompt more clinical symptoms. Proper characterization of Muellerian duct anomalies is important because these anomalies can affect the development of gynecological disorders as well as fertility. Muellerian duct anomalies also carry a high association with other congenital anomalies, particularly renal abnormalities. MRI is widely considered the best modality for assessing Muellerian duct anomalies; it provides multiplanar capability, clear anatomical detail and tissue characterization without ionizing radiation. MRI allows for careful description of Muellerian duct anomalies, often leading to classification into the most widely accepted classification system for Muellerian duct anomalies. This system, developed by the American Society of Reproductive Medicine, includes seven subtypes: uterine agenesis/hypoplasia, unicornuate, didelphys, bicornuate, septate, arcuate, and diethylstilbestrol (DES) drug-related uterus. In cases of complex anomalies that defy classification, MRI allows detailed depiction of all components of the anatomical abnormality, allowing for proper management and surgical planning. (orig.)

Coexistence of bilateral first and second branchial arch anomalies

Science.gov (United States)

Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

2013-01-01

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

Genetic mutations in Gorlin-Goltz syndrome

OpenAIRE

Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga

2013-01-01

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.

Genetic mutations in Gorlin-Goltz syndrome.

Science.gov (United States)

Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga

2013-07-01

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.

The U.S. Response to NEOS: Avoiding a Black Swan Event

Science.gov (United States)

2016-09-01

million year ago in the Gulf of Mexico, while the second impacted rural Russian territory known as Tunguska in 1908. The third, most recent impact...populated, there were no human casualties.55 Interestingly, despite the rural environment, the Tunguska event offered researchers the first eyewitness...294 Brad Booth, “Google Analytics: 4 New Reports for SEO,” Practical Ecommerce , August 7, 2016, http

Limb body wall complex: A rare anomaly

Directory of Open Access Journals (Sweden)

Panduranga Chikkannaiah

2013-01-01

Full Text Available We present autopsy findings of a case of limb body wall complex (LBWC. The fetus had encephalocele, genitourinary agenesis, skeletal anomalies and body wall defects. The rare finding in our case is the occurrence of both cranial and urogenital anomalies. The presence of complex anomalies in this fetus, supports embryonal dysplasia theory of pathogenesis for LBWC.

Regional magnetic anomaly constraints on continental rifting

Science.gov (United States)

Vonfrese, R. R. B.; Hinze, W. J.; Olivier, R.; Bentley, C. R.

1985-01-01

Radially polarized MAGSAT anomalies of North and South America, Europe, Africa, India, Australia and Antarctica demonstrate remarkably detailed correlation of regional magnetic lithospheric sources across rifted margins when plotted on a reconstruction of Pangea. These major magnetic features apparently preserve their integrity until a superimposed metamorphoric event alters the magnitude and pattern of the anomalies. The longevity of continental scale magnetic anomalies contrasts markedly with that of regional gravity anomalies which tend to reflect predominantly isostatic adjustments associated with neo-tectonism. First observed as a result of NASA's magnetic satellite programs, these anomalies provide new and fundamental constraints on the geologic evolution and dynamics of the continents and oceans. Accordingly, satellite magnetic observations provide a further tool for investigating continental drift to compliment other lines of evidence in paleoclimatology, paleontology, paleomagnetism, and studies of the radiometric ages and geometric fit of the continents.

Congenital anomalies of the spine: radiologic findings

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

2003-04-01

Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

Positively deflected anomaly mediation

International Nuclear Information System (INIS)

Okada, Nobuchika

2002-01-01

We generalize the so-called 'deflected anomaly mediation' scenario to the case where threshold corrections of heavy messengers to the sparticle squared masses are positive. A concrete model realizing this scenario is also presented. The tachyonic slepton problem can be fixed with only a pair of messengers. The resultant sparticle mass spectrum is quite different from that in the conventional deflected anomaly mediation scenario, but is similar to the one in the gauge mediation scenario. The lightest sparticle is mostly B-ino

Evidence from mammalian studies on genetic effects of low level irradiation

International Nuclear Information System (INIS)

Searle, A.G.

1989-01-01

The major components of genetic damage and associated human risks are discussed, together with the experimental evidence on induction rates of chromosome anomalies in mice, and monkeys male and female germ cells, using low and high LET low level irradiation. (UK)

A Correlation between Renal Anomalies and Vesicoureteral Reflux

International Nuclear Information System (INIS)

Kim, Seung Soo; Kim, Young Tong; Kim, Il Young; Shin, Hyeong Cheol

2011-01-01

To investigate the frequency of vesicoureteral reflux (VUR) in children with renal anomalies a evaluate the correlation between renal anomalies and VUR. Eighty-one children (1 day-8 years) with renal anomalies underwent voiding cystourethrogram between 2006 and 2009 were reviewed. This study included ureteropelvic junction stenosis (n = 32), ureteropelvic duplication (n = 20), multicystic dysplastic kidney (n = 12), fusion anomaly (n = 11), renal agenesis (n = 3), unilateral renal hypoplasia (n = 2), and ectopic kidney (n = 1). The frequency, grade, and location of VUR were evaluated. The grade of VUR according to age and anomaly type was statistically analyzed, and the patients with VUR were followed. The VUR was present in 14 (17.3%); ipsilateral VUR was present in 8 (57.1%), bilateral VUR in 4 (28.6%), and contralateral VUR in 2 (14.2%). VUR was detected in 9 patients under the age of one. There was no statistical correlation between VUR grade and either age or anomaly type of the nine patients showed continuous VUR on up. The frequency of VUR in children with renal anomalies was 17.3%. VUR was most frequently detected in children under the age of one, and VUR grade was not related to age and anomaly type.

A Correlation between Renal Anomalies and Vesicoureteral Reflux

Energy Technology Data Exchange (ETDEWEB)

Kim, Seung Soo; Kim, Young Tong; Kim, Il Young; Shin, Hyeong Cheol [Dept. of Radiology, Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan (Korea, Republic of)

2011-12-15

To investigate the frequency of vesicoureteral reflux (VUR) in children with renal anomalies a evaluate the correlation between renal anomalies and VUR. Eighty-one children (1 day-8 years) with renal anomalies underwent voiding cystourethrogram between 2006 and 2009 were reviewed. This study included ureteropelvic junction stenosis (n = 32), ureteropelvic duplication (n = 20), multicystic dysplastic kidney (n = 12), fusion anomaly (n = 11), renal agenesis (n = 3), unilateral renal hypoplasia (n = 2), and ectopic kidney (n = 1). The frequency, grade, and location of VUR were evaluated. The grade of VUR according to age and anomaly type was statistically analyzed, and the patients with VUR were followed. The VUR was present in 14 (17.3%); ipsilateral VUR was present in 8 (57.1%), bilateral VUR in 4 (28.6%), and contralateral VUR in 2 (14.2%). VUR was detected in 9 patients under the age of one. There was no statistical correlation between VUR grade and either age or anomaly type of the nine patients showed continuous VUR on up. The frequency of VUR in children with renal anomalies was 17.3%. VUR was most frequently detected in children under the age of one, and VUR grade was not related to age and anomaly type.

Cytogenetic and genetic studies of radiation-induced chromosome damage in mouse oocytes. Part 1. Numerical and structural chromosome anomalies in metaphase II oocytes, pre- and post-implantation embryos

International Nuclear Information System (INIS)

Tease, Charles; Fisher, Graham

1996-01-01

The incidences of X-ray induced numerical and structural chromosome anomalies were screened in a range of developmental stages from metaphase II oocytes through to post-implantation embryos. Following 1 Gy of acute X-rays to immediately preovulatory stage oocytes, the rate of hyperploidy (chromosome gain) was found to be elevated over levels in unirradiated controls, at metaphase II, in 1-cell and 3.5 day pre-implantation embryos but not in 8.5 day post-implantation foetuses. In the latter, however, the frequency of mosaicism was significantly increased. A similar response of an increase in mosaicism but not in hyperploidy in 8.5 day post-implantation embryos was also found after irradiation of dictyate stage oocytes with 4 Gy of acute X-rays. Significantly elevated frequencies of structural chromosome anomalies were present in metaphase II oocytes and pre-implantation embryonic stages, but could not be detected in block-stained chromosome preparations from 8.5 day post-implantation foetuses. However, analysis of chromosome preparations after G-banding showed that almost 14% of 14.5 day foetuses carried a chromosome rearrangement after 1 Gy of X-rays to immediately preovulatory stage oocytes. Overall, our data indicate that the presence of radiation-induced chromosome gains are incompatible with embryonic survival but that a proportion of embryos with structural chromosome damage develop past mid-gestation. These latter embryos are therefore potentially capable of contributing to the genetic burden of the next generation

First branchial cleft anomalies: otologic manifestations and treatment outcomes.

Science.gov (United States)

Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

2015-03-01

This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; Pbranchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

Winter to winter recurrence of atmospheric circulation anomalies over East Asia and its impact on winter surface air temperature anomalies.

Science.gov (United States)

Zhao, Xia; Yang, Guang

2017-01-01

The persistence of atmospheric circulation anomalies over East Asia shows a winter to winter recurrence (WTWR) phenomenon. Seasonal variations in sea level pressure anomalies and surface wind anomalies display significantly different characteristics between WTWR and non-WTWR years. The WTWR years are characterized by the recurrence of both a strong (weak) anomalous Siberian High and an East Asian winter monsoon over two successive winters without persistence through the intervening summer. However, anomalies during the non-WTWR years have the opposite sign between the current and ensuing winters. The WTWR of circulation anomalies contributes to that of surface air temperature anomalies (SATAs), which is useful information for improving seasonal and interannual climate predictions over East Asia and China. In the positive (negative) WTWR years, SATAs are cooler (warmer) over East Asia in two successive winters, but the signs of the SATAs are opposite in the preceding and subsequent winters during the non-WTWR years.

Quantum anomalies in nodal line semimetals

Science.gov (United States)

Burkov, A. A.

2018-04-01

Topological semimetals are a new class of condensed matter systems with nontrivial electronic structure topology. Their unusual observable properties may often be understood in terms of quantum anomalies. In particular, Weyl and Dirac semimetals, which have point band-touching nodes, are characterized by the chiral anomaly, which leads to the Fermi arc surface states, anomalous Hall effect, negative longitudinal magnetoresistance, and planar Hall effect. In this paper, we explore analogous phenomena in nodal line semimetals. We demonstrate that such semimetals realize a three-dimensional analog of the parity anomaly, which is a known property of two-dimensional Dirac semimetals arising, for example, on the surface of a three-dimensional topological insulator. We relate one of the characteristic properties of nodal line semimetals, namely, the drumhead surface states, to this anomaly, and derive the field theory, which encodes the corresponding anomalous response.

Coronary artery anomalies. Diagnosis and classification based on cardiac CT and MRI (CMR) - from ALCAPA to anomalies of termination

International Nuclear Information System (INIS)

Heermann, Philipp; Heindel, Walter; Schuelke, Christoph

2017-01-01

Coronary artery anomalies encompass a clinically and anatomically variable spectrum including physiological variants and pathophysiologically relevant anomalies. The majority of the variants has no hemodynamic relevance and is often detected accidentally. The recognition of the rare and relevant anomalies that cause either relevant shunt volumes leading to myocardial ischemia or ventricular tachyarrhythmias with the risk of sudden cardiac death is of major importance. This review is based on a literature search in PubMed conducted using the key words ''coronary artery'' and/or ''anomaly'' and/or ''anomalous origin'' and/or ''myocardial bridging'' and/or ''coronary artery fistula'' and/or ''Bland-White-Garland'' and/or ''ALCAPA''. Coronary artery anomalies can be anatomically subdivided into anomalies of origin, course and termination. The method of choice for anatomical imaging is ECG-triggered or gated multislice CT (MSCT) that provides high spatial resolution and the capability of multiplanar reconstructions. It facilitates the delineation of the precise course of all three coronary arteries and thus allows for correct classification in the anatomical classification system of coronary artery anomalies. The strengths of cardiac magnetic resonance imaging (CMR) are the evaluation of cardiac morphology, myocardial tissue properties and myocardial function. Basic methods are the analysis of myocardial contraction and perfusion with and without pharmacologic stress. Furthermore, potential shunt volumes could be quantified by phase contrast imaging or volumetry.

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

2014-01-01

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

Novel topological invariants and anomalies

International Nuclear Information System (INIS)

Hirayama, M.; Sugimasa, N.

1987-01-01

It is shown that novel topological invariants are associated with a class of Dirac operators. Trace formulas which are similar to but different from Callias's formula are derived. Implications of these topological invariants to anomalies in quantum field theory are discussed. A new class of anomalies are calculated for two models: one is two dimensional and the other four dimensional

Anomaly mediation deformed by axion

Energy Technology Data Exchange (ETDEWEB)

Nakayama, Kazunori, E-mail: kazunori@hep-th.phys.s.u-tokyo.ac.jp [Department of Physics, University of Tokyo, Bunkyo-ku, Tokyo 113-0033 (Japan); Kavli Institute for the Physics and Mathematics of the Universe, University of Tokyo, Kashiwa 277-8583 (Japan); Yanagida, Tsutomu T. [Kavli Institute for the Physics and Mathematics of the Universe, University of Tokyo, Kashiwa 277-8583 (Japan)

2013-05-13

We show that in supersymmetric axion models the axion supermultiplet obtains a sizable F-term due to a non-supersymmetric dynamics and it generally gives the gaugino masses comparable to the anomaly mediation contribution. Thus the gaugino mass relation predicted by the anomaly mediation effect can be significantly modified in the presence of axion to solve the strong CP problem.

Splenic Anomalies of Shape, Size, and Location: Pictorial Essay

Directory of Open Access Journals (Sweden)

Adalet Elcin Yildiz

2013-01-01

Full Text Available Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes.

Noonan syndrome: a clinical and genetic study of 31 patients

Directory of Open Access Journals (Sweden)

Bertola Débora Romeo

1999-01-01

Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

Chromosomal study in newborn infants with congenital anomalies in ...

African Journals Online (AJOL)

Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highestfrequency (37.9%), followed in descending order by chromosomal abnormalities (27.2%), circulatory system anomalies (22.3%), central nervous system (CNS) anomalies ...

Distribution, Management Difficulty and Outcome of Branchial Anomalies.

Science.gov (United States)

Sattar, M A; Sultana, M T; Ahmed, S

2018-01-01

Branchial arch anomalies are one of the most common congenital anomalies of the neck. Developmental anomalies of the branchial apparatus account for 17% of all pediatric cervical masses. This study aimed to focus on proper diagnosis of branchial anomaly and describe occurrence, presentation, management and outcome of usual and unusual types. This ten-year prospective observational study was conducted from November 2005 to November 2015 including 2-year postoperative follow-up of the patients in Department of ENT, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. Total 89 patients were enrolled for this study. Information was recorded on Clinical examination, relevant investigation, Per-operative findings and Histo-pathological findings. After receiving Histo-pathological findings 61 cases were proved as branchial arch anomalies. Ultrasonography and Histopathology was done for every patient. Fistulogram and sinogram was done for patient of fistula and sinus respectively. CT scan was needed for 9 patients, MRI for 3 patients and 12 patient undergone FNAC. Outcomes of those patients were described in terms of Hospital stay, Complications and Follow up studies. Data analysis was done by Standard Statistical Method.Presentation of a number of participant's mimics Branchial arch anomalies; 4.91% was syndromal. Second branchial arch anomalies were the highest. Management was exclusively surgical. Recurrence rate was about 6.56%. Surgery is the tool for diagnosis, treatment, preventing complications, avoiding carcinoma for branchial arch anomalies.

MR imaging features of the congenital uterine anomalies

International Nuclear Information System (INIS)

Hamcan, S.; Akgun, V.; Battal, B.; Kocaoglu, M.

2012-01-01

Full text: Introduction: Congenital uterine anomalies are common and usually asymptomatic. The agenesis, malfusion or deficient resorption of the Mullerian canals during embryogenesis may lead to these anomalies. Although ultrasonography (US) is the first step imaging technique in assessment of the uterine pathologies, it can be insufficient in differentiation of them. Magnetic resonance (MR) imaging is an adequate imaging technique in depicting pelvic anatomy and different types of uterine anomalies. Objectives and tasks: In this article, we aimed to present imaging features of the uterine anomalies. Material and methods: Pelvic MR scans of the cases who were referred to our radiology department for suspicious uterine anomaly were evaluated retrospectively. Results: We determined uniconuate uterus (type II), uterus didelphys (type III), bicornuate uterus (type IV), uterine septum (type V) and arcuate uterus (type VI) anomalies according to ASRM (American Society of Reproductive Medicine) classification. Conclusion: In cases with such pathologies leading to obstruction, dysmenorrhea or palpable pelvic mass in the puberty are the main clinical presentations. In cases without obstruction, infertility or multiple abortions can be encountered in reproductive ages. The identification of the subtype of the uterine anomalies is important for the preoperative planning of the management. MR that has multiplanar imaging capability and high soft tissue resolution is a non-invasive and the most important imaging modality for the detection and classification of the uterine anomalies

Ionospheric Anomaly before Kyushu|Japan Earthquake

Directory of Open Access Journals (Sweden)

YANG Li

2017-05-01

Full Text Available GIM data released by IGS is used in the article and a new method of combining the Sliding Time Window Method and the Ionospheric TEC correlation analysis method of adjacent grid points is proposed to study the relationship between pre-earthquake ionospheric anomalies and earthquake. By analyzing the abnormal change of TEC in the 5 grid points around the seismic region, the abnormal change of ionospheric TEC is found before the earthquake and the correlation between the TEC sequences of lattice points is significantly affected by earthquake. Based on the analysis of the spatial distribution of TEC anomaly, anomalies of 6 h, 12 h and 6 h were found near the epicenter three days before the earthquake. Finally, ionospheric tomographic technology is used to do tomographic inversion on electron density. And the distribution of the electron density in the ionospheric anomaly is further analyzed.

Detection of Airway Anomalies in?Pediatric?Patients with Cardiovascular Anomalies with Low Dose Prospective ECG-Gated Dual-Source CT

OpenAIRE

Jiao, Hui; Xu, Zhuodong; Wu, Lebin; Cheng, Zhaoping; Ji, Xiaopeng; Zhong, Hai; Meng, Chen

2013-01-01

OBJECTIVES: To assess the feasibility of low-dose prospective ECG-gated dual-source CT (DSCT) in detecting airway anomalies in pediatric patients with cardiovascular anomalies compared with flexible tracheobronchoscopy (FTB). METHODS: 33 pediatrics with respiratory symptoms who had been revealed cardiovascular anomalies by transthoracic echocardiography underwent FTB and contrast material-enhanced prospective ECG-triggering CT were enrolled. The study was approved by our institution review bo...

Global magnetic anomaly and aurora of Neptune

International Nuclear Information System (INIS)

Cheng, A.F.

1990-01-01

The large offset and tilt of Neptune's dipole magnetic field combine to create a global magnetic anomaly, analogous to but much more important than Earth's South Atlantic Anomaly. Energetic particle precipitation loss within the Neptune anomaly creates atmospheric drift shadows within which particle fluxes are greatly reduced. The energetic particle dropout observed by Voyager near closest approach occurred near the predicted times when Voyager passed within the atmospheric drift shadow. Extremely soft, structured bursts of ions and electrons within the drift shadow may result from plasma wave-induced pitch angle scattering of trapped particles confined near the magnetic equator. The dropout does not necessarily imply that Voyager passed through an Earth-like discrete auroral zone, as earlier reported. The ion and electron fluxes observed within the dropout period correspond to particles that must precipitate to Neptune's atmosphere within the anomaly region. This anomaly precipitation can account for a major portion of the ultraviolet emissions previously identified as Neptune aurora

DOWN'S ANOMALY.

Science.gov (United States)

PENROSE, L.S.; SMITH, G.F.

BOTH CLINICAL AND PATHOLOGICAL ASPECTS AND MATHEMATICAL ELABORATIONS OF DOWN'S ANOMALY, KNOWN ALSO AS MONGOLISM, ARE PRESENTED IN THIS REFERENCE MANUAL FOR PROFESSIONAL PERSONNEL. INFORMATION PROVIDED CONCERNS (1) HISTORICAL STUDIES, (2) PHYSICAL SIGNS, (3) BONES AND MUSCLES, (4) MENTAL DEVELOPMENT, (5) DERMATOGLYPHS, (6) HEMATOLOGY, (7)…

Anomalies and modular invariance in string theory

International Nuclear Information System (INIS)

Schellekens, A.N.; Warner, N.P.

1986-01-01

All known anomaly cancellations of heterotic string theories are derived directly from one-loop modular invariance, and are shown to be related to a property of modular functions of weight 2. Using modular invariance infinite classes of anomaly free field theories are constructed in (8m+2) dimensions for any m. A generating function is obtained for the anomalies of string-related field theories in (8m+2) dimensions. (orig.)

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

Science.gov (United States)

Auger, Julie; Baptiste, Amandine; Benabbad, Imane; Thierry, Gaëlle; Costa, Jean-Marc; Amouyal, Mélanie; Kottler, Marie-Laure; Leheup, Bruno; Touraine, Renaud; Schmitt, Sébastien; Lebrun, Marine; Cormier Daire, Valérie; Bonnefont, Jean-Paul; de Roux, Nicolas; Elie, Caroline; Rosilio, Myriam

2016-01-01

The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis. Among 205 index cases and 100 related cases, 91.3% had LWD. For index cases, median age at evaluation was 11.7 (9.0; 15.9) years and mean height standard deviation score was -2.3 ± 1.1. A deletion of either SHOX or PAR1 or both was found in 74% of patients. Duplications and point mutations/indels affected 8 and 18% of the population, respectively. Genotype-phenotype correlation showed that deletions were more frequently associated with Madelung deformity and mesomelic shortening in girls, as well as with presence of radiologic anomalies, than duplications. Our results highlight genotype-phenotype relationships in the French population with a SHOX defect and provide new information showing that clinical expression is milder in cases of duplication compared to deletions. © 2016 S. Karger AG, Basel.

Upper mantle seismic velocity anomaly beneath southern Taiwan as revealed by teleseismic relative arrival times

Science.gov (United States)

Chen, Po-Fei; Huang, Bor-Shouh; Chiao, Ling-Yun

2011-01-01

Probing the lateral heterogeneity of the upper mantle seismic velocity structure beneath southern and central Taiwan is critical to understanding the local tectonics and orogeny. A linear broadband array that transects southern Taiwan, together with carefully selected teleseismic sources with the right azimuth provides useful constraints. They are capable of differentiating the lateral heterogeneity along the profile with systematic coverage of ray paths. We implement a scheme based on the genetic algorithm to simultaneously determine the relative delayed times of the teleseismic first arrivals of array data. The resulting patterns of the delayed times systematically vary as a function of the incident angle. Ray tracing attributes the observed variations to a high velocity anomaly dipping east in the mantle beneath the southeast of Taiwan. Combining the ray tracing analysis and a pseudo-spectral method to solve the 2-D wave propagations, we determine the extent of the anomaly that best fits the observations via the forward grid search. The east-dipping fast anomaly in the upper mantle beneath the southeast of Taiwan agrees with the results from several previous studies and indicates that the nature of the local ongoing arc-continent collision is likely characterized by the thin-skinned style.

Anomalies of Nuclear Criticality, Revision 6

Energy Technology Data Exchange (ETDEWEB)

Clayton, E. D.; Prichard, Andrew W.; Durst, Bonita E.; Erickson, David; Puigh, Raymond J.

2010-02-19

This report is revision 6 of the Anomalies of Nuclear Criticality. This report is required reading for the training of criticality professionals in many organizations both nationally and internationally. This report describes many different classes of nuclear criticality anomalies that are different than expected.

Simple recipe for holographic Weyl anomaly

Energy Technology Data Exchange (ETDEWEB)

Bugini, F. [Departamento de Física, Facultad de Ciencias Físicas y Matemáticas, Universidad de Concepción,Casilla 160-C, Concepción (Chile); Diaz, D.E. [Departamento de Ciencias Físicas, Facultad de Ciencias Exactas, Universidad Andres Bello,Autopista Concepción-Talcahuano 7100, Talcahuano (Chile)

2017-04-20

We propose a recipe — arguably the simplest — to compute the holographic type-B Weyl anomaly for general higher-derivative gravity in asymptotically AdS spacetimes. In 5 and 7 dimensions we identify a suitable basis of curvature invariants that allows to read off easily, without any further computation, the Weyl anomaly coefficients of the dual CFT. We tabulate the contributions from quadratic, cubic and quartic purely algebraic curvature invariants and also from terms involving derivatives of the curvature. We provide few examples, where the anomaly coefficients have been obtained by other means, to illustrate the effectiveness of our prescription.

Magnetic anomalies in the Cosmonauts Sea, off East Antarctica

Science.gov (United States)

Nogi, Y.; Hanyu, T.; Fujii, M.

2017-12-01

Identification of magnetic anomaly lineations and fracture zone trends in the Southern Indian Ocean, are vital to understanding the breakup of Gondwana. However, the magnetic spreading anomalies and fracture zones are not clear in the Southern Indian Ocean. Magnetic anomaly lineations in the Cosmonauts Sea, off East Antarctica, are key to elucidation of separation between Sri Lanka/India and Antarctica. No obvious magnetic anomaly lineations are observed from a Japanese/German aerogeophysical survey in the Cosmonauts Sea, and this area is considered to be created by seafloor spreading during the Cretaceous Normal Superchron. Vector magnetic anomaly measurements have been conducted on board the Icebreaker Shirase mainly to understand the process of Gondwana fragmentation in the Indian Ocean. Magnetic boundary strikes are derived from vector magnetic anomalies obtained in the Cosmonauts Sea. NE-SW trending magnetic boundary strikes are mainly observed along the several NW-SE oriented observation lines with magnetic anomaly amplitudes of about 200 nT. These NE-SW trending magnetic boundary strikes possibly indicate M-series magnetic anomalies that can not be detected from the aerogeophysical survey with nearly N-S observation lines. We will discuss the magnetic spreading anomalies and breakup process between Sri Lanka/India and Antarctica in the Cosmonauts Sea.

Graph anomalies in cyber communications

Energy Technology Data Exchange (ETDEWEB)

Vander Wiel, Scott A [Los Alamos National Laboratory; Storlie, Curtis B [Los Alamos National Laboratory; Sandine, Gary [Los Alamos National Laboratory; Hagberg, Aric A [Los Alamos National Laboratory; Fisk, Michael [Los Alamos National Laboratory

2011-01-11

Enterprises monitor cyber traffic for viruses, intruders and stolen information. Detection methods look for known signatures of malicious traffic or search for anomalies with respect to a nominal reference model. Traditional anomaly detection focuses on aggregate traffic at central nodes or on user-level monitoring. More recently, however, traffic is being viewed more holistically as a dynamic communication graph. Attention to the graph nature of the traffic has expanded the types of anomalies that are being sought. We give an overview of several cyber data streams collected at Los Alamos National Laboratory and discuss current work in modeling the graph dynamics of traffic over the network. We consider global properties and local properties within the communication graph. A method for monitoring relative entropy on multiple correlated properties is discussed in detail.

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

Science.gov (United States)

Rabe, P; Haverkamp, F; Emons, D; Rosskamp, R; Zerres, K; Passarge, E

1991-12-01

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

Conformal anomaly actions for dilaton interactions

Directory of Open Access Journals (Sweden)

Rose Luigi Delle

2014-01-01

Full Text Available We discuss, in conformally invariant field theories such as QCD with massless fermions, a possible link between the perturbative signature of the conformal anomaly, in the form of anomaly poles of the 1-particle irreducible effective action, and its descrip- tion in terms of Wess-Zumino actions with a dilaton. The two descriptions are expected to capture the UV and IR behaviour of the conformal anomaly, in terms of fundamental and effective degrees of freedom respectively, with the dilaton effective state appearing in a nonlinear realization. As in the chiral case, conformal anomalies seem to be related to the appearance of these effective interactions in the 1PI action in all the gauge-invariant sectors of the Standard Model. We show that, as a consequence of the underlying anomalous symmetry, the infinite hierarchy of recurrence relations involving self-interactions of the dilaton is entirely determined only by the first four of them. This relation can be generalized to any even space-time dimension.

Needs for reactivity anomaly monitoring in CRBRP

International Nuclear Information System (INIS)

Bullock, J.B.

1975-01-01

Two general classifications of reactivity anomalies are defined and explicit design criteria and operational philosophy for an anomaly monitoring system for the Clinch River Breeder Reactor are presented. (JWR)

Improved prenatal detection of chromosomal anomalies

DEFF Research Database (Denmark)

Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U

2011-01-01

Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

Modeling of self-potential anomalies near vertical dikes.

Science.gov (United States)

Fitterman, D.V.

1983-01-01

The self-potential (SP) Green's function for an outcropping vertical dike is derived from solutions for the dc resistivity problem for the same geometry. The Green's functions are numerically integrated over rectangular source regions on the contacts between the dike and the surrounding material to obtain the SP anomaly. The analysis is valid for thermoelectrical source mechanisms. Two types of anomalies can be produced by this geometry. When the two source planes are polarized in opposite directions, a monopolar anomaly is produced. This corresponds to the thermoelectrical properties of the dike being in contrast with the surrounding material. When the thermoelectric coefficients change monotonically across the dike, a dipolar anomaly is produced. In either case positive and negative anomalies are possible, and the greatest variation in potential will occur in the most resistive regions. -Author

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

Science.gov (United States)

Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

2013-11-01

The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

Structure of gauge and gravitational anomalies*

International Nuclear Information System (INIS)

Alvarez-Gaume, L.; Ginsparg, P.

1985-01-01

It is shown how the form of the gauge and gravitational anomalies in quantum field theories may be derived from classical index theorems. The gravitational anomaly in both Einstein and Lorentz form is considered and their equivalence is exhibited. The formalism of gauge and gravitational theories is reviewed using the language of differential geometry, and notions from the theory of characteristic classes necessary for understanding the classical index theorems are introduced. The treatment of known topological results includes a pedagogical derivation of the Wess-Zumino effective Lagrangian in abitrary even dimension. The relation between various forms of the anomaly present in the literature is also clarified

Application of isostatic gravity anomaly in the Yellow Sea area

Science.gov (United States)

Hao, Z.; Qin, J.; Huang, W.; Wu, X.

2017-12-01

In order to study the deep crustal structure of the Yellow Sea area, we used the Airy-Heiskanen model to calculate the isostatic gravity anomaly of this area. Based on the Bouguer gravity anomaly and water depth data of this area, we chose the calculating parameters as standard crustal thickness 30 km, crust-mantle density difference 0.6g/cm3and grid spacing 0.1°×0.1°. This study reveals that there are six faults and four isostatic negative anomalies in the study area. The isostatic anomalies in much of Yellow Sea areas give priority to those with positive anomalies. The isostatic anomalies in North Yellow Sea are higher than South Yellow Sea with Jiashan-Xiangshui fault as the boundary. In the north of the study area, isostatic anomalies are characterized by large areas of positive anomaly. The change is relatively slow, and the trends give priority to the trend NE or NEE. In the middle of the north Yellow Sea basin, there is a local negative anomaly, arranged as a string of beads in NE to discontinuous distribution. Negative anomaly range is small, basically corresponds to the region's former Cenozoic sedimentary basin position. To the south of Jiashan-Xiangshui fault and west of Yellow Sea eastern margin fault, including most of the south Yellow Sea and Jiangsu province, the isostatic anomalies are lower. And the positive and negative anomalies are alternative distribution, and negative anomaly trap in extensive development. The trends give priority to NE, NEE, both to the NW. On the basis of the characteristics of isostatic gravity anomalies, it is concluded that the Yellow Sea belongs to continental crustal isostatic area whose isostatic anomalies is smooth and slow. ReferencesHeiskanen, W. A., F. A. V. Meinesz, and S. A. Korff (1958), The Earth and Its Gravity Field, McGraw-Hill, New York. Meng, X. J., X. H. Zhang, and J. Y. Yang (2014), Geophysical survey in eastern China seas and the characteristics of gravity and magnetic fields, Marine Geoglogy

Axial anomaly at finite temperature and finite density

International Nuclear Information System (INIS)

Qian Zhixin; Su Rukeng; Yu, P.K.N.

1994-01-01

The U(1) axial anomaly in a hot fermion medium is investigated by using the real time Green's function method. After calculating the lowest order triangle diagrams, we find that finite temperature as well as finite fermion density does not affect the axial anomaly. The higher order corrections for the axial anomaly are discussed. (orig.)

Dental anomalies in primary dentition and their corresponding permanent teeth.

Science.gov (United States)

Gomes, R R; Fonseca, J A C; Paula, L M; Acevedo, A C; Mestrinho, H D

2014-05-01

The objectives of this paper are to estimate the prevalence of dental anomalies in primary dentition in a sample of 2- to 5-year-old Brazilian preschool children, determine their distribution, and investigate their occurrence in the succedaneous teeth of the sample compared with a control group of children with no dental anomalies in the primary dentition. The one-stage sample comprised 1,718 two to five-year-old children with fully erupted primary dentition clinically examined for dental anomalies. All children presenting dental anomalies underwent panoramic radiographs. Descriptive statistics were performed for the studied variables. A control group matched by sex and age was studied to compare the prevalence ratio for dental anomalies in the permanent dentition. The prevalence of dental anomalies in the primary dentition was 1.8 %, with no significant statistical difference between sexes. Double teeth were the most frequently observed. Dental anomalies on the succedaneous permanent teeth were diagnosed in 54.8 % of the children with affected primary dentition. The prevalence ratio (PR) for dental anomalies in the succedaneous permanent teeth was 17.1 (confidence interval (CI) 5.33-54.12) higher compared with the control group, higher in children with bilateral anomalies (PR = 31.2, CI 10.18-94.36). An association between anomalies of the permanent dentition and the presence of dental anomalies in primary teeth was observed, especially when they occur bilaterally. The results in the present study have a clinical relevance in the diagnosis of children with dental anomalies in primary dentition. Early identification of these anomalies can aid the dentist in planning dental treatment at the appropriate time.

Marine magnetic anomalies off Ratnagiri, Western continental shelf of India

Digital Repository Service at National Institute of Oceanography (India)

Rao, D.G.

of magnetic anomalies. Two-dimensional model and spectral studies of these anomalies were carried out, and subsurface models of the geology in the area have been derived from anomalies at a number of places. The results suggest that the anomalies occur over a...

Network anomaly detection a machine learning perspective

CERN Document Server

Bhattacharyya, Dhruba Kumar

2013-01-01

With the rapid rise in the ubiquity and sophistication of Internet technology and the accompanying growth in the number of network attacks, network intrusion detection has become increasingly important. Anomaly-based network intrusion detection refers to finding exceptional or nonconforming patterns in network traffic data compared to normal behavior. Finding these anomalies has extensive applications in areas such as cyber security, credit card and insurance fraud detection, and military surveillance for enemy activities. Network Anomaly Detection: A Machine Learning Perspective presents mach

Satellite magnetic anomalies of the Antarctic crust

Directory of Open Access Journals (Sweden)

D. E. Alsdorf

2000-06-01

Full Text Available Spatially and temporally static crustal magnetic anomalies are contaminated by static core field effects above spherical harmonic degree 12 and dynamic, large-amplitude external fields. To extract crustal magnetic anomalies from the measurements of NASA's Magsat mission, we separate crustal signals from both core and external field effects. In particular, we define Magsat anomalies relative to the degree 11 field and use spectral correlation theory to reduce them for external field effects. We obtain a model of Antarctic crustal thickness by comparing the region's terrain gravity effects to free-air gravity anomalies derived from the Earth Gravity Model 1996 (EGM96. To separate core and crustal magnetic effects, we obtain the pseudo-magnetic effect of the crustal thickness variations from their gravity effect via Poisson's theorem for correlative potentials. We compare the pseudo-magnetic effect of the crustal thickness variations to field differences between degrees 11 and 13 by spectral correlation analysis. We thus identify and remove possible residual core field effects in the Magsat anomalies relative to the degree 11 core field. The resultant anomalies reflect possible Antarctic contrasts due both to crustal thickness and intracrustal variations of magnetization. In addition, they provide important constraints on the geologic interpretation of aeromagnetic survey data, such as are available for the Weddell Province. These crustal anomalies also may be used to correct for long wavelength errors in regional compilations of near-surface magnetic survey data. However, the validity of these applications is limited by the poor quality of the Antarctic Magsat data that were obtained during austral Summer and Fall when south polar external field activity was maximum. Hence an important test and supplement for the Antarctic crustal Magsat anomaly map will be provided by the data from the recently launched Ørsted mission, which will yield coverage

On the trace anomaly of a Weyl fermion

Energy Technology Data Exchange (ETDEWEB)

Bastianelli, Fiorenzo; Martelli, Riccardo [Dipartimento di Fisica e Astronomia, Università di Bologna,via Irnerio 46, I-40126 Bologna (Italy); INFN - Sezione di Bologna,via Irnerio 46, I-40126 Bologna (Italy)

2016-11-29

We calculate the trace anomaly of a Weyl fermion coupled to gravity by using Fujikawa’s method supplemented by a consistent regulator. The latter is constructed out of Pauli-Villars regulating fields. The motivation for presenting such a calculation stems from recent studies that suggest that the trace anomaly of chiral fermions in four dimensions might contain an imaginary part proportional to the Pontryagin density. We find that the trace anomaly of a Weyl fermion is given by half the trace anomaly of a Dirac fermion, so that no imaginary part proportional to the Pontryagin density is seen to arise.

Muon g−2 in anomaly mediated SUSY breaking

International Nuclear Information System (INIS)

Chowdhury, Debtosh; Yokozaki, Norimi

2015-01-01

Motivated by two experimental facts, the muon g−2 anomaly and the observed Higgs boson mass around 125 GeV, we propose a simple model of anomaly mediation, which can be seen as a generalization of mixed modulus-anomaly mediation. In our model, the discrepancy of the muon g−2 and the Higgs boson mass around 125 GeV are easily accommodated. The required mass splitting between the strongly and weakly interacting SUSY particles are naturally achieved by the contribution from anomaly mediation. This model is easily consistent with SU(5) or SO(10) grand unified theory.

Muon g−2 in anomaly mediated SUSY breaking

Energy Technology Data Exchange (ETDEWEB)

Chowdhury, Debtosh; Yokozaki, Norimi [Istituto Nazionale di Fisica Nucleare, Sezione di Roma,Piazzale Aldo Moro 2, I-00185 Rome (Italy)

2015-08-24

Motivated by two experimental facts, the muon g−2 anomaly and the observed Higgs boson mass around 125 GeV, we propose a simple model of anomaly mediation, which can be seen as a generalization of mixed modulus-anomaly mediation. In our model, the discrepancy of the muon g−2 and the Higgs boson mass around 125 GeV are easily accommodated. The required mass splitting between the strongly and weakly interacting SUSY particles are naturally achieved by the contribution from anomaly mediation. This model is easily consistent with SU(5) or SO(10) grand unified theory.

Congenital anomalies of the limbs in mythology and antiquity.

Science.gov (United States)

Mavrogenis, Andreas F; Markatos, Konstantinos; Nikolaou, Vasilios; Gartziou-Tatti, Ariadne; Soucacos, Panayotis N

2018-04-01

Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these anomalies; however, from the very beginning of civilization the spiritual status of people attempted to find a logical explanation for the existence of such cases. The next logical step of the spiritual and religious system of the ancients was to correlate these anomalies with the Gods and to attribute them to a different level of existence in order to rationalize their existence. In these settings, the mythology and religious beliefs of ancient civilizations comprised several creatures that were related to the observed congenital anomalies in humans. The purpose of this historic review is to summarize the depiction of congenital anomalies of the limbs in mythology and antiquity, to present several mythological creatures with resemblance to humans with congenital anomalies of the limbs, to present the atmosphere of the era concerning the congenital anomalies, and to theorize on the anomaly and medical explanation upon which such creatures were depicted. Our aim is to put historic information in one place, creating a comprehensive review that the curious reader would find interesting and enjoyable.

THE PREVALENCE OF DENTAL ANOMALIES IN A TURKISH POPULATION

Directory of Open Access Journals (Sweden)

Gamze Aren

2015-10-01

Full Text Available Purpose: The aim of the present study was to investigate the prevalence of dental anomalies in a Turkish population according to the gender and age. Materials and Methods: A retrospective study was performed using panoramic radiographs of 2025 patients (885 males and 1140 females ranging in age from 9 to 35 (mean age 25.61±10.04 years attending Department of Oral Radiology, University of Istanbul, Faculty of Dentistry. These patients were examined to determine the presence of developmental dental anomalies involving hypodontia, hyperdontia, microdontia, taurodontism and other root anomalies. The incidence of these anomalies were assessed according to the gender and age. Results: Among the 2025 subjects, a total of 96 individuals (42 males and 54 females showed at least one of the selected dental anomalies (4.74%. Tooth agenesis was the most common dental abnormality (1.77% followed by taurodontism (1.18%, hyperdontia (0.79%, microdontia (0.54% and root anomalies (0.44%, respectively. Conclusion: Tooth agenesis is the most common developmental dental anomaly in the studied Turkish population followed by taurodontism.

The prevalence of dental anomalies in a turkish population.

Science.gov (United States)

Aren, Gamze; Guven, Yeliz; Guney Tolgay, Ceren; Ozcan, Ilknur; Bayar, Ozlem Filiz; Kose, Taha Emre; Koyuncuoglu, Gulhan; Ak, Gulsum

2015-01-01

The aim of the present study was to investigate the prevalence of dental anomalies in a Turkish population according to the gender and age. A retrospective study was performed using panoramic radiographs of 2025 patients (885 males and 1140 females) ranging in age from 9 to 35 (mean age 25.61±10.04) years attending Department of Oral Radiology, University of Istanbul, Faculty of Dentistry. These patients were examined to determine the presence of developmental dental anomalies involving hypodontia, hyperdontia, microdontia, taurodontism and other root anomalies. The incidence of these anomalies were assessed according to the gender and age. Among the 2025 subjects, a total of 96 individuals (42 males and 54 females) showed at least one of the selected dental anomalies (4.74%). Tooth agenesis was the most common dental abnormality (1.77%) followed by taurodontism (1.18%), hyperdontia (0.79%), microdontia (0.54%) and root anomalies (0.44%), respectively. Tooth agenesis is the most common developmental dental anomaly in the studied Turkish population followed by taurodontism.

Mesotron Decays and the Role of Anomalies

OpenAIRE

Bardeen, William A.

2007-01-01

Puzzles associated with Yukawa's mesotron theory of nuclear interactions led to the discovery of "anomalies" in quantum field theory. I will discuss some of the remarkable consequences of these anomalies in the physics of elementary particles.

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

Dimensional reduction in anomaly mediation

International Nuclear Information System (INIS)

Boyda, Ed; Murayama, Hitoshi; Pierce, Aaron

2002-01-01

We offer a guide to dimensional reduction in theories with anomaly-mediated supersymmetry breaking. Evanescent operators proportional to ε arise in the bare Lagrangian when it is reduced from d=4 to d=4-2ε dimensions. In the course of a detailed diagrammatic calculation, we show that inclusion of these operators is crucial. The evanescent operators conspire to drive the supersymmetry-breaking parameters along anomaly-mediation trajectories across heavy particle thresholds, guaranteeing the ultraviolet insensitivity

[Clinical and genetic aspects of albinism].

Science.gov (United States)

Arveiler, Benoit; Lasseaux, Eulalie; Morice-Picard, Fanny

Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far. The broad phenotypic variability between the different forms but also within a particular form renders the establishment of phenotype-genotype correlations impossible. A genetic test exploring all 19 genes is necessary to establish the diagnosis and to distinguish between syndromic and non-syndromic forms. We present the creation of an albinism-dedicated Day Hospital at the University Hospital of Bordeaux. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

NARCIS (Netherlands)

Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.

Anomaly General Circulation Models.

Science.gov (United States)

Navarra, Antonio

The feasibility of the anomaly model is assessed using barotropic and baroclinic models. In the barotropic case, both a stationary and a time-dependent model has been formulated and constructed, whereas only the stationary, linear case is considered in the baroclinic case. Results from the barotropic model indicate that a relation between the stationary solution and the time-averaged non-linear solution exists. The stationary linear baroclinic solution can therefore be considered with some confidence. The linear baroclinic anomaly model poses a formidable mathematical problem because it is necessary to solve a gigantic linear system to obtain the solution. A new method to find solution of large linear system, based on a projection on the Krylov subspace is shown to be successful when applied to the linearized baroclinic anomaly model. The scheme consists of projecting the original linear system on the Krylov subspace, thereby reducing the dimensionality of the matrix to be inverted to obtain the solution. With an appropriate setting of the damping parameters, the iterative Krylov method reaches a solution even using a Krylov subspace ten times smaller than the original space of the problem. This generality allows the treatment of the important problem of linear waves in the atmosphere. A larger class (nonzonally symmetric) of basic states can now be treated for the baroclinic primitive equations. These problem leads to large unsymmetrical linear systems of order 10000 and more which can now be successfully tackled by the Krylov method. The (R7) linear anomaly model is used to investigate extensively the linear response to equatorial and mid-latitude prescribed heating. The results indicate that the solution is deeply affected by the presence of the stationary waves in the basic state. The instability of the asymmetric flows, first pointed out by Simmons et al. (1983), is active also in the baroclinic case. However, the presence of baroclinic processes modifies the

Invesigation of prevalence of dental anomalies by using digital panoramic radiographs.

Science.gov (United States)

Bilge, Nebiha Hilal; Yeşiltepe, Selin; Törenek Ağırman, Kübra; Çağlayan, Fatma; Bilge, Osman Murat

2017-09-21

This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6 to 40 year-old patients by using panoramic radiographs. This cross-sectional study was conducted by analyzing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental anomalies were divided into five types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism); RESULTS: The prevalence of dental anomalies diagnosed by panoramic radiographs was 39.2% (men (46%), women (54%)). Anomalies of position (60.8%) and shape (27.8%) were the most common types of abnormalities and anomalies of size (8.2%), structure (0.2%) and number (17%) were the least in both genders. Anomalies of impaction (45.5%), dilacerations (16.3%), hypodontia (13.8%) and taurodontism (11.2%) were the most common subtypes of dental anomalies. Taurodontism was more common in the age groups of 13-19 years. The age range of the most frequent of all other anomalies was 20-29. Anomalies of tooth position were the most common type of dental anomalies and structure anomalies were the least in this Turkish dental population. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental anomalies. Digital panoramic radiography is a very useful method for the detection of dental anomalies.

Penile Anomalies in Adolescence

Directory of Open Access Journals (Sweden)

Dan Wood

2011-01-01

Full Text Available This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.

Penile anomalies in adolescence.

Science.gov (United States)

Wood, Dan; Woodhouse, Christopher

2011-03-07

This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias) are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring) in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.

Thermodynamic mechanism of density anomaly of liquid water

Directory of Open Access Journals (Sweden)

Makoto eYasutomi

2015-03-01

Full Text Available Although density anomaly of liquid water has long been studied by many different authors up to now, it is not still cleared what thermodynamic mechanism induces the anomaly. The thermodynamic properties of substances are determined by interparticle interactions. We analyze what characteristics of pair potential cause the density anomaly on the basis of statistical mechanics and thermodynamics using a thermodynamically self-consistent Ornstein-Zernike approximation (SCOZA. We consider a fluid of spherical particles with a pair potential given by a hard-core repulsion plus a soft-repulsion and an attraction. We show that the density anomaly occurs when the value of the soft-repulsive potential at hard-core contact is in some proper range, and the range depends on the attraction. Further, we show that the behavior of the excess internal energy plays an essential role in the density anomaly and the behavior is mainly determined by the values of the soft-repulsive potential, especially near the hard core contact. Our results show that most of ideas put forward up to now are not the direct causes of the density anomaly of liquid water.

[Surgical treatment of first branchial cleft anomaly].

Science.gov (United States)

Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

2005-10-01

To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

Chiral anomalies in higher dimensional supersymmetric theories

International Nuclear Information System (INIS)

Bonora, L.; Pasti, P.; Tonin, M.

1987-01-01

We derive explicit formulas for pure gauge anomalies in a SYM theory in 6D as well as in 10D. Each anomaly consists of two terms: a gauge cocycle and a cocycle of the superdiffeomorphisms. The derivation is based essentially on a remarkable property of supersymmetric theories which we call Weil triviality and is directly connected with the constraints. The analogous problem for Lorentz anomalies is stated in the same way. However, in general, there are difficulties concerning Weil triviality. We prove that for pure SUGRA in 6D as well as in 10D it is possible to prove Weil triviality and, consequently, to obtain explict expressions for pure Lorentz anomalies. However, as far as SUGRA coupled to SYM a la Chapline-Manton or a la Green-Schwarz is concerned, no self-evident solution is available. (orig.)

Major congenital anomalies in babies born with Down syndrome

DEFF Research Database (Denmark)

Morris, Joan K; Garne, Ester; Wellesley, Diana

2014-01-01

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

Symmetric scaling properties in global surface air temperature anomalies

Science.gov (United States)

Varotsos, Costas A.; Efstathiou, Maria N.

2015-08-01

We have recently suggested "long-term memory" or internal long-range correlation within the time-series of land-surface air temperature (LSAT) anomalies in both hemispheres. For example, an increasing trend in the LSAT anomalies is followed by another one at a different time in a power-law fashion. However, our previous research was mainly focused on the overall long-term persistence, while in the present study, the upward and downward scaling dynamics of the LSAT anomalies are analysed, separately. Our results show that no significant fluctuation differences were found between the increments and decrements in LSAT anomalies, over the whole Earth and over each hemisphere, individually. On the contrary, the combination of land-surface air and sea-surface water temperature anomalies seemed to cause a departure from symmetry and the increments in the land and sea surface temperature anomalies appear to be more persistent than the decrements.

Genetic background of supernumerary teeth.

Science.gov (United States)

Subasioglu, Asli; Savas, Selcuk; Kucukyilmaz, Ebru; Kesim, Servet; Yagci, Ahmet; Dundar, Munis

2015-01-01

Supernumerary teeth (ST) are odontostomatologic anomaly characterized by as the existence excessive number of teeth in relation to the normal dental formula. This condition is commonly seen with several congenital genetic disorders such as Gardner's syndrome, cleidocranial dysostosis and cleft lip and palate. Less common syndromes that are associated with ST are; Fabry Disease, Ellis-van Creveld syndrome, Nance-Horan syndrome, Rubinstein-Taybi Syndrome and Trico-Rhino-Phalangeal syndrome. ST can be an important component of a distinctive disorder and an important clue for early diagnosis. Certainly early detecting the abnormalities gives us to make correct management of the patient and also it is important for making well-informed decisions about long-term medical care and treatment. In this review, the genetic syndromes that are related with ST were discussed.

Electroweak gauge anomaly and the new physics scale

International Nuclear Information System (INIS)

Akama, K.; Hattori, T.

1992-01-01

It is argued that chiral anomalies in the effective gauge theories are allowed, as far as the new physics scale is not too large. In this paper, the authors estimate the anomaly-induced masses of the weak bosons, when the anomalies exist in the electroweak gauge theory, and compare them with the experimental results to extract the upper bound on the new-physics scale

Anomaly cancellation condition in abelian lattice gauge theories

International Nuclear Information System (INIS)

Suzuki, Hiroshi

1999-11-01

We analyze the general solution of the Wess-Zumino consistency condition in abelian lattice gauge theories, without taking the classical continuum limit. We find that, if the anomaly density is a local pseudo-scalar field on the lattice, the non-trivial anomaly is always proportional to the anomaly coefficient in the continuum theory. The possible extension of this result to non-abelian theories is briefly discussed. (author)

Heat flow anomalies and their interpretation

Science.gov (United States)

Chapman, David S.; Rybach, Ladislaus

1985-12-01

More than 10,000 heat flow determinations exist for the earth and the data set is growing steadily at about 450 observations per year. If heat flow is considered as a surface expression of geothermal processes at depth, the analysis of the data set should reveal properties of those thermal processes. They do, but on a variety of scales. For this review heat flow maps are classified by 4 different horizontal scales of 10 n km (n = 1, 2, 3 and 4) and attention is focussed on the interpretation of anomalies which appear with characteristic dimensions of 10 (n - 1) km in the respective representations. The largest scale of 10 4 km encompasses heat flow on a global scale. Global heat loss is 4 × 10 13 W and the process of sea floor spreading is the principal agent in delivering much of this heat to the surface. Correspondingly, active ocean ridge systems produce the most prominent heat flow anomalies at this scale with characteristic widths of 10 3 km. Shields, with similar dimensions, exhibit negative anomalies. The scale of 10 3 km includes continent wide displays. Heat flow patterns at this scale mimic tectonic units which have dimensions of a few times 10 2 km, although the thermal boundaries between these units are sometimes sharp. Heat flow anomalies at this scale also result from plate tectonic processes, and are associated with arc volcanism, back arc basins, hot spot traces, and continental rifting. There are major controversies about the extent to which these surface thermal provinces reflect upper mantle thermal conditions, and also about the origin and evolution of the thermal state of continental lithosphere. Beginning with map dimensions of 10 2 km thermal anomalies of scale 10 1 km, which have a definite crustal origin, become apparent. The origin may be tectonic, geologic, or hydrologic. Ten kilometers is a common wavelength of topographic relief which drives many groundwater flow systems producing thermal anomalies. The largest recognized continental

The power of stories in Pediatrics and Genetics.

Science.gov (United States)

Opitz, John M; Pavone, Lorenzo; Corsello, Giovanni

2016-04-05

On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was "Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel". The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world.

Magnetic resonance imaging of pediatric soft-tissue vascular anomalies

International Nuclear Information System (INIS)

Navarro, Oscar M.

2016-01-01

Magnetic resonance (MR) imaging can be used in the management of pediatric soft-tissue vascular anomalies for diagnosing and assessing extent of lesions and for evaluating response to therapy. MR imaging studies often involve a combination of T1- and T2-weighted images in addition to MR angiography and fat-suppressed post-contrast sequences. The MR imaging features of these vascular anomalies when combined with clinical findings can aid in diagnosis. In cases of complex vascular malformations and syndromes associated with vascular anomalies, MR imaging can be used to evaluate accompanying soft-tissue and bone anomalies. This article reviews the MR imaging protocols and appearances of the most common pediatric soft-tissue vascular anomalies. (orig.)

Supersymmetric regulators and supercurrent anomalies

International Nuclear Information System (INIS)

Majumdar, P.; Poggio, E.C.; Schnitzer, H.J.

1980-01-01

The supercurrent anomalies of the supercurrent deltasub(μ) of the supersymmetric Yang-Mills theory in Wess-Zumino gauge are computed using the supersymmetric dimensional regulator of Siegel. It is shown that γsub(μ)deltasup(μ) = 0 and deltasub(μ)deltasup(μ) unequal 0 in agreement with an earlier calculation based on the Adler-Rosenberg method. The problem of exhibiting the chiral anomaly and a regulator for local supersymmetry suggests that the interpretation of dimensional reduction in component language is incomplete. (orig.)

Singlet deflected anomaly/gauge mediation

International Nuclear Information System (INIS)

Blas, J. de; Delgado, A.

2012-01-01

We study an extension of the standard anomaly/gauge mediation scenario where the messenger fields have direct interactions with an extra gauge singlet. This realizes a phenomenologically viable NMSSM-like scenario free of the μ-b μ problem. Current cosmological constraints imply a small size for the anomaly-mediation contributions, unless some source of R-parity violation is permitted. In the latter case the allowed regions in the parameter space can be substantially larger than in the corresponding gauge-mediation scenario.

Multicriteria Similarity-Based Anomaly Detection Using Pareto Depth Analysis.

Science.gov (United States)

Hsiao, Ko-Jen; Xu, Kevin S; Calder, Jeff; Hero, Alfred O

2016-06-01

We consider the problem of identifying patterns in a data set that exhibits anomalous behavior, often referred to as anomaly detection. Similarity-based anomaly detection algorithms detect abnormally large amounts of similarity or dissimilarity, e.g., as measured by the nearest neighbor Euclidean distances between a test sample and the training samples. In many application domains, there may not exist a single dissimilarity measure that captures all possible anomalous patterns. In such cases, multiple dissimilarity measures can be defined, including nonmetric measures, and one can test for anomalies by scalarizing using a nonnegative linear combination of them. If the relative importance of the different dissimilarity measures are not known in advance, as in many anomaly detection applications, the anomaly detection algorithm may need to be executed multiple times with different choices of weights in the linear combination. In this paper, we propose a method for similarity-based anomaly detection using a novel multicriteria dissimilarity measure, the Pareto depth. The proposed Pareto depth analysis (PDA) anomaly detection algorithm uses the concept of Pareto optimality to detect anomalies under multiple criteria without having to run an algorithm multiple times with different choices of weights. The proposed PDA approach is provably better than using linear combinations of the criteria, and shows superior performance on experiments with synthetic and real data sets.

Focal skin defect, limb anomalies and microphthalmia.

NARCIS (Netherlands)

Jackson, K.E.; Andersson, H.C.

2004-01-01

We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

Skyrmions and anomalies

International Nuclear Information System (INIS)

Rho, M.

1987-02-01

The author summarizes the works presented at the meeting on skyrmions and anomalies. He divides the principal issues of this workshop into five categories: QCD effective lagrangians, chiral bags and the Cheshire cat principle, strangeness problem, phenomenology, mathematical structure

Prevalence of inner ear anomalies among cochlear implant candidates.

Science.gov (United States)

Aldhafeeri, Ahmad M; Alsanosi, Abdulrahman A

2016-10-01

To determine the prevalence of inner ear anomalies and the frequency of different anomaly types among cochlear implant recipients. This study included a retrospective chart review of all patients who received cochlear implants between January 2009 and January 2013 in King Abdulaziz University Hospital cochlear implant program in Riyadh, Saudi Arabia. All subjects underwent thin-cut CT of the temporal bone and MRI. The collected data included age, gender, and CT and MRI findings regarding temporal bone anomalies. Patients with any identified congenital inner ear anomalies were included in the study.  In total, 316 patients' cases were reviewed. Inner ear malformations were identified in 24 patients, which represented a prevalence of 7.5%. Among these 24 patients, 8 (33.3%) presented with a large vestibular aqueduct (LVA), 8 (33.3%) semicircular canal (SCC) dysplasia, 7 (29.1%) classical Mondini deformity, and one (4.1%) cochlear hypoplasia. The prevalence of inner ear anomalies among cochlear implant recipients was 7.5%. This result is consistent with findings worldwide. The most common anomalies were LVA and SCC hypoplasia; by contrast, in other regions, the most common anomaly is either the Mondini deformity, or LVA.

Global anomalies in chiral gauge theories on the lattice

International Nuclear Information System (INIS)

Baer, O.; Campos, I.

2000-01-01

We discuss the issue of global anomalies in chiral gauge theories on the lattice. In Luescher's approach, these obstructions make it impossible to define consistently a fermionic measure for the path integral. We show that an SU(2) theory has such a global anomaly if the Weyl fermion is in the fundamental representation. The anomaly in higher representations is also discussed. We finally show that this obstruction is the lattice analogue of the SU(2) anomaly first discovered by Witten. (orig.)

CT diagnosis of congenital anomalies of the central nervous system

International Nuclear Information System (INIS)

Mori, Koreaki

1980-01-01

In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

Multiple Visceral and Peritoneal Anomalies

Directory of Open Access Journals (Sweden)

Gayathri Prabhu S

2016-07-01

Full Text Available Visceral and peritoneal anomalies are frequently encountered during cadaveric dissections and surgical procedures of abdomen. A thorough knowledge of the same is required for the success of diagnostic, surgical and radiological procedures of abdomen. We report multiple peritoneal and visceral anomalies noted during dissection classes for medical undergraduates. The anomalies were found in an adult male cadaver aged approximately 70 years. The right iliac fossa was empty due to the sub-hepatic position of caecum and appendix. The sigmoid colon formed an inverted “U” shaped loop above the sacral promontory in the median position. It entered the pelvis from the right side and descended along the lateral wall of the pelvis. The sigmoid mesocolon was attached obliquely to the posterior abdominal wall, just above the sacral promontory. Further there was a cysto-colic fold of peritoneum extending from the right colic flexure. We discuss the clinical significance of the variations.

Flavorful hybrid anomaly-gravity mediation

International Nuclear Information System (INIS)

Gross, Christian; Hiller, Gudrun

2011-01-01

We consider supersymmetric models where anomaly and gravity mediation give comparable contributions to the soft terms and discuss how this can be realized in a five-dimensional brane world. The gaugino mass pattern of anomaly mediation is preserved in such a hybrid setup. The flavorful gravity-mediated contribution cures the tachyonic slepton problem of anomaly mediation. The supersymmetric flavor puzzle is solved by alignment. We explicitly show how a working flavor-tachyon link can be realized with Abelian flavor symmetries and give the characteristic signatures of the framework, including O(1) slepton mass splittings between different generations and between doublets and singlets. This provides opportunities for same flavor dilepton edge measurements with missing energy at the Large Hadron Collider (LHC). Rare lepton decay rates could be close to their current experimental limit. Compared to pure gravity mediation, the hybrid model is advantageous because it features a heavy gravitino which can avoid the cosmological gravitino problem of gravity-mediated models combined with leptogenesis.

Type II first branchial cleft anomaly.

Science.gov (United States)

Al-Mahdi, Akmam H; Al-Khurri, Luay E; Atto, Ghada Z; Dhaher, Ameer

2013-01-01

First branchial cleft anomaly is a rare disease of the head and neck. It accounts for less than 8% of all branchial abnormalities. It is classified into type I, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type II that have ectoderm and mesoderm. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. A 9-year-old girl presented to us with fistula in the submandibular region and discharge in the external ear. Under general anesthesia, complete surgical excision of the fistula tract was done through step-ladder approach, and the histopathologic examination confirmed the diagnosis of type II first branchial cleft anomaly.

Anomaly-based Network Intrusion Detection Methods

Directory of Open Access Journals (Sweden)

Pavel Nevlud

2013-01-01

Full Text Available The article deals with detection of network anomalies. Network anomalies include everything that is quite different from the normal operation. For detection of anomalies were used machine learning systems. Machine learning can be considered as a support or a limited type of artificial intelligence. A machine learning system usually starts with some knowledge and a corresponding knowledge organization so that it can interpret, analyse, and test the knowledge acquired. There are several machine learning techniques available. We tested Decision tree learning and Bayesian networks. The open source data-mining framework WEKA was the tool we used for testing the classify, cluster, association algorithms and for visualization of our results. The WEKA is a collection of machine learning algorithms for data mining tasks.

Limb anomaly and associated conditions: our clinical experience

Directory of Open Access Journals (Sweden)

Ragavan M

2011-03-01

Full Text Available Munisamy Ragavan1, Uppalu Haripriya1, Janarthanam Sarvavinothini2, Nagaraja Rao3, Ramamoorthy Gokulkrishnan31Department of Pediatric Surgery, 2Department of Anesthesia, 3Department of Pediatrics, Narayana Medical College and Superspeciality Hospital, Nellore, Andhra Pradesh, IndiaAbstract: Limb anomalies are a common clinical problem with a various spectrum of involvement. There are many conditions associated with these anomalies. There is a variable extent of involvement in the form of agenesis, overgrowth, and duplication, and there is no standard classification to describe all these lesions. Studying limb anomalies provides insights into limb development which may be useful for etiologic studies and public health monitoring. We pooled our data for 12 limb anomaly cases presenting from January 2008 to May 2009 and investigated their associated conditions. A descriptive system for the nomenclature and classification of congenital limb malformations suitable for clinical, epidemiological, and experimental use is discussed.Keywords: limb anomaly, phocomelia, amelia 

Implementation of molecular karyotyping in clinical genetics

Directory of Open Access Journals (Sweden)

Luca Lovrecic

2013-11-01

Full Text Available Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome. Chromosomal microarrays, which allow us to perform tens of thousands of previously individual experiments simultaneously, are being utilized in all areas of human genetics and genomics. Initially, this was applicable only for research purposes, but in the last few years their clinical diagnostic purposes are becoming more and more relevant. Using molecular karyotyping (also chromosomal microarray, comparative genomic hybridization with microarray, aCGH, one can analyze microdeletions / microduplications in the whole human genome at once. It is a first-tier cytogenetic diagnostic test instead of G-banded karyotyping in patients with developmental delay and/or congenital anomalies. Molecular karyotyping is used as a diagnostic test in patients with unexplained developmental delay and/or idiopathic intellectual disability and/or dysmorphic features and/or multiple congenital anomalies (DD/ID/DF/MCA. In addition, the method is used in prenatal diagnostics and in some centres also in preimplantation genetic diagnosis.The aim of this paper is to inform the professional community in the field about this new diagnostic method and its implementation in Slovenia, and to define the clinical situations where the method is appropriate.

Frequency of developmental dental anomalies in the Indian population.

Science.gov (United States)

Guttal, Kruthika S; Naikmasur, Venkatesh G; Bhargava, Puneet; Bathi, Renuka J

2010-07-01

To evaluate the frequency of developmental dental anomalies in the Indian population. This prospective study was conducted over a period of 1 year and comprised both clinical and radiographic examinations in oral medicine and radiology outpatient department. Adult patients were screened for the presence of dental anomalies with appropriate radiographs. A comprehensive clinical examination was performed to detect hyperdontia, talon cusp, fused teeth, gemination, concrescence, hypodontia, dens invaginatus, dens evaginatus, macro- and microdontia and taurodontism. Patients with syndromes were not included in the study. Of the 20,182 patients screened, 350 had dental anomalies. Of these, 57.43% of anomalies occurred in male patients and 42.57% occurred in females. Hyperdontia, root dilaceration, peg-shaped laterals (microdontia), and hypodontia were more frequent compared to other dental anomalies of size and shape. Dental anomalies are clinically evident abnormalities. They may be the cause of various dental problems. Careful observation and appropriate investigations are required to diagnose the condition and institute treatment.

GENETIC ASPECTS OF AUTISM

Directory of Open Access Journals (Sweden)

Anastas LAKOSKI

1997-06-01

Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

On the axial anomalies in external tensor fields

International Nuclear Information System (INIS)

Khudaverdyan, O.M.; Mkrtchyan, R.L.; Zurabyan, L.A.

1985-01-01

Computation of the axial anomaly for Dirac fermions in external tensor fields is studied. The sequence of the supersymmetric one-dimensional models is presented. Their supercharges are equal, after quantization, to Dirac operators in external tensor fields, and the density of Witten's partition function gives the anomaly. It is shown that action in the corresponding path integral differs from the classical one. Gaussian approximation gives the anomaly only in the case of third-rank tensor with zero exterior derivative and in that case anomaly is calculated in all dimensions. The interpretation of that field as the torsion of gravitational field and also connection with the results of Witten and Alvarez-Gaume and Atiyah-Singer index theorem are discussed

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

2016-01-01

Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

Prevalence and distribution of selected developmental dental anomalies in an Indian population.

Science.gov (United States)

Gupta, Saurabh K; Saxena, Payal; Jain, Sandhya; Jain, Deshraj

2011-06-01

The purpose of this study was to determine the prevalence of developmental dental anomalies in an Indian population and to statistically analyze the distribution of these anomalies. The study was based on clinical examination, evaluation of dental casts, and panoramic radiographs of 1123 Indian subjects (572 males, 551 females), who visited the outpatient clinic at Government Dental College, Indore between November 2009 and September 2010, after obtaining their informed consent. These patients were examined for the following developmental dental anomalies: shape anomalies (microdontia, talon cusp, dens evaginatus, fusion, taurodontism), number anomalies (hypodontia, oligodontia, anodontia), structural anomalies (amelogenesis imperfecta, dentinogenesis imperfecta) and positional anomalies (ectopic eruption, rotation, impaction). The percentages of these anomalies were assessed for the whole group and compared using statistical analysis. Among the 1123 subjects, a total of 385 individuals (34.28%) presented with the selected developmental dental anomalies. The distribution by sex was 197 males (34.44%), and 188 females (34.06%). Out of the total 1123 individuals, 351 (31.26%) exhibited at least one anomaly, 28 (2.49 %) showed two anomalies and 6 (0.53%) displayed more than two anomalies. P values indicated that the dental anomalies were statistically independent of sex. On intergroup comparison, positional anomalies were significantly most prevalent (P dental anomaly was rotation (10.24%), followed by ectopic eruption (7.93%). The next common group was number anomalies. The most common number anomaly was hypodontia (4.19%), which had a higher frequency than hyperdontia (2.40%). Analyzing the next prevalent group of shape anomalies, microdontia (2.58%) was found to be the most common, followed by taurodontism (2.49%), dens evaginatus (2.40%) and talon cusp (0.97%). Dentinogenesis imperfecta (0.09%) was the rarest, followed by amelogenesis imperfecta (0.27%) and fusion

Recent developments in the path integral approach to anomalies

International Nuclear Information System (INIS)

Fujikawa, Kazuo.

1986-08-01

After a brief summary of the path integral approach to anomalous identities, some of the recent developments in this approach are discussed. The topics discussed include (i) Construction of the effective action by means of the covariant current, (ii) Gauss law constraint in anomalous gauge theories, (iii) Path integral approach to anomalies in superconformal transformations, (iv) Conformal and ghost number anomalies in string theory in analogy with the instanton calculation, (v) Covariant local Lorentz anomaly and its connection with the mathematical construction of the consistent anomaly. (author)

Characteristics of uranium geological anomaly in Northern Guangdong province

International Nuclear Information System (INIS)

Wang Xinwu; Cheng Danping

2001-01-01

The geological anomaly characteristics of uranium deposit region in northern Guangdong are discussed on the aspects of uranium source, structure and thermal activity. Uranium deposits usually occur in the uranium-rich background field. Structure activity provides favourable places for the transportation and precipitation of uranium. Uranium deposits are formed in the central and edge of frequent thermal activity. The assembled entropy anomaly field is the synthetical display for above three anomaly. The biggest assembled entropy anomaly is the most favourable space field for forming uranium deposit

An Unsupervised Deep Hyperspectral Anomaly Detector

Directory of Open Access Journals (Sweden)

Ning Ma

2018-02-01

Full Text Available Hyperspectral image (HSI based detection has attracted considerable attention recently in agriculture, environmental protection and military applications as different wavelengths of light can be advantageously used to discriminate different types of objects. Unfortunately, estimating the background distribution and the detection of interesting local objects is not straightforward, and anomaly detectors may give false alarms. In this paper, a Deep Belief Network (DBN based anomaly detector is proposed. The high-level features and reconstruction errors are learned through the network in a manner which is not affected by previous background distribution assumption. To reduce contamination by local anomalies, adaptive weights are constructed from reconstruction errors and statistical information. By using the code image which is generated during the inference of DBN and modified by adaptively updated weights, a local Euclidean distance between under test pixels and their neighboring pixels is used to determine the anomaly targets. Experimental results on synthetic and recorded HSI datasets show the performance of proposed method outperforms the classic global Reed-Xiaoli detector (RXD, local RX detector (LRXD and the-state-of-the-art Collaborative Representation detector (CRD.

Analyzing Spatiotemporal Anomalies through Interactive Visualization

Directory of Open Access Journals (Sweden)

Tao Zhang

2014-06-01

Full Text Available As we move into the big data era, data grows not just in size, but also in complexity, containing a rich set of attributes, including location and time information, such as data from mobile devices (e.g., smart phones, natural disasters (e.g., earthquake and hurricane, epidemic spread, etc. We are motivated by the rising challenge and build a visualization tool for exploring generic spatiotemporal data, i.e., records containing time location information and numeric attribute values. Since the values often evolve over time and across geographic regions, we are particularly interested in detecting and analyzing the anomalous changes over time/space. Our analytic tool is based on geographic information system and is combined with spatiotemporal data mining algorithms, as well as various data visualization techniques, such as anomaly grids and anomaly bars superimposed on the map. We study how effective the tool may guide users to find potential anomalies through demonstrating and evaluating over publicly available spatiotemporal datasets. The tool for spatiotemporal anomaly analysis and visualization is useful in many domains, such as security investigation and monitoring, situation awareness, etc.

Kohn anomaly in phonon driven superconductors

International Nuclear Information System (INIS)

Das, M P; Chaudhury, R

2014-01-01

Anomalies often occur in the physical world. Sometimes quite unexpectedly anomalies may give rise to new insight to an unrecognized phenomenon. In this paper we shall discuss about Kohn anomaly in a conventional phonon-driven superconductor by using a microscopic approach. Recently Aynajian et al.'s experiment showed a striking feature; the energy of phonon at a particular wave-vector is almost exactly equal to twice the energy of the superconducting gap. Although the phonon mechanism of superconductivity is well known for many conventional superconductors, as has been noted by Scalapino, the new experimental results reveal a genuine puzzle. In our recent work we have presented a detailed theoretical analysis with the help of microscopic calculations to unravel this mystery. We probe this aspect of phonon behaviour from the properties of electronic polarizability function in the superconducting phase of a Fermi liquid metal, leading to the appearance of a Kohn singularity. We show the crossover to the standard Kohn anomaly of the normal phase for temperatures above the transition temperature. Our analysis provides a nearly complete explanation of this new experimentally discovered phenomenon. This report is a shorter version of our recent work in JPCM.

Morning glory disc anomaly: A case report | Saraswat | Nigerian ...

African Journals Online (AJOL)

Morning glory disc anomaly: A case report. Neeraj K. Saraswat, Ravi Ranjan, Dipendra Shukla, Sushil Ojha. Abstract. A rare case of congenital anomaly of the optic disc is presented to draw attention to the occurrence of this anomaly in rural India. The typical case presented with excavated, enlarged colobomatous optic ...

Dental Anomalies in a Brazilian Cleft Population.

Science.gov (United States)

Sá, Jamile; Mariano, Lorena C; Canguçu, Daiane; Coutinho, Thaynara S L; Hoshi, Ryuichi; Medrado, Alena Peixoto; Martelli-Junior, Hercílio; Coletta, Ricardo D; Reis, Silvia R A

2016-11-01

  The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P).   A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed.   Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P dental agenesis (P dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

Science.gov (United States)

Guerin, Andrea; So, Joyce; Mireskandari, Kamiar; Jougeh-Doust, Soghra; Chisholm, Caitlin; Klatt, Regan; Richer, Julie

2015-02-01

Ocular anomalies have been frequently reported in Noonan syndrome. Anterior segment anomalies have been described in 57% of PTPN11 positive patients, with the most common findings being corneal changes and in particular, prominent corneal nerves and cataracts. We report on a neonate with a confirmed PTPN11 mutation and ocular findings consistent with Axenfeld anomaly. The patient initially presented with non-immune hydrops and subsequently developed hypertrophic cardiomyopathy and dysmorphic features typical of Noonan syndrome. While a pathogenic mutation in PTPN11 was confirmed, prior testing for the two common genes associated with Axenfeld-Rieger syndrome, PITX2, and FOXC1 was negative. This finding expands the spectrum of anterior chamber anomalies seen in Noonan syndrome and perhaps suggests a common neural crest related mechanism that plays a critical role in the development of the eye and other organs. © 2014 Wiley Periodicals, Inc.

Branchial Cleft Anomalies

Science.gov (United States)

McPhail, Neil; Mustard, Robert A.

1966-01-01

The embryology, anatomy and pathology of branchial cleft anomalies are discussed and 87 cases reviewed. The most frequent anomaly was branchial cleft cyst, of which there were 77 cases. Treatment in all cases consisted of complete excision. There were five cases of external branchial sinus and five cases of complete branchial fistula. Sinograms were helpful in demonstrating these lesions. Excision presented little difficulty. No proved case of branchiogenic carcinoma has been found in the Toronto General Hospital. Five cases are described in which the original diagnosis was branchiogenic carcinoma—in four of these a primary tumour has already been found. The authors believe that the diagnosis of branchiogenic carcinoma should never be accepted until repeated examinations over a period of at least five years have failed to reveal a primary tumour. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:5901161

Neural mechanisms of rapid sensitivity to syntactic anomaly

Directory of Open Access Journals (Sweden)

Albert E. Kim

2013-03-01

Full Text Available Recent psycholinguistic models hypothesize that anticipatory processing can speed the response to linguistic input during language comprehension by pre-activating representations necessary for word recognition. We investigated the neurocognitive mechanisms of anticipatory processing by recording event-related brain responses (ERPs to syntactically anomalous (The thief was caught by for police and well-formed (e.g., The thief was caught by the police sentences. One group of participants saw anomalies elicited by the same word in every instance (e.g., for; low-variability stimuli, providing high affordances for predictions about the word-form appearing in the critical position. A second group saw anomalies elicited by seven different prepositions (at, of, on, for, from, over, with; high-variability stimuli across the study, creating a more difficult prediction task. Syntactic category anomalies enhanced the occipital-temporal N170 component of the ERP, indicating rapid sensitivity—within 200 ms of word onset—to syntactic anomaly. For low-variability but not the high-variability stimuli, syntactic anomaly also enhanced the earlier occipital-temporal P1 component, around 130 ms after word-onset, indicating that affordances for prediction engendered earlier sensitivity to syntactic anomaly. Independent components analysis revealed three sources within the ERP signal whose functional dynamics were consistent with predictive processing and early responses to syntactic anomaly. Distributed neural source modeling (sLORETA of these early-active sources produced a candidate network for early responses to words during reading in the right posterior-occipital, left occipital-temporal, and medial parietal cortex.

Branchial cleft anomalies: CT evaluation

Energy Technology Data Exchange (ETDEWEB)

Seok, Eul Hye; Park, Chan Sup [College of Medicine, Inha University, Seongnam (Korea, Republic of)

1994-04-15

The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape.

Branchial cleft anomalies: CT evaluation

International Nuclear Information System (INIS)

Seok, Eul Hye; Park, Chan Sup

1994-01-01

The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape

Nonrelativistic trace and diffeomorphism anomalies in particle number background

Science.gov (United States)

Auzzi, Roberto; Baiguera, Stefano; Nardelli, Giuseppe

2018-04-01

Using the heat kernel method, we compute nonrelativistic trace anomalies for Schrödinger theories in flat spacetime, with a generic background gauge field for the particle number symmetry, both for a free scalar and a free fermion. The result is genuinely nonrelativistic, and it has no counterpart in the relativistic case. Contrary to naive expectations, the anomaly is not gauge invariant; this is similar to the nongauge covariance of the non-Abelian relativistic anomaly. We also show that, in the same background, the gravitational anomaly for a nonrelativistic scalar vanishes.

Characteristics of chiral anomaly in view of various applications

Science.gov (United States)

Fujikawa, Kazuo

2018-01-01

In view of the recent applications of chiral anomaly to various fields beyond particle physics, we discuss some basic aspects of chiral anomaly which may help deepen our understanding of chiral anomaly in particle physics also. It is first shown that Berry's phase (and its generalization) for the Weyl model H =vFσ →.p →(t ) assumes a monopole form at the exact adiabatic limit but deviates from it off the adiabatic limit and vanishes in the high frequency limit of the Fourier transform of p →(t ) for bounded |p →(t )|. An effective action, which is consistent with the nonadiabatic limit of Berry's phase, combined with the Bjorken-Johnson-Low prescription, gives normal equal-time space-time commutators and no chiral anomaly. In contrast, an effective action with a monopole at the origin of the momentum space, which describes Berry's phase in the precise adiabatic limit but fails off the adiabatic limit, gives anomalous space-time commutators and a covariant anomaly to the gauge current. We regard this anomaly as an artifact of the postulated monopole and not a consequence of Berry's phase. As for the recent application of the chiral anomaly to the description of effective Weyl fermions in condensed matter and nuclear physics, which is closely related to the formulation of lattice chiral fermions, we point out that the chiral anomaly for each species doubler separately vanishes for a finite lattice spacing, contrary to the common assumption. Instead, a general form of pair creation associated with the spectral flow for the Dirac sea with finite depth takes place. This view is supported by the Ginsparg-Wilson fermion, which defines a single Weyl fermion without doublers on the lattice and gives a well-defined index (anomaly) even for a finite lattice spacing. A different use of anomaly in analogy to the partially conserved axial-vector current is also mentioned and could lead to an effect without fermion number nonconservation.

Monitoring of congenital anomalies in Japan

International Nuclear Information System (INIS)

Kuroki, Y.; Konishi, H.

1992-01-01

Birth defects monitoring system is one of the most effective strategies to prevent birth defects mainly caused by environmental factors. Six different monitoring systems are working in Japan. Three of them are population-based and the other three hospital-based, both are widely scattered in Japan. Basic methodological designs of all birth defects monitoring systems are same. Therefore, the combination of them seems to be ideal. Total number of births surveyed in all systems are 283,000 annually. Each system has already accumulated relevant baseline data. Birth defects monitoring has another function to test the safety of widely exposed factors such as smoking, alcohol, low dose radiations, etc. Maternal smoking has some adverse effects on morphogenesis of the fetus. However, low dose radiations during or before pregnancy have no significant teratogenic effects on the fetus. The genetic effects of the Chernobyl nuclear power plant accident was studied. The annual effective dose equivalent to Japanese population due to radioactive fallout from the accident was assessed to be 5 μSv/y. No measurable mutagenic effects were recognized in Kanagawa by the analysis of three sentinel anomalies. (author)

Quantum machine learning for quantum anomaly detection

Science.gov (United States)

Liu, Nana; Rebentrost, Patrick

2018-04-01

Anomaly detection is used for identifying data that deviate from "normal" data patterns. Its usage on classical data finds diverse applications in many important areas such as finance, fraud detection, medical diagnoses, data cleaning, and surveillance. With the advent of quantum technologies, anomaly detection of quantum data, in the form of quantum states, may become an important component of quantum applications. Machine-learning algorithms are playing pivotal roles in anomaly detection using classical data. Two widely used algorithms are the kernel principal component analysis and the one-class support vector machine. We find corresponding quantum algorithms to detect anomalies in quantum states. We show that these two quantum algorithms can be performed using resources that are logarithmic in the dimensionality of quantum states. For pure quantum states, these resources can also be logarithmic in the number of quantum states used for training the machine-learning algorithm. This makes these algorithms potentially applicable to big quantum data applications.

An Entropy-Based Network Anomaly Detection Method

Directory of Open Access Journals (Sweden)

Przemysław Bereziński

2015-04-01

Full Text Available Data mining is an interdisciplinary subfield of computer science involving methods at the intersection of artificial intelligence, machine learning and statistics. One of the data mining tasks is anomaly detection which is the analysis of large quantities of data to identify items, events or observations which do not conform to an expected pattern. Anomaly detection is applicable in a variety of domains, e.g., fraud detection, fault detection, system health monitoring but this article focuses on application of anomaly detection in the field of network intrusion detection.The main goal of the article is to prove that an entropy-based approach is suitable to detect modern botnet-like malware based on anomalous patterns in network. This aim is achieved by realization of the following points: (i preparation of a concept of original entropy-based network anomaly detection method, (ii implementation of the method, (iii preparation of original dataset, (iv evaluation of the method.

Anomaly Detection using the "Isolation Forest" algorithm

CERN Multimedia

CERN. Geneva

2015-01-01

Anomaly detection can provide clues about an outlying minority class in your data: hackers in a set of network events, fraudsters in a set of credit card transactions, or exotic particles in a set of high-energy collisions. In this talk, we analyze a real dataset of breast tissue biopsies, with malignant results forming the minority class. The "Isolation Forest" algorithm finds anomalies by deliberately “overfitting” models that memorize each data point. Since outliers have more empty space around them, they take fewer steps to memorize. Intuitively, a house in the country can be identified simply as “that house out by the farm”, while a house in the city needs a longer description like “that house in Brooklyn, near Prospect Park, on Union Street, between the firehouse and the library, not far from the French restaurant”. We first use anomaly detection to find outliers in the biopsy data, then apply traditional predictive modeling to discover rules that separate anomalies from normal data...

Anomalies, Beta Functions, and GUT's

International Nuclear Information System (INIS)

Aranda, Alfredo; Diaz-Cruz, J. L.; Rojas, Alma D.

2009-01-01

In the framework of supersymmetric Grand Unified theories it is possible to extend the minimal Higgs sectors of the models by introducing high dimension (anomaly free) representations. For example, in the minimal SU(5) supersymmetric Grand Unified Model, this is done to obtain phenomenological viable fermion mass relations and/or to solve the doublet-triplet splitting problem. In this work we explore models with different anomaly free combinations of SU(5) representations motivated by the flavour problem as well as their effect on perturbative validity of the gauge coupling evolution.

First branchial complex anomalies: report of 3 cases

International Nuclear Information System (INIS)

Goten, A. van der; Hermans, R.; Hover, P. van; Crevits, I.; Baert, A.L.

1997-01-01

Three cases of first branchial cleft anomalies are presented. The embryology and pathology of first branchial complex anomalies, their imaging characteristics and differential diagnosis are discussed. (orig.). With 3 figs

First branchial complex anomalies: report of 3 cases

Energy Technology Data Exchange (ETDEWEB)

Goten, A. van der [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Hermans, R. [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Hover, P. van [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Crevits, I. [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium); Baert, A.L. [Department of Radiology, University Hospitals, Catholic University of Leuven, Leuven (Belgium)

1997-02-01

Three cases of first branchial cleft anomalies are presented. The embryology and pathology of first branchial complex anomalies, their imaging characteristics and differential diagnosis are discussed. (orig.). With 3 figs.

European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

DEFF Research Database (Denmark)

Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca

2014-01-01

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention t...

Chiral lattice fermions, minimal doubling, and the axial anomaly

International Nuclear Information System (INIS)

Tiburzi, B. C.

2010-01-01

Exact chiral symmetry at finite lattice spacing would preclude the axial anomaly. In order to describe a continuum quantum field theory of Dirac fermions, lattice actions with purported exact chiral symmetry must break the flavor-singlet axial symmetry. We demonstrate that this is indeed the case by using a minimally doubled fermion action. For simplicity, we consider the Abelian axial anomaly in two dimensions. At finite lattice spacing and with gauge interactions, the axial anomaly arises from nonconservation of the flavor-singlet current. Similar nonconservation also leads to the axial anomaly in the case of the naieve lattice action. For minimally doubled actions, however, fine-tuning of the action and axial current is necessary to arrive at the anomaly. Conservation of the flavor nonsinglet vector current additionally requires the current to be fine-tuned. Finally, we determine that the chiral projection of a minimally doubled fermion action can be used to arrive at a lattice theory with an undoubled Dirac fermion possessing the correct anomaly in the continuum limit.

Associated genetic syndromes and extracardiac malformations strongly influence outcomes of fetuses with congenital heart diseases.

Science.gov (United States)

Bensemlali, Myriam; Bajolle, Fanny; Ladouceur, Magalie; Fermont, Laurent; Lévy, Marilyne; Le Bidois, Jérôme; Salomon, Laurent J; Bonnet, Damien

2016-05-01

Congenital heart disease (CHD) is often associated with extracardiac malformations (ECMs) and genetic syndromes. To determine the effect of cytogenetic anomalies and/or ECMs associated with CHD on parental decision to choose termination of pregnancy (TOP) or compassionate care (CC), as well as on the outcome of children born alive. This 10-year retrospective study included all prenatally diagnosed cases of CHD in a single tertiary referral centre. From January 2002 to December 2011, 2036 consecutive cases of fetal CHD (798 TOPs and 1238 live births, including 59 with postnatal CC) were included. CHD was associated with a known cytogenetic anomaly in 9.8% of cases and a major ECM in 11.7% of cases. The proportion of prenatally identified associated cytogenetic anomalies was significantly lower in the live-birth group than in the TOP plus CC group (4.2% vs 17.5%; P<0.001); this was also true for ECMs (8.1% vs 16.7%; P<0.001). The mortality rate was higher in the group with an associated cytogenetic anomaly or ECM (29.1%) than in cases with isolated CHD; a 2.4-fold increase in the death rate was observed (95% confidence interval 1.34-4.38; P=0.003). These associations remained significant after multivariable analysis, including the severity of the CHD (uni- or biventricular physiology). Prenatal diagnosis of a known cytogenetic anomaly or major ECM strongly influences parental decision to choose TOP or postnatal CC. Genetic syndromes and ECMs are associated with a higher mortality rate, independent of the complexity of the CHD. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

Science.gov (United States)

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2016-03-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.

Dental anomalies associated with cleft lip and palate in Northern Finland.

Science.gov (United States)

Lehtonen, V; Anttonen, V; Ylikontiola, L P; Koskinen, S; Pesonen, P; Sándor, G K

2015-12-01

Despite the reported occurrence of dental anomalies of cleft lip and palate, little is known about their prevalence in children from Northern Finland with cleft lip and palate. The aim was to investigate the prevalence of dental anomalies among patients with different types of clefts in Northern Finland. Design and Statistics: patient records of 139 subjects aged three years and older (with clefts treated in Oulu University Hospital, Finland during the period 1996-2010 (total n. 183) were analysed for dental anomalies including the number of teeth, morphological and developmental anomalies and their association with the cleft type. The analyses were carried out using Chi-square test and Fisher's exact test. Differences between the groups were considered statistically significant at p values dental anomaly was detected in 47% of the study population. Almost one in three (26.6%) subjects had at least one anomaly and 17.9% had two or three anomalies. The most common type of anomaly in permanent teeth were missing teeth followed by supernumerary teeth. Supernumerary teeth were significantly more apparent when the lip was involved in the cleft compared with palatal clefts. Missing teeth were less prevalent among those 5 years or younger. The prevalence of different anomalies was significantly associated with the cleft type in both age groups. Dental anomalies are more prevalent among cleft children than in the general population in Finland. The most prevalent anomalies associated with cleft were missing and supernumerary teeth.

Remarks on global anomalies in RCFT orientifolds

Energy Technology Data Exchange (ETDEWEB)

Gato-Rivera, B. [NIKHEF Theory Group, Kruislaan 409, 1098 SJ Amsterdam (Netherlands); Instituto de Matematicas y Fisica Fundamental, CSIC, Serrano 123, Madrid 28006 (Spain); Schellekens, A.N. [NIKHEF Theory Group, Kruislaan 409, 1098 SJ Amsterdam (Netherlands) and Instituto de Matematicas y Fisica Fundamental, CSIC, Serrano 123, Madrid 28006 (Spain) and IMAPP, Radboud Universiteit, Nijmegen (Netherlands)]. E-mail: t58@nikhef.nl

2006-01-26

We check the list of supersymmetric standard model orientifold spectra of Dijkstra, Huiszoon and Schellekens for the presence of global anomalies, using probe branes. Absence of global anomalies is found to impose strong constraints, but in nearly all cases they are automatically satisfied by the solutions to the tadpole cancellation conditions.

Praenatalt diagnosticeret hydronefrose og andre urologiske anomalier

DEFF Research Database (Denmark)

Cortes, Dina; Jørgensen, Troels Munch; Rittig, Søren

2006-01-01

By renal ultrasound examination, urological anomalies may be demonstrated in 1-2% of fetuses and in about 0.5% of newborns. Boys have about twice the frequency of girls. Surgical treatment is indicated in about one fourth of these urological anomalies. If all pregnant women in Denmark were to hav...

Hamiltonian formulation of anomaly free chiral bosons

International Nuclear Information System (INIS)

Abdalla, E.; Abdalla, M.C.B.; Devecchi, F.P.; Zadra, A.

1988-01-01

Starting out of an anomaly free Lagrangian formulation for chiral scalars, which a Wess-Zumino Term (to cancel the anomaly), we formulate the corresponding hamiltonian problem. Ther we use the (quantum) Siegel invariance to choose a particular, which turns out coincide with the obtained by Floreanini and Jackiw. (author) [pt

Prevalence of Dental Anomalies among School Going Children in India.

Science.gov (United States)

Kathariya, Mitesh D; Nikam, Atul Pralhad; Chopra, Kirti; Patil, Namrata N; Raheja, Hitesh; Kathariya, Renuka

2013-10-01

The purpose of the present study is to investigate the prevalence of dental anomalies according to gender among children. This cross-sectional study was conducted a group of 600 children, of them 293 (48.8%) were males and 275 (45.8%) females which were taken with proper sampling technique. Type III clinical examination was done to know the prevalence of dental anomalies. The Statistical software namely SPSS version 16.0 was used for data analysis. Chi-square test was used at p value of 0.05 or less. Impactions (39.2%) were the most common anomaly in this study and most of the impacted teeth were related to maxilla. A significant difference was seen in case of hypodontia, microdontia and talons cusp according to gender in which first two anomalies were more among females and last one among males. Children with one dental anomaly were 25.8%, and 13.4% were having more than one. The percentage of dental anomalies were high specially impaction and rotated teeth. So these anomalies should be treated earlier to avoid further complications. How to cite this article: Kathariya MD, Nikam AP, Chopra K, Patil NN, Raheja H, Kathariya R. Prevalence of Dental Anomalies among School Going Children in India. J Int Oral Health 2013; 5(5):10-4.

Anomaly mediation in superstring theory

Energy Technology Data Exchange (ETDEWEB)

Conlon, Joseph P. [Rudolf Peierls Center for Theoretical Physics, Oxford (United Kingdom); Balliol College, Oxford (United Kingdom); Goodsell, Mark [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Palti, Eran [Centre de Physique Theoretique, Ecole Polytechnique, CNRS, Palaiseau (France)

2010-08-15

We study anomaly mediated supersymmetry breaking in type IIB string theory and use our results to test the supergravity formula for anomaly mediated gaugino masses. We compute 1-loop gaugino masses for models of D3-branes on orbifold singularities with 3-form fluxes by calculating the annulus correlator of 3-form flux and two gauginos in the zero momentum limit. Consistent with supergravity expectations we find both anomalous and running contributions to 1-loop gaugino masses. For background Neveu-Schwarz H-flux we find an exact match with the supergravity formula. For Ramond-Ramond flux there is an off-shell ambiguity that precludes a full matching. The anomaly mediated gaugino masses, while determined by the infrared spectrum, arise from an explicit sum over UV open string winding modes. We also calculate brane-to-brane tree-level gravity mediated gaugino masses and show that there are two contributions coming from the dilaton and from the twisted modes, which are suppressed by the full T{sup 6} volume and the untwisted T{sup 2} volume respectively. (orig.)

Mixed global anomalies and boundary conformal field theories

OpenAIRE

Numasawa, Tokiro; Yamaguchi, Satoshi

2017-01-01

We consider the relation of mixed global gauge gravitational anomalies and boundary conformal field theory in WZW models for simple Lie groups. The discrete symmetries of consideration are the centers of the simple Lie groups. These mixed anomalies prevent to gauge them i.e, take the orbifold by the center. The absence of anomalies impose conditions on the levels of WZW models. Next, we study the conformal boundary conditions for the original theories. We consider the existence of a conformal...

A Qualitative Interpretation of Residual Magnetic Anomaly using ...

African Journals Online (AJOL)

A Qualitative Interpretation of Residual Magnetic Anomaly using Ground ... The magnetic data was collected using a G816 proton precision magnetometer. ... Analysis of residual anomaly graph reveals the existence of some structural features ...

Fourth branchial complex anomalies: a case series.

Science.gov (United States)

Shrime, Mark; Kacker, Ashutosh; Bent, John; Ward, Robert F

2003-11-01

Anomalies of the fourth branchial arch complex are exceedingly rare, with approximately forty cases reported in the literature since 1972. The authors report experience with six fourth arch anomalies. Retrospective chart review of six consecutive patients presenting to the pediatric otolaryngology service at a tertiary care center with anomalies referable to the fourth branchial arch. All six patients presented within the first or second decade of life. All six had left-sided disease. Four patients presented with recurrent neck infection, one with asymptomatic cervical masses, and one with a neck mass and respiratory compromise. One patient had prior surgery presented with a recurrence. Diagnosis of fourth arch anomalies was suggested or confirmed by computed tomography and flexible laryngoscopy. Treatment was surgical in five patients; one patient is awaiting surgery. Surgical procedures included resection of the mass and endoscopic cauterization of the inner opening of the cyst. The presentation of a cervical mass, especially with recurrent infections and especially on the left side, in a child in the first or second decade of life heightens suspicion for an anomaly of the fourth branchial arch. Diagnosis can be difficult, but is aided by the use of flexible laryngoscopy, Computed tomography (CT) scanning and ultrasonography. Surgical resection of the cyst and cauterization of its pyriform sinus opening should be undertaken to minimize recurrence.

Quantum anomalies for generalized Euclidean Taub-NUT metrics

International Nuclear Information System (INIS)

Cotaescu, Ion I; Moroianu, Sergiu; Visinescu, Mihai

2005-01-01

The generalized Taub-NUT metrics exhibit in general gravitational anomalies. This is in contrast with the fact that the original Taub-NUT metric does not exhibit gravitational anomalies, which is a consequence of the fact that it admits Killing-Yano tensors forming Staeckel-Killing tensors as products. We have found that for axial anomalies, interpreted as the index of the Dirac operator, the presence of Killing-Yano tensors is irrelevant. In order to evaluate the axial anomalies, we compute the index of the Dirac operator with the APS boundary condition on balls and on annular domains. The result is an explicit number-theoretic quantity depending on the radii of the domain. This quantity is 0 for metrics close to the original Taub-NUT metric but it does not vanish in general

A DBN based anomaly targets detector for HSI

Science.gov (United States)

Ma, Ning; Wang, Shaojun; Yu, Jinxiang; Peng, Yu

2017-10-01

Due to the assumption that Hyperspectral image (HSI) should conform to Gaussian distribution, traditional Mahalanobis distance-based anomaly targets detectors perform poor because the assumption may not always hold. In order to solve those problems, a deep learning based detector, Deep Belief Network(DBN) anomaly detector(DBN-AD), was proposed to fit the unknown distribution of HSI by energy modeling, the reconstruction errors of this encode-decode processing are used for discriminating the anomaly targets. Experiments are implemented on real and synthesized HSI dataset which collection by Airborne Visible Infra-Red Imaging Spectrometer (AVIRIS). Comparing to classic anomaly detector, the proposed method shows better performance, it performs about 0.17 higher in Area Under ROC Curve (AUC) than that of Reed-Xiaoli detector(RXD) and Kernel-RXD (K-RXD).

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

OpenAIRE

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The fourth branchial complex anomaly: a rare clinical entity.

Science.gov (United States)

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Anomaly Detection in Sequences

Data.gov (United States)

National Aeronautics and Space Administration — We present a set of novel algorithms which we call sequenceMiner, that detect and characterize anomalies in large sets of high-dimensional symbol sequences that...

Kohn anomaly in graphene

International Nuclear Information System (INIS)

Milosevic, I.; Kepcija, N.; Dobardzic, E.; Damnjanovic, M.; Mohr, M.; Maultzsch, J.; Thomsen, C.

2011-01-01

Symmetry based analysis of the Kohn anomaly is performed. Kohn phonon frequencies and displacements are calculated by force constant method. It is shown that Kohn phonon vibrations cause electronic band gap opening.

Lifshitz anomalies, Ward identities and split dimensional regularization

Energy Technology Data Exchange (ETDEWEB)

Arav, Igal; Oz, Yaron; Raviv-Moshe, Avia [Raymond and Beverly Sackler School of Physics and Astronomy, Tel-Aviv University,55 Haim Levanon street, Tel-Aviv, 69978 (Israel)

2017-03-16

We analyze the structure of the stress-energy tensor correlation functions in Lifshitz field theories and construct the corresponding anomalous Ward identities. We develop a framework for calculating the anomaly coefficients that employs a split dimensional regularization and the pole residues. We demonstrate the procedure by calculating the free scalar Lifshitz scale anomalies in 2+1 spacetime dimensions. We find that the analysis of the regularization dependent trivial terms requires a curved spacetime description without a foliation structure. We discuss potential ambiguities in Lifshitz scale anomaly definitions.

Lifshitz anomalies, Ward identities and split dimensional regularization

International Nuclear Information System (INIS)

Arav, Igal; Oz, Yaron; Raviv-Moshe, Avia

2017-01-01

We analyze the structure of the stress-energy tensor correlation functions in Lifshitz field theories and construct the corresponding anomalous Ward identities. We develop a framework for calculating the anomaly coefficients that employs a split dimensional regularization and the pole residues. We demonstrate the procedure by calculating the free scalar Lifshitz scale anomalies in 2+1 spacetime dimensions. We find that the analysis of the regularization dependent trivial terms requires a curved spacetime description without a foliation structure. We discuss potential ambiguities in Lifshitz scale anomaly definitions.

Review on possible gravitational anomalies

International Nuclear Information System (INIS)

Amador, Xavier E

2005-01-01

This is an updated introductory review of 2 possible gravitational anomalies that has attracted part of the Scientific community: the Allais effect that occur during solar eclipses, and the Pioneer 10 spacecraft anomaly, experimented also by Pioneer 11 and Ulysses spacecrafts. It seems that, to date, no satisfactory conventional explanation exist to these phenomena, and this suggests that possible new physics will be needed to account for them. The main purpose of this review is to announce 3 other new measurements that will be carried on during the 2005 solar eclipses in Panama and Colombia (Apr. 8) and in Portugal (Oct.15)

News about the genetics of congenital primary adrenal insufficiency.

Science.gov (United States)

Roucher-Boulez, Florence; Mallet-Motak, Delphine; Tardy-Guidollet, Véronique; Menassa, Rita; Goursaud, Claire; Plotton, Ingrid; Morel, Yves

2018-04-13

Primary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support. Recently discovered mutations in genes relating to oxidative stress have opened the way to research on genes unrelated to the adrenal gland. Identification of causal mutations in a gene responsible for PAI allows genetic counseling, guidance of follow-up and prevention of complications. This is particularly true for stress oxidative anomalies, as extra-adrenal manifestations may occur due to the sensitivity to oxidative stress of other organs such as the heart, thyroid, liver, kidney and pancreas. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Geophysical Anomalies and Earthquake Prediction

Science.gov (United States)

Jackson, D. D.

2008-12-01

Finding anomalies is easy. Predicting earthquakes convincingly from such anomalies is far from easy. Why? Why have so many beautiful geophysical abnormalities not led to successful prediction strategies? What is earthquake prediction? By my definition it is convincing information that an earthquake of specified size is temporarily much more likely than usual in a specific region for a specified time interval. We know a lot about normal earthquake behavior, including locations where earthquake rates are higher than elsewhere, with estimable rates and size distributions. We know that earthquakes have power law size distributions over large areas, that they cluster in time and space, and that aftershocks follow with power-law dependence on time. These relationships justify prudent protective measures and scientific investigation. Earthquake prediction would justify exceptional temporary measures well beyond those normal prudent actions. Convincing earthquake prediction would result from methods that have demonstrated many successes with few false alarms. Predicting earthquakes convincingly is difficult for several profound reasons. First, earthquakes start in tiny volumes at inaccessible depth. The power law size dependence means that tiny unobservable ones are frequent almost everywhere and occasionally grow to larger size. Thus prediction of important earthquakes is not about nucleation, but about identifying the conditions for growth. Second, earthquakes are complex. They derive their energy from stress, which is perniciously hard to estimate or model because it is nearly singular at the margins of cracks and faults. Physical properties vary from place to place, so the preparatory processes certainly vary as well. Thus establishing the needed track record for validation is very difficult, especially for large events with immense interval times in any one location. Third, the anomalies are generally complex as well. Electromagnetic anomalies in particular require

Learning Multimodal Deep Representations for Crowd Anomaly Event Detection

Directory of Open Access Journals (Sweden)

Shaonian Huang

2018-01-01

Full Text Available Anomaly event detection in crowd scenes is extremely important; however, the majority of existing studies merely use hand-crafted features to detect anomalies. In this study, a novel unsupervised deep learning framework is proposed to detect anomaly events in crowded scenes. Specifically, low-level visual features, energy features, and motion map features are simultaneously extracted based on spatiotemporal energy measurements. Three convolutional restricted Boltzmann machines are trained to model the mid-level feature representation of normal patterns. Then a multimodal fusion scheme is utilized to learn the deep representation of crowd patterns. Based on the learned deep representation, a one-class support vector machine model is used to detect anomaly events. The proposed method is evaluated using two available public datasets and compared with state-of-the-art methods. The experimental results show its competitive performance for anomaly event detection in video surveillance.

Ultraviolet and infrared aspects of the axial anomaly. I

International Nuclear Information System (INIS)

Horejsi, J.

1992-01-01

The paper is the first part of a brief review of some perturbative aspects of the Adler-Bell-Jackiw axial anomaly, described in terms of ultraviolet and infrared behavior of the famous VVA triangle graph. Apart from a general overview of the diversified role played by the anomaly in quantum field theory and particle physics, an elementary introduction is presented to the subject of the anomaly, comprehensible to an uninitiated reader with only a basic background in quantum field theory. The ultraviolet aspects of the anomaly are stressed and the topics covered are the following: vector and axial-vector Ward identities for the VVA triangle graph; the anomaly and several ways to derive it, namely the symmetric momentum cut-off and shifting the integration variables in linearly divergent integrals; the Adler-Rosenberg argument; the Pauli-Villars method; and dimensional regularization. (author) 2 figs., 34 refs

Relational databases for rare disease study: application to vascular anomalies.

Science.gov (United States)

Perkins, Jonathan A; Coltrera, Marc D

2008-01-01

To design a relational database integrating clinical and basic science data needed for multidisciplinary treatment and research in the field of vascular anomalies. Based on data points agreed on by the American Society of Pediatric Otolaryngology (ASPO) Vascular Anomalies Task Force. The database design enables sharing of data subsets in a Health Insurance Portability and Accountability Act (HIPAA)-compliant manner for multisite collaborative trials. Vascular anomalies pose diagnostic and therapeutic challenges. Our understanding of these lesions and treatment improvement is limited by nonstandard terminology, severity assessment, and measures of treatment efficacy. The rarity of these lesions places a premium on coordinated studies among multiple participant sites. The relational database design is conceptually centered on subjects having 1 or more lesions. Each anomaly can be tracked individually along with their treatment outcomes. This design allows for differentiation between treatment responses and untreated lesions' natural course. The relational database design eliminates data entry redundancy and results in extremely flexible search and data export functionality. Vascular anomaly programs in the United States. A relational database correlating clinical findings and photographic, radiologic, histologic, and treatment data for vascular anomalies was created for stand-alone and multiuser networked systems. Proof of concept for independent site data gathering and HIPAA-compliant sharing of data subsets was demonstrated. The collaborative effort by the ASPO Vascular Anomalies Task Force to create the database helped define a common vascular anomaly data set. The resulting relational database software is a powerful tool to further the study of vascular anomalies and the development of evidence-based treatment innovation.

Current Evidence and Insights about Genetics in Thoracic Aorta Disease

Science.gov (United States)

Muneretto, Claudio

2013-01-01

Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve. PMID:24453931

A novel surgical management of hypopharyngeal branchial anomalies.

Science.gov (United States)

Givens, Daniel J; Buchmann, Luke O; Park, Albert H

2015-04-01

To review our experience treating hypopharyngeal branchial anomalies utilizing an open transcervical approach that: (1) includes recurrent laryngeal nerve (RLN) monitoring and identification if needed; (2) resection of tract if present; and (3) a superiorly based sternothyroid muscle flap for closure. A retrospective chart review was performed to identify all patients at a tertiary level children's hospital with branchial anomalies from 2005 to 2014. The clinical presentation, evaluation, treatment and outcome were analyzed for those patients with hypopharyngeal branchial anomalies. Forty-seven patients who underwent excision of branchial anomalies with a known origin were identified. Thirteen patients had hypopharyngeal branchial anomalies. Six of these patients were treated by the authors of this study and are the focus of this analysis. All six underwent an open transcervical procedure with a sternothyroid muscle flap closure of a piriform sinus opening over a nine year period. Definitive surgery included a microlaryngoscopy and an open transcervical approach to close a fistula between the piriform sinus and neck with recurrent laryngeal nerve monitoring or dissection. A superiorly based sternothyroid muscle flap was used to close the sinus opening. There were no recurrences, recurrent laryngeal nerve injuries or other complications from these procedures. This study supports complete surgical extirpation of the fistula tract using an open cervical approach, recurrent laryngeal nerve monitoring or identification, and rotational muscle flap closure to treat patients with hypopharyngeal branchial anomalies. Published by Elsevier Ireland Ltd.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

Directory of Open Access Journals (Sweden)

Alpen B. Patel

2011-01-01

Full Text Available Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Network traffic anomaly prediction using Artificial Neural Network

Science.gov (United States)

Ciptaningtyas, Hening Titi; Fatichah, Chastine; Sabila, Altea

2017-03-01

As the excessive increase of internet usage, the malicious software (malware) has also increase significantly. Malware is software developed by hacker for illegal purpose(s), such as stealing data and identity, causing computer damage, or denying service to other user[1]. Malware which attack computer or server often triggers network traffic anomaly phenomena. Based on Sophos's report[2], Indonesia is the riskiest country of malware attack and it also has high network traffic anomaly. This research uses Artificial Neural Network (ANN) to predict network traffic anomaly based on malware attack in Indonesia which is recorded by Id-SIRTII/CC (Indonesia Security Incident Response Team on Internet Infrastructure/Coordination Center). The case study is the highest malware attack (SQL injection) which has happened in three consecutive years: 2012, 2013, and 2014[4]. The data series is preprocessed first, then the network traffic anomaly is predicted using Artificial Neural Network and using two weight update algorithms: Gradient Descent and Momentum. Error of prediction is calculated using Mean Squared Error (MSE) [7]. The experimental result shows that MSE for SQL Injection is 0.03856. So, this approach can be used to predict network traffic anomaly.

An Extreme-Value Approach to Anomaly Vulnerability Identification

Science.gov (United States)

Everett, Chris; Maggio, Gaspare; Groen, Frank

2010-01-01

The objective of this paper is to present a method for importance analysis in parametric probabilistic modeling where the result of interest is the identification of potential engineering vulnerabilities associated with postulated anomalies in system behavior. In the context of Accident Precursor Analysis (APA), under which this method has been developed, these vulnerabilities, designated as anomaly vulnerabilities, are conditions that produce high risk in the presence of anomalous system behavior. The method defines a parameter-specific Parameter Vulnerability Importance measure (PVI), which identifies anomaly risk-model parameter values that indicate the potential presence of anomaly vulnerabilities, and allows them to be prioritized for further investigation. This entails analyzing each uncertain risk-model parameter over its credible range of values to determine where it produces the maximum risk. A parameter that produces high system risk for a particular range of values suggests that the system is vulnerable to the modeled anomalous conditions, if indeed the true parameter value lies in that range. Thus, PVI analysis provides a means of identifying and prioritizing anomaly-related engineering issues that at the very least warrant improved understanding to reduce uncertainty, such that true vulnerabilities may be identified and proper corrective actions taken.

Anomaly Busters II

Energy Technology Data Exchange (ETDEWEB)

Anon.

1985-11-15

The anomaly busters had struck on the first day of the Kyoto meeting with Yoji Totsuka of Tokyo speaking on baryon number nonjjonservation and 'related topics'. The unstable proton is a vital test of grand unified pictures pulling together the electroweak and quark/gluon forces in a single field theory.

Hawking radiation of black rings from anomalies

International Nuclear Information System (INIS)

Chen Bin; He Wei

2008-01-01

We derive Hawking radiation of five-dimensional black rings from gauge and gravitational anomalies using the method proposed by Robinson and Wilczek. We find, as in the black hole case, that the problem could reduce to a (1+1)-dimensional field theory and the anomalies result in correct Hawking temperature for neutral, dipole and charged black rings

Heat kernel for Newton-Cartan trace anomalies

Energy Technology Data Exchange (ETDEWEB)

Auzzi, Roberto [Dipartimento di Matematica e Fisica, Università Cattolica del Sacro Cuore, Via Musei 41, Brescia, 25121 (Italy); INFN Sezione di Perugia, Via A. Pascoli, Perugia, 06123 (Italy); Nardelli, Giuseppe [Dipartimento di Matematica e Fisica, Università Cattolica del Sacro Cuore, Via Musei 41, Brescia, 25121 (Italy); TIFPA - INFN, Università di Trento,c/o Dipartimento di Fisica, Povo, TN, 38123 (Italy)

2016-07-11

We compute the leading part of the trace anomaly for a free non-relativistic scalar in 2+1 dimensions coupled to a background Newton-Cartan metric. The anomaly is proportional to 1/m, where m is the mass of the scalar. We comment on the implications of a conjectured a-theorem for non-relativistic theories with boost invariance.

Analysis on Space Environment from the Anomalies of Geosynchronous Satellites

Directory of Open Access Journals (Sweden)

Jaejin Lee

2009-12-01

Full Text Available While it is well known that space environment can produce spacecraft anomaly, defining space environment effects for each anomalies is difficult. This is caused by the fact that spacecraft anomaly shows various symptoms and reproducing it is impossible. In this study, we try to find the conditions of when spacecraft failures happen more frequently and give satellite operators useful information. Especially, our study focuses on the geosynchronous satellites which cost is high and required high reliability. We used satellite anomaly data given by Satellite News Digest which is internet newspaper providing space industry news. In our analysis, 88 anomaly cases occurred from 1997 to 2008 shows bad corelation with Kp index. Satellite malfunctions were likely to happen in spring and fall and in local time from midnight to dawn. In addition, we found the probability of anomaly increase when high energy electron flux is high. This is more clearly appeared in solar minimum than maximum period.

The effect of scale on the interpretation of geochemical anomalies

Science.gov (United States)

Theobald, P.K.; Eppinger, R.G.; Turner, R.L.; Shiquan, S.

1991-01-01

The purpose of geochemical surveys changes with scale. Regional surveys identify areas where mineral deposits are most likely to occur, whereas intermediate surveys identify and prioritize specific targets. At detailed scales specific deposit models may be applied and deposits delineated. The interpretation of regional geochemical surveys must take into account scale-dependent difference in the nature and objectives of this type of survey. Overinterpretation of regional data should be resisted, as should recommendations to restrict intermediate or detailed follow-up surveys to the search for specific deposit types or to a too limited suite of elements. Regional surveys identify metallogenic provinces within which a variety of deposit types and metals are most likely to be found. At intermediate scale, these regional provinces often dissipate into discrete clusters of anomalous areas. At detailed scale, individual anomalous areas reflect local conditions of mineralization and may seem unrelated to each other. Four examples from arid environments illustrate the dramatic change in patterns of anomalies between regional and more detailed surveys. On the Arabian Shield, a broad regional anomaly reflects the distribution of highly differentiated anorogenic granites. A particularly prominent part of the regional anomaly includes, in addition to the usual elements related to the granites, the assemblage of Mo, W and Sn. Initial interpretation suggested potential for granite-related, stockwork Mo deposits. Detailed work identified three separate sources for the anomaly: a metal-rich granite, a silicified and stockwork-veined area with scheelite and molybdenite, and scheelite/powellite concentrations in skarn deposits adjacent to a ring-dike complex. Regional geochemical, geophysical and remote-sensing data in the Sonoran Desert, Mexico, define a series of linear features interpreted to reflect fundamental, northeast-trending fractures in the crust that served as the prime

Anomaly detection through information sharing under different topologies

NARCIS (Netherlands)

Gallos, Lazaros K.; Korczynski, M.T.; Fefferman, Nina H.

2017-01-01

Early detection of traffic anomalies in networks increases the probability of effective intervention/mitigation actions, thereby improving the stability of system function. Centralized methods of anomaly detection are subject to inherent constraints: (1) they create a communication burden on the

Common dental anomalies in cleft lip and palate patients.

Science.gov (United States)

Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

Signal anomaly detection using modified CUSUM [cumulative sum] method

International Nuclear Information System (INIS)

Morgenstern, V.; Upadhyaya, B.R.; Benedetti, M.

1988-01-01

An important aspect of detection of anomalies in signals is the identification of changes in signal behavior caused by noise, jumps, changes in band-width, sudden pulses and signal bias. A methodology is developed to identify, isolate and characterize these anomalies using a modification of the cumulative sum (CUSUM) approach. The new algorithm performs anomaly detection at three levels and is implemented on a general purpose computer. 7 refs., 4 figs

Broader than Broadway. Le anomalie dentro la griglia / Broader than Broadway. The anomalies within the grid

Directory of Open Access Journals (Sweden)

Job Floris

2015-01-01

Full Text Available La tipologia di edifici poco profondi e cuneiformi è emersa come conseguenza dell’incontro di un piano urbano inserito in un tessuto urbano esistente. Questo fenomeno compare in diverse città come New York o Parigi. Generalmente, queste anomalie non fanno parte della strategia urbana in modo conscio, ma sono eccezioni e difetti nella logica della pianificazione. Nonostante ciò sono la causa di momenti urbani affascinanti, nei quali l’unione tra urbanistica e architettura sembra dare del suo meglio. Queste anomalie si possono percepire sia come insoliti oggetti, sia come obbedienza al piano urbanistico. Seguendo le regole di quest'ultimo su tutta la linea, sorgono edifici grande importanza perche' pezzi indispensabili in grado di rafforzare la trama urbana. / The typology of thin, shallow and wedge-shaped buildings emerged as a consequence of the meeting of an implemented urban plan into an existing city-fabric. This phenomenon appears in several cities throughout the world such as New York or Paris. In general, these anomalies are not consciously part of the urban strategy, but exceptions and flaws in the logic of their urban plan. Nevertheless causing fascinating urban moments, where the merge of urbanism and architecture might be at its best. These anomalies can be perceived both as a strange object and the ultimate obedience to the urban plan. By following the rules of urbanism all the way, buildings with exotic proportions arise, of big importance since these indispensable pieces are enforcing the urban pattern.

Case report: a branchial cleft anomaly presenting as an oropharyngeal mass.

Science.gov (United States)

Mullin, David; Merz, Meredith

2011-12-01

Branchial anomalies are common cervical pathologic entities encountered in the field of otolaryngology and are typical in the pediatric and young adult populations. In most cases, these anomalies present as a cyst, sinus, or fistula in a rather stereotypical fashion. When a branchial anomaly deviates from the classic presentation, an improper diagnosis and inadequate management are more likely to occur, leading to an increased recurrence rate. We present a case of a 6-year-old girl with an incidental finding of a right posterior oropharyngeal wall mass, distinctly separate from the tonsillar fossa, which was found on pathologic analysis to be a branchial cleft anomaly. The theories regarding the pathogenesis of branchial anomalies are presented, along with other cases of atypical branchial anomalies.

Surgical management of complete penile duplication accompanied by multiple anomalies.

Science.gov (United States)

Karaca, Irfan; Turk, Erdal; Ucan, A Basak; Yayla, Derya; Itirli, Gulcin; Ercal, Derya

2014-09-01

Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypo-gastric omphalocele and extrophic rectal duplication.

Anomaly Busters II

International Nuclear Information System (INIS)

Anon.

1985-01-01

The anomaly busters had struck on the first day of the Kyoto meeting with Yoji Totsuka of Tokyo speaking on baryon number nonjjonservation and 'related topics'. The unstable proton is a vital test of grand unified pictures pulling together the electroweak and quark/gluon forces in a single field theory

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

Science.gov (United States)

Suson, K D; Inouye, B; Carl, A; Gearhart, J P

2016-08-01

Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies. An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence. The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027). Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients

Population genetic structure of a centipede species with high levels of developmental instability.

Directory of Open Access Journals (Sweden)

Giuseppe Fusco

Full Text Available European populations of the geophilomorph centipede Haplophilus subterraneus show a high proportion of individuals with morphological anomalies, suggesting high levels of developmental instability. The broad geographic distribution of this phenomenon seems to exclude local environmental causes, but the source of instability is still to be identified. The goal of the present study was to collect quantitative data on the occurrence of phenodeviants in different populations, along with data on the patterns of genetic variation within and between populations, in order to investigate possible association between developmental instability and genetic features. In a sample of 11 populations of H. subterraneus, distributed in western and central Europe, we looked for phenodeviants, in particular with respect to trunk morphology, and studied genetic variation through the genotyping of microsatellite loci. Overall, no support was found to the idea that developmental instability in H. subterraneus is related to a specific patterns of genetic variation, including inbreeding estimates. We identified a major genetic partition that subdivides French populations from the others, and a low divergence among northwestern areas, which are possibly related to the post-glacial recolonization from southern refugia and/or to recent anthropogenic soil displacements. A weak correlation between individual number of leg bearing segments and the occurrence of trunk anomalies seems to support a trade-off between these two developmental traits. These results, complemented by preliminary data on developmental stability in two related species, suggest that the phenomenon has not a simple taxonomic distribution, while it exhibits an apparent localization in central and eastern Europe.

Pre-seismic anomalies from optical satellite observations: a review

Science.gov (United States)

Jiao, Zhong-Hu; Zhao, Jing; Shan, Xinjian

2018-04-01

Detecting various anomalies using optical satellite data prior to strong earthquakes is key to understanding and forecasting earthquake activities because of its recognition of thermal-radiation-related phenomena in seismic preparation phases. Data from satellite observations serve as a powerful tool in monitoring earthquake preparation areas at a global scale and in a nearly real-time manner. Over the past several decades, many new different data sources have been utilized in this field, and progressive anomaly detection approaches have been developed. This paper reviews the progress and development of pre-seismic anomaly detection technology in this decade. First, precursor parameters, including parameters from the top of the atmosphere, in the atmosphere, and on the Earth's surface, are stated and discussed. Second, different anomaly detection methods, which are used to extract anomalous signals that probably indicate future seismic events, are presented. Finally, certain critical problems with the current research are highlighted, and new developing trends and perspectives for future work are discussed. The development of Earth observation satellites and anomaly detection algorithms can enrich available information sources, provide advanced tools for multilevel earthquake monitoring, and improve short- and medium-term forecasting, which play a large and growing role in pre-seismic anomaly detection research.

Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

Science.gov (United States)

Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik

2013-05-01

The transcription factor SOX3 is widely expressed in early vertebrate brain development. In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism. Sox3 knock-out mice show a variable phenotype including structural and functional anomalies affecting the branchial arches and midline cerebral structures such as the optic chiasm and the hypothalamo-pituitary axis. SOX3 is claimed to be required in normal brain development and function in mice and humans, as well as in pituitary and craniofacial development. We report on an 8-year-old boy with a 2.1 Mb deletion in Xq27.1q27.2, which was found to be inherited from his healthy mother. To our knowledge, this is the smallest deletion including the entire SOX3 gene in a male reported to date. He is mildly intellectually disabled with language delay, dysarthria, behavior problems, minor facial anomalies, and hyperphagia. Hormone levels including growth, adrenocorticotropic and thyroid stimulating hormones are normal. Magnetic resonance imaging (MRI) at age 6 years showed no obvious brain anomalies. Genetic redundancy between the three members of the B1 subfamily of SOX proteins during early human brain development likely explains the apparently normal development of brain structures in our patient who is nullisomic for SOX3. Copyright © 2012 Wiley Periodicals, Inc.

First branchial cleft anomalies: avoiding the misdiagnosis.

Science.gov (United States)

Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

2013-07-01

First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

Evaluation of fetal anomalies with MR imaging

International Nuclear Information System (INIS)

Benson, R.C.; Platt, L.D.; Colletti, P.M.; Raval, J.K.; Boswell, W.D. Jr.; Halls, J.M.

1987-01-01

Twenty pregnant women underwent MR imaging (0.5 T) after US disclosed a significant fetal anomaly. The ability of MR imaging to depict the abnormalities was assessed. Of 20 abnormalities, 17 were visualized with MR imaging. Abnormalities included conjoined twins, omphalocele, gastroschisis, hydrocephalus, hydronephrosis, fetal ascites, facial teratoma, anencephaly, bladder outlet obstruction, thanatophoric dwarfism, cystic, hygroma, and fetal ovarian cyst. Thirteen of 14 abnormalities in third-trimester fetuses were visualized, as were four of six abnormalities in second-trimester fetuses. Associated polyhydramnios or oligohydramnios was evident in six of six cases. Anomalies were best delineated with T1-weighted sequences. The study suggests that MR imaging is potentially useful as a complementary imaging modality in the evaluation of fetal anomalies

X-ray diagnosis in temporal bone anomalies

International Nuclear Information System (INIS)

Schratter, M.; Canigiani, G.; Swoboda, H.; Brunner, E.

1988-01-01

The X-ray findings in temporal bone anomalies are reviewed. Radiological procedure and examination technique are presented, as are symptoms of important anomalies. The methods available are plain film X-ray of temporal bone, multi-directional tomography, and high-resolution CT. Although some of the abnormalities are visible even in plain films, consistent use of conventional tomography or CT is necessary for correct diagnosis. This procedure is indicated not only when an abnormality is clinically obvious, but also in all cases of unexplained hearing loss without evidence of acquired disease. The advantage of CT over conventional tomography is that soft tissue anomalies, such as primary cholesteatoma or tumor simulating vascular abnormalities, can be demonstrated. In these cases CT is obligatory. (orig.) [de

Two-dimensional Lorentz-Weyl anomaly and gravitational Chern-Simons theory

International Nuclear Information System (INIS)

Chamseddine, A.H.; Froehlich, J.

1992-01-01

Two-dimensional chiral fermions and bosons, more generally conformal blocks of two-dimensional conformal field theories, exhibit Weyl-, Lorentz- and mixed Lorentz-Weyl anomalies. A novel way of computing these anomalies for a system of chiral bosons of arbitrary conformal spin j is sketched. It is shown that the Lorentz- and mixed Lorentz-Weyl anomalies of these theories can be cancelled by the anomalies of a three-dimensional classical Chern-Simons action for the spin connection, expressed in terms of the dreibein field. Some tentative applications of this result to string theory are indicated. (orig.)

On Certain Conceptual Anomalies in Einstein's Theory of Relativity

OpenAIRE

Crothers S. J.

2008-01-01

There are a number of conceptual anomalies occurring in the Standard exposition of Einstein’s Theory of Relativity. These anomalies relate to issues in both mathematics and in physics and penetrate to the very heart of Einstein’s theory. This paper reveals and amplifies a few such anomalies, including the fact that Einstein’s field equations for the so-called static vacuum configuration, R = 0 , violates his Principle of Equiv- alence, and is therefore ...

Gauge Anomalies and Neutrino Seesaw Models

CERN Document Server

Neves Cebola, Luis Manuel

Despite the success of the Standard Model concerning theoretical predictions, there are several experimental results that cannot be explained and there are reasons to believe that there exists new physics beyond it. Neutrino oscillations, and hence their masses, are examples of this. Experimentally it is known that neutrinos masses are quite small, when compared to all Standard Model particle masses. Among the theoretical possibilities to explain these tiny masses, the seesaw mechanism is a simple and well-motivated framework. In its minimal version, heavy particles are introduced that decouple from the theory in the early universe. To build consistent theories, classical symmetries need to be preserved at quantum level, so that there are no anomalies. The cancellation of these anomalies leads to constraints in the parameters of the theory. One attractive solution is to realize the anomaly cancellation through the modication of the gauge symmetry. In this thesis we present a short review of some features of t...

Clinical evaluation of nonsyndromic dental anomalies in Dravidian population: A cluster sample analysis.

Science.gov (United States)

Yamunadevi, Andamuthu; Selvamani, M; Vinitha, V; Srivandhana, R; Balakrithiga, M; Prabhu, S; Ganapathy, N

2015-08-01

To record the prevalence rate of dental anomalies in Dravidian population and analyze the percentage of individual anomalies in the population. A cluster sample analysis was done, where 244 subjects studying in a dental institution were all included and analyzed for occurrence of dental anomalies by clinical examination, excluding third molars from analysis. 31.55% of the study subjects had dental anomalies and shape anomalies were more prevalent (22.1%), followed by size (8.6%), number (3.2%) and position anomalies (0.4%). Retained deciduous was seen in 1.63%. Among the individual anomalies, Talon's cusp (TC) was seen predominantly (14.34%), followed by microdontia (6.6%) and supernumerary cusps (5.73%). Prevalence rate of dental anomalies in the Dravidian population is 31.55% in the present study, exclusive of third molars. Shape anomalies are more common, and TC is the most commonly noted anomaly. Varying prevalence rate is reported in different geographical regions of the world.

Bicornuate-Septate Uterus: A New Congenital Uterine Anomaly

Directory of Open Access Journals (Sweden)

Babak Dabir-Ashrafi

2008-08-01

Full Text Available Bicornuate uterus is class IV and septate uterus is class Vin uterine anomaly classification.Bicornuate uterus is almost always treated by laparotomy and metroplasty. But the treatment of choice for septate uterus is hysteroscopic metroplasty. Bicornuate- septate uterus which is described in this paper is a new class of uterine anomaly(between class IV & V. The advantages of hysteroscopic metroplasty to laparotomy and metroplasty have been proven previously.It is important to know if the uterine anomaly is pure bicornuate or bicornuate-septate. In the latter case, we suggest the first line of operation should be hysteroscopic metroplasty.

Chiral anomaly, fermionic determinant and two dimensional models

International Nuclear Information System (INIS)

Rego Monteiro, M.A. do.

1985-01-01

The chiral anomaly in random pair dimension is analysed. This anomaly is perturbatively calculated by dimensional regularization method. A new method for non-perturbative Jacobian calculation of a general chiral transformation, 1.e., finite and non-Abelian, is developed. This method is used for non-perturbative chiral anomaly calculation, as an alternative to bosonization of two-dimensional theories for massless fermions and to study the phenomenum of fermion number fractionalization. The fermionic determinant from two-dimensional quantum chromodynamics is also studied, and calculated, exactly, as in decoupling gauge as with out reference to a particular gauge. (M.C.K.) [pt

An incremental anomaly detection model for virtual machines.

Directory of Open Access Journals (Sweden)

Hancui Zhang

Full Text Available Self-Organizing Map (SOM algorithm as an unsupervised learning method has been applied in anomaly detection due to its capabilities of self-organizing and automatic anomaly prediction. However, because of the algorithm is initialized in random, it takes a long time to train a detection model. Besides, the Cloud platforms with large scale virtual machines are prone to performance anomalies due to their high dynamic and resource sharing characters, which makes the algorithm present a low accuracy and a low scalability. To address these problems, an Improved Incremental Self-Organizing Map (IISOM model is proposed for anomaly detection of virtual machines. In this model, a heuristic-based initialization algorithm and a Weighted Euclidean Distance (WED algorithm are introduced into SOM to speed up the training process and improve model quality. Meanwhile, a neighborhood-based searching algorithm is presented to accelerate the detection time by taking into account the large scale and high dynamic features of virtual machines on cloud platform. To demonstrate the effectiveness, experiments on a common benchmark KDD Cup dataset and a real dataset have been performed. Results suggest that IISOM has advantages in accuracy and convergence velocity of anomaly detection for virtual machines on cloud platform.

An incremental anomaly detection model for virtual machines

Science.gov (United States)

Zhang, Hancui; Chen, Shuyu; Liu, Jun; Zhou, Zhen; Wu, Tianshu

2017-01-01

Self-Organizing Map (SOM) algorithm as an unsupervised learning method has been applied in anomaly detection due to its capabilities of self-organizing and automatic anomaly prediction. However, because of the algorithm is initialized in random, it takes a long time to train a detection model. Besides, the Cloud platforms with large scale virtual machines are prone to performance anomalies due to their high dynamic and resource sharing characters, which makes the algorithm present a low accuracy and a low scalability. To address these problems, an Improved Incremental Self-Organizing Map (IISOM) model is proposed for anomaly detection of virtual machines. In this model, a heuristic-based initialization algorithm and a Weighted Euclidean Distance (WED) algorithm are introduced into SOM to speed up the training process and improve model quality. Meanwhile, a neighborhood-based searching algorithm is presented to accelerate the detection time by taking into account the large scale and high dynamic features of virtual machines on cloud platform. To demonstrate the effectiveness, experiments on a common benchmark KDD Cup dataset and a real dataset have been performed. Results suggest that IISOM has advantages in accuracy and convergence velocity of anomaly detection for virtual machines on cloud platform. PMID:29117245

A New Anomaly Detection System for School Electricity Consumption Data

Directory of Open Access Journals (Sweden)

Wenqiang Cui

2017-11-01

Full Text Available Anomaly detection has been widely used in a variety of research and application domains, such as network intrusion detection, insurance/credit card fraud detection, health-care informatics, industrial damage detection, image processing and novel topic detection in text mining. In this paper, we focus on remote facilities management that identifies anomalous events in buildings by detecting anomalies in building electricity consumption data. We investigated five models within electricity consumption data from different schools to detect anomalies in the data. Furthermore, we proposed a hybrid model that combines polynomial regression and Gaussian distribution, which detects anomalies in the data with 0 false negative and an average precision higher than 91%. Based on the proposed model, we developed a data detection and visualization system for a facilities management company to detect and visualize anomalies in school electricity consumption data. The system is tested and evaluated by facilities managers. According to the evaluation, our system has improved the efficiency of facilities managers to identify anomalies in the data.

Dental anomalies associated with buccally- and palatally-impacted maxillary canines.

Science.gov (United States)

Sajnani, Anand K; King, Nigel M

2014-08-01

The aim of the present study was to determine the association of both buccally- and palatally-impacted canines with other dental anomalies. This retrospective study was conducted on a population of 533 southern Chinese children and adolescents who had impacted maxillary canines that had been treated in the Paediatric Dentistry and Orthodontics Clinic, Prince Philip Dental Hospital, The University of Hong Kong, Hong Kong. Descriptions of the impacted canine and other associated anomalies were obtained from the case notes and radiographs. Clinical photographs and study casts were used, where available. A total of 253 (47.5%) patients with impacted maxillary canines were diagnosed with other dental anomalies. Microdontia was the most frequently-occurring anomaly reported in these patients, with the maxillary lateral incisor the most commonly affected tooth. Other odontogenic anomalies that were associated with both buccally- and palatally-impacted canines included hypodontia, supernumerary teeth, transposition of other teeth, enamel hypoplasia, other impacted teeth, and dens invaginatus. Both buccally- and palatally-impacted canines were found to be associated with other odontogenic anomalies. © 2013 Wiley Publishing Asia Pty Ltd.

Maternal age-specific risk of non-chromosomal anomalies

DEFF Research Database (Denmark)

Loane, M; Dolk, H; Morris, J K

2009-01-01

OBJECTIVES: To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. DESIGN AND SETTING: Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.7...

Hyperspectral anomaly detection using Sony PlayStation 3

Science.gov (United States)

Rosario, Dalton; Romano, João; Sepulveda, Rene

2009-05-01

We present a proof-of-principle demonstration using Sony's IBM Cell processor-based PlayStation 3 (PS3) to run-in near real-time-a hyperspectral anomaly detection algorithm (HADA) on real hyperspectral (HS) long-wave infrared imagery. The PS3 console proved to be ideal for doing precisely the kind of heavy computational lifting HS based algorithms require, and the fact that it is a relatively open platform makes programming scientific applications feasible. The PS3 HADA is a unique parallel-random sampling based anomaly detection approach that does not require prior spectra of the clutter background. The PS3 HADA is designed to handle known underlying difficulties (e.g., target shape/scale uncertainties) often ignored in the development of autonomous anomaly detection algorithms. The effort is part of an ongoing cooperative contribution between the Army Research Laboratory and the Army's Armament, Research, Development and Engineering Center, which aims at demonstrating performance of innovative algorithmic approaches for applications requiring autonomous anomaly detection using passive sensors.

Congenital anomalies of the spine and spinal cord

International Nuclear Information System (INIS)

Altman, N.R.; McLone, D.G.; Naidich, T.P.; Zimmerman, R.A.; Raybaud, C.A.

1991-01-01

In the spine, the most common congenital lesions presenting to medical attention are the diverse forms of spinal dysraphism and the diverse forms of caudal spinal anomalies. Most commonly, these conditions are discovered at birth or in early childhood. Less commonly, they first present to medical attention in adulthood. Widespread use of magnetic resonance imaging (MRI) is expected to reduce the incidence of delayed diagnosis of the dysraphisms and the other spinal malformations. This paper addresses the most common forms of dysraphism and the most common caudal spinal anomalies. It provides an overview of embryology for orientation and then groups the anomalies in terms of the specific derangements of embryology that are believed to give rise to the anomalies. It is hoped that this approach will provide greater understanding of these lesions and better long-term retention of information about them. A conceptual framework of embryology and pathogenesis may eliminate the need for rote memorization; certainly it is a more satisfying approach intellectually

A Survey on Anomaly Based Host Intrusion Detection System

Science.gov (United States)

Jose, Shijoe; Malathi, D.; Reddy, Bharath; Jayaseeli, Dorathi

2018-04-01

An intrusion detection system (IDS) is hardware, software or a combination of two, for monitoring network or system activities to detect malicious signs. In computer security, designing a robust intrusion detection system is one of the most fundamental and important problems. The primary function of system is detecting intrusion and gives alerts when user tries to intrusion on timely manner. In these techniques when IDS find out intrusion it will send alert massage to the system administrator. Anomaly detection is an important problem that has been researched within diverse research areas and application domains. This survey tries to provide a structured and comprehensive overview of the research on anomaly detection. From the existing anomaly detection techniques, each technique has relative strengths and weaknesses. The current state of the experiment practice in the field of anomaly-based intrusion detection is reviewed and survey recent studies in this. This survey provides a study of existing anomaly detection techniques, and how the techniques used in one area can be applied in another application domain.

Amalgamation of Anomaly-Detection Indices for Enhanced Process Monitoring

KAUST Repository

Harrou, Fouzi

2016-01-29

Accurate and effective anomaly detection and diagnosis of modern industrial systems are crucial for ensuring reliability and safety and for maintaining desired product quality. Anomaly detection based on principal component analysis (PCA) has been studied intensively and largely applied to multivariate processes with highly cross-correlated process variables; howver conventional PCA-based methods often fail to detect small or moderate anomalies. In this paper, the proposed approach integrates two popular process-monitoring detection tools, the conventional PCA-based monitoring indices Hotelling’s T2 and Q and the exponentially weighted moving average (EWMA). We develop two EWMA tools based on the Q and T2 statistics, T2-EWMA and Q-EWMA, to detect anomalies in the process mean. The performances of the proposed methods were compared with that of conventional PCA-based anomaly-detection methods by applying each method to two examples: a synthetic data set and experimental data collected from a flow heating system. The results clearly show the benefits and effectiveness of the proposed methods over conventional PCA-based methods.

Detection of data taking anomalies for the ATLAS experiment

CERN Document Server

De Castro Vargas Fernandes, Julio; The ATLAS collaboration; Lehmann Miotto, Giovanna

2015-01-01

The physics signals produced by the ATLAS detector at the Large Hadron Collider (LHC) at CERN are acquired and selected by a distributed Trigger and Data AcQuistition (TDAQ) system, comprising a large number of hardware devices and software components. In this work, we focus on the problem of online detection of anomalies along the data taking period. Anomalies, in this context, are defined as an unexpected behaviour of the TDAQ system that result in a loss of data taking efficiency: the causes for those anomalies may come from the TDAQ itself or from external sources. While the TDAQ system operates, it publishes several useful information (trigger rates, dead times, memory usage…). Such information over time creates a set of time series that can be monitored in order to detect (and react to) problems (or anomalies). Here, we approach TDAQ operation monitoring through a data quality perspective, i.e, an anomaly is seen as a loss of quality (an outlier) and it is reported: this information can be used to rea...

Prevalence and distribution of selected dental anomalies among saudi children in Abha, Saudi Arabia.

Science.gov (United States)

Yassin, Syed M

2016-12-01

Dental anomalies are not an unusual finding in routine dental examination. The effect of dental anomalies can lead to functional, esthetic and occlusal problems. The Purpose of the study was to determine the prevalence and distribution of selected developmental dental anomalies in Saudi children. The study was based on clinical examination and Panoramic radiographs of children who visited the Pediatric dentistry clinics at King Khalid University College of Dentistry, Saudi Arabia. These patients were examined for dental anomalies in size, shape, number, structure and position. Data collected were entered and analyzed using statistical package for social sciences version. Of the 1252 children (638 Boys, 614 girls) examined, 318 subjects (25.39%) presented with selected dental anomalies. The distribution by gender was 175 boys (27.42%) and 143 girls (23.28%). On intergroup comparison, number anomalies was the most common anomaly with Hypodontia (9.7%) being the most common anomaly in Saudi children, followed by hyperdontia (3.5%). The Prevalence of size anomalies were Microdontia (2.6%) and Macrodontia (1.8%). The prevalence of Shape anomalies were Talon cusp (1.4%), Taurodontism (1.4%), Fusion (0.8%).The prevalence of Positional anomalies were Ectopic eruption (2.3%) and Rotation (0.4%). The prevalence of structural anomalies were Amelogenesis imperfecta (0.3%) Dentinogenesis imperfecta (0.1%). A significant number of children had dental anomaly with Hypodontia being the most common anomaly and Dentinogenesis imperfecta being the rare anomaly in the study. Early detection and management of these anomalies can avoid potential orthodontic and esthetic problems in a child. Key words: Dental anomalies, children, Saudi Arabia.

SOX2 anophthalmia syndrome and dental anomalies.

Science.gov (United States)

Chacon-Camacho, Oscar Francisco; Fuerte-Flores, Bertha Irene; Ricardez-Marcial, Edgar F; Zenteno, Juan Carlos

2015-11-01

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations. © 2015 Wiley Periodicals, Inc.

Maternal age-specific risk of non-chromosomal anomalies

NARCIS (Netherlands)

Loane, M.; Dolk, H.; Morris, Joan K.

To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004.

Fetal central nervous system anomalies: fast MRI vs ultrasonography

International Nuclear Information System (INIS)

Yang Wenzhong; Xia Liming; Yang Minjie; Feng Dingyi; Hu Junwu; Zou Mingli; Wang Chengyuan; Chen Xinlin; Yang Xiaohong

2006-01-01

Objective: To evaluate the ability of fast MRI to detect fetal central nervous system (CNS) anomalies and to compare its performance with that of prenatal ultrasonography (US). Methods Forty-eight pregnant women were detected by conventional prenatal US and MRI. Twenty-two fetuses with CNS anomalies were conformed by autopsy and follow-up. The MR and US appearances of fetal CNS structure were compared to each other and to that of autopsy. Results: A total of 26 CNS anomalies were identified by autopsy (n=17) and follow-up (n=9) including anencephaly (n=6), rachischisis (n=2), encephalocele (n=3), congenital hydrocephalus (n=7), alobar holoprosencephaly (n=1), porencephalia (n=3), arachnoid cyst (n=2) and choroids plexus cyst (n=2). US diagnosed 24 CNS anomalies, the correct diagnostic rate was 92.3%, the false-positive rate was 3.8%, the missed-diagnostic rate was 3.8%. MRI diagnosed 23 CNS anomalies, the correct-diagnostic rate was 88.5%, the false-positive rate was 3.8% ,the missed-diagnostic rate was 7.7%. There was no difference between US and MRI (P>0.05), but MRI have larger FOV, higher tissues resolution, and can demonstrate gray-white matter in detail. Conclusions: MR imaging has a similar sensitivity to that of US in the detection of fetal CNS anomalies. (authors)

Inference of Altimeter Accuracy on Along-track Gravity Anomaly Recovery

Directory of Open Access Journals (Sweden)

LI Yang

2015-04-01

Full Text Available A correlation model between along-track gravity anomaly accuracy, spatial resolution and altimeter accuracy is proposed. This new model is based on along-track gravity anomaly recovery and resolution estimation. Firstly, an error propagation formula of along-track gravity anomaly is derived from the principle of satellite altimetry. Then the mathematics between the SNR (signal to noise ratio and cross spectral coherence is deduced. The analytical correlation between altimeter accuracy and spatial resolution is finally obtained from the results above. Numerical simulation results show that along-track gravity anomaly accuracy is proportional to altimeter accuracy, while spatial resolution has a power relation with altimeter accuracy. e.g., with altimeter accuracy improving m times, gravity anomaly accuracy improves m times while spatial resolution improves m0.4644 times. This model is verified by real-world data.

Anomalies of Nuclear Criticality, Revision 6

International Nuclear Information System (INIS)

Clayton, E.D.; Prichard, Andrew W.; Durst, Bonita E.; Erickson, David; Puigh, Raymond J.

2010-01-01

This report is revision 6 of the Anomalies of Nuclear Criticality. This report is required reading for the training of criticality professionals in many organizations both nationally and internationally. This report describes many different classes of nuclear criticality anomalies that are different than expected. An anomaly is defined as something not in keeping with expected notions of fitness and order, a departure from the regular arrangement or general rule. In reviewing the literature and experimental data on nuclear criticality and the conditions under which a fission chain reaction can be achieved, a number of anomalies have come to light. The actinide group is composed of the fourteen elements beginning with thorium, Atomic No. 90, and ending with lawrencium, Atomic No. 103. There are about 220 known actinide isotopes, most of which are believed capable of supporting neutron chain reactions. Although every element in the actinide group has at least one isotope believed capable of supporting a chain reaction, from a practical point of view regarding the time for chemical processing, only those nuclides with half-lives more than several weeks are of obvious concern in criticality safety. Forty-six of the nuclides are known to have half-lives greater than six weeks. The selection of six weeks is somewhat arbitrary. There may well be shorter-lived nuclides of concern in criticality safety. These 46 nuclides are identified in Figure 44. Of the 46 nuclides, 4 are known and 37 are believed to be capable of supporting chain reactions, and 5 are known or believed to not support a chain reaction. Figure 44 was constructed in the format used for the Chart of the Nuclides.(1) Figure 44 also shows the distinction between fissile and fissible nuclides. The actinides derive their name from actinium (Atomic No. 89) because they tend to maintain an actinium-like electron structure as the fourteen inner electrons are added to the 5f electron shell. Actually, electrons do

Fourth Branchial Anomaly Presenting with a Lateral Neck Mass in a Neonate

OpenAIRE

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

Fourth branchial anomaly presenting with a lateral neck mass in a neonate.

Science.gov (United States)

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

Congenital anomalies of the neonatal head

International Nuclear Information System (INIS)

Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

1987-01-01

US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

Long-term sedimentary recycling of rare sulphur isotope anomalies.

Science.gov (United States)

Reinhard, Christopher T; Planavsky, Noah J; Lyons, Timothy W

2013-05-02

The accumulation of substantial quantities of O2 in the atmosphere has come to control the chemistry and ecological structure of Earth's surface. Non-mass-dependent (NMD) sulphur isotope anomalies in the rock record are the central tool used to reconstruct the redox history of the early atmosphere. The generation and initial delivery of these anomalies to marine sediments requires low partial pressures of atmospheric O2 (p(O2); refs 2, 3), and the disappearance of NMD anomalies from the rock record 2.32 billion years ago is thought to have signalled a departure from persistently low atmospheric oxygen levels (less than about 10(-5) times the present atmospheric level) during approximately the first two billion years of Earth's history. Here we present a model study designed to describe the long-term surface recycling of crustal NMD anomalies, and show that the record of this geochemical signal is likely to display a 'crustal memory effect' following increases in atmospheric p(O2) above this threshold. Once NMD anomalies have been buried in the upper crust they are extremely resistant to removal, and can be erased only through successive cycles of weathering, dilution and burial on an oxygenated Earth surface. This recycling results in the residual incorporation of NMD anomalies into the sedimentary record long after synchronous atmospheric generation of the isotopic signal has ceased, with dynamic and measurable signals probably surviving for as long as 10-100 million years subsequent to an increase in atmospheric p(O2) to more than 10(-5) times the present atmospheric level. Our results can reconcile geochemical evidence for oxygen production and transient accumulation with the maintenance of NMD anomalies on the early Earth, and suggest that future work should investigate the notion that temporally continuous generation of new NMD sulphur isotope anomalies in the atmosphere was likely to have ceased long before their ultimate disappearance from the rock record.

Dental anomalies in Didelphis albiventris (Mammalia, Marsupialia, Didelphidae from Argentina, Brazil and Uruguay

Directory of Open Access Journals (Sweden)

M. Amelia Chemisquy

Full Text Available ABSTRACT Dental anomalies have been investigated and reported for most orders of mammals, including marsupials. Previous works in Didelphis albiventris Lund, 1840 only described one kind of malformation or just a few observations from some collections, thus the type and presence of anomalies for this species was underestimated. The aim of this contribution is to describe and analyze several dental anomalies found in specimens of Didelphis albiventris from Argentina, Uruguay and Brazil. Dental anomalies were classified in three categories: supernumerary or missing teeth, morphological anomalies in size and shape, and teeth in unusual positions. We found 32 individuals of D. albiventris with anomalies out of 393 analyzed specimens (8.14%, some specimens with more than one anomaly. A similar proportion of specimens from Argentina and Uruguay presented anomalies, while in specimens from Brazil anomalies were less common. Anomalies were more commonly found in the upper toothrow and in molars, being supernumerary teeth and molars with unusual crown-shape the most common ones. The percentage of specimens with anomalies found for D. albiventris is higher than previously reported for the species, and other Didelphimorphia. Inbreeding and limited gene flow do not appear as possible explanations for the elevated percentage of anomalies, especially due to the ecological characteristics of Didelphis albiventris. Developmental instability and fluctuating asymmetry could be some of the causes for the anomalies found in this species, mostly since the habitat used by D. albiventris tends to be unstable and disturbed. Dental anomalies were mostly found in areas of the toothrow where occlusion is relaxed or does not prevent teeth from interlocking during mastication, and consequently have no functional value.

Limb anomalies in DiGeorge and CHARGE syndromes

Energy Technology Data Exchange (ETDEWEB)

Prasad, C.; Quackenbush, E.J.; Whiteman, D.; Korf, B. [Harvard Medical School, Boston, MA (United States)

1997-01-20

Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies. 14 refs., 4 figs.

A geometrical description of local and global anomalies

International Nuclear Information System (INIS)

Catenacci, R.; Pirola, G.P.

1990-01-01

The general topological framework for testing the possible occurrence of anomalies in gauge theories can be constructed in terms of the theory of group actions on line bundles through the introduction of a suitable group cohomology. In this Letter, we generalize this construction in such a way that it can be applied to a larger class of theories, allowing for a noncontractible configuration space and a nonconnected 'gauge' group. This construction find applications to the problem of the lifts of principal group actions. As a physical application, we compare the mechanisms of the anomalies cancelation in gauge and string theories, through a geometrical splitting of local and global anomalies. (orig.)

Amalgamation of Anomaly-Detection Indices for Enhanced Process Monitoring

KAUST Repository

Harrou, Fouzi; Sun, Ying; Khadraoui, Sofiane

2016-01-01

Accurate and effective anomaly detection and diagnosis of modern industrial systems are crucial for ensuring reliability and safety and for maintaining desired product quality. Anomaly detection based on principal component analysis (PCA) has been

Perturbative and global anomalies in supergravity theories

International Nuclear Information System (INIS)

Sezgin, E.

1986-09-01

Perturbative and global anomalies in supergravity theories are reviewed. The existence of a matter and gauge coupled supergravity theory in six dimensions with E 6 xE 7 xU(1) symmetry and highly nontrivial anomaly cancellations is emphasised. The possible string origin of this theory is posed as an open problem, study of which may lead to discovery of new ways to construct/compactify heterotic superstrings. (author)

Condition Parameter Modeling for Anomaly Detection in Wind Turbines

Directory of Open Access Journals (Sweden)

Yonglong Yan

2014-05-01

Full Text Available Data collected from the supervisory control and data acquisition (SCADA system, used widely in wind farms to obtain operational and condition information about wind turbines (WTs, is of important significance for anomaly detection in wind turbines. The paper presents a novel model for wind turbine anomaly detection mainly based on SCADA data and a back-propagation neural network (BPNN for automatic selection of the condition parameters. The SCADA data sets are determined through analysis of the cumulative probability distribution of wind speed and the relationship between output power and wind speed. The automatic BPNN-based parameter selection is for reduction of redundant parameters for anomaly detection in wind turbines. Through investigation of cases of WT faults, the validity of the automatic parameter selection-based model for WT anomaly detection is verified.

Vascular gastric anomalies as a cause of relapsing bleeding

Directory of Open Access Journals (Sweden)

Golubović Gradimir

2008-01-01

Full Text Available Background. Although relatively rare, gastric vascular anomalies can be recognized as a source of both chronic and acute blood loss, most often presenting as long term iron deficiency anemia, rarely as severe acute gastrointestinal bleeding. Case report. We present five patients with various gastric vascular anomalies, diagnosed during the year of 2003. in the Clinical Hospital Center Zemun. The diagnosis was based on endoscopic appearances, clinical history and characteristic histological findings. Gastric vascular anomalies presented in our review were: portal hypertensive gastropathy, gastric antral vascular ectasia, angiodysplasia, hereditary hemorrhagic telangiectasia and Dieulafoy lesion. The used treatment modalities included surgery and various endoscopic techniques (schlerotherapy, argon plasma coagulation. Conclusion. Patients presented with chronic iron deficiency anemia or acute and recurrent gastrointestinal hemorrhage should be considered as having one of gastric vascular anomalies.

Structural material anomaly detection system using water chemistry data

International Nuclear Information System (INIS)

Asakura, Yamato; Nagase, Makoto; Uchida, Shunsuke; Ohsumi, Katsumi.

1992-01-01

The concept of an advanced water chemistry diagnosis system for detection of anomalies and preventive maintenance of system components is proposed and put into a concrete form. Using the analogy to a medical inspection system, analyses of water chemistry change will make it possible to detect symptoms of anomalies in system components. Then, correlations between water chemistry change and anomaly occurrence in the components of the BWR primary cooling system are analyzed theoretically. These fragmentary correlations are organized and reduced to an algorithm for the on-line diagnosis system using on-line monitoring data, pH and conductivity. By using actual plant data, the on-line diagnosis model system is verified to be applicable for early and automatic finding of the anomaly cause and for timely supply of much diagnostic information to plant operators. (author)

Anomalies, conformal manifolds, and spheres

Energy Technology Data Exchange (ETDEWEB)

Gomis, Jaume [Perimeter Institute for Theoretical Physics,Waterloo, Ontario, N2L 2Y5 (Canada); Hsin, Po-Shen [Department of Physics, Princeton University,Princeton, NJ 08544 (United States); Komargodski, Zohar; Schwimmer, Adam [Weizmann Institute of Science,Rehovot 76100 (Israel); Seiberg, Nathan [School of Natural Sciences, Institute for Advanced Study,Princeton, NJ 08540 (United States); Theisen, Stefan [Max-Planck-Institut für Gravitationsphysik, Albert-Einstein-Institut,14476 Golm (Germany)

2016-03-04

The two-point function of exactly marginal operators leads to a universal contribution to the trace anomaly in even dimensions. We study aspects of this trace anomaly, emphasizing its interpretation as a sigma model, whose target space M is the space of conformal field theories (a.k.a. the conformal manifold). When the underlying quantum field theory is supersymmetric, this sigma model has to be appropriately supersymmetrized. As examples, we consider in some detail N=(2,2) and N=(0,2) supersymmetric theories in d=2 and N=2 supersymmetric theories in d=4. This reasoning leads to new information about the conformal manifolds of these theories, for example, we show that the manifold is Kähler-Hodge and we further argue that it has vanishing Kähler class. For N=(2,2) theories in d=2 and N=2 theories in d=4 we also show that the relation between the sphere partition function and the Kähler potential of M follows immediately from the appropriate sigma models that we construct. Along the way we find several examples of potential trace anomalies that obey the Wess-Zumino consistency conditions, but can be ruled out by a more detailed analysis.

Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients

International Nuclear Information System (INIS)

Sanderson, Evelyn; Newman, Vanessa; Haigh, Susan F.; Sidhu, Paul S.; Baker, Alastair

2002-01-01

Background: Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective: To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods: Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results: Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (P<0.0005). In the patients with Alagille syndrome, incomplete fusion of the anterior arch, most frequently at the D6-9 level, accounted for 123 of 126 anomalies. Multiple vertebral anomalies occurred in 48% of patients with Alagille syndrome (mean 2.5 anomalies). Vertebral anomalies were misreported in 54% of cases of Alagille syndrome. Conclusions: Vertebral anomalies are significantly more common in Alagille syndrome than in chronic cholestasis of other causes and are frequently overlooked. Reporting should be undertaken by a radiologist familiar with the appearance and location of these vertebral anomalies. (orig.)

Minnesota Bouguer Anomaly Grid

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — A 1.5 kilometer Bouguer anomaly grid for the state of Minnesota. Number of columns is 404 and number of rows is 463. The order of the data is from the lower left to...

Bolivian Bouguer Anomaly Grid

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — A 1 kilometer Bouguer anomaly grid for the country of Bolivia.Number of columns is 550 and number of rows is 900. The order of the data is from the lower left to the...

Chromosome abnormalities and the genetics of congenital corneal opacification.

Science.gov (United States)

Mataftsi, A; Islam, L; Kelberman, D; Sowden, J C; Nischal, K K

2011-01-01

Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.

Anomalies of the entanglement entropy in chiral theories

Energy Technology Data Exchange (ETDEWEB)

Iqbal, Nabil [Institute for Theoretical Physics, University of Amsterdam,Science Park 904, Postbus 94485, 1090 GL Amsterdam (Netherlands); Wall, Aron C. [School of Natural Sciences, Institute for Advanced Study,Princeton, New Jersey 08540 (United States)

2016-10-20

We study entanglement entropy in theories with gravitational or mixed U(1) gauge-gravitational anomalies in two, four and six dimensions. In such theories there is an anomaly in the entanglement entropy: it depends on the choice of reference frame in which the theory is regulated. We discuss subtleties regarding regulators and entanglement entropies in anomalous theories. We then study the entanglement entropy of free chiral fermions and self-dual bosons and show that in sufficiently symmetric situations this entanglement anomaly comes from an imbalance in the flux of modes flowing through the boundary, controlled by familiar index theorems. In two and four dimensions we use anomalous Ward identities to find general expressions for the transformation of the entanglement entropy under a diffeomorphism. (In the case of a mixed anomaly there is an alternative presentation of the theory in which the entanglement entropy is not invariant under a U(1) gauge transformation. The free-field manifestation of this phenomenon involves a novel kind of fermion zero mode on a gravitational background with a twist in the normal bundle to the entangling surface.) We also study d-dimensional anomalous systems as the boundaries of d+1 dimensional gapped Hall phases. Here the full system is non-anomalous, but the boundary anomaly manifests itself in a change in the entanglement entropy when the boundary metric is sheared relative to the bulk.

Ebstein's anomaly in pregnancy: maternal and neonatal outcomes.

Science.gov (United States)

Chopra, Seema; Suri, Vanita; Aggarwal, Neelam; Rohilla, Meenakshi; Vijayvergiya, Rajesh; Keepanasseril, Anish

2010-04-01

Ebstein's anomaly is a rare congenital cardiac abnormality, associated with cyanosis and arrhythmia. Patients often reach childbearing age and pregnant women pose a challenge to the treating physician. We describe the course and outcome of pregnancy in women with Ebstein's anomaly and discuss the related management issues. Analysis of pregnancies in four women with Ebstein's anomaly was carried out in a referral institute in northern India. Data of two women were analyzed retrospectively and the other two women were prospectively followed in their pregnancies during the study period. The course of the pregnancy, disease and perinatal outcome in each woman were analyzed. Four women had eight pregnancies all resulting in vaginal deliveries. There were two premature deliveries. The mean birth weight was 2.54 + or - 0.88 kg. Of the eight babies, six did not have any cardiac anomalies; one was an unexplained neonatal death and for another, no data was available. Pregnancy was well tolerated in two patients, while one had right heart failure during early pregnancy, and one had arrhythmia during labor, which was managed medically; one patient had arrhythmia in the postpartum period, which was managed medically. When a woman with Ebstein's anomaly reaches childbearing age, fertility is not affected, even in cyanotic women. Under close supervision by the woman's obstetrician and cardiologist, the pregnancy outcome is usually favorable.

Detecting Distributed Network Traffic Anomaly with Network-Wide Correlation Analysis

Directory of Open Access Journals (Sweden)

Yang Dan

2008-12-01

Full Text Available Distributed network traffic anomaly refers to a traffic abnormal behavior involving many links of a network and caused by the same source (e.g., DDoS attack, worm propagation. The anomaly transiting in a single link might be unnoticeable and hard to detect, while the anomalous aggregation from many links can be prevailing, and does more harm to the networks. Aiming at the similar features of distributed traffic anomaly on many links, this paper proposes a network-wide detection method by performing anomalous correlation analysis of traffic signals' instantaneous parameters. In our method, traffic signals' instantaneous parameters are firstly computed, and their network-wide anomalous space is then extracted via traffic prediction. Finally, an anomaly is detected by a global correlation coefficient of anomalous space. Our evaluation using Abilene traffic traces demonstrates the excellent performance of this approach for distributed traffic anomaly detection.

Sparticle spectrum and constraints in anomaly mediated supersymmetry breaking models

International Nuclear Information System (INIS)

Huitu, K.; Laamanen, J.; Pandita, P.N.

2002-01-01

We study in detail the particle spectrum in anomaly mediated supersymmetry breaking models in which supersymmetry breaking terms are induced by the super-Weyl anomaly. We investigate the minimal anomaly mediated supersymmetry breaking models, gaugino assisted supersymmetry breaking models, as well as models with additional residual nondecoupling D-term contributions due to an extra U(1) gauge symmetry at a high energy scale. We derive sum rules for the sparticle masses in these models which can help in differentiating between them. We also obtain the sparticle spectrum numerically, and compare and contrast the results so obtained for the different types of anomaly mediated supersymmetry breaking models

Trace anomaly and counterterms in designer gravity

International Nuclear Information System (INIS)

Anabalón, Andrés; Astefanesei, Dumitru; Choque, David; Martínez, Cristián

2016-01-01

We construct concrete counterterms of the Balasubramanian-Kraus type for Einstein-scalar theories with designer gravity boundary conditions in AdS_4, so that the total action is finite on-shell and satisfy a well defined variational principle. We focus on scalar fields with the conformal mass m"2=−2l"−"2 and show that the holographic mass matches the Hamiltonian mass for any boundary conditions. We compute the trace anomaly of the dual field theory in the generic case, as well as when there exist logarithmic branches of non-linear origin. As expected, the anomaly vanishes for the boundary conditions that are AdS invariant. When the anomaly does not vanish, the dual stress tensor describes a thermal gas with an equation of state related to the boundary conditions of the scalar field. In the case of a vanishing anomaly, we recover the dual theory of a massless thermal gas. As an application of the formalism, we consider a general family of exact hairy black hole solutions that, for some particular values of the parameters in the moduli potential, contains solutions of four-dimensional gauged N=8 supergravity and its ω-deformation. Using the AdS/CFT duality dictionary, they correspond to triple trace deformations of the dual field theory.

Anomaly-free chiral theories in six dimensions

International Nuclear Information System (INIS)

Green, M.B.; Schwarz, J.H.; West, P.C.

1985-01-01

The coupled N = 1 Yang-Mills plus supergravity theory in ten dimensions can be made anomaly-free for SO(32) or E/sub 8/ X E/sub 8/. Only the case of SO(32) is known to correspond to a superstring theory, which is probably necessary for a fully consistent quantum theory. Anomaly-free chiral theories in lower dimensions can be obtained by considering nontrivial compactifications (involving nonzero background gauge fields) of the ten-dimensional theory that satisfy a topological consistency condition. This paper considers the compactification of four dimensions on the manifold K/sub 3/ without requiring that the equations of motion be satisfied. This leads to a large number of anomaly-free chiral supersymmetric six-dimensional theories, corresponding to various ways of embedding U(1) factors in SO(32) or E/sub 8/ X E/sub 8/

Identifying Threats Using Graph-based Anomaly Detection

Science.gov (United States)

Eberle, William; Holder, Lawrence; Cook, Diane

Much of the data collected during the monitoring of cyber and other infrastructures is structural in nature, consisting of various types of entities and relationships between them. The detection of threatening anomalies in such data is crucial to protecting these infrastructures. We present an approach to detecting anomalies in a graph-based representation of such data that explicitly represents these entities and relationships. The approach consists of first finding normative patterns in the data using graph-based data mining and then searching for small, unexpected deviations to these normative patterns, assuming illicit behavior tries to mimic legitimate, normative behavior. The approach is evaluated using several synthetic and real-world datasets. Results show that the approach has high truepositive rates, low false-positive rates, and is capable of detecting complex structural anomalies in real-world domains including email communications, cellphone calls and network traffic.

Preimplantation genetic diagnosis guided by single-cell genomics

Science.gov (United States)

2013-01-01

Preimplantation genetic diagnosis (PGD) aims to help couples with heritable genetic disorders to avoid the birth of diseased offspring or the recurrence of loss of conception. Following in vitro fertilization, one or a few cells are biopsied from each human preimplantation embryo for genetic testing, allowing diagnosis and selection of healthy embryos for uterine transfer. Although classical methods, including single-cell PCR and fluorescent in situ hybridization, enable PGD for many genetic disorders, they have limitations. They often require family-specific designs and can be labor intensive, resulting in long waiting lists. Furthermore, certain types of genetic anomalies are not easy to diagnose using these classical approaches, and healthy offspring carrying the parental mutant allele(s) can result. Recently, state-of-the-art methods for single-cell genomics have flourished, which may overcome the limitations associated with classical PGD, and these underpin the development of generic assays for PGD that enable selection of embryos not only for the familial genetic disorder in question, but also for various other genetic aberrations and traits at once. Here, we discuss the latest single-cell genomics methodologies based on DNA microarrays, single-nucleotide polymorphism arrays or next-generation sequence analysis. We focus on their strengths, their validation status, their weaknesses and the challenges for implementing them in PGD. PMID:23998893

Thermal Expansion Anomaly Regulated by Entropy

Science.gov (United States)

Liu, Zi-Kui; Wang, Yi; Shang, Shunli

2014-11-01

Thermal expansion, defined as the temperature dependence of volume under constant pressure, is a common phenomenon in nature and originates from anharmonic lattice dynamics. However, it has been poorly understood how thermal expansion can show anomalies such as colossal positive, zero, or negative thermal expansion (CPTE, ZTE, or NTE), especially in quantitative terms. Here we show that changes in configurational entropy due to metastable micro(scopic)states can lead to quantitative prediction of these anomalies. We integrate the Maxwell relation, statistic mechanics, and first-principles calculations to demonstrate that when the entropy is increased by pressure, NTE occurs such as in Invar alloy (Fe3Pt, for example), silicon, ice, and water, and when the entropy is decreased dramatically by pressure, CPTE is expected such as in anti-Invar cerium, ice and water. Our findings provide a theoretic framework to understand and predict a broad range of anomalies in nature in addition to thermal expansion, which may include gigantic electrocaloric and electromechanical responses, anomalously reduced thermal conductivity, and spin distributions.

Assessing Asset Pricing Anomalies

NARCIS (Netherlands)

W.A. de Groot (Wilma)

2017-01-01

markdownabstractOne of the most important challenges in the field of asset pricing is to understand anomalies: empirical patterns in asset returns that cannot be explained by standard asset pricing models. Currently, there is no consensus in the academic literature on the underlying causes of

Echocardiography in Ebstein's anomaly

NARCIS (Netherlands)

W.J. Gussenhoven (Wilhelmina Johanna)

1984-01-01

textabstractIn this thesis the value of echocardiography is evaluated for the diagnosis of Ebstein's anomaly of the tricuspid valve. This congenital heart defect, first described in 1866 by Wilhelm Ebstein, is characterized by an apical displacement of the septal and inferior tricuspid valve

The gravity anomaly of Mount Amiata; different approaches for understanding anomaly source distribution

Science.gov (United States)

Girolami, C.; Barchi, M. R.; Heyde, I.; Pauselli, C.; Vetere, F.; Cannata, A.

2017-11-01

In this work, the gravity anomaly signal beneath Mount Amiata and its surroundings have been analysed to reconstruct the subsurface setting. In particular, the work focuses on the investigation of the geological bodies responsible for the Bouguer gravity minimum observed in this area.

Multi-Level Anomaly Detection on Time-Varying Graph Data

Energy Technology Data Exchange (ETDEWEB)

Bridges, Robert A [ORNL; Collins, John P [ORNL; Ferragut, Erik M [ORNL; Laska, Jason A [ORNL; Sullivan, Blair D [ORNL

2015-01-01

This work presents a novel modeling and analysis framework for graph sequences which addresses the challenge of detecting and contextualizing anomalies in labelled, streaming graph data. We introduce a generalization of the BTER model of Seshadhri et al. by adding flexibility to community structure, and use this model to perform multi-scale graph anomaly detection. Specifically, probability models describing coarse subgraphs are built by aggregating probabilities at finer levels, and these closely related hierarchical models simultaneously detect deviations from expectation. This technique provides insight into a graph's structure and internal context that may shed light on a detected event. Additionally, this multi-scale analysis facilitates intuitive visualizations by allowing users to narrow focus from an anomalous graph to particular subgraphs or nodes causing the anomaly. For evaluation, two hierarchical anomaly detectors are tested against a baseline Gaussian method on a series of sampled graphs. We demonstrate that our graph statistics-based approach outperforms both a distribution-based detector and the baseline in a labeled setting with community structure, and it accurately detects anomalies in synthetic and real-world datasets at the node, subgraph, and graph levels. To illustrate the accessibility of information made possible via this technique, the anomaly detector and an associated interactive visualization tool are tested on NCAA football data, where teams and conferences that moved within the league are identified with perfect recall, and precision greater than 0.786.

Conformal anomaly c-coefficients of superconformal 6d theories

Energy Technology Data Exchange (ETDEWEB)

Beccaria, Matteo [Dipartimento di Matematica e Fisica Ennio De Giorgi, Università del Salento & INFN,Via Arnesano, 73100 Lecce (Italy); Tseytlin, Arkady A. [The Blackett Laboratory, Imperial College,London SW7 2AZ (United Kingdom)

2016-01-04

We propose general relations between the conformal anomaly and the chiral (R-symmetry and gravitational) anomaly coefficients in 6d (1,0) superconformal theories. The suggested expressions for the three type B conformal anomaly c{sub i}-coefficients complement the expression for the type A anomaly a-coefficient found in http://arxiv.org/abs/1506.03807. We check them on several examples — the standard (1,0) hyper and tensor multiplets as well as some higher derivative short multiplets containing vector fields that generalize the superconformal 6d vector multiplet discussed in http://arxiv.org/abs/1506.08727. We also consider a family of higher derivative superconformal (2,0) 6d multiplets associated to 7d multiplets in the KK spectrum of 11d supergravity compactified on S{sup 4}. In particular, we prove that (2,0) 6d conformal supergravity coupled to 26 tensor multiplets is free of all chiral and conformal anomalies. We discuss some interacting (1,0) superconformal theories, predicting the c{sub i}-coefficients for the “E-string” theory on multiple M5-branes at E{sub 8} 9-brane and for the theory describing M5-branes at an orbifold singularity ℂ{sup 2}/Γ. Finally, we elaborate on holographic computation of subleading corrections to conformal anomaly coefficients coming from R{sup 2}+R{sup 3} terms in 7d effective action, revisiting, in particular, the (2,0) theory case.

Unsupervised Ensemble Anomaly Detection Using Time-Periodic Packet Sampling

Science.gov (United States)

Uchida, Masato; Nawata, Shuichi; Gu, Yu; Tsuru, Masato; Oie, Yuji

We propose an anomaly detection method for finding patterns in network traffic that do not conform to legitimate (i.e., normal) behavior. The proposed method trains a baseline model describing the normal behavior of network traffic without using manually labeled traffic data. The trained baseline model is used as the basis for comparison with the audit network traffic. This anomaly detection works in an unsupervised manner through the use of time-periodic packet sampling, which is used in a manner that differs from its intended purpose — the lossy nature of packet sampling is used to extract normal packets from the unlabeled original traffic data. Evaluation using actual traffic traces showed that the proposed method has false positive and false negative rates in the detection of anomalies regarding TCP SYN packets comparable to those of a conventional method that uses manually labeled traffic data to train the baseline model. Performance variation due to the probabilistic nature of sampled traffic data is mitigated by using ensemble anomaly detection that collectively exploits multiple baseline models in parallel. Alarm sensitivity is adjusted for the intended use by using maximum- and minimum-based anomaly detection that effectively take advantage of the performance variations among the multiple baseline models. Testing using actual traffic traces showed that the proposed anomaly detection method performs as well as one using manually labeled traffic data and better than one using randomly sampled (unlabeled) traffic data.

Kullback-Leibler distance-based enhanced detection of incipient anomalies

KAUST Repository

Harrou, Fouzi

2016-09-09

Accurate and effective anomaly detection and diagnosis of modern engineering systems by monitoring processes ensure reliability and safety of a product while maintaining desired quality. In this paper, an innovative method based on Kullback-Leibler divergence for detecting incipient anomalies in highly correlated multivariate data is presented. We use a partial least square (PLS) method as a modeling framework and a symmetrized Kullback-Leibler distance (KLD) as an anomaly indicator, where it is used to quantify the dissimilarity between current PLS-based residual and reference probability distributions obtained using fault-free data. Furthermore, this paper reports the development of two monitoring charts based on the KLD. The first approach is a KLD-Shewhart chart, where the Shewhart monitoring chart with a three sigma rule is used to monitor the KLD of the response variables residuals from the PLS model. The second approach integrates the KLD statistic into the exponentially weighted moving average monitoring chart. The performance of the PLS-based KLD anomaly-detection methods is illustrated and compared to that of conventional PLS-based anomaly detection methods. Using synthetic data and simulated distillation column data, we demonstrate the greater sensitivity and effectiveness of the developed method over the conventional PLS-based methods, especially when data are highly correlated and small anomalies are of interest. Results indicate that the proposed chart is a very promising KLD-based method because KLD-based charts are, in practice, designed to detect small shifts in process parameters. © 2016 Elsevier Ltd

Gravity and isostatic anomaly maps of Greece produced

Science.gov (United States)

Lagios, E.; Chailas, S.; Hipkin, R. G.

A gravity anomaly map of Greece was first compiled in the early 1970s [Makris and Stavrou, 1984] from all available gravity data collected by different Hellenic institutions. However, to compose this map the data had to be smoothed to the point that many of the smaller-wavelength gravity anomalies were lost. New work begun in 1987 has resulted in the publication of an updated map [Lagios et al., 1994] and an isostatic anomaly map derived from it.The gravity data cover the area between east longitudes 19° and 27° and north latitudes 32° and 42°, organized in files of 100-km squares and grouped in 10-km squares using UTM zone 34 coordinates. Most of the data on land come from the gravity observations of Makris and Stavrou [1984] with additional data from the Institute of Geology and Mining Exploration, the Public Oil Corporation of Greece, and Athens University. These data were checked using techniques similar to those used in compiling the gravity anomaly map of the United States, but the horizontal gradient was used as a check rather than the gravity difference. Marine data were digitized from the maps of Morelli et al. [1975a, 1975b]. All gravity anomaly values are referred to the IGSN-71 system, reduced with the standard Bouger density of 2.67 Mg/m3. We estimate the errors of the anomalies in the continental part of Greece to be ±0.9 mGal; this is expected to be smaller over fairly flat regions. For stations whose height has been determined by leveling, the error is only ±0.3 mGal. For the marine areas, the errors are about ±5 mGal [Morelli, 1990].

Supersymmetric axial anomalies and the Wess-Zumino action

International Nuclear Information System (INIS)

Harada, K.; Shizuya, K.

1988-01-01

We derive, by an algebraic method, a manifestly supersymmetric extension of Bardeen's minimal form of axial anomalies, which obeys the Wess-Zumino consistency condition. The left-right symmetric form of the anomalies is also obtained by a reduction procedure. We construct the supersymmetric Wess-Zumino effective action and study its low-energy features. (orig.)

Management of vascular anomalies: Review of institutional management algorithm

Directory of Open Access Journals (Sweden)

Lalit K Makhija

2017-01-01

Full Text Available Introduction: Vascular anomalies are congenital lesions broadly categorised into vascular tumour (haemangiomas and vascular dysmorphogenesis (vascular malformation. The management of these difficult problems has lately been simplified by the biological classification and multidisciplinary approach. To standardise the treatment protocol, an algorithm has been devised. The study aims to validate the algorithm in terms of its utility and presents our experience in managing vascular anomalies. Materials and Methods: The biological classification of Mulliken and Glowacki was followed. A detailed algorithm for management of vascular anomalies has been devised in the department. The protocol is being practiced by us since the past two decades. The data regarding the types of lesions and treatment modality used were maintained. Results and Conclusion: This study was conducted from 2002 to 2012. A total of 784 cases of vascular anomalies were included in the study of which 196 were haemangiomas and 588 were vascular malformations. The algorithmic approach has brought an element of much-needed objectivity in the management of vascular anomalies. This has helped us to define the management of particular lesion considering its pathology, extent and aesthetic and functional consequences of ablation to a certain extent.

Genetic consequences of the Chernobyl accident for Belarus republic

International Nuclear Information System (INIS)

Lazjuk, G.; Nikolaev, D.; Novikova, I.; Satow, Yukio

1998-01-01

Numerous studies have shown that a great number of residents in Belarus, Russia and the Ukraine were exposed to radiation due to radioactive nuclides ejected from the Chernobyl reactor, which increased genetic load, manifested in particular, as chromosome aberrations. The increase was registered for unstable and stable, chromatid and chromosome types of aberrations. Proceeding from the findings that the number of dicentric and ring chromosomes (which are the main indicator of radiation mutagenesis at chromosome level) was increasing simultaneously with the increase of other aberrations which are common for chemical mutagenesis and from the fact that actual mutation incidences exceeded the calculated figures for the doses obtained, one can not exclude the possibility that chromosome aberrations found in the population affected by the Chernobyl disaster are caused not only by ionizing radiation but also by various mutagens, and the doses based on physical dosimetry could be underestimated. It is quite obvious that the level of chromosome aberrations can be used as a biological indicator of harmful mutagenic effects on the organism. However, the method is not yet capable of (or only partially suited for) detecting the actual genetic risk even in the cases when aberrations are found in gametes, not in peripheral blood lymphocytes as usually done. The study of the dynamics of genetic losses, as spontaneous abortions and perinatal death due to inherited anomalies, and the study of the dynamics of malformed children births are probably the most reliable methods to determine genetic risk due to any mutagenic factor affecting the population, including ionizing radiation. This is related to the fact that there are a great sequence of events (gamete selection, preimplantation and embryonal death) occurring between gamete mutations (to say nothing about a somatic one) and births of children with congenital diseases. It is nearly impossible to count them and this leads to

Genetic consequences of the Chernobyl accident for Belarus republic

Energy Technology Data Exchange (ETDEWEB)

Lazjuk, G.; Nikolaev, D.; Novikova, I. [Belarus Institute for Hereditary Diseases, Minsk (Belarus); Satow, Yukio

1998-03-01

Numerous studies have shown that a great number of residents in Belarus, Russia and the Ukraine were exposed to radiation due to radioactive nuclides ejected from the Chernobyl reactor, which increased genetic load, manifested in particular, as chromosome aberrations. The increase was registered for unstable and stable, chromatid and chromosome types of aberrations. Proceeding from the findings that the number of dicentric and ring chromosomes (which are the main indicator of radiation mutagenesis at chromosome level) was increasing simultaneously with the increase of other aberrations which are common for chemical mutagenesis and from the fact that actual mutation incidences exceeded the calculated figures for the doses obtained, one can not exclude the possibility that chromosome aberrations found in the population affected by the Chernobyl disaster are caused not only by ionizing radiation but also by various mutagens, and the doses based on physical dosimetry could be underestimated. It is quite obvious that the level of chromosome aberrations can be used as a biological indicator of harmful mutagenic effects on the organism. However, the method is not yet capable of (or only partially suited for) detecting the actual genetic risk even in the cases when aberrations are found in gametes, not in peripheral blood lymphocytes as usually done. The study of the dynamics of genetic losses, as spontaneous abortions and perinatal death due to inherited anomalies, and the study of the dynamics of malformed children births are probably the most reliable methods to determine genetic risk due to any mutagenic factor affecting the population, including ionizing radiation. This is related to the fact that there are a great sequence of events (gamete selection, preimplantation and embryonal death) occurring between gamete mutations (to say nothing about a somatic one) and births of children with congenital diseases. It is nearly impossible to count them and this leads to

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature

NARCIS (Netherlands)

Trier, D.C. van; Feenstra, I.; Bot, P.; Leeuw, N. de; Draaisma, J.M.T.

2013-01-01

Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases. Nonetheless, genotype-phenotype correlations for cardiac anomalies in the 18q deletion syndrome have rarely been reported. We report on two

[Selective neck dissection for treating recurrent branchial anomalies].

Science.gov (United States)

Chen, Liangsi; Song, Xinhan; Zhang, Siyi; Han, Zhijuan; Luo, Xiaoning; Chen, Shaohua; Zhan, Jiandong

2011-01-01

To evaluate the role of selective neck dissection in the treatment of recurrent branchial anomalies. The clinical data of 18 patients with recurrent branchial anomalies were retrospectively analyzed. In accordance with the embryologic and anatomic features of branchial anomalies, different types of selective neck dissection were applied. With dissection and protection of important vessels, nerves and other structures, enbloc resection principles were applied to extirpate branchial lesions, scarrings and inflammatory granuloma during the operation. Of all 18 patients, 16 cases were healed with primary healing, 2 cases with local incision infection were healed after dressing changes. A temporary facial nerve paralysis occurred in 1 case with recurrent first branchial cleft fistula postoperatively, and completely recovered 2 months after operation. A postoperative temporary vocal cord paralysis occurred in 1 case with recurrent fourth branchial cleft fistula, and totally recuperated 1 month after operation. No recurrences were found in all 18 cases with a follow-up period of 12-78 months (average 35 months). Selective neck dissection is a safe and effective surgical procedure for the radical treatment of recurrent branchial anomalies.

Anomaly Monitoring Method for Key Components of Satellite

Directory of Open Access Journals (Sweden)

Jian Peng

2014-01-01

Full Text Available This paper presented a fault diagnosis method for key components of satellite, called Anomaly Monitoring Method (AMM, which is made up of state estimation based on Multivariate State Estimation Techniques (MSET and anomaly detection based on Sequential Probability Ratio Test (SPRT. On the basis of analysis failure of lithium-ion batteries (LIBs, we divided the failure of LIBs into internal failure, external failure, and thermal runaway and selected electrolyte resistance (Re and the charge transfer resistance (Rct as the key parameters of state estimation. Then, through the actual in-orbit telemetry data of the key parameters of LIBs, we obtained the actual residual value (RX and healthy residual value (RL of LIBs based on the state estimation of MSET, and then, through the residual values (RX and RL of LIBs, we detected the anomaly states based on the anomaly detection of SPRT. Lastly, we conducted an example of AMM for LIBs, and, according to the results of AMM, we validated the feasibility and effectiveness of AMM by comparing it with the results of threshold detective method (TDM.

Gravitational anomalies in the solar system?

Science.gov (United States)

Iorio, Lorenzo

2015-02-01

Mindful of the anomalous perihelion precession of Mercury discovered by Le Verrier in the second half of the nineteenth century and its successful explanation by Einstein with his General Theory of Relativity in the early years of the twentieth century, discrepancies among observed effects in our Solar system and their theoretical predictions on the basis of the currently accepted laws of gravitation applied to known matter-energy distributions have the potential of paving the way for remarkable advances in fundamental physics. This is particularly important now more than ever, given that most of the universe seems to be made of unknown substances dubbed Dark Matter and Dark Energy. Should this not be directly the case, Solar system's anomalies could anyhow lead to advancements in either cumulative science, as shown to us by the discovery of Neptune in the first half of the nineteenth century, and technology itself. Moreover, investigations in one of such directions can serendipitously enrich the other one as well. The current status of some alleged gravitational anomalies in the Solar system is critically reviewed. They are: (a) Possible anomalous advances of planetary perihelia. (b) Unexplained orbital residuals of a recently discovered moon of Uranus (Mab). (c) The lingering unexplained secular increase of the eccentricity of the orbit of the Moon. (d) The so-called Faint Young Sun Paradox. (e) The secular decrease of the mass parameter of the Sun. (f) The Flyby Anomaly. (g) The Pioneer Anomaly. (h) The anomalous secular increase of the astronomical unit.

Boiling anomaly detection by various signal characterization methods

International Nuclear Information System (INIS)

Sakuma, M.; Kozma, R.; Kitamura, M.; Schoonewelle, H.; Hoogenboom, J.E.

1996-01-01

In order to detect anomalies in the early stage for complex dynamical systems like nuclear power plants, it is important to characterize various statistical features of the data acquired in normal operating condition. In this paper, concept of hierarchical anomaly monitoring method is outlined, which is based on the diversification principle. In addition to usual time and frequency domain analysis (FFT, APDF, MAR-SPRT), other analysis (wavelet, fractal, etc.) are performed. As soon as any inconsistency arises in the results of the analysis on the upper level, a thorough analysis is initiated. A comparison among these methods is performed and the efficiency of the diversification approach has been demonstrated through simulated boiling anomalies in nuclear reactors. (authors)

Ghost number anomaly in the Polyakov's light-cone gauge

International Nuclear Information System (INIS)

Suzuki, Hiroshi.

1990-06-01

The conformal (Weyl) anomaly of the ghost-anti-ghost system in the two-dimentional quantum gravity is calculated. A background covariant formalism allows us to treat the Polyakov's light-cone gauge in a systematic way. The anomaly gives a contribution to the central charge, -28, which agrees with the result of Kniznik, Polyakov and Zamolodchikov. The ghost number anomaly is also calculated, and the metric corrections to the naive ghost number current are given. It is suggested that a general scalar density in the light-cone gauge carries a screening ghost number. (author)

Holomorphic anomaly and quantum mechanics

Science.gov (United States)

Codesido, Santiago; Mariño, Marcos

2018-02-01

We show that the all-orders WKB periods of one-dimensional quantum mechanical oscillators are governed by the refined holomorphic anomaly equations of topological string theory. We analyze in detail the double-well potential and the cubic and quartic oscillators, and we calculate the WKB expansion of their quantum free energies by using the direct integration of the anomaly equations. We reproduce in this way all known results about the quantum periods of these models, which we express in terms of modular forms on the WKB curve. As an application of our results, we study the large order behavior of the WKB expansion in the case of the double well, which displays the double factorial growth typical of string theory.

Detection of short-term anomaly using parasitic discrete wavelet transform

International Nuclear Information System (INIS)

Nagamatsu, Takashi; Gofuku, Akio

2013-01-01

A parasitic discrete wavelet transform (P-DWT) that has a large flexibility in design of the mother wavelet (MW) and a high processing speed was applied for simulation and measured anomalies. First, we applied the P-DWT to detection of the short-term anomalies. Second, we applied the P-DWT to detection of the collision of pump using the pump diagnostic experiment equipment that was designed taking into consideration the structure of the pump used for the water-steam system of the fast breeder reactor 'Monju'. The vibration signals were measured by the vibration sensor attached to the pump when injecting four types of small objects (sphere, small sphere, cube, and rectangular parallelepiped). Anomaly detection was performed by calculating the fast wavelet instantaneous correlation using the parasitic filter that was constructed on the basis of the measured signals. The results suggested that the anomalies could be detected for all types of the supposed anomalies. (author)

Arsenic in drinking water and congenital heart anomalies in Hungary.

Science.gov (United States)

Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

2014-11-01

Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted. Copyright © 2014 Elsevier GmbH. All rights reserved.

Vertebral column anomalies in Indo-Pacific and Atlantic humpback dolphins Sousa spp.

Science.gov (United States)

Weir, Caroline R; Wang, John Y

2016-08-09

Conspicuous vertebral column abnormalities in humpback dolphins (genus Sousa) were documented for the first time during 3 photo-identification field studies of small populations in Taiwan, Senegal and Angola. Seven Taiwanese humpback dolphins S. chinensis taiwanensis with vertebral column anomalies (lordosis, kyphosis or scoliosis) were identified, along with 2 possible cases of vertebral osteomyelitis. There was evidence from several individuals photographed over consecutive years that the anomalies became more pronounced with age. Three Atlantic humpback dolphins S. teuszii were observed with axial deviations of the vertebral column (lordosis and kyphosis). Another possible case was identified in a calf, and 2 further animals were photographed with dorsal indents potentially indicative of anomalies. Vertebral column anomalies of humpback dolphins were predominantly evident in the lumbo-caudal region, but one Atlantic humpback dolphin had an anomaly in the cervico-thoracic region. Lordosis and kyphosis occurred simultaneously in several individuals. Apart from the described anomalies, all dolphins appeared in good health and were not obviously underweight or noticeably compromised in swim speed. This study presents the first descriptions of vertebral column anomalies in the genus Sousa. The causative factors for the anomalies were unknown in every case and are potentially diverse. Whether these anomalies result in reduced fitness of individuals or populations merits attention, as both the Taiwanese and Atlantic humpback dolphin are species of high conservation concern.

Present Status of b -> s l+ l- Anomalies

CERN Document Server

Mahmoudi, Farvah; Neshatpour, Siavash

2017-05-04

We discuss the observed deviations in b -> s l+ l- processes from the Standard Model predictions and present global fits for the New Physics description of these anomalies. We further investigate the stability of the global fits under different theoretical assumptions and suggest strategies and a number of observables to clear up the source of the anomalies.

Generative adversarial networks for anomaly detection in images

OpenAIRE

Batiste Ros, Guillem

2018-01-01

Anomaly detection is used to identify abnormal observations that don t follow a normal pattern. Inthis work, we use the power of Generative Adversarial Networks in sampling from image distributionsto perform anomaly detection with images and to identify local anomalous segments within thisimages. Also, we explore potential application of this method to support pathological analysis ofbiological tissues

[Management and classification of first branchial cleft anomalies].

Science.gov (United States)

Zhong, Zhen; Zhao, Enmin; Liu, Yuhe; Liu, Ping; Wang, Quangui; Xiao, Shuifang

2013-07-01

We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies. Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria. According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found. First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases

The long term variation in the ionospheric winter absorption anomaly

International Nuclear Information System (INIS)

Beynon, W.J.G.; Williams, E.R.

1976-01-01

An analysis of vertical incidence absorption data for a mid-latitude station (Freiburg 48 0 N 7.5 0 E) for the 13-year period 1957 to 1969 shows that there is a solar cycle variation both in the number of winter anomaly days and in the magnitude of the absorption anomaly. The magnitude of this variation is discussed in relation to solar X-ray flux and to geomagnetic disturbance. The magnitude of winter anomaly absorption is a maximum in the frequency range 2 to 2.5 MHz. Comparison of the winter anomaly phenomenon at a range of mid-latitude stations suggests that there may be small longitude variation in the magnitude of the phenomenon. (author)

Path Integrals and Anomalies in Curved Space

International Nuclear Information System (INIS)

Louko, Jorma

2007-01-01

Bastianelli and van Nieuwenhuizen's monograph 'Path Integrals and Anomalies in Curved Space' collects in one volume the results of the authors' 15-year research programme on anomalies that arise in Feynman diagrams of quantum field theories on curved manifolds. The programme was spurred by the path-integral techniques introduced in Alvarez-Gaume and Witten's renowned 1983 paper on gravitational anomalies which, together with the anomaly cancellation paper by Green and Schwarz, led to the string theory explosion of the 1980s. The authors have produced a tour de force, giving a comprehensive and pedagogical exposition of material that is central to current research. The first part of the book develops from scratch a formalism for defining and evaluating quantum mechanical path integrals in nonlinear sigma models, using time slicing regularization, mode regularization and dimensional regularization. The second part applies this formalism to quantum fields of spin 0, 1/2, 1 and 3/2 and to self-dual antisymmetric tensor fields. The book concludes with a discussion of gravitational anomalies in 10-dimensional supergravities, for both classical and exceptional gauge groups. The target audience is researchers and graduate students in curved spacetime quantum field theory and string theory, and the aims, style and pedagogical level have been chosen with this audience in mind. Path integrals are treated as calculational tools, and the notation and terminology are throughout tailored to calculational convenience, rather than to mathematical rigour. The style is closer to that of an exceedingly thorough and self-contained review article than to that of a textbook. As the authors mention, the first part of the book can be used as an introduction to path integrals in quantum mechanics, although in a classroom setting perhaps more likely as supplementary reading than a primary class text. Readers outside the core audience, including this reviewer, will gain from the book a

Association of Dental Anomalies with Different Types of Malocclusions in Pretreatment Orthodontic Patients.

Science.gov (United States)

Dwijendra, K S; Parikh, Vishal; George, Soja Sara; Kukkunuru, Gururam Tej; Chowdary, Gali Nagarjuna

2015-06-01

The study is planned to correlate the existence of dental anomalies with different types of malocclusion as the occurrence of anomalies is common in malocclusion. The present study was conducted among 430 patients with different types of malocclusion as 161 patients having Class I, 203 with Class II, and 66 with Class III malocclusion. The age of the patients ranged from 12 to 15 years. Diagnosis was done on the basis of history, clinical, cephalometric, radiographs, and dental cast examination. The level of significance was set at P = 0.05. Most common anomaly was rotation of teeth (18.80%), followed by hypodontia (10.90%), and least occurring was gemination, fusion, talon's cusp, and dilacerations. 31.4% showed one dental anomaly, whereas 11.9% exhibited two or more dental anomalies. The highest mean value of all the dental anomalies was seen with severe cases of malocclusion and also significant differences were observed according to gender. The present study investigated various dental anomalies in relation to malocclusion. It was found that 31.4% showed one dental anomaly, whereas 11.9% exhibited two or more dental anomalies. Hence, careful prior investigation of dental anomalies is necessary for better orthodontic treatment planning to reduce the complications.

Intraspinal anomalies in scoliosis: An MRI analysis of 177 consecutive scoliosis patients

Directory of Open Access Journals (Sweden)

Rajasekaran S

2010-01-01

Full Text Available Background : The association of intraspinal neural anomalies with scoliosis is known for more than six decades. However, there are no studies documenting the incidence of association of intraspinal anomalies in scoliotic patients in the Indian population. The guide lines to obtain an magnetic resonance imaging (MRI scan to rule out neuro-axial abnormalities in presumed adolescent idiopathic scoliosis are also not clear. We conducted a prospective study (a to document and analyze the incidence and types of intraspinal anomalies in different types of scoliosis in Indian patients. (b to identify clinico-radiological ′indicators′ that best predict the findings of neuro-axial abnormalities in patients with presumed adolescent idiopathic scoliosis, which will alert the physician to the possible presence of intraspinal anomalies and optimize the use of MRI in this sub group of patients. Materials and Methods : The data from 177 consecutive scoliotic patients aged less than 21 years were analyzed. Patients were categorized into three groups; Group A - congenital scoliosis (n=60, group B -presumed idiopathic scoliosis (n=94 and group C - scoliosis secondary to neurofibromatosis, neuromuscular and connective tissue disorders (n=23. The presence and type of anomaly in the MRI was correlated to patient symptoms, clinical signs and curve characteristics. Results : The incidence of intraspinal anomalies in congenital scoliosis was 35% (21/60, with tethered cord due to filum terminale being the commonest anomaly (10/21. Patients with multiple vertebral anomalies had the highest incidence (48% of neural anomalies and isolated hemi vertebrae had none. In presumed ′idiopathic′ scoliosis patients the incidence was higher (16% than previously reported. Arnold Chiari-I malformation (AC-I with syringomyelia was the most common neural anomaly (9/15 and the incidence was higher in the presence of neurological findings (100%, apical kyphosis (66.6% and early

Connecting anomaly and tunneling methods for the Hawking effect through chirality

International Nuclear Information System (INIS)

Banerjee, Rabin; Majhi, Bibhas Ranjan

2009-01-01

The role of chirality is discussed in unifying the anomaly and the tunneling formalisms for deriving the Hawking effect. Using the chirality condition and starting from the familiar form of the trace anomaly, the chiral (gravitational) anomaly, manifested as a nonconservation of the stress tensor, near the horizon of a black hole, is derived. Solution of this equation yields the stress tensor whose asymptotic infinity limit gives the Hawking flux. Finally, use of the same chirality condition in the tunneling formalism gives the Hawking temperature that is compatible with the flux obtained by anomaly method.

Atrialised right ventricular myxoma in a patient with Ebstein’s anomaly

Directory of Open Access Journals (Sweden)

T-J John

2018-03-01

Full Text Available Ebstein’s anomaly is a rare entity affecting around 1 in 200,000 live births and accounts for less than 1% of congenital heart diseases. Ebstein’s anomaly with an associated right-sided myxoma is extremely rare, with only one other case report found in the literature. Previous reports have also noted cases of Ebstein’s anomaly associated with left-sided myxomas. We describe a female patient with, to our knowledge, the first case of a histopathologically confirmed right ventricular myxoma in the setting of Ebstein’s anomaly.

The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.

2016-01-01

BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer...... studies with pregnancies exposed to newer AEDs and detailed information on congenital anomalies. The congenital anomalies in the studies were classified according to the congenital anomaly subgroups of European Surveillance of Congenital Anomalies (EUROCAT). We compared the prevalence of specific...... and were not supported by other studies. No signals were found for the other newer AEDs, or the information was too limited to provide such a signal. CONCLUSION: In terms of associations between monotherapy with a newer AED in the first trimester of pregnancy and a specific congenital anomaly, the signals...

Prevalence of dental anomalies in Indian population

OpenAIRE

Santosh, Patil; Bharati, Doni; Sumita, Kaswan; Farzan, Rahman

2013-01-01

Objectives: Developmental anomalies of the dentition are not infrequently observed by the dental practitioner. The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. Study Design: A retrospective study of 4133 panoramic radiographs of patients, who attended the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 was done. The ages of the patients ranged from 13 to 38 year...

Clinical evaluation of nonsyndromic dental anomalies in Dravidian population: A cluster sample analysis

OpenAIRE

Yamunadevi, Andamuthu; Selvamani, M.; Vinitha, V.; Srivandhana, R.; Balakrithiga, M.; Prabhu, S.; Ganapathy, N.

2015-01-01

Aim: To record the prevalence rate of dental anomalies in Dravidian population and analyze the percentage of individual anomalies in the population. Methodology: A cluster sample analysis was done, where 244 subjects studying in a dental institution were all included and analyzed for occurrence of dental anomalies by clinical examination, excluding third molars from analysis. Results: 31.55% of the study subjects had dental anomalies and shape anomalies were more prevalent (22.1%), followed b...

Dental Anomalies in Permanent Teeth after Trauma in Primary Dentition.

Science.gov (United States)

Bardellini, Elena; Amadori, Francesca; Pasini, Stefania; Majorana, Alessandra

This retrospective study aims to evaluate the prevalence of dental anomalies in permanent teeth as a result of a trauma concerning the predecessor primary teeth. A total of 241 records of children (118 males and 123 females, mean age 3.62 ± 1.40) affected by trauma on primary teeth were analyzed. All patients were recalled to evaluate the status of the permanent successor teeth by clinical and radiographic investigations. Out of 241 patients, 106 patients (for a total of 179 traumatized primary teeth) presented at the recall. Dental anomalies on successor permanent teeth were detected in 21 patients (19.8%), for a total of 26 teeth (14.5%) and 28 anomalies. Anomalies of the eruptive process were the most observed disturbances (60.7%), followed by enamel hypoplasia (25%) and white spots (14.3%). A higher percentage of anomalies on permanent teeth was observed when trauma occurred at an age less than 36 months (38.5% of cases). Intrusive and extrusive luxation were related with the most cases of clinical disturbances in the successor permanent teeth. The results of this study highlight the risk of dental anomalies after a trauma in primary dentition, especially in early-aged children and in case of intrusive luxation.

Role of magnetic resonance urography in pediatric renal fusion anomalies

International Nuclear Information System (INIS)

Chan, Sherwin S.; Ntoulia, Aikaterini; Khrichenko, Dmitry; Back, Susan J.; Darge, Kassa; Tasian, Gregory E.; Dillman, Jonathan R.

2017-01-01

Renal fusion is on a spectrum of congenital abnormalities that occur due to disruption of the migration process of the embryonic kidneys from the pelvis to the retroperitoneal renal fossae. Clinically, renal fusion anomalies are often found incidentally and associated with increased risk for complications, such as urinary tract obstruction, infection and urolithiasis. These anomalies are most commonly imaged using ultrasound for anatomical definition and less frequently using renal scintigraphy to quantify differential renal function and assess urinary tract drainage. Functional magnetic resonance urography (fMRU) is an advanced imaging technique that combines the excellent soft-tissue contrast of conventional magnetic resonance (MR) images with the quantitative assessment based on contrast medium uptake and excretion kinetics to provide information on renal function and drainage. fMRU has been shown to be clinically useful in evaluating a number of urological conditions. A highly sensitive and radiation-free imaging modality, fMRU can provide detailed morphological and functional information that can facilitate conservative and/or surgical management of children with renal fusion anomalies. This paper reviews the embryological basis of the different types of renal fusion anomalies, their imaging appearances at fMRU, complications associated with fusion anomalies, and the important role of fMRU in diagnosing and managing children with these anomalies. (orig.)

Role of magnetic resonance urography in pediatric renal fusion anomalies

Energy Technology Data Exchange (ETDEWEB)

Chan, Sherwin S. [Children' s Mercy Hospital, Department of Radiology, Kansas City, MO (United States); Ntoulia, Aikaterini; Khrichenko, Dmitry [The Children' s Hospital of Philadelphia, Division of Body Imaging, Department of Radiology, Philadelphia, PA (United States); Back, Susan J.; Darge, Kassa [The Children' s Hospital of Philadelphia, Division of Body Imaging, Department of Radiology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); Tasian, Gregory E. [University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); The Children' s Hospital of Philadelphia, Division of Urology, Department of Surgery, Philadelphia, PA (United States); Dillman, Jonathan R. [Cincinnati Children' s Hospital Medical Center, Division of Thoracoabdominal Imaging, Department of Radiology, Cincinnati, OH (United States)

2017-12-15

Renal fusion is on a spectrum of congenital abnormalities that occur due to disruption of the migration process of the embryonic kidneys from the pelvis to the retroperitoneal renal fossae. Clinically, renal fusion anomalies are often found incidentally and associated with increased risk for complications, such as urinary tract obstruction, infection and urolithiasis. These anomalies are most commonly imaged using ultrasound for anatomical definition and less frequently using renal scintigraphy to quantify differential renal function and assess urinary tract drainage. Functional magnetic resonance urography (fMRU) is an advanced imaging technique that combines the excellent soft-tissue contrast of conventional magnetic resonance (MR) images with the quantitative assessment based on contrast medium uptake and excretion kinetics to provide information on renal function and drainage. fMRU has been shown to be clinically useful in evaluating a number of urological conditions. A highly sensitive and radiation-free imaging modality, fMRU can provide detailed morphological and functional information that can facilitate conservative and/or surgical management of children with renal fusion anomalies. This paper reviews the embryological basis of the different types of renal fusion anomalies, their imaging appearances at fMRU, complications associated with fusion anomalies, and the important role of fMRU in diagnosing and managing children with these anomalies. (orig.)

A Comparative Evaluation of Unsupervised Anomaly Detection Algorithms for Multivariate Data

Science.gov (United States)

Goldstein, Markus; Uchida, Seiichi

2016-01-01

Anomaly detection is the process of identifying unexpected items or events in datasets, which differ from the norm. In contrast to standard classification tasks, anomaly detection is often applied on unlabeled data, taking only the internal structure of the dataset into account. This challenge is known as unsupervised anomaly detection and is addressed in many practical applications, for example in network intrusion detection, fraud detection as well as in the life science and medical domain. Dozens of algorithms have been proposed in this area, but unfortunately the research community still lacks a comparative universal evaluation as well as common publicly available datasets. These shortcomings are addressed in this study, where 19 different unsupervised anomaly detection algorithms are evaluated on 10 different datasets from multiple application domains. By publishing the source code and the datasets, this paper aims to be a new well-funded basis for unsupervised anomaly detection research. Additionally, this evaluation reveals the strengths and weaknesses of the different approaches for the first time. Besides the anomaly detection performance, computational effort, the impact of parameter settings as well as the global/local anomaly detection behavior is outlined. As a conclusion, we give an advise on algorithm selection for typical real-world tasks. PMID:27093601

[Clinical symptoms and signs in Kimmerle anomaly].

Science.gov (United States)

Split, Wojciech; Sawrasewicz-Rybak, Małgorzata

2002-01-01

The aim of the study was to consider Kimmerle anomaly (ponticulus posterior of the atlas) as an anatomic variant, which can cause a set of clinical symptoms and signs. A hundred and eight patients, 58 females and 50 males at the age of 18-59 years (M. 36.9 years, SD = 9.6) with radiologically verified Kimmerle anomaly were examined. A control group comprised 40 healthy subjects at the similar age range. The diagnosis of headaches was based on the criteria proposed by the IHS. A character of headaches, their localization, frequency, duration, number of days with headaches per year, circumstances associated with their onset and concomitant symptoms were evaluated. All the patients were subjected to electrophysiological studies (ENG, EEG and VEP). The results were statistically analyzed using a SPSS/PC+ computer system. It was revealed that clinical symptoms and signs in Kimmerle anomaly occurred most frequently in the third and fourth decade of life (65% of cases). These were most often tension-type headaches (50% of cases with headaches), vascular headaches (26% of cases) and neuralgia (24% of cases). Intensity of headaches was high. Headaches were accompanied by other complaints like vertigo (59% of cases) and in one third of cases--nausea. About 10% of patients also suffered from vomiting, paresthesia, dizziness, short periods of loss of consciousness. Sporadically--tinitus, drop attack, and vegetative symptoms. In cases without pain the most frequent signs were short periods of loss of consciousness, dizziness, and also nausea and dizziness. The EEG examination revealed pathology in 40% of patients with Kimmerle anomaly. The ENG examination in more than 33% of anomaly cases showed injury in the central part of vestibular system. Improper answers were reported in about 75% of the patients during the VEP examination.

Airborne detection of magnetic anomalies associated with soils on the Oak Ridge Reservation, Tennessee

International Nuclear Information System (INIS)

Doll, W.E.; Beard, L.P.; Helm, J.M.

1995-01-01

Reconnaissance airborne geophysical data acquired over the 35,000-acre Oak Ridge Reservation (ORR), TN, show several magnetic anomalies over undisturbed areas mapped as Copper Ridge Dolomite (CRD). The anomalies of interest are most apparent in magnetic gradient maps where they exceed 0.06 nT/m and in some cases exceed 0.5 nT/m. Anomalies as large as 25nT are seen on maps. Some of the anomalies correlate with known or suspected karst, or with apparent conductivity anomalies calculated from electromagnetic data acquired contemporaneously with the magnetic data. Some of the anomalies have a strong correlation with topographic lows or closed depressions. Surface magnetic data have been acquired over some of these sites and have confirmed the existence of the anomalies. Ground inspections in the vicinity of several of the anomalies has not led to any discoveries of manmade surface materials of sufficient size to generate the observed anomalies. One would expect an anomaly of approximately 1 nT for a pickup truck from 200 ft altitude. Typical residual magnetic anomalies have magnitudes of 5--10 nT, and some are as large as 25nT. The absence of roads or other indications of culture (past or present) near the anomalies and the modeling of anomalies in data acquired with surface instruments indicate that man-made metallic objects are unlikely to be responsible for the anomaly. The authors show that observed anomalies in the CRD can reasonably be associated with thickening of the soil layer. The occurrence of the anomalies in areas where evidences of karstification are seen would follow because sediment deposition would occur in topographic lows. Linear groups of anomalies on the maps may be associated with fracture zones which were eroded more than adjacent rocks and were subsequently covered with a thicker blanket of sediment. This study indicates that airborne magnetic data may be of use in other sites where fracture zones or buried collapse structures are of interest

Congenital eye and adneial anomalies in Kano, a 5 year review ...

African Journals Online (AJOL)

Background: Knowledge of prevalence and types of congenital eye and adnexial anomalies is important as some of these anomalies can lead to childhood blindness. The aim of the study is to determine the types of congenital eye and adnexial anomalies seen in the eye clinic of Aminu Kano Teaching Hospital Kano, ...

Suboptimal processor for anomaly detection for system surveillance and diagnosis

Energy Technology Data Exchange (ETDEWEB)

Ciftcioglu, Oe.; Hoogenboom, J.E.; Dam, H. van

1989-06-01

Anomaly detection for nuclear reactor surveillance and diagnosis is described. The residual noise obtained as a result of autoregressive (AR) modelling is essential to obtain high sensitivity for anomaly detection. By means of the method of hypothesis testing a suboptimal anomaly detection processor is devised for system surveillance and diagnosis. Experiments are carried out to investigate the performance of the processor, which is in particular of interest for on-line and real-time applications.

Nutcracker syndrome associated with celiacomesentric trunk anomaly: case report

Directory of Open Access Journals (Sweden)

Al-Zoubi NA

2017-12-01

Full Text Available Nabil A Al-Zoubi,1 Ibrahim F Al-Ghalayini,1,2 Radwan Al-Okour1,2 1Department of Surgery, 2Division of Urology, Jordan University of Science and Technology, Irbid, Jordan Introduction: Nutcracker syndrome is a rare disease entity that is caused by entrapment of the left renal vein between the aorta and superior mesenteric artery, usually due to abnormal branching of the superior mesenteric artery from the aorta causing renal venous hypertension. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Celiacomesenteric trunk anomaly is a rare variation of splanchnic artery anomaly that occurs when the celiac trunk and superior mesenteric arteries have a common origin from the aorta. A disease involving the rarely encountered celiacomesenteric trunk anomaly is extremely uncommon. To our knowledge, association between nutcracker syndrome and celiacomesentric trunk anomaly has not been reported in the literature.Case presentation: A 14-year-old boy with no significant past medical history presented with a 3-year painless hematuria. CT-angiogram revealed anterior nutcracker syndrome with celiacomesenteric trunk anomaly. The patient was managed conservatively with close follow-up.Conclusion: Nutcracker syndrome associated with celiacomesenteric trunk anomaly is extremely uncommon and is a rare cause of hematuria in children. Whether this abnormal anatomy is the cause of nutcracker syndrome or just an association should be investigated. Moreover, awareness of this anatomical variation may help in planning therapeutic options and reducing the chance of surgical iatrogenic injuries. Keywords: nutcracker syndrome, celiacomesenteric trunk, hematuria in children

Trace anomaly and counterterms in designer gravity

Energy Technology Data Exchange (ETDEWEB)

Anabalón, Andrés [Departamento de Ciencias, Facultad de Artes Liberalesand Facultad de Ingeniería y Ciencias, Universidad Adolfo Ibáñez,Av. Padre Hurtado 750, Viña del Mar (Chile); Astefanesei, Dumitru [Instituto de Física, Pontificia Universidad Católica de Valparaíso,Casilla 4059, Valparaíso (Chile); Max-Planck-Institut für Gravitationsphysik, Albert-Einstein-Institut,14476 Golm (Germany); Choque, David [Max-Planck-Institut für Gravitationsphysik, Albert-Einstein-Institut,14476 Golm (Germany); Universidad Técnica Federico Santa María,Av. España 1680, Valparaíso (Chile); Martínez, Cristián [Centro de Estudios Científicos (CECs),Av. Arturo Prat 514, Valdivia (Chile)

2016-03-17

We construct concrete counterterms of the Balasubramanian-Kraus type for Einstein-scalar theories with designer gravity boundary conditions in AdS{sub 4}, so that the total action is finite on-shell and satisfy a well defined variational principle. We focus on scalar fields with the conformal mass m{sup 2}=−2l{sup −2} and show that the holographic mass matches the Hamiltonian mass for any boundary conditions. We compute the trace anomaly of the dual field theory in the generic case, as well as when there exist logarithmic branches of non-linear origin. As expected, the anomaly vanishes for the boundary conditions that are AdS invariant. When the anomaly does not vanish, the dual stress tensor describes a thermal gas with an equation of state related to the boundary conditions of the scalar field. In the case of a vanishing anomaly, we recover the dual theory of a massless thermal gas. As an application of the formalism, we consider a general family of exact hairy black hole solutions that, for some particular values of the parameters in the moduli potential, contains solutions of four-dimensional gauged N=8 supergravity and its ω-deformation. Using the AdS/CFT duality dictionary, they correspond to triple trace deformations of the dual field theory.

Calcium isotopic anomalies in the Allende meteorite

International Nuclear Information System (INIS)

Lee, T.; Papanastassiou, D.A.; Wasserburg, G.J.

1978-01-01

We report isotopic anomalies in Ca which were found in two Ca-Al-rich inclusions of the Allende meteorite. These inclusions previously had been shown to contain special anomalies for Mg and O which were attributed to fractionation and unknown nuclear effects. The Ca data, when corrected for mass fractionation by using 40 Ca/ 44 Ca as a standard, show nonlinear isotopic effects in 48 Ca of +13.5 per mil and in 42 Ca of +1.7 per mil for one sample. The second sample shows a 48 Ca depletion of -2.9 per mil, but all other isotopes are normal. Samples with large excesses in 26 Mg show no Ca anomalies. The effects demonstrate that isotopic anomalies exist for higher-atomic-number refractory elements in solar-system materials and do not appear to be readily explainable by a simple model. The correlation of O, Mg, and Ca results on the same inclusions requires the addition and preservation in the solar system of components from idverse nucleosynthetic sources. Observed anomalous Mg and Ca compositions for coexisting mineral phases are uniform within each inclusion, and require initial isotopic homogeneity within an inclusion but the preservation of wide variations between inclusions. Assuming formation of these inclusions by condensation from a gaseous part of the solar nebula, this implies isotopic heterogeneity on a scale of 10-10 2 km within the nebula

Dental anomalies associated with unilateral and bilateral cleft lip and palate.

Science.gov (United States)

Qureshi, Wafa A; Beiraghi, Soraya; Leon-Salazar, Vladimir

2012-01-01

The purpose of this study was to compare the prevalence of dental anomalies in the primary and permanent dentition of patients with unilateral (UCLP) and bilateral (BCLP) cleft lip with or without palate. One hundred two complete clinical records were randomly selected for review from a university-based cleft palate clinic. Only nonsyndromic UCLP and BCLP cases were further selected for analysis of dental anomalies. The prevalence of 9 dental categories, including anomalies in number, crown structure, position, and maxillary-mandibular relationship, was assessed and compared between UCLP and BCLP cases using Fisher's exact test. Of the 102 charts evaluated, there were 67 cases of UCLP and 29 cases of BCLP for a total of 96 cases. There was a high prevalence of dental anomalies in primary and permanent teeth; 93% of UCLP cases and 96% of BCLP cases presented with at least 1 dental anomaly. Significant differences ( P dental anomalies associated with orofacial clefts regardless of whether they are unilateral or bilateral cleft lip with or without palate.

An Anomaly Detector Based on Multi-aperture Mapping for Hyperspectral Data

Directory of Open Access Journals (Sweden)

LI Min

2016-10-01

Full Text Available Considering the correlationship of spectral content between anomaly and clutter background, inaccurate selection of background pixels induced estimation error of background model. In order to solve the above problems, a multi-aperture mapping based anomaly detector was proposed in this paper. Firstly, differing from background model which focused on feature extraction of background, multi-aperture mapping of hyperspectral data characterized the feature of whole hyperspectral data. According to constructed basis set of multi-aperture mapping, anomaly salience index of every test pixel was proposed to measure the relative statistic difference. Secondly, in order to analysis the moderate salience anomaly precisely, membership value was constructed to identify anomaly salience of test pixels continuously based on fuzzy logical theory. At same time, weighted iterative estimation of multi-aperture mapping was expected to converge adaptively with membership value as weight. Thirdly, classical defuzzification was proposed to fuse different detection results. Hyperspectral data was used in the experiments, and the robustness and sensitivity to anomaly with lower silence of proposed detector were tested.

Renal anomalies associated with imperforate anus : case reports

International Nuclear Information System (INIS)

Nahar, Nurun; Nisa, Lutfun; Alam, F.; Karim, M.A.

2002-01-01

Four cases of renal anomaly associated with anorectal malformation are illustrated here. The findings highlight the importance of early diagnosis of renal disorders in the pediatric with congenital anomalies in order to prevent irreversible damage to the kidneys. The high sensitivity of radionuclide diagnostic imaging methods in the early diagnosis of renal disorders and evaluation of renal function in children is emphasized.(author)

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

Science.gov (United States)

Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

2016-06-01

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Anomalies and inflow on D-branes and O-planes

International Nuclear Information System (INIS)

Scrucca, Claudio A.; Serone, Marco

1999-01-01

We derive the general form of the anomaly for chiral spinors and self-dual antisymmetric tensors living on D-brane and O-plane intersections, using both path-integral and index theorem methods. We then show that the anomalous couplings to RR forms of D-branes and O-planes in a general background are precisely those required to cancel these anomalies through the inflow mechanism. This allows, for instance, for local anomaly cancellation in generic orientifold models, the relevant Green-Schwarz term being given by the sum of the anomalous couplings of all the D-branes and O-planes in the model

Neonatal outcomes in fetuses with cardiac anomalies and the impact of delivery route.

Science.gov (United States)

Parikh, Laura I; Grantz, Katherine L; Iqbal, Sara N; Huang, Chun-Chih; Landy, Helain J; Fries, Melissa H; Reddy, Uma M

2017-10-01

Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity. Gravidas with fetal cardiac anomalies and delivery >34 weeks, excluding stillbirths and aneuploidies (n = 2166 neonates, n = 2701 cardiac anomalies), were analyzed from the Consortium on Safe Labor, a retrospective cohort study of electronic medical records. Cardiac anomalies were determined using International Classification of Diseases, Ninth Revision codes and organized based on morphology. Neonates were assigned to each cardiac anomaly classification based on the most severe cardiac defect present. Neonatal outcomes were determined for each fetal cardiac anomaly. Composite neonatal morbidity (serious respiratory morbidity, sepsis, birth trauma, hypoxic ischemic encephalopathy, and neonatal death) was compared between attempted vaginal delivery and planned cesarean delivery for prenatal and postnatal diagnosis. We used multivariate logistic regression to calculate adjusted odds ratio for composite neonatal morbidity controlling for race, parity, body mass index, insurance, gestational age, maternal disease, single or multiple anomalies, and maternal drug use. Most cardiac anomalies were diagnosed postnatally except hypoplastic left heart syndrome, which had a higher prenatal than postnatal detection rate. Neonatal death occurred in 8.4% of 107 neonates with conotruncal defects. Serious respiratory morbidity occurred in 54.2% of 83 neonates with left ventricular outflow tract defects. Overall, 76.3% of pregnancies with fetal

Coronary anomalies in Pakistani children with tetralogy of fallot

International Nuclear Information System (INIS)

Hussain, I.; Patel, N.

2010-01-01

To determine coronary artery anomalies in tetralogy of Fallot in Pakistani children as seen on angiography. Study Design: Case series. Place and Duration of Study: The National Institute of Cardiovascular Diseases, Karachi, Pakistan from July 2006 to July 2007. Methodology: Children under 15 years of age with echocardiographic diagnosis of tetralogy of Fallot were included in the study. All patients had pre-operative cardiac catheterization and angiography. Coronary arteries were studied with a nonselective aortic root angiogram in standard cranially tilted left anterior oblique view. The frequency of a normal and an anomalous coronary was determined. Results: Of the 83 patients, 78% were male and had a mean age of 8.9 years. Their mean weight was 14.3 kilograms. Seventy six (91.6%) had a normal coronary anatomy while 7 (8.4%) patients had anomalous coronary arteries. Among the patients with coronary anomalies, the commonest was a single origin coronary artery in 04 (57.14%) cases. Three (42.86%) had an anomalous origin of left anterior descending artery from the right coronary artery. Conclusion: Coronary artery anomalies were detected in 8.4% of the cases with tetralogy of Fallot. Single origin coronary artery anomaly was the commonest anomaly. (author)

Preliminary Analyses of Beidou Signal-In Anomaly Since 2013

Science.gov (United States)

Wu, Y.; Ren, J.; Liu, W.

2016-06-01

As BeiDou navigation system has been operational since December 2012. There is an increasing desire to use multiple constellation to improve positioning performance. The signal-in-space (SIS) anomaly caused by the ground control and the space vehicle is one of the major threats to affect the integrity. For a young Global Navigation Satellite System, knowledge about SIS anomalies in history is very important for not only assessing the SIS integrity performance of a constellation but also providing the assumption for ARAIM (Advanced Receiver Autonomous Integrity Monitoring). In this paper, the broadcast ephemerides and the precise ones are pre-processed for avoiding the false anomaly identification. The SIS errors over the period of Mar. 2013-Feb. 2016 are computed by comparing the broadcast ephemerides with the precise ones. The time offsets between GPST (GPS time) and BDT (BeiDou time) are estimated and removed by an improved estimation algorithm. SIS worst-UREs are computed and a RMS criteria are investigated to identify the SIS anomalies. The results show that the probability of BeiDou SIS anomalies is in 10-3 level in last three years. Even though BeiDou SIS integrity performance currently cannot match the GPS integrity performances, the result indicates that BeiDou has a tendency to improve its integrity performance.

Climatic anomalies in Northern South China Sea during 1986-1987 El Nino

Energy Technology Data Exchange (ETDEWEB)

Chen Tegu (Academia Sinica, Beijing (China)); Zhou Qiang

1990-05-01

In this paper, the climatic anomalies in Northern South China Sea (NSCS) during 1986-1987 El Nino were analyzed according to meteorological and hydrographic observation data. The results showed that the most apparent anomalies were: (1) continuously weaker monsoon strength, (2) continuously much higher South China Sea High Pressure strength; (3) in 1987 only six typhoons occurred in NSCS (four less than normal), with the first typhoon occurring on 25 June, (about one month later than usual); (4) positive air temperature anomaly, negative annual precipitation and evaporation anomaly; (5) sea surface temperature and surface salinity anomaly was positive; (6) monthly mean sea level was 1 to 10cm lower than normal.

Light-front view of the axial anomaly

International Nuclear Information System (INIS)

Ji, C.; Rey, S.

1996-01-01

Motivated by an apparent puzzle of the light-front vacua incompatible with the axial anomaly, we have considered the two-dimensional massless Schwinger model for an arbitrary interpolating angle of Hornbostel close-quote s interpolating quantization surface. By examining spectral deformation of the Dirac sea under an external electric field semiclassically, we have found that the axial anomaly is quantization angle independent. This indicates an intricate nontrivial vacuum structure present even in the light-front limit. copyright 1996 The American Physical Society

Neutrino scattering and the reactor antineutrino anomaly

Science.gov (United States)

Garcés, Estela; Cañas, Blanca; Miranda, Omar; Parada, Alexander

2017-12-01

Low energy threshold reactor experiments have the potential to give insight into the light sterile neutrino signal provided by the reactor antineutrino anomaly and the gallium anomaly. In this work we analyze short baseline reactor experiments that detect by elastic neutrino electron scattering in the context of a light sterile neutrino signal. We also analyze the sensitivity of experimental proposals of coherent elastic neutrino nucleus scattering (CENNS) detectors in order to exclude or confirm the sterile neutrino signal with reactor antineutrinos.

Modular invariance, chiral anomalies and contact terms

International Nuclear Information System (INIS)

Kutasov, D.

1988-03-01

The chiral anomaly in heterotic strings with full and partial modular invariance in D=2n+2 dimensions is calculated. The boundary terms which were present in previous calculations are shown to be cancelled in the modular invariant case by contact terms, which can be obtained by an appropriate analytic continuation. The relation to the low energy field theory is explained. In theories with partial modular invariance, an expression for the anomaly is obtained and shown to be non zero in general. (author)

Routine screening for fetal anomalies: expectations.

Science.gov (United States)

Goldberg, James D

2004-03-01

Ultrasound has become a routine part of prenatal care. Despite this, the sensitivity and specificity of the procedure is unclear to many patients and healthcare providers. In a small study from Canada, 54.9% of women reported that they had received no information about ultrasound before their examination. In addition, 37.2% of women indicated that they were unaware of any fetal problems that ultrasound could not detect. Most centers that perform ultrasound do not have their own statistics regarding sensitivity and specificity; it is necessary to rely on large collaborative studies. Unfortunately, wide variations exist in these studies with detection rates for fetal anomalies between 13.3% and 82.4%. The Eurofetus study is the largest prospective study performed to date and because of the time and expense involved in this type of study, a similar study is not likely to be repeated. The overall fetal detection rate for anomalous fetuses was 64.1%. It is important to note that in this study, ultrasounds were performed in tertiary centers with significant experience in detecting fetal malformations. The RADIUS study also demonstrated a significantly improved detection rate of anomalies before 24 weeks in tertiary versus community centers (35% versus 13%). Two concepts seem to emerge from reviewing these data. First, patients must be made aware of the limitations of ultrasound in detecting fetal anomalies. This information is critical to allow them to make informed decisions whether to undergo ultrasound examination and to prepare them for potential outcomes.Second, to achieve the detection rates reported in the Eurofetus study, ultrasound examination must be performed in centers that have extensive experience in the detection of fetal anomalies.

Anomalies of subjective experience in schizophrenia and psychotic bipolar illness

DEFF Research Database (Denmark)

Parnas, Josef

2003-01-01

Symptoms (BSABS). Anomalies of experience were condensed into rational scales with good internal consistencies. RESULTS: Diagnosis of schizophrenia was associated with elevated scores on the scales measuring perplexity (loss of immediate meaning), disorders of perception, disorders of self......-awareness, and marginally so, disorders of cognition. CONCLUSION: These findings, in conjunction with those from other, methodologically similar studies, suggest that certain anomalies of subjective experience aggregate significantly in schizophrenia. These experiential anomalies appear to be relevant for early...

Gravity anomalies without geomagnetic disturbances interfere with pigeon homing--a GPS tracking study.

Science.gov (United States)

Blaser, Nicole; Guskov, Sergei I; Entin, Vladimir A; Wolfer, David P; Kanevskyi, Valeryi A; Lipp, Hans-Peter

2014-11-15

The gravity vector theory postulates that birds determine their position to set a home course by comparing the memorized gravity vector at the home loft with the local gravity vector at the release site, and that they should adjust their flight course to the gravity anomalies encountered. As gravity anomalies are often intermingled with geomagnetic anomalies, we released experienced pigeons from the center of a strong circular gravity anomaly (25 km diameter) not associated with magnetic anomalies and from a geophysical control site, equidistant from the home loft (91 km). After crossing the border zone of the anomaly--expected to be most critical for pigeon navigation--they dispersed significantly more than control birds, except for those having met a gravity anomaly en route. These data increase the credibility of the gravity vector hypothesis. © 2014. Published by The Company of Biologists Ltd.

Generalized zero point anomaly

International Nuclear Information System (INIS)

Nogueira, Jose Alexandre; Maia Junior, Adolfo

1994-01-01

It is defined Zero point Anomaly (ZPA) as the difference between the Effective Potential (EP) and the Zero point Energy (ZPE). It is shown, for a massive and interacting scalar field that, in very general conditions, the renormalized ZPA vanishes and then the renormalized EP and ZPE coincide. (author). 3 refs

Interior Alaska Bouguer Gravity Anomaly

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — A 1 kilometer Complete Bouguer Anomaly gravity grid of interior Alaska. Only those grid cells within 10 kilometers of a gravity data point have gravity values....

Supersymmetry: Kaluza-Klein theory, anomalies, and superstrings

International Nuclear Information System (INIS)

Aref'eva, I.Y.; Volovich, I.V.

1985-01-01

Progress in the search for a unified theory of elementary particles is reviewed. The supersymmetrical Kaluza-Klein theories are described: 11-, 10-, and 6-dimensional models of supergravity. The methods of spontaneous compactification, with whose help the four-dimensional theories are obtained, are described. The properties of the massless sector: zero modes in the Kaluza-Klein theories: and the question of the stability of vacuum solutions are discussed. An important criterion for the selection of a self-consistent theory is the absence of anomalies. The basic formulas for multidimensional chiral and gravitational anomalies are presented. The mechanism of the cancellation of the anomaly for Green and Schwarz's 10-dimensional effective field theory of superstrings with the gauge groups SO(32) and E 8 x E 8 is described. The basic concepts and the results of the theory of superstrings are presented. This theory has no divergences and is at the present time a very attractive candidate for a unified theory of elementary particles

Non-local Effects of Conformal Anomaly

Science.gov (United States)

Meissner, Krzysztof A.; Nicolai, Hermann

2018-03-01

It is shown that the nonlocal anomalous effective actions corresponding to the quantum breaking of the conformal symmetry can lead to observable modifications of Einstein's equations. The fact that Einstein's general relativity is in perfect agreement with all observations including cosmological or recently observed gravitational waves imposes strong restrictions on the field content of possible extensions of Einstein's theory: all viable theories should have vanishing conformal anomalies. It is shown that a complete cancellation of conformal anomalies in D=4 for both the C^2 invariant and the Euler (Gauss-Bonnet) invariant can only be achieved for N-extended supergravity multiplets with N ≥ 5.

Radioactive anomaly discrimination from spectral ratios

Science.gov (United States)

Maniscalco, James; Sjoden, Glenn; Chapman, Mac Clements

2013-08-20

A method for discriminating a radioactive anomaly from naturally occurring radioactive materials includes detecting a first number of gamma photons having energies in a first range of energy values within a predetermined period of time and detecting a second number of gamma photons having energies in a second range of energy values within the predetermined period of time. The method further includes determining, in a controller, a ratio of the first number of gamma photons having energies in the first range and the second number of gamma photons having energies in the second range, and determining that a radioactive anomaly is present when the ratio exceeds a threshold value.

Using statistical anomaly detection models to find clinical decision support malfunctions.

Science.gov (United States)

Ray, Soumi; McEvoy, Dustin S; Aaron, Skye; Hickman, Thu-Trang; Wright, Adam

2018-05-11

Malfunctions in Clinical Decision Support (CDS) systems occur due to a multitude of reasons, and often go unnoticed, leading to potentially poor outcomes. Our goal was to identify malfunctions within CDS systems. We evaluated 6 anomaly detection models: (1) Poisson Changepoint Model, (2) Autoregressive Integrated Moving Average (ARIMA) Model, (3) Hierarchical Divisive Changepoint (HDC) Model, (4) Bayesian Changepoint Model, (5) Seasonal Hybrid Extreme Studentized Deviate (SHESD) Model, and (6) E-Divisive with Median (EDM) Model and characterized their ability to find known anomalies. We analyzed 4 CDS alerts with known malfunctions from the Longitudinal Medical Record (LMR) and Epic® (Epic Systems Corporation, Madison, WI, USA) at Brigham and Women's Hospital, Boston, MA. The 4 rules recommend lead testing in children, aspirin therapy in patients with coronary artery disease, pneumococcal vaccination in immunocompromised adults and thyroid testing in patients taking amiodarone. Poisson changepoint, ARIMA, HDC, Bayesian changepoint and the SHESD model were able to detect anomalies in an alert for lead screening in children and in an alert for pneumococcal conjugate vaccine in immunocompromised adults. EDM was able to detect anomalies in an alert for monitoring thyroid function in patients on amiodarone. Malfunctions/anomalies occur frequently in CDS alert systems. It is important to be able to detect such anomalies promptly. Anomaly detection models are useful tools to aid such detections.

How Accurate Is Diagnosis of Congenital Anomalies Made by Family Physicians?

Directory of Open Access Journals (Sweden)

Hossein Mashhadi Abdolahi

2014-12-01

Full Text Available Background: Although family physicians have a key role in clinical management of many diseases and in community health, the accuracy of the diagnosis for congenital anomalies by family physicians still needs more investigations. The aim of this study was to assess the accuracy of family physicians in case detec-tion and diagnosis of congenital anomalies in rural areas, northwest of Iran. Methods: In a community-based study of 22500 children born between 2004 and 2012, all 172 cases of congenital anomalies diagnosed by family physicians were assessed by a qualified pediatrician in 47 health houses in rural areas of Tabriz District, northwest Iran. A group of 531 children was compared as con-trol subjects. Results: The overall sensitivity and specificity of family physicians‟ diagnosis for congenital anomalies were estimated 98% (95% Confidence Interval (CI: 95.9 to 100 and 100% (95% CI: 99.3 to 100, respectively. Sensitivity for diagnosis of congenital heart diseases was 97% (95% CI: 93 to 100, and for genitourinary tract, it was 86% (95% CI: 59 to 100. Specificity was estimated 100% for both groups of heart and genitourinary tract anomalies. Conclusion: The performance of family physicians was found accurate enough in the diagnosis of congenital anomalies. Health care system may consider family physician program as an effective approach to detect and clinical management of congenital anomalies.

OceanXtremes: Scalable Anomaly Detection in Oceanographic Time-Series

Science.gov (United States)

Wilson, B. D.; Armstrong, E. M.; Chin, T. M.; Gill, K. M.; Greguska, F. R., III; Huang, T.; Jacob, J. C.; Quach, N.

2016-12-01

The oceanographic community must meet the challenge to rapidly identify features and anomalies in complex and voluminous observations to further science and improve decision support. Given this data-intensive reality, we are developing an anomaly detection system, called OceanXtremes, powered by an intelligent, elastic Cloud-based analytic service backend that enables execution of domain-specific, multi-scale anomaly and feature detection algorithms across the entire archive of 15 to 30-year ocean science datasets.Our parallel analytics engine is extending the NEXUS system and exploits multiple open-source technologies: Apache Cassandra as a distributed spatial "tile" cache, Apache Spark for in-memory parallel computation, and Apache Solr for spatial search and storing pre-computed tile statistics and other metadata. OceanXtremes provides these key capabilities: Parallel generation (Spark on a compute cluster) of 15 to 30-year Ocean Climatologies (e.g. sea surface temperature or SST) in hours or overnight, using simple pixel averages or customizable Gaussian-weighted "smoothing" over latitude, longitude, and time; Parallel pre-computation, tiling, and caching of anomaly fields (daily variables minus a chosen climatology) with pre-computed tile statistics; Parallel detection (over the time-series of tiles) of anomalies or phenomena by regional area-averages exceeding a specified threshold (e.g. high SST in El Nino or SST "blob" regions), or more complex, custom data mining algorithms; Shared discovery and exploration of ocean phenomena and anomalies (facet search using Solr), along with unexpected correlations between key measured variables; Scalable execution for all capabilities on a hybrid Cloud, using our on-premise OpenStack Cloud cluster or at Amazon. The key idea is that the parallel data-mining operations will be run "near" the ocean data archives (a local "network" hop) so that we can efficiently access the thousands of files making up a three decade time

Spacecraft anomalies on the CRRES satellite correlated with the environment and insulator samples

International Nuclear Information System (INIS)

Violet, M.D.; Frederickson, A.R.

1993-01-01

The CRRES satellite has been extensively surveyed for the occurrence of onboard anomalies. CRRES system and instrument responses which were not programmed or commanded are classified as anomalies. The history of anomalies is correlated with the history of plasmas, high energy particles, and electromagnetic fields as measured on CRRES. The anomalies for each instrument on CRRES are compared with those from other instruments. The 674 anomalies, as a group, correlate well with high levels of high energy electron flux and poorly with every other environmental parameter

Waardenburg syndrome: A rare genetic disorder, a report of two cases.

Science.gov (United States)

Kumar, Sudesh; Rao, Kiran

2012-05-01

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

Ecology-genetic consequences of the chronic irradiation of animals in Chernobyl alienation zone

International Nuclear Information System (INIS)

Glazko, V.I.; Grodzinskij, D.M.; Glazko, T.T.

2006-01-01

The investigation with the use of different molecular-genetic markers and the cytogenetic analysis of genetic-population consequences in different species of voles and experimental cattle herd reproduced in Chernobyl's alienation zone is carried out. The decrease in the number of animals with cytogenetic anomalies in bone marrow cells in voles, was revealed, that testified to the selection by the radioresistance. The obtained data allow us to make conclusion that the increase of ionizing radiation is a particular case of ecological changes leading to the microevolution events connected with the selection by the stability to new conditions of the reproduction of populations

Interior Alaska Bouguer Gravity Anomaly

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — A 1 kilometer Complete Bouguer Anomaly gravity grid of interior Alaska. All grid cells within the rectangular data area (from 61 to 66 degrees North latitude and...

Genotoxic Effects of Tobacco on Buccal Epithelium: Cell Nuclear Anomalies as Biomarker

Directory of Open Access Journals (Sweden)

Sohini Das Biswas

2014-12-01

Full Text Available Background: Tobacco use has toxic effects on different organs. This study was carried out to assess the effect of indigenous tobacco both in smoking (bidi and smokeless (gutkha, zarda and khaini forms on buccal cells at chromosomal level, through assessment of different nuclear anomalies as biomarker. Methods:This study was done on people living in Durgapur and its adjacent areas, West Bengal, India during January to July 2011. The samples were collected from 50 smokers (case group, 50 smokeless tobacco consumers or chewers (case group and 50 non-tobacco consumers (control group. Micronucleus assay was used to assess buccal cell nuclear changes. Buccal smears collected from study subjects were prepared on a grease free slide. Prepared slides were observed under light microscope and 2 to 5 fields were observed randomly for counting the different anomalies. In each field, the frequency of each anomaly was assessed in 100 cells and reported with percentage. Results:Chewers had significantly the highest frequency of all nuclear anomalies compared to smokers and healthy controls (HCs. Smokers also had significantly more anomalies compared to HCs. Condensed chromatin (CC, karyolysis (KL and bi-nucleation (BN in chewers and CC, pyknosis and BN in smokers were the most frequent anomalies. KL was significantly more frequent in chewers compared to smokers (59.8 ± 6.4 vs. 24.2 ± 12.4%, P < 0.001, however, the frequency of other nuclear anomalies were not significantly different in these two study groups. Presence of each nuclear anomaly was significantly greater in older ages in all study groups. Conclusion:Tobacco can cause and increase the rate of nuclear anomalies in both smoking and smokeless forms compared to HCs. The genotoxic effects of tobacco on buccal cells are partly age-related. Cell nuclear anomalies in buccal tissue can be used as biomarker indicating the detrimental effects of tobacco.

A robust background regression based score estimation algorithm for hyperspectral anomaly detection

Science.gov (United States)

Zhao, Rui; Du, Bo; Zhang, Liangpei; Zhang, Lefei

2016-12-01

Anomaly detection has become a hot topic in the hyperspectral image analysis and processing fields in recent years. The most important issue for hyperspectral anomaly detection is the background estimation and suppression. Unreasonable or non-robust background estimation usually leads to unsatisfactory anomaly detection results. Furthermore, the inherent nonlinearity of hyperspectral images may cover up the intrinsic data structure in the anomaly detection. In order to implement robust background estimation, as well as to explore the intrinsic data structure of the hyperspectral image, we propose a robust background regression based score estimation algorithm (RBRSE) for hyperspectral anomaly detection. The Robust Background Regression (RBR) is actually a label assignment procedure which segments the hyperspectral data into a robust background dataset and a potential anomaly dataset with an intersection boundary. In the RBR, a kernel expansion technique, which explores the nonlinear structure of the hyperspectral data in a reproducing kernel Hilbert space, is utilized to formulate the data as a density feature representation. A minimum squared loss relationship is constructed between the data density feature and the corresponding assigned labels of the hyperspectral data, to formulate the foundation of the regression. Furthermore, a manifold regularization term which explores the manifold smoothness of the hyperspectral data, and a maximization term of the robust background average density, which suppresses the bias caused by the potential anomalies, are jointly appended in the RBR procedure. After this, a paired-dataset based k-nn score estimation method is undertaken on the robust background and potential anomaly datasets, to implement the detection output. The experimental results show that RBRSE achieves superior ROC curves, AUC values, and background-anomaly separation than some of the other state-of-the-art anomaly detection methods, and is easy to implement

[Megadolichobasilar anomaly causing acute deafness with vertigo].

Science.gov (United States)

Unkelbach, M H; Radeloff, A; Bink, A; Gstöttner, W; Ziemann, U

2008-01-01

Megadolichobasilar anomaly, a dilatant arteriopathy of the basilar artery attributable to chronic arterial hypertension, can cause cranial nerve compression syndromes of the cerebellopontine angle or infarcts of the vertebrobasilar circulation. In this paper, we report on a patient with known megadolichobasilar anomaly and a partially thrombosed fusiform aneurysm of the basilar artery, who presented with acute-onset vertigo and subsequent deafness due to thromboembolic occlusion of the labyrinthine artery. Because of the vascular origin of the patient's symptoms, his vertigo disappeared over time while the deafness persisted.

Supersymmetric Rényi entropy and Anomalies in 6d (1,0) SCFTs

Energy Technology Data Exchange (ETDEWEB)

Yankielowicz, Shimon; Zhou, Yang [School of Physics and Astronomy, Tel-Aviv University,Ramat-Aviv 69978 (Israel)

2017-04-21

A closed formula of the universal part of supersymmetric Rényi entropy S{sub q} for six-dimensional (1,0) superconformal theories is proposed. Within our arguments, S{sub q} across a spherical entangling surface is a cubic polynomial of ν=1/q, with 4 coefficients expressed as linear combinations of the ’t Hooft anomaly coefficients for the R-symmetry and gravitational anomalies. As an application, we establish linear relations between the c-type Weyl anomalies and the ’t Hooft anomaly coefficients. We make a conjecture relating the supersymmetric Rényi entropy to an equivariant integral of the anomaly polynomial in even dimensions and check it against known data in 4d and 6d.

Possibilities of fast track surgery principles in the treatment of congenital urological anomalies

Directory of Open Access Journals (Sweden)

Bižić Marta R.

2012-01-01

Full Text Available Introduction. Urogenital congenital anomalies are among the most common congenital anomalies and very frequent pathology in paediatric urology. Health care systems strive to shorten the duration and reduce the costs of hospitalization, while maintaining treatment effectiveness. Objective. To evaluate the duration of hospital stay of surgically treated patients with congenital urogenital anomalies and estimate the possibility of using fast track surgery principles in paediatric urology in the local settings of a developing country. Methods. Retrospective non-randomized study included 552 patients who had been surgically treated at the Urology Department of the University Children’s Hospital, during 2010. In line with their congenital anomalies, all patients were classified in one of four groups: I - upper urinary tract anomalies (252 patients; II - genital anomalies (164 patients; III - testicular anomalies (76 patients and IV - associated anomalies (60 patients. We analyzed the total duration of stay as well as preand post-operative stay in the hospital. Results. The average duration of hospitalization was 4.7±4.0 days. Patients with testicular anomalies stayed for the shortest period (2.3±1.9 days (p<0.01 and patients with associated anomalies stayed in the hospital the longest (6.5±4.7 days (p<0.01. Conclusion. Modern methods of surgical treatment allow reduction of hospitalization, financial savings to the healthcare system and greater comfort for patients. Our results showed that this is also possible to apply in our environment.

Conformal anomaly and off-shell extensions of gravity